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1. Innentitelbild: 6?????????Thioether Tobramycin Analogues: Towards Selective Targeting of Bacterial Membranes (Angew. Chem. 23/2012)

Author: Department of Medicinal Chemistry and the Life Sciences Institute, University of Michigan, 210 Washtenaw Ave, Ann Arbor, MI 48109 (USA) http://www.lsi.umich.edu/facultyresearch/labs/garneau, Department of Molecular Microbiology and Biotechnology, Faculty of Life Sciences, Tel Aviv University (Israel), School of Chemistry, Tel Aviv University, Tel Aviv 66978 (Israel), Department of Physiology and Pharmacology, Sackler School of Medicine, Tel Aviv University (Israel), Herzog, Ido M., Green, Keith D., Berkov???zrihen, Yifat, Feldman, Mark, Vidavski, Roee R., Eldar???boock, Anat, Satchi???fainaro, Ronit, Eldar, Avigdor, Garneau???tsodikova, Sylvie, Fridman, Micha, Department of Medicinal Chemistry and the Life Sciences Institute, University of Michigan, 210 Washtenaw Ave, Ann Arbor, MI 48109 (USA) http://www.lsi.umich.edu/facultyresearch/labs/garneau, Department of Molecular Microbiology and Biotechnology, Faculty of Life Sciences, Tel Aviv University (Israel), School of Chemistry, Tel Aviv University, Tel Aviv 66978 (Israel), Department of Physiology and Pharmacology, Sackler School of Medicine, Tel Aviv University (Israel), Herzog, Ido M., Green, Keith D., Berkov???zrihen, Yifat, Feldman, Mark, Vidavski, Roee R., Eldar???boock, Anat, Satchi???fainaro, Ronit, Eldar, Avigdor, Garneau???tsodikova, Sylvie, and Fridman, Micha
Published: 2012

2. Proposal for a rational classification of neck dissections

Author: Department of Otolaryngology???Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy ; Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy, Division of Otolaryngology???Head and Neck Surgery, Southern Illinois University School of Medicine, Springfield, Illinois, Head and Neck Service, Memorial Sloan???Kettering Cancer Center, New York, New York, Department of Otorhinolaryngology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, Departments of Surgery and Otolaryngology???Head and Neck Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, Department of Otolaryngology???Head and Neck Surgery, King Hussein Medical Center, Royal Medical Services, Amman, Jordan, Division of Otolaryngology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa, Department of Otolaryngology???Head and Neck Surgery, Newcastle upon Tyne Foundation Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom, Department of Otolaryngology???Head and Neck Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, Department of Pathology, Allegiance Health, Jackson, Michigan, Department of Otorhinolaryngology???Head and Neck Surgery, Kantonsspital, St. Gallen, Switzerland, Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas, Department of Otorhinolaryngology???Head and Neck Surgery, Nottingham University Hospitals, Queens Medical Centre Campus, Nottingham, United Kingdom, Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain ; Instituto Universitario de Oncolog??a del Principado de Asturias, Oviedo, Spain, Department of Otolaryngology???Head and Neck Surgery, VU University Medical Center, Amsterdam, The Netherlands, Department of Otolaryngology???Head and Neck Surgery, Uludag University School of Medicine, Bursa, Turkey, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi, Department of Otolaryngology???Head and Neck Surgery, Institut Gustave Roussy, Villejuif Cedex, France ; Laboratoire de Phon??tique et de Phonologie, Sorbonne Nouvelle, Paris, France, Department of Medicine, Division of Oncology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, Department of Head and Neck Surgery, Head and Neck Oncology Program, St Luc University Hospital and Cancer Center, Brussels, Belgium, Head and Neck Surgery and Oncology Unit, A.R.M. Center for Advanced Otolaryngology???Head and Neck Surgery, Assuta Medical Center, Tel Aviv, Israel, Department of Radiation Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands, Department of Surgery, Division of Metabolic, Endocrine and Minimally Invasive Surgery, Mount Sinai School of Medicine, New York, New York, Department of Surgery, Universidad de La Sabana???Fundacion Abood Shaio, Bogota, Colombia, Department of Radiation Oncology, Institute of Oncology, Ljubljana, Slovenia, Department of Otorhinolaryngology???Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium, Department of Otolaryngology???Head and Neck Surgery, Philipp University, Marburg, Germany, Department of Otolaryngology???Head and Neck Surgery, Holy Cross Cancer Centre, Kielce, Poland, Oral Pathology, University of Liverpool Dental Hospital, Liverpool, United Kingdom, Department of Otorhinolaryngology???Head and Neck Surgery, University Hospital, Berne, Switzerland, Department of Otorhinolaryngology???Head and Neck Surgery, 1st Faculty of Medicine, Faculty Hospital Motol, Charles University, Prague, Czech Republic, Department of Otorhinolaryngology???Head and Neck Surgery, Karl Hansen Medical Center, Bad Lippspringe, Germany, Department of Otolaryngology???Head and Neck Surgery, The Mount Sinai Medical Center, New York, New York, Head and Neck Service, The Chaim Sheba Medical Center, Tel Hashomer and Tel Aviv University Sackler School of Medicine, Tel Aviv, Israel, Department of Otolaryngology and Communicative Disorders, Cleveland Clinic Head and Neck Institute, Cleveland, Ohio, Department of Otorhinolaryngology, University Hospital A Coru??a, A Coru??a, Spain, Department of Otolaryngology???Head and Neck Surgery, Haukeland University Hospital, Bergen, Norway, Department Otorhinolaryngology???Head and Neck Surgery, Centro de Tratamento e Pesquisa Hospital do Cancer A.C. Camargo, S??o Paulo, Brazil, Department of Oral and Maxillofacial Surgery, University of Alabama at Birmingham, Birmingham, Alabama, Department of Otolaryngology???Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan, Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy, Ferlito, Alfio, Robbins, K. Thomas, Shah, Jatin P., Medina, Jesus E., Silver, Carl E., Al-Tamimi, Shawkat, Fagan, Johannes J., Paleri, Vinidh, Takes, Robert P., Bradford, Carol R., Devaney, Kenneth O., Stoeckli, Sandro J., Weber, Randal S., Bradley, Patrick J., Su??rez, Carlos, Leemans, C. Ren??, Coskun, H. Hakan, Pitman, Karen T., Shaha, Ashok R., de Bree, Remco, Hartl, Dana M., Haigentz, Missak, Rodrigo, Juan P., Hamoir, Marc, Khafif, Avi, Langendijk, Johannes A., Owen, Randall P., Sanabria, Alvaro, Strojan, Primoz, Vander Poorten, Vincent, Werner, Jochen A., Bien, Stanis??aw, Woolgar, Julia A., Zb??ren, Peter, Betka, Jan, Folz, Benedikt J., Genden, Eric M., Talmi, Yoav P., Strome, Marshall, Gonz??lez Botas, Jes??s Herranz, Olofsson, Jan, Kowalski, Luiz P., Holmes, Jon D., Hisa, Yasuo, Rinaldo, Alessandra, Department of Otolaryngology???Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy ; Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy, Division of Otolaryngology???Head and Neck Surgery, Southern Illinois University School of Medicine, Springfield, Illinois, Head and Neck Service, Memorial Sloan???Kettering Cancer Center, New York, New York, Department of Otorhinolaryngology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, Departments of Surgery and Otolaryngology???Head and Neck Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, Department of Otolaryngology???Head and Neck Surgery, King Hussein Medical Center, Royal Medical Services, Amman, Jordan, Division of Otolaryngology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa, Department of Otolaryngology???Head and Neck Surgery, Newcastle upon Tyne Foundation Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom, Department of Otolaryngology???Head and Neck Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, Department of Pathology, Allegiance Health, Jackson, Michigan, Department of Otorhinolaryngology???Head and Neck Surgery, Kantonsspital, St. Gallen, Switzerland, Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas, Department of Otorhinolaryngology???Head and Neck Surgery, Nottingham University Hospitals, Queens Medical Centre Campus, Nottingham, United Kingdom, Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain ; Instituto Universitario de Oncolog??a del Principado de Asturias, Oviedo, Spain, Department of Otolaryngology???Head and Neck Surgery, VU University Medical Center, Amsterdam, The Netherlands, Department of Otolaryngology???Head and Neck Surgery, Uludag University School of Medicine, Bursa, Turkey, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi, Department of Otolaryngology???Head and Neck Surgery, Institut Gustave Roussy, Villejuif Cedex, France ; Laboratoire de Phon??tique et de Phonologie, Sorbonne Nouvelle, Paris, France, Department of Medicine, Division of Oncology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, Department of Head and Neck Surgery, Head and Neck Oncology Program, St Luc University Hospital and Cancer Center, Brussels, Belgium, Head and Neck Surgery and Oncology Unit, A.R.M. Center for Advanced Otolaryngology???Head and Neck Surgery, Assuta Medical Center, Tel Aviv, Israel, Department of Radiation Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands, Department of Surgery, Division of Metabolic, Endocrine and Minimally Invasive Surgery, Mount Sinai School of Medicine, New York, New York, Department of Surgery, Universidad de La Sabana???Fundacion Abood Shaio, Bogota, Colombia, Department of Radiation Oncology, Institute of Oncology, Ljubljana, Slovenia, Department of Otorhinolaryngology???Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium, Department of Otolaryngology???Head and Neck Surgery, Philipp University, Marburg, Germany, Department of Otolaryngology???Head and Neck Surgery, Holy Cross Cancer Centre, Kielce, Poland, Oral Pathology, University of Liverpool Dental Hospital, Liverpool, United Kingdom, Department of Otorhinolaryngology???Head and Neck Surgery, University Hospital, Berne, Switzerland, Department of Otorhinolaryngology???Head and Neck Surgery, 1st Faculty of Medicine, Faculty Hospital Motol, Charles University, Prague, Czech Republic, Department of Otorhinolaryngology???Head and Neck Surgery, Karl Hansen Medical Center, Bad Lippspringe, Germany, Department of Otolaryngology???Head and Neck Surgery, The Mount Sinai Medical Center, New York, New York, Head and Neck Service, The Chaim Sheba Medical Center, Tel Hashomer and Tel Aviv University Sackler School of Medicine, Tel Aviv, Israel, Department of Otolaryngology and Communicative Disorders, Cleveland Clinic Head and Neck Institute, Cleveland, Ohio, Department of Otorhinolaryngology, University Hospital A Coru??a, A Coru??a, Spain, Department of Otolaryngology???Head and Neck Surgery, Haukeland University Hospital, Bergen, Norway, Department Otorhinolaryngology???Head and Neck Surgery, Centro de Tratamento e Pesquisa Hospital do Cancer A.C. Camargo, S??o Paulo, Brazil, Department of Oral and Maxillofacial Surgery, University of Alabama at Birmingham, Birmingham, Alabama, Department of Otolaryngology???Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan, Department of Surgical Sciences, ENT Clinic, University of Udine, Udine, Italy, Ferlito, Alfio, Robbins, K. Thomas, Shah, Jatin P., Medina, Jesus E., Silver, Carl E., Al-Tamimi, Shawkat, Fagan, Johannes J., Paleri, Vinidh, Takes, Robert P., Bradford, Carol R., Devaney, Kenneth O., Stoeckli, Sandro J., Weber, Randal S., Bradley, Patrick J., Su??rez, Carlos, Leemans, C. Ren??, Coskun, H. Hakan, Pitman, Karen T., Shaha, Ashok R., de Bree, Remco, Hartl, Dana M., Haigentz, Missak, Rodrigo, Juan P., Hamoir, Marc, Khafif, Avi, Langendijk, Johannes A., Owen, Randall P., Sanabria, Alvaro, Strojan, Primoz, Vander Poorten, Vincent, Werner, Jochen A., Bien, Stanis??aw, Woolgar, Julia A., Zb??ren, Peter, Betka, Jan, Folz, Benedikt J., Genden, Eric M., Talmi, Yoav P., Strome, Marshall, Gonz??lez Botas, Jes??s Herranz, Olofsson, Jan, Kowalski, Luiz P., Holmes, Jon D., Hisa, Yasuo, and Rinaldo, Alessandra
Abstract: No abstract.
Published: 2011

3. Neuroprotective Treatment of Laser-Induced Retinal Injuries

Author: SACKLER SCHOOL OF MEDICINE TEL HASHOMER (ISRAEL), Rosner, Mordechai, Solberg, Yoram, Belkin, Michael, SACKLER SCHOOL OF MEDICINE TEL HASHOMER (ISRAEL), Rosner, Mordechai, Solberg, Yoram, and Belkin, Michael
Abstract: Laser induced retinal injuries are operational and medical problem in the battlefield as a result of lasers used in military equipment and the introduction of visually incapacitating laser weapons. It is not possible to prevent all these injuries and there is no treatment. This study was designed to evaluate the neuroprotective effect of dextromethorphan, memantine and brimonidine in our rat model of laser- induced retinal-lesions Methods: Argon laser retinal lesions were inflicted in the eyes of 108 pigmented rats. The treated groups (18 rats for each compound) received the test treatment by dextromethorphan, memantine or brimonidine. The control groups (18 rats for each compound) received the solvent at the same volume and schedule as the tested compound. The rats were sacrificed 3, 20 or 60 days later and the retinal lesions were evaluated by light microscopy and morphometrie measurements. Results: No difference was demonstrated between the treated and the control groups, in the histopathologic appearance of the lesions, their size and the magnitude of photoreceptor nuclei loss within the lesions. Conclusions: Systemic treatments with dextromethorphan, memantine or brimonidine, when given at the dose and schedule evaluated, are not effective in ameliorating the retinal injury induced by argon laser in rats.
Published: 2001

4. Laser Retinal Effects: Electrophysiological Determination in Visual Cortical Cells of Monkeys and Cats

Author: SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL), Yinon, Uri, SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL), and Yinon, Uri
Abstract: The purpose of the present study was to examine electrophysiologically the effect of laser induced retinal lesions on the visual cortex of mammalian animal model. The effect of threshold energy levels of laser radiation was studied acutely and chronically in cats using the visual evoked response (VER). In addition, electroretinographic (ERG) studies have been added to the program to obtain direct physiological evidence on the condition of the retinal area affected by the laser radiation. This study was coordinated with LAIR personnel (the P.I. visited two times in LAIR), especially with regard to the type of laser technology to be used and its availability in the Goldschleger Eye Institute. A Neodymium YAG laser device (Nd:YAG) was used; energy levels applied were 0.1-1.0 millijoules (mJ) and 1-100 pulses were given to the various cats. The results showed that the ERG is affected; the lased eye was less excitable than the normal eye in most of the cats studied, whatever laser energy has been applied. The findings of the visual evoked response (VER) showed that in most cats the lased eye was inferior to the normal eye. An effect was found even in cases where energy level was as small as 0.1 mJ and whether the animals were exposed to the laser radiation 1 day or 6 weeks prior to the recording session. (sdw)
Published: 1989

5. The Protective Effect of Dimethyl Sulfoxide in Experimental Ischemia of the Intestine

Author: SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL) DEPT OF MEDICINE, Ravid,M., Van-Dyk,D., Bernheim,Joelle, Kedar,I., SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL) DEPT OF MEDICINE, Ravid,M., Van-Dyk,D., Bernheim,Joelle, and Kedar,I.
Abstract: Experiments with two models of intestinal ischemia were performed in order to examine the protective effect of dimethyl sulfoxide (DMSO). Segmental ischemia of the small intestine for 150 minutes caused necrosis of the affected bowel in 90% of the animals. Intravenous administration of DMSO or impregnation of the peritoneum with this substance prevented the development of gangrene in 28 of 29 rats. 30 or 60 minutes of complete ischemia of the small intestine, produced by clamping of the superior mesenteric artery, resulted in partial or complete necrosis of bowel segments with a high incidence of perforation and peritonitis and a high mortality rate within the first 24 hours. Intravenous DMSO, given upon declamping of the artery, effectively protected the bowel from the ischemic damage. There were no deaths among DMSO-treated animals and at 24 h there was no evidence of ischemic damage to the intestine. Through the exact mechanism of action of DMSO is unknown, the results of these and other experiments may warrant clinical trials especially in cases of mesenteric thrombosis., This article is from 'Conference on Biological Actions and Medical Applications of Dimethyl Sulfoxide (DMSO), 15-17 September 1982,' AD-A133 175. p100-104.
Published: 1983

6. Dimethyl Sulfoxide in Acute Ischemia of the Kidney

Author: SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL) DEPT OF MEDICINE, Kedar,I., Jacob,E. T., Bar-Natan,N., Ravid,M., SACKLER SCHOOL OF MEDICINE TEL AVIV (ISRAEL) DEPT OF MEDICINE, Kedar,I., Jacob,E. T., Bar-Natan,N., and Ravid,M.
Abstract: Renal ischemia was produced in rats by clamping of the renal artery for 1 h. Upon termination of the ischemic period a 20% solution of DMSO (5 g/kg b.w.) was given intravenously to 33 rats. Eighteen control animals received normal saline. All DMSO-treated animals survived while all control animals died within the subsequent seven days. At 24 h following the experiment, the mean blood urea of the control rats was 254 mg/100 m1 and the mean plasma creatinine 7.2 mg/100 m1. By contrast, the DMSO-treated rats had a mean blood urea of 69 mg/100 m1 and plasma creatinine of 1.6 mg/100 m1. In 17 animals the kidney was perfused with DMSO prior to the closure of the renal artery. All these rats survived the procedure and showed near normal kidney function at 24 h. The renal artery was clamped for 60 min in ten dogs. Five dogs received DMSO (3 g/kg b.w.) and the other five received an equivalent dose of normal saline. Three weeks later a contralateral nephrectomy was performed. Renal function was normal in the DMSO-treated dogs. One control dog died of uremia, in the remaining four a transient renal failure was observed. These experiments in two different animals highlight the protective effect of DMSO on the ischemic kidney when the drug is administered after the ischemic period., This article is from 'Conference on Biological Actions and Medical Applications of Dimethyl Sulfoxide (DMSO), 15-17 September 1982,' AD-A133 175. p131-134.
Published: 1983

7. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Author: [ 1 ] Harvard TH Chan Sch Publ Hlth, Boston, MA USA Show more [ 2 ] Chaim Sheba Med Ctr, Inst Human Genet, Susanne Levy Gertner Oncogenet Unit, IL-52621 Ramat Gan, Israel Show more [ 3 ] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Show more [ 4 ] German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany Show more [ 5 ] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 6 ] Hong Kong Sanat & Hosp, Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Hong Kong, Peoples R China Show more [ 7 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary Show more [ 8 ] Univ Buenos Aires, CONICET, Fac Med, INBIOMED, Buenos Aires, DF, Argentina Show more [ 9 ] CEMIC, Dept Clin Chem, Med Direct, Buenos Aires, DF, Argentina [ 10 ] Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia Show more [ 11 ] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Show more [ 12 ] City Hope Canc Ctr, Div Clin Canc Genom, Duarte, CA USA [ 13 ] Hong Kong Sanat & Hosp, Dept Pathol, Div Mol Pathol, Happy Valley, Hong Kong, Peoples R China [ 14 ] Dept Lab Med & Pathol, Rochester, MN USA Show more [ 15 ] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA Show more [ 16 ] Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo, Brazil Show more [ 17 ] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea Show more [ 18 ] Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Seoul, South Korea Show more [ 19 ] Seoul Natl Univ, Canc Res Ctr, Seoul, South Korea Show more [ 20 ] Pontificia Univ Javeriana, Inst Human Genet, Bogota, Colombia Show more [ 21 ] Univ Pretoria, Dept Genet, Canc Genet Lab, Pretoria, South Africa Show more [ 22 ] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England Show more [ 23 ] QIMR Berghofer Med Res Inst, Genet & Computat Biol Dept, Brisbane, Qld, Australia [ 24 ] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands [ 25 ] City Hope Clin Canc Genom Community Res Network, D, Harvard TH Chan School of Public Health and Dana Farber Cancer Institute; Boston USA, The Susanne Levy Gertner Oncogenetics Unit; Institute of Human Genetics; Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine; Tel-Aviv University; Tel-Aviv Israel, Molecular Genetics of Breast Cancer; German Cancer Research Center (DKFZ); Heidelberg Germany, Center for Clinical Cancer Genetics and Global Health; University of Chicago; Chicago USA, The Hong Kong Hereditary Breast Cancer Family Registry; Cancer Genetics Center; Hong Kong Sanatorium and Hospital; Hong Kong China, Department of Molecular Genetics; National Institute of Oncology; Budapest Hungary, INBIOMED; Faculty of Medicine, University of Buenos Aires/CONICET and CEMIC, Department of Clinical Chemistry; Medical Direction; Buenos Aires Argentina, Cancer Research Initiatives Foundation; Sime Darby Medical Centre; Subang Jaya Malaysia, Department of Clinical Genetics; Odense University Hospital; Odense Denmark, Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty; University Hospital Cologne; Cologne Germany, Clinical Genetics Services; Dept. of Medicine; Memorial Sloan-Kettering Cancer Center; New York USA, Division of Gynecologic Oncology; North Shore University Health System; University of Chicago; Evanston USA, All Wales Medical Genetics Services; University Hospital of Wales; Cardiff UK, Department of Gynecology; Vilnius University Hospital Santariskiu Clinics; Centre of Woman's Health and pathology; Vilnius Lithuania, Center for Genomic Medicine; Rigshospitalet; University of Copenhagen; Copenhagen Denmark, Clinical Cancer Genetics Program; Division of Human Genetics; Department of Internal Medicine; The Comprehensive Cancer Center; The Ohio State University; Columbus USA, Cancer Genetics Laboratory, Department of Genetics; University of Pretoria; South Africa, Department of Genetics and Pathology; Pomeranian Medical University; Szczecin Poland, Department of Medicine, Abramson Cancer Center; Perelman School of Medicine at the University of Pennsylvania; Philadelphia USA, Department of Internal Medicine; Division of Oncology; University of Kansas Medical Center; Westwood USA, North East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Trust; London UK, Genomics Center; Centre Hospitalier Universitaire de Québec Research Center and Laval University; Quebec City Canada, Dept of OB/GYN and Comprehensive Cancer Center; Medical University of Vienna; Vienna Austria, Department of Clinical Genetics; Aarhus University Hospital; Aarhus N Denmark, Division of Clinical Cancer Genomics; City of Hope Cancer Center; California USA, Medical Genetics Unit; University of London; St George's UK, Département Oncologie Génétique; Prévention et Dépistage; Institut Paoli-Calmettes; Marseille Medical School-AM University; Marseille France, Department of Breast Medical Oncology and Clinical Cancer Genetics Program; University Of Texas MD Anderson Cancer Center; Houston USA, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care; University of Cambridge; Cambridge UK, Department of Population Sciences; Beckman Research Institute of City of Hope; Duarte USA, Institute of Cell and Molecular Pathology; Hannover Medical School; Hannover Germany, Institute of Human Genetics; University Hospital Heidelberg; Heidelberg Germany, National Human Genome Research Institute; National Institutes of Health; Bethesda USA, Dept of OB/GYN, Comprehensive Cancer Center; Medical University of Vienna; Vienna Austria, Department of Genetics; Portuguese Oncology Institute of Porto (IPO Porto); Porto Portugal, Department of Epidemiology; Columbia University; New York USA, Genetic Counseling Unit; Hereditary Cancer Program; IDIBELL (Bellvitge Biomedical Research Institute); Catalan Institute of Oncology, CIBERONC; Gran Via de l'Hospitalet; Barcelona Spain, Department of Health Sciences Research; Mayo Clinic; Rochester USA, Genetics and Computational Biology Department; QIMR Berghofer Medical Research Institute; Brisbane Australia, Department of Medicine; Magee-Womens Hospital; University of Pittsburgh School of Medicine; Pittsburgh USA, Program in Cancer Genetics; Departments of Human Genetics and Oncology; McGill University; Montreal Canada, Immunology and Molecular Oncology Unit; Veneto Institute of Oncology IOV - IRCCS; Padua Italy, Division of Human Genetics; Departments of Internal Medicine and Cancer Biology and Genetics; Comprehensive Cancer Center; The Ohio State University; Columbus USA, Clinical Genetics Research Laboratory, Dept. of Medicine; Memorial Sloan-Kettering Cancer Center; New York USA, Parkville Familial Cancer Centre; Royal Melbourne Hospital; Melbourne Australia, Department of Medical Oncology; Beth Israel Deaconess Medical Center; Massachusetts USA, Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands, Department of Genetics; University Medical Center; Groningen University; Groningen The Netherlands, Family Cancer Clinic; Netherlands Cancer Institute; Amsterdam The Netherlands, Department of Medical Genetics; University Medical Center; Utrecht The Netherlands, Center for Medical Genetics; Ghent University; Gent Belgium, Unit of Hereditary Cancer; Department of Epidemiology, Prevention and Special Functions; IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro; Genoa Italy, Institute of Human Genetics; Campus Virchov Klinikum; Berlin Germany, Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela; Spain, Departamento de Investigacion y de Tumores Mamarios del; Instituto Nacional de Cancerologia; Mexico City Mexico, Department of Oncology; Karolinska University Hospital; Stockholm Sweden, Institute of Genetic Medicine; Centre for Life; Newcastle Upon Tyne Hospitals NHS Trust; Newcastle upon Tyne UK, Oxford Regional Genetics Service; Churchill Hospital; Oxford UK, Department of Gynaecology and Obstetrics; University Hospital; Ulm Germany, Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands, Institute of Human Genetics; Regensburg University; Regensburg Germany, Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology); National Centre for Scientific Research “Demokritos”; Athens Greece, Unit of Medical Genetics, Department of Medical Oncology and Hematology; Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT); Milan Italy, Institute of Oncology; Rivka Ziv Medical Center; Zefat Israel, Magee-Womens Hospital; University of Pittsburgh School of Medicine; Pittsburgh USA, Institute of Human Genetics; University Leipzig; Leipzig Germany, Center for Medical Genetics; North Shore University Health System; Evanston USA, Medical Director, Center for Medical Genetics, NorthShore University HealthSystem, Clinical Assistant Professor of Medicine; University of Chicago Pritzker School of Medicine; Evanston USA, City of Hope Clinical Cancer Genomics Community Research Network; Duarte USA, Yorkshire Regional Genetics Service; Chapel Allerton Hospital; Leeds UK, Department of Clinical Genetics; Helsinki University Hospital; Helsinki Finland, Hereditary Cancer Clinic; Prince of Wales Hospital; Randwick Australia, Lunenfeld-Tanenbaum Research Institute; Toronto Canada, Laboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine; University of Iceland; Reykjavik Iceland, Department of Gynaecology & Oncology; Medical University of Vienna; Austria, Department of Medical Oncology; Vall d'Hebron University Hospital; Barcelona Spain, Division of Cancer Prevention and Genetics; Istituto Europeo di Oncologia (IEO); Milan Italy, Department of Gynaecology and Obstetrics; University Hospital Düsseldorf, Heinrich-Heine University; Düsseldorf Germany, Human Genetics Group and Genotyping Unit (CEGEN), Human Cancer Genetics Programme; Spanish National Cancer Research Centre (CNIO); Madrid Spain, The Institute of Oncology; Chaim Sheba Medical Center; Ramat Gan Israel, UCSF Cancer Genetics and Prevention Program; San Francisco USA, Department of Clinical Genetics; Maastricht University Medical Center; Maastricht The Netherlands, Unité de Prévention et d'Epidémiologie Génétique; Centre Léon Bérard, 28 rue Laënnec; Lyon France, N.N. Petrov Institute of Oncology; St. Petersburg Russia, Department of Clinical Genetics; Royal Devon & Exeter Hospital; Exeter UK, Service de Génétique; Institut Curie, 26 rue d'Ulm; Paris France, Department of Medicine; Huntsman Cancer Institute; Salt Lake City USA, Molecular Oncology Laboratory; Hospital Clinico San Carlos; Instituto de Investigación Sanitaria San Carlos (IdISSC); Centro Investigación Biomédica en Red de Cáncer (CIBERONC); Madrid Spain, Institute of Human Genetics; University Hospital of Schleswig-Holstein; Kiel Germany, Section of Molecular Genetics, Dept. of Laboratory Medicine; University Hospital of Pisa; Pisa Italy, Research Division; Peter MacCallum Cancer Centre; Melbourne Australia, CRCHU de Quebec-oncologie, Centre des maladies du sein Deschênes-Fabia; Hôpital du Saint-Sacrement; Sainte-Foy Canada, Lombardi Comprehensive Cancer Center; Georgetown University; Washington USA, Departments of Pediatrics and Medicine; Columbia University; New York USA, Department of Clinical Genetics, Family Cancer Clinic; Erasmus University Medical Center; Rotterdam The Netherlands, Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Sheffield UK, Department of Clinical Genetics; South Glasgow University Hospitals; Glasgow UK, Unité d'oncogénétique; ICO-Centre René Gauducheau; Saint Herblain France, Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area; Vall d'Hebron University Hospital; Barcelona Spain, Department of Gynaecology and Obstetrics; Ludwig-Maximilian University; Munich Germany, Cáncer Hereditario, Instituto de Biología y Genética Molecular, IBGM; Universidad de Valladolid; Valladolid Spain, Institute of Human Genetics; University of Münster; Münster Germany, Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; Nottingham UK, Oncogenetics Team; The Institute of Cancer Research and Royal Marsden NHS Foundation Trust; London UK, Department of Clinical Genetics; Lund University Hospital; Lund Sweden, Clinical Genetics; Guy's and St. Thomas’ NHS Foundation Trust; London UK, Department of Oncology, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark, Institute for Medical Informatics, Statistics and Epidemiology; University of Leipzig; Leipzig Germany, Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar; Technical University; Munich Germany, Genomic Medicine, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences; University of Manchester, Central Manchester University Hospitals NHS Foundation Trust; Manchester UK, Centre de Lutte Contre le Cancer Georges François Leclerc, France and Genomic and Immunotherapy Medical Institute; Dijon University Hospital; Dijon France, Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute); Barcelona Spain, Laboratoire de Génétique Chromosomique; Hôtel Dieu Centre Hospitalier; Chambéry France, Department of Cancer Epidemiology and Genetics; Masaryk Memorial Cancer Institute; Brno Czech Republic, Columbus Cancer Council, Ohio State University; Columbus USA, Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona); Catalan Institute of Oncology; Girona Spain, Oncogenetics Department; Barretos Cancer Hospital; Barretos Brazil, UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research; Jonsson Comprehensive Cancer Center; Los Angeles USA, Cancer Risk and Prevention Clinic; Dana-Farber Cancer Institute; Boston USA, Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics; University of Würzburg, Germany; Würzburg, Department of Clinical Genetics; Copenhagen Denmark, Service Régional Oncogénétique Poitou-Charentes; Centre Hospitalier; Niort France, Department of Molecular Medicine; University La Sapienza, and Istituto Pasteur - Fondazione Cenci-Bolognetti; Rome Italy, Bâtiment Cheney D; Centre Léon Bérard; Lyon France, Ontario Cancer Genetics Network: Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Toronto Canada, Department of Pathology and Laboratory Medicine; University of Kansas Medical Center; Kansas City USA, Clinical Genetics Branch, DCEG, NCI; NIH; Bethesda USA, Parkville Familial Cancer Centre; Peter MacCallum Cancer Centre; Melbourne Australia, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine; Vilnius University Hospital Santariskiu Clinics; Vilnius Lithuania, Department of Epidemiology, Cancer Prevention Institute of California; Fremont USA, Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute; Cedars-Sinai Medical Center; Los Angeles USA, Division of Molecular Pathology; Department of Pathology; Hong Kong Sanatorium & Hospital; Happy Valley Hong Kong, Department of Gynecology and Obstetrics; Medical Faculty and University Hospital Carl Gustav Carus; Dresden Germany, Research Department, Peter MacCallum Cancer Centre, Melbourne, Victoria; Australia and The Sir Peter MacCallum Department of Oncology University of Melbourne; Parkville Australia, Department of Surgery; Daerim St. Mary's Hospital; Seoul Korea, The Gyneco-Oncology Department; Chaim Sheba Medical Center; Ramat Gan Israel, Servicio de Genética-CIBERER U705; Hospital de la Santa Creu i Sant Pau; Barcelona Spain, The Feinstein Institute for Medical Research; Manhasset USA, Department of Laboratory Medicine and Pathology; and Health Sciences Research; Rochester USA, Department of Surgery; Soonchunhyang University and Seoul Hospital; Seoul Korea, Inserm U900, Institut Curie; PSL Research University; Paris France, Department of Oncology Radiumhemmet and Institution of Oncology and Patology; Karolinska University Hospital and Karolinska Institutet; Solna Sweden, Department of Health Sciences Research; Mayo Clinic; Scottsdale USA, Oncogénétique; Institut Bergonié; Bordeaux France, Clinical Genetics Branch, DCEG, NCI, NIH; Bethesda USA, Department of Gynecological Oncology and Clinical Cancer Genetics Program; University Of Texas MD Anderson Cancer Center; Houston USA, Department of Dermatology; University of Utah School of Medicine; Salt Lake City USA, Centre Antoine Lacassagne; Nice France, Laboratorio de Genética Molecular, Servicio de Genética; Hospital Universitario Cruces, BioCruces Health Research Institute; Barakaldo Spain, Department of Surgery; National Institute of Oncology; Budapest Hungary, Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands, Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands, Vilnius university Santariskiu hospital; National Center of Pathology; Vilnius Lithuania, NRG Oncology; Statistics and Data Management Center; Roswell Park Cancer Institute; Buffalo USA, Department of Cancer Prevention and Control; Roswell Park Cancer Institute; Buffalo USA, Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Canada, Department of Obstetrics and Gynecology; University of Helsinki and Helsinki University Hospital; HUS Finland, Cancer Genetics Service; Division of Medical Oncology; National Cancer Centre Singapore; Bukit Merah Singapore, Institute of Medical Genetics and Applied Genomics; University of Tuebingen; Tuebingen Germany, Molecular Oncology Research Center; Barretos Cancer Hospital; São Paulo Brazil, Cancer Genetics and Prevention Program; University of California San Francisco; San Francisco USA, Clinical Genetics Research Laboratory; Dept. of Medicine; Cancer Biology and Genetics; Memorial Sloan-Kettering Cancer Center; New York USA, Department of Clinical Genetics; Sahlgrenska University Hospital; Gothenburg Sweden, West Midlands Regional Genetics Service; Birmingham Women's Hospital Healthcare NHS Trust; Edgbaston UK, Human Genetics Group; Human Cancer Genetics Programme; Spanish National Cancer Research Centre (CNIO); Biomedical Network on Rare Diseases (CIBERER); Madrid Spain, Unit of Medical Genetics; Department of Biomedical; Experimental and Clinical Sciences; University of Florence; Florence Italy, Department of Medical Sciences; University of Turin; Turin Italy, Section of Molecular Diagnostics; Department of Biochemistry; Aalborg University Hospital; Aalborg Denmark, Department of Preventive Medicine; Seoul National University College of Medicine; Seoul Korea, IFOM; The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology; Milan Italy, Service de Génétique Clinique Chromosomique et Moléculaire; Hôpital Nord; St Etienne France, Unité d'Oncogénétique; CHU Arnaud de Villeneuve; Montpellier France, Unit of Molecular Bases of Genetic Risk and Genetic Testing; Department of Research; Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale Tumori (INT); Milan Italy, School of Women's and Children's Health; UNSW; Sydney Australia, Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden, Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, van Rensburg, Elizabeth J., Gronwald, Jacek, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa, Gutierrez-Barrera, Angelica, McGuffog, Lesley, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teulé, Alex, Hahnen, Eric, Thomas, Abigail, Parsons, Michael T., Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J., Hauke, Jan, van der Hout, Annemieke H., van der Kolk, Lizet E., Leslie, Goska, van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, von Wachenfeldt, Anna, Henderson, Alex, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Aalfs, Cora M., Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Hentschel, Julia, Hutten Selkirk, Christina G., Hulick, Peter J., Chenevix-Trench, Georgia, Spurdle, Amanda B., Abugattas, Julio, Antoniou, Antonis C., Nathanson, Katherine L., Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Hogervorst, Frans B.L., Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmaña, Judith, Barile, Monica, Honisch, Ellen, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valérie, Bonanni, Bernardo, Imyanitov, Evgeny N., Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Isaacs, Claudine, Chung, Wendy K., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Weitzel, Jeffrey N., Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans, Izatt, Louise, Ejlertsen, Bent, Engel, Christoph, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Izquierdo, Angel, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Jakubowska, Anna, Godwin, Andrew K., Greene, Mark H., James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Chan, TL, Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Couch, Fergus J., Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Machackova, Eva, Goldgar, David E., Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Kruse, Torben A., Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Palmero, Edenir Inêz, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Park, Sue Kyung, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J., Torres, Diana, Rantala, Johanna, [ 1 ] Harvard TH Chan Sch Publ Hlth, Boston, MA USA Show more [ 2 ] Chaim Sheba Med Ctr, Inst Human Genet, Susanne Levy Gertner Oncogenet Unit, IL-52621 Ramat Gan, Israel Show more [ 3 ] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Show more [ 4 ] German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany Show more [ 5 ] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 6 ] Hong Kong Sanat & Hosp, Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Hong Kong, Peoples R China Show more [ 7 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary Show more [ 8 ] Univ Buenos Aires, CONICET, Fac Med, INBIOMED, Buenos Aires, DF, Argentina Show more [ 9 ] CEMIC, Dept Clin Chem, Med Direct, Buenos Aires, DF, Argentina [ 10 ] Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia Show more [ 11 ] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Show more [ 12 ] City Hope Canc Ctr, Div Clin Canc Genom, Duarte, CA USA [ 13 ] Hong Kong Sanat & Hosp, Dept Pathol, Div Mol Pathol, Happy Valley, Hong Kong, Peoples R China [ 14 ] Dept Lab Med & Pathol, Rochester, MN USA Show more [ 15 ] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA Show more [ 16 ] Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo, Brazil Show more [ 17 ] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea Show more [ 18 ] Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Seoul, South Korea Show more [ 19 ] Seoul Natl Univ, Canc Res Ctr, Seoul, South Korea Show more [ 20 ] Pontificia Univ Javeriana, Inst Human Genet, Bogota, Colombia Show more [ 21 ] Univ Pretoria, Dept Genet, Canc Genet Lab, Pretoria, South Africa Show more [ 22 ] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England Show more [ 23 ] QIMR Berghofer Med Res Inst, Genet & Computat Biol Dept, Brisbane, Qld, Australia [ 24 ] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands [ 25 ] City Hope Clin Canc Genom Community Res Network, D, Harvard TH Chan School of Public Health and Dana Farber Cancer Institute; Boston USA, The Susanne Levy Gertner Oncogenetics Unit; Institute of Human Genetics; Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine; Tel-Aviv University; Tel-Aviv Israel, Molecular Genetics of Breast Cancer; German Cancer Research Center (DKFZ); Heidelberg Germany, Center for Clinical Cancer Genetics and Global Health; University of Chicago; Chicago USA, The Hong Kong Hereditary Breast Cancer Family Registry; Cancer Genetics Center; Hong Kong Sanatorium and Hospital; Hong Kong China, Department of Molecular Genetics; National Institute of Oncology; Budapest Hungary, INBIOMED; Faculty of Medicine, University of Buenos Aires/CONICET and CEMIC, Department of Clinical Chemistry; Medical Direction; Buenos Aires Argentina, Cancer Research Initiatives Foundation; Sime Darby Medical Centre; Subang Jaya Malaysia, Department of Clinical Genetics; Odense University Hospital; Odense Denmark, Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty; University Hospital Cologne; Cologne Germany, Clinical Genetics Services; Dept. of Medicine; Memorial Sloan-Kettering Cancer Center; New York USA, Division of Gynecologic Oncology; North Shore University Health System; University of Chicago; Evanston USA, All Wales Medical Genetics Services; University Hospital of Wales; Cardiff UK, Department of Gynecology; Vilnius University Hospital Santariskiu Clinics; Centre of Woman's Health and pathology; Vilnius Lithuania, Center for Genomic Medicine; Rigshospitalet; University of Copenhagen; Copenhagen Denmark, Clinical Cancer Genetics Program; Division of Human Genetics; Department of Internal Medicine; The Comprehensive Cancer Center; The Ohio State University; Columbus USA, Cancer Genetics Laboratory, Department of Genetics; University of Pretoria; South Africa, Department of Genetics and Pathology; Pomeranian Medical University; Szczecin Poland, Department of Medicine, Abramson Cancer Center; Perelman School of Medicine at the University of Pennsylvania; Philadelphia USA, Department of Internal Medicine; Division of Oncology; University of Kansas Medical Center; Westwood USA, North East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Trust; London UK, Genomics Center; Centre Hospitalier Universitaire de Québec Research Center and Laval University; Quebec City Canada, Dept of OB/GYN and Comprehensive Cancer Center; Medical University of Vienna; Vienna Austria, Department of Clinical Genetics; Aarhus University Hospital; Aarhus N Denmark, Division of Clinical Cancer Genomics; City of Hope Cancer Center; California USA, Medical Genetics Unit; University of London; St George's UK, Département Oncologie Génétique; Prévention et Dépistage; Institut Paoli-Calmettes; Marseille Medical School-AM University; Marseille France, Department of Breast Medical Oncology and Clinical Cancer Genetics Program; University Of Texas MD Anderson Cancer Center; Houston USA, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care; University of Cambridge; Cambridge UK, Department of Population Sciences; Beckman Research Institute of City of Hope; Duarte USA, Institute of Cell and Molecular Pathology; Hannover Medical School; Hannover Germany, Institute of Human Genetics; University Hospital Heidelberg; Heidelberg Germany, National Human Genome Research Institute; National Institutes of Health; Bethesda USA, Dept of OB/GYN, Comprehensive Cancer Center; Medical University of Vienna; Vienna Austria, Department of Genetics; Portuguese Oncology Institute of Porto (IPO Porto); Porto Portugal, Department of Epidemiology; Columbia University; New York USA, Genetic Counseling Unit; Hereditary Cancer Program; IDIBELL (Bellvitge Biomedical Research Institute); Catalan Institute of Oncology, CIBERONC; Gran Via de l'Hospitalet; Barcelona Spain, Department of Health Sciences Research; Mayo Clinic; Rochester USA, Genetics and Computational Biology Department; QIMR Berghofer Medical Research Institute; Brisbane Australia, Department of Medicine; Magee-Womens Hospital; University of Pittsburgh School of Medicine; Pittsburgh USA, Program in Cancer Genetics; Departments of Human Genetics and Oncology; McGill University; Montreal Canada, Immunology and Molecular Oncology Unit; Veneto Institute of Oncology IOV - IRCCS; Padua Italy, Division of Human Genetics; Departments of Internal Medicine and Cancer Biology and Genetics; Comprehensive Cancer Center; The Ohio State University; Columbus USA, Clinical Genetics Research Laboratory, Dept. of Medicine; Memorial Sloan-Kettering Cancer Center; New York USA, Parkville Familial Cancer Centre; Royal Melbourne Hospital; Melbourne Australia, Department of Medical Oncology; Beth Israel Deaconess Medical Center; Massachusetts USA, Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands, Department of Genetics; University Medical Center; Groningen University; Groningen The Netherlands, Family Cancer Clinic; Netherlands Cancer Institute; Amsterdam The Netherlands, Department of Medical Genetics; University Medical Center; Utrecht The Netherlands, Center for Medical Genetics; Ghent University; Gent Belgium, Unit of Hereditary Cancer; Department of Epidemiology, Prevention and Special Functions; IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro; Genoa Italy, Institute of Human Genetics; Campus Virchov Klinikum; Berlin Germany, Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela; Spain, Departamento de Investigacion y de Tumores Mamarios del; Instituto Nacional de Cancerologia; Mexico City Mexico, Department of Oncology; Karolinska University Hospital; Stockholm Sweden, Institute of Genetic Medicine; Centre for Life; Newcastle Upon Tyne Hospitals NHS Trust; Newcastle upon Tyne UK, Oxford Regional Genetics Service; Churchill Hospital; Oxford UK, Department of Gynaecology and Obstetrics; University Hospital; Ulm Germany, Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands, Institute of Human Genetics; Regensburg University; Regensburg Germany, Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology); National Centre for Scientific Research “Demokritos”; Athens Greece, Unit of Medical Genetics, Department of Medical Oncology and Hematology; Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT); Milan Italy, Institute of Oncology; Rivka Ziv Medical Center; Zefat Israel, Magee-Womens Hospital; University of Pittsburgh School of Medicine; Pittsburgh USA, Institute of Human Genetics; University Leipzig; Leipzig Germany, Center for Medical Genetics; North Shore University Health System; Evanston USA, Medical Director, Center for Medical Genetics, NorthShore University HealthSystem, Clinical Assistant Professor of Medicine; University of Chicago Pritzker School of Medicine; Evanston USA, City of Hope Clinical Cancer Genomics Community Research Network; Duarte USA, Yorkshire Regional Genetics Service; Chapel Allerton Hospital; Leeds UK, Department of Clinical Genetics; Helsinki University Hospital; Helsinki Finland, Hereditary Cancer Clinic; Prince of Wales Hospital; Randwick Australia, Lunenfeld-Tanenbaum Research Institute; Toronto Canada, Laboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine; University of Iceland; Reykjavik Iceland, Department of Gynaecology & Oncology; Medical University of Vienna; Austria, Department of Medical Oncology; Vall d'Hebron University Hospital; Barcelona Spain, Division of Cancer Prevention and Genetics; Istituto Europeo di Oncologia (IEO); Milan Italy, Department of Gynaecology and Obstetrics; University Hospital Düsseldorf, Heinrich-Heine University; Düsseldorf Germany, Human Genetics Group and Genotyping Unit (CEGEN), Human Cancer Genetics Programme; Spanish National Cancer Research Centre (CNIO); Madrid Spain, The Institute of Oncology; Chaim Sheba Medical Center; Ramat Gan Israel, UCSF Cancer Genetics and Prevention Program; San Francisco USA, Department of Clinical Genetics; Maastricht University Medical Center; Maastricht The Netherlands, Unité de Prévention et d'Epidémiologie Génétique; Centre Léon Bérard, 28 rue Laënnec; Lyon France, N.N. Petrov Institute of Oncology; St. Petersburg Russia, Department of Clinical Genetics; Royal Devon & Exeter Hospital; Exeter UK, Service de Génétique; Institut Curie, 26 rue d'Ulm; Paris France, Department of Medicine; Huntsman Cancer Institute; Salt Lake City USA, Molecular Oncology Laboratory; Hospital Clinico San Carlos; Instituto de Investigación Sanitaria San Carlos (IdISSC); Centro Investigación Biomédica en Red de Cáncer (CIBERONC); Madrid Spain, Institute of Human Genetics; University Hospital of Schleswig-Holstein; Kiel Germany, Section of Molecular Genetics, Dept. of Laboratory Medicine; University Hospital of Pisa; Pisa Italy, Research Division; Peter MacCallum Cancer Centre; Melbourne Australia, CRCHU de Quebec-oncologie, Centre des maladies du sein Deschênes-Fabia; Hôpital du Saint-Sacrement; Sainte-Foy Canada, Lombardi Comprehensive Cancer Center; Georgetown University; Washington USA, Departments of Pediatrics and Medicine; Columbia University; New York USA, Department of Clinical Genetics, Family Cancer Clinic; Erasmus University Medical Center; Rotterdam The Netherlands, Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Sheffield UK, Department of Clinical Genetics; South Glasgow University Hospitals; Glasgow UK, Unité d'oncogénétique; ICO-Centre René Gauducheau; Saint Herblain France, Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area; Vall d'Hebron University Hospital; Barcelona Spain, Department of Gynaecology and Obstetrics; Ludwig-Maximilian University; Munich Germany, Cáncer Hereditario, Instituto de Biología y Genética Molecular, IBGM; Universidad de Valladolid; Valladolid Spain, Institute of Human Genetics; University of Münster; Münster Germany, Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; Nottingham UK, Oncogenetics Team; The Institute of Cancer Research and Royal Marsden NHS Foundation Trust; London UK, Department of Clinical Genetics; Lund University Hospital; Lund Sweden, Clinical Genetics; Guy's and St. Thomas’ NHS Foundation Trust; London UK, Department of Oncology, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark, Institute for Medical Informatics, Statistics and Epidemiology; University of Leipzig; Leipzig Germany, Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar; Technical University; Munich Germany, Genomic Medicine, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences; University of Manchester, Central Manchester University Hospitals NHS Foundation Trust; Manchester UK, Centre de Lutte Contre le Cancer Georges François Leclerc, France and Genomic and Immunotherapy Medical Institute; Dijon University Hospital; Dijon France, Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute); Barcelona Spain, Laboratoire de Génétique Chromosomique; Hôtel Dieu Centre Hospitalier; Chambéry France, Department of Cancer Epidemiology and Genetics; Masaryk Memorial Cancer Institute; Brno Czech Republic, Columbus Cancer Council, Ohio State University; Columbus USA, Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona); Catalan Institute of Oncology; Girona Spain, Oncogenetics Department; Barretos Cancer Hospital; Barretos Brazil, UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research; Jonsson Comprehensive Cancer Center; Los Angeles USA, Cancer Risk and Prevention Clinic; Dana-Farber Cancer Institute; Boston USA, Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics; University of Würzburg, Germany; Würzburg, Department of Clinical Genetics; Copenhagen Denmark, Service Régional Oncogénétique Poitou-Charentes; Centre Hospitalier; Niort France, Department of Molecular Medicine; University La Sapienza, and Istituto Pasteur - Fondazione Cenci-Bolognetti; Rome Italy, Bâtiment Cheney D; Centre Léon Bérard; Lyon France, Ontario Cancer Genetics Network: Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Toronto Canada, Department of Pathology and Laboratory Medicine; University of Kansas Medical Center; Kansas City USA, Clinical Genetics Branch, DCEG, NCI; NIH; Bethesda USA, Parkville Familial Cancer Centre; Peter MacCallum Cancer Centre; Melbourne Australia, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine; Vilnius University Hospital Santariskiu Clinics; Vilnius Lithuania, Department of Epidemiology, Cancer Prevention Institute of California; Fremont USA, Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute; Cedars-Sinai Medical Center; Los Angeles USA, Division of Molecular Pathology; Department of Pathology; Hong Kong Sanatorium & Hospital; Happy Valley Hong Kong, Department of Gynecology and Obstetrics; Medical Faculty and University Hospital Carl Gustav Carus; Dresden Germany, Research Department, Peter MacCallum Cancer Centre, Melbourne, Victoria; Australia and The Sir Peter MacCallum Department of Oncology University of Melbourne; Parkville Australia, Department of Surgery; Daerim St. Mary's Hospital; Seoul Korea, The Gyneco-Oncology Department; Chaim Sheba Medical Center; Ramat Gan Israel, Servicio de Genética-CIBERER U705; Hospital de la Santa Creu i Sant Pau; Barcelona Spain, The Feinstein Institute for Medical Research; Manhasset USA, Department of Laboratory Medicine and Pathology; and Health Sciences Research; Rochester USA, Department of Surgery; Soonchunhyang University and Seoul Hospital; Seoul Korea, Inserm U900, Institut Curie; PSL Research University; Paris France, Department of Oncology Radiumhemmet and Institution of Oncology and Patology; Karolinska University Hospital and Karolinska Institutet; Solna Sweden, Department of Health Sciences Research; Mayo Clinic; Scottsdale USA, Oncogénétique; Institut Bergonié; Bordeaux France, Clinical Genetics Branch, DCEG, NCI, NIH; Bethesda USA, Department of Gynecological Oncology and Clinical Cancer Genetics Program; University Of Texas MD Anderson Cancer Center; Houston USA, Department of Dermatology; University of Utah School of Medicine; Salt Lake City USA, Centre Antoine Lacassagne; Nice France, Laboratorio de Genética Molecular, Servicio de Genética; Hospital Universitario Cruces, BioCruces Health Research Institute; Barakaldo Spain, Department of Surgery; National Institute of Oncology; Budapest Hungary, Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands, Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands, Vilnius university Santariskiu hospital; National Center of Pathology; Vilnius Lithuania, NRG Oncology; Statistics and Data Management Center; Roswell Park Cancer Institute; Buffalo USA, Department of Cancer Prevention and Control; Roswell Park Cancer Institute; Buffalo USA, Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Canada, Department of Obstetrics and Gynecology; University of Helsinki and Helsinki University Hospital; HUS Finland, Cancer Genetics Service; Division of Medical Oncology; National Cancer Centre Singapore; Bukit Merah Singapore, Institute of Medical Genetics and Applied Genomics; University of Tuebingen; Tuebingen Germany, Molecular Oncology Research Center; Barretos Cancer Hospital; São Paulo Brazil, Cancer Genetics and Prevention Program; University of California San Francisco; San Francisco USA, Clinical Genetics Research Laboratory; Dept. of Medicine; Cancer Biology and Genetics; Memorial Sloan-Kettering Cancer Center; New York USA, Department of Clinical Genetics; Sahlgrenska University Hospital; Gothenburg Sweden, West Midlands Regional Genetics Service; Birmingham Women's Hospital Healthcare NHS Trust; Edgbaston UK, Human Genetics Group; Human Cancer Genetics Programme; Spanish National Cancer Research Centre (CNIO); Biomedical Network on Rare Diseases (CIBERER); Madrid Spain, Unit of Medical Genetics; Department of Biomedical; Experimental and Clinical Sciences; University of Florence; Florence Italy, Department of Medical Sciences; University of Turin; Turin Italy, Section of Molecular Diagnostics; Department of Biochemistry; Aalborg University Hospital; Aalborg Denmark, Department of Preventive Medicine; Seoul National University College of Medicine; Seoul Korea, IFOM; The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology; Milan Italy, Service de Génétique Clinique Chromosomique et Moléculaire; Hôpital Nord; St Etienne France, Unité d'Oncogénétique; CHU Arnaud de Villeneuve; Montpellier France, Unit of Molecular Bases of Genetic Risk and Genetic Testing; Department of Research; Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale Tumori (INT); Milan Italy, School of Women's and Children's Health; UNSW; Sydney Australia, Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden, Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, van Rensburg, Elizabeth J., Gronwald, Jacek, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa, Gutierrez-Barrera, Angelica, McGuffog, Lesley, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teulé, Alex, Hahnen, Eric, Thomas, Abigail, Parsons, Michael T., Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J., Hauke, Jan, van der Hout, Annemieke H., van der Kolk, Lizet E., Leslie, Goska, van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, von Wachenfeldt, Anna, Henderson, Alex, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Aalfs, Cora M., Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Hentschel, Julia, Hutten Selkirk, Christina G., Hulick, Peter J., Chenevix-Trench, Georgia, Spurdle, Amanda B., Abugattas, Julio, Antoniou, Antonis C., Nathanson, Katherine L., Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Hogervorst, Frans B.L., Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmaña, Judith, Barile, Monica, Honisch, Ellen, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valérie, Bonanni, Bernardo, Imyanitov, Evgeny N., Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Isaacs, Claudine, Chung, Wendy K., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Weitzel, Jeffrey N., Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans, Izatt, Louise, Ejlertsen, Bent, Engel, Christoph, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Izquierdo, Angel, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Jakubowska, Anna, Godwin, Andrew K., Greene, Mark H., James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Chan, TL, Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Couch, Fergus J., Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Machackova, Eva, Goldgar, David E., Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Kruse, Torben A., Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Palmero, Edenir Inêz, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Park, Sue Kyung, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J., Torres, Diana, and Rantala, Johanna
Abstract: To access publisher's full text version of this article click on the hyperlink below, The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

8. A Clinical Research Studying Interventions for Nighttime Fears in Preschool Children

Author: alan apter, Director of psychological medicine department at Schneider; Professor at Sackler School of medicine
Published: 2015

9. Saving and Empowering Young Lives in Europe (Israel) (SEYLE-ISRAEL)

Author: alan apter, Director of psychological medicine department at Schneider; Professor at Sackler School of medicine
Published: 2014

10. Catecholamine outflow from mouse and rat brain slice preparations evoked by nicotinic acetylcholine receptor activation and electrical field stimulation

Author: J. M. McIntosh, Jean-Pierre Changeux, Avi Orr-Urtreger, Sigismund Huck, Petra Scholze, Center for Brain Research [Vienna, Austria], Medizinische Universität Wien = Medical University of Vienna, The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel Aviv University (TAU)-Israel and Sackler School of Medicine, Collège de France (CdF (institution)), Department of Biology [Utah], University of Utah, Center for Brain Research, and Tel Aviv University [Tel Aviv]-Israel and Sackler School of Medicine
Subjects: Male, MESH: Hippocampus, Dopamine, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Quinolizines, Neocortex, MESH: Rats, Sprague-Dawley, Receptors, Nicotinic, Hippocampus, MESH: Mice, Knockout, MESH: Nicotine, MESH: Corpus Striatum, MESH: Dose-Response Relationship, Drug, Rats, Sprague-Dawley, Mice, Norepinephrine, MESH: Neocortex, 0302 clinical medicine, Catecholamines, MESH: Animals, Nicotinic Agonists, Catecholaminergic, Mice, Knockout, 0303 health sciences, Brain, MESH: Electric Stimulation, MESH: Protein Subunits, Research Papers, Azocines, Nicotinic acetylcholine receptor, Nicotinic agonist, medicine.anatomical_structure, MESH: Receptors, Nicotinic, Female, Dimethylphenylpiperazinium Iodide, Quinolizines, medicine.drug, medicine.medical_specialty, Nicotine, MESH: Rats, Tetrodotoxin, MESH: Dopamine, Biology, In Vitro Techniques, 03 medical and health sciences, MESH: Brain, Slice preparation, Alkaloids, MESH: Alkaloids, MESH: Mice, Inbred C57BL, Internal medicine, MESH: Norepinephrine, MESH: Nicotinic Agonists, medicine, MESH: Catecholamines, Animals, MESH: Mice, 030304 developmental biology, Acetylcholine receptor, Pharmacology, Dose-Response Relationship, Drug, MESH: Dimethylphenylpiperazinium Iodide, Corpus Striatum, Electric Stimulation, MESH: Tetrodotoxin, MESH: Male, Rats, Mice, Inbred C57BL, Protein Subunits, Endocrinology, nervous system, Catecholamine, MESH: Azocines, MESH: Female, 030217 neurology & neurosurgery
Abstract: Background and purpose: Mice with targeted deletions of neuronal nicotinic acetylcholine receptor (nAChR) subunit genes are valuable models to study nAChR function such as catecholamine outflow by presynaptic receptor activation. Contrary to the rat, our present knowledge on presynaptic nAChRs in mice primarily relies on observations made with synaptosomes. We have now used brain slices to investigate nicotine-induced catecholamine outflow in wild type (WT) and nAChR (b2 and a5) knockout mice for a comparison with rat brain slice preparations. Experimental approach: Brain slices from rat and mouse hippocampus, parieto-occipital neocortex, and corpus striatum were loaded with either [ 3 H]-noradrenaline or [ 3 H]-dopamine. We provoked catecholamine outflow by electrical field stimulation and nicotinic agonists. Key results: When set in relation to electrical field stimulation, nicotine-evoked catecholamine release was sizeable in the striatum but low in the neocortex of both rats and mice. [ 3 H]-noradrenaline outflow was, on the other hand, substantial in the rat but low in the mouse hippocampus. About 10% (or less) of nicotine-induced catecholamine release persisted in the presence of tetrodotoxin in all our preparations. Conclusions and implications: Targeted deletion of the b2 subunit gene essentially abolished the effect of nicotine, indicating that this subunit is an essential constituent of nAChRs that indirectly (via action potentials) induce catecholamine release from hippocampal and striatal slices in mice. The impact of nAChRs in catecholaminergic projection areas differs between species and has thus to be considered when extrapolating results from animal models to human conditions. British Journal of Pharmacology (2007) 151, 414–422; doi:10.1038/sj.bjp.0707236; published online 2 April 2007
Published: 2007
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11. Evaluating the suitability of nicotinic acetylcholine receptor antibodies for standard immunodetection procedures

Author: Moser, N., Mechawar, N., Jones, I., Gochberg-Sarver, A., Orr-Urtreger, A., Plomann, M., Salas, R., Molles, B., Marubio, L., Roth, U., Maskos, Uwe, Winzer-Serhan, U., Bourgeois, J.-P., Le Sourd, A.-M., De Biasi, M., Schröder, H., Lindstrom, J., Maelicke, A., Changeux, J.-P., Wevers, A., Department II of Anatomy, University of Cologne, Récepteurs et Cognition (RC), Collège de France (CdF (institution))-Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Department of Biology and Biochemistry, University of Bath [Bath], The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel Aviv University (TAU)-Israel and Sackler School of Medicine, Center of Biochemistry II, Center for Molecular Medicine (CMMC), Department of Neuroscience, Baylor College of Medicine, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Neurobiology and Anatomy, University of Texas, The University of Texas Health Science Center at Houston (UTHealth), Department of Neuroscience and Experimental Therapeutics, Texas A&M University System, Texas A, Department of Neuroscience, Medical School of the University of Pennsylvania, Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania, Department of Physiological Chemistry and Pathobiochemistry, Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Collège de France (CdF (institution)), Collège de France (CdF (institution))-Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Tel Aviv University [Tel Aviv]-Israel and Sackler School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], and Johannes Gutenberg - Universität Mainz (JGU)
Subjects: Male, MESH: Hippocampus, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Blotting, Western, MESH: Neurons, Receptors, Nicotinic, MESH: Mice, Knockout, Hippocampus, Synaptic Transmission, MESH: Neurochemistry, MESH: Animals, Newborn, Antibodies, Mice, MESH: Mice, Inbred C57BL, Antibody Specificity, MESH: Bungarotoxins, MESH: Synaptic Transmission, MESH: Blotting, Western, Animals, MESH: Animals, Electrophoresis, Gel, Two-Dimensional, MESH: Antibody Specificity, MESH: Mice, Cerebral Cortex, Mice, Knockout, Neurons, MESH: Acetylcholine, MESH: Antibodies, MESH: Immunohistochemistry, Neurochemistry, MESH: Electrophoresis, Gel, Two-Dimensional, MESH: Protein Subunits, Bungarotoxins, Immunohistochemistry, MESH: Cerebral Cortex, MESH: Male, Acetylcholine, Mice, Inbred C57BL, Protein Subunits, Animals, Newborn, MESH: Receptors, Nicotinic, Female, MESH: Female
Abstract: International audience; Nicotinic acetylcholine receptors play important roles in numerous cognitive processes as well as in several debilitating central nervous system (CNS) disorders. In order to fully elucidate the diverse roles of nicotinic acetylcholine receptors in CNS function and dysfunction, a detailed knowledge of their cellular and subcellular localizations is essential. To date, methods to precisely localize nicotinic acetylcholine receptors in the CNS have predominantly relied on the use of anti-receptor subunit antibodies. Although data obtained by immunohistology and immunoblotting are generally in accordance with ligand binding studies, some discrepancies remain, in particular with electrophysiological findings. In this context, nicotinic acetylcholine receptor subunit-deficient mice should be ideal tools for testing the specificity of subunit-directed antibodies. Here, we used standard protocols for immunohistochemistry and western blotting to examine the antibodies raised against the alpha3-, alpha4-, alpha7-, beta2-, and beta4-nicotinic acetylcholine receptor subunits on brain tissues of the respective knock-out mice. Unexpectedly, for each of the antibodies tested, immunoreactivity was the same in wild-type and knock-out mice. These data imply that, under commonly used conditions, these antibodies are not suited for immunolocalization. Thus, particular caution should be exerted with regards to the experimental approach used to visualize nicotinic acetylcholine receptors in the brain.
Published: 2007
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12. The centenary of the Harris–Benedict equations: How to assess energy requirements best? Recommendations from the ESPEN expert group

Author: Eric Fontaine, Marian A. E. de van der Schueren, Alessandro Laviano, Claude Pichard, Pierre Singer, Michael Hiesmayr, Dileep N. Lobo, Moïse Coëffier, Itai Bendavid, Tommy Cederholm, Rocco Barazzoni, Tel Aviv University [Tel Aviv], Gastrointestinal Surgery, Nottingham Digestive Diseases Centre, National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham University Hospitals, Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy., Department of Public Health and Caring Sciences, Clinical Nutrition and Metabolism, Uppsala University, Uppsala, Sweden, Theme Ageing, Karolinska University Hospital, Stockholm, Sweden., Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de nutrition [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre d'Investigation Clinique [CHU Rouen] (CIC Rouen), Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Nutrition and Dietetics, HAN University of Applied Sciences, School of Allied Health, Nijmegen, the Netherlands., Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Division of Cardiac, Thoracic, Vascular Anesthesia and Intensive Care Medicine, Medical University of Vienna, Waehringerguertel 18-20, 1090 Vienna, Austria., Department of Translational and Precision Medicine, Sapienza University, Rome, Italy., Clinical Nutrition, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, 1211 Geneva 14, Switzerland., Department of General Intensive Care and Institute for Nutrition Research, Rabin Medical Center, Beilinson Hospital, Sackler School of Medicine, Tel Aviv, Bendavid, I., Lobo, D. N., Barazzoni, R., Cederholm, T., Coeffier, M., de van der Schueren, M., Fontaine, E., Hiesmayr, M., Laviano, A., Pichard, C., Singer, P., douville, sabine, Tel Aviv University (TAU), Università degli studi di Trieste = University of Trieste, Uppsala University, Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Charles Nicolle [Rouen], and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen
Subjects: Male, 0301 basic medicine, Critical Illness, Energy (esotericism), Energy requirement, 030209 endocrinology & metabolism, Indirect calorimetry, Energy expenditure, Energy requirements, Nutritional prescriptions, Predictive equations, Critical Care and Intensive Care Medicine, Nutrition Policy, 03 medical and health sciences, Oxygen Consumption, 0302 clinical medicine, Neoplasms, Humans, Medicine, Obesity, Medical prescription, Aged, ddc:616, Estimation, Nutritional prescription, 030109 nutrition & dietetics, Nutrition and Dietetics, Actuarial science, business.industry, Harris–Benedict equation, Body Weight, Nutritional Requirements, Calorimetry, Indirect, Expert group, 3. Good health, Variety (cybernetics), [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, Surgical Procedures, Operative, Body Constitution, Female, Basal Metabolism, Energy Intake, Energy Metabolism, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: Background & aims: The year 2019 marked the centenary of the publication of the Harris and Benedict equations for estimation of energy expenditure. In October 2019 a Scientific Symposium was organized by the European Society for Clinical Nutrition and Metabolism (ESPEN) in Vienna, Austria, to celebrate this historical landmark, looking at what is currently known about the estimation and measurement of energy expenditure. Methods: Current evidence was discussed during the symposium, including the scientific basis and clinical knowledge, and is summarized here to assist with the estimation and measurement of energy requirements that later translate into energy prescription. Results: In most clinical settings, the majority of predictive equations have low to moderate performance, with the best generally reaching an accuracy of no more than 70%, and often lead to large errors in estimating the true needs of patients. Generally speaking, the addition of body composition measurements did not add to the accuracy of predictive equations. Indirect calorimetry is the most reliable method to measure energy expenditure and guide energy prescription, but carries inherent limitations, greatly restricting its use in real life clinical practice. Conclusions: While the limitations of predictive equations are clear, their use is still the mainstay in clinical practice. It is imperative to recognize specific patient populations for whom a specific equation should be preferred. When available, the use of indirect calorimetry is advised in a variety of clinical settings, aiming to avoid under-as well as overfeeding. (C)2020 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.
Published: 2021
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13. Cobimetinib in Pediatric and Young Adult Patients with Relapsed or Refractory Solid Tumors (iMATRIX-cobi): A Multicenter, Phase I/II Study

Author: Tanya Trippett, Helen Toledano, Quentin Campbell Hewson, Arnauld Verschuur, Anne-Marie Langevin, Isabelle Aerts, Lisa Howell, Soledad Gallego, Claudia Rossig, Amy Smith, Darshak Patel, Leonardo R. Pereira, Sravanthi Cheeti, Luna Musib, Katherine E. Hutchinson, Clare Devlin, Ronald Bernardi, Birgit Geoerger, Institut Català de la Salut, [Trippett T] Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, USA. [Toledano H] Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. [Campbell Hewson Q] Department of Paediatric and Adolescent Oncology, The Great North Children’s Hospital, Newcastle Upon Tyne, UK. [Verschuur A] Assistance Publique-Hopitaux de Marseille, Pediatric Oncology, Timone Children’s Hospital, Marseille, France. [Langevin AM] Department of Pediatrics, UT Health San Antonio, San Antonio, TX, USA. [Aerts I] Oncology Center SIREDO, Institut Curie, PSL Research University, Paris, France. [Gallego S] Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Adult, Cancer Research, Adolescent, Maximum Tolerated Dose, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Other subheadings::Other subheadings::/drug therapy [Other subheadings], Pediatrics, neoplasias [ENFERMEDADES], Young Adult, Piperidines, Neoplasms, Humans, fenómenos fisiológicos::fenómenos farmacológicos y toxicológicos::farmacocinética [FENÓMENOS Y PROCESOS], Pharmacology (medical), Enzyme Inhibitors, Child, Farmacocinètica, Càncer - Tractament, Glioma, Investigative Techniques::Toxicity Tests::Maximum Tolerated Dose [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Posologia, Neoplasms [DISEASES], Oncology, Physiological Phenomena::Pharmacological and Toxicological Phenomena::Pharmacokinetics [PHENOMENA AND PROCESSES], Child, Preschool, técnicas de investigación::pruebas de toxicidad::dosis máxima tolerada [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Azetidines, Neoplasm Recurrence, Local, Tablets
Abstract: Cobimetinib; Pediatrics; Refractory Solid Tumors Cobimetinib; Pediatria; Tumors sòlids refractaris Cobimetinib; Pediatría; Tumores sólidos refractarios Background: The MAPK pathway is an emerging target across a number of adult and pediatric tumors. Targeting the downstream effector of MAPK, MEK1, is a proposed strategy to control the growth of MAPK-dependent tumors. Objective: iMATRIX-cobi assessed the safety, pharmacokinetics, and anti-tumor activity of cobimetinib, a highly selective MEK inhibitor, in children and young adults with relapsed/refractory solid tumors. Patients and methods: This multicenter Phase I/II study enrolled patients aged 6 months to < 30 years with solid tumors with known/expected MAPK pathway involvement. Patients received cobimetinib tablet or suspension formulation on Days 1-21 of a 28-day cycle. Dose escalation followed a rolling 6 design. The primary endpoint was safety; secondary endpoints were pharmacokinetics and anti-tumor activity. Results: Of 56 enrolled patients (median age 9 years [range 3-29]), 18 received cobimetinib tablets and 38 cobimetinib suspension. Most common diagnoses were low-grade glioma (LGG; n = 32, including n = 12 in the expansion cohort) and plexiform neurofibroma within neurofibromatosis type 1 (n = 12). Six patients (11 %) experienced dose-limiting toxicities (including five ocular toxicity events), which established a pediatric recommended Phase II dose (RP2D) of 0.8 mg/kg tablet and 1.0 mg/kg suspension. Most frequently reported treatment-related adverse events were gastrointestinal and skin disorders. Steady state mean exposure (Cmax, AUC0-24) of cobimetinib at the RP2D (1.0 mg/kg suspension) was ~ 50 % lower than in adults receiving the approved 60 mg/day dose. Overall response rate was 5.4 % (3/56; all partial responses in patients with LGG). Conclusions: The safety profile of cobimetinib in pediatrics was similar to that reported in adults. Clinical activity was observed in LGG patients with known/suspected MAPK pathway activation. Cobimetinib combination regimens may be required to improve response rates in this pediatric population.
Published: 2022

14. The current state of laboratory mycology and access to antifungal treatment in Europe: a European Confederation of Medical Mycology survey

Author: Jon Salmanton-García, Martin Hoenigl, Jean-Pierre Gangneux, Esther Segal, Ana Alastruey-Izquierdo, Sevtap Arikan Akdagli, Katrien Lagrou, Volkan Özenci, Antonio Vena, Oliver A Cornely, Universität zu Köln = University of Cologne, Medical University of Graz, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique [EHESP] (EHESP), Kfar Saba and Sackler School of Medicine, Instituto de Salud Carlos III [Madrid] (ISC), Faculty of Medicine [Hacettepe University], Hacettepe University = Hacettepe Üniversitesi, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Karolinska Institute, and Università degli studi di Genova = University of Genoa (UniGe)
Subjects: Microbiology (medical), Europe, Echinocandins, Infectious Diseases, Antifungal Agents, Virology, [SDV]Life Sciences [q-bio], Humans, Mycology, Microbiology, Invasive Fungal Infections
Abstract: Access to the appropriate tools is crucial for early diagnosis and clinical management of invasive fungal infections. This Review aims to describe the invasive fungal infection diagnostic capacity of Europe to better understand the status and the most pressing aspects that need improvement. To our knowledge, this is the first time that the mycological diagnostic capability and access to antifungal treatments of institutions has been evaluated at a pan-European level. Between Nov 1, 2021, and Jan 31, 2022, 388 institutions in Europe self-assessed their invasive fungal infection management capability. Of the 388 participating institutions from 45 countries, 383 (99%) had access to cultures, 375 (97%) to microscopy, 363 (94%) to antigen-detection assays, 329 (85%) to molecular tests (mostly PCR), and 324 (84%) to antibody tests for diagnosis and management. With the exception of microscopy, there were considerable differences in access to techniques among countries according to their gross domestic product. At least one triazole was available in 363 (94%) of the institutions, one echinocandin in 346 (89%), and liposomal amphotericin B in 301 (78%), with country gross domestic product-based differences. Differences were also observed in the access to therapeutic drug monitoring. Although Europe is well prepared to manage invasive fungal infections, some institutions do not have access to certain diagnostic tools and antifungal drugs, despite most being considered essential by WHO. These limitations need to be overcome to ensure that all patients receive the best diagnostic and therapeutic management. ispartof: Lancet Microbe vol:4 issue:1 pages:e47-e56 ispartof: location:England status: published
Published: 2022
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15. The interaction of CD4+ helper T cells with dendritic cells shapes the tumor microenvironment and immune checkpoint blockade response

Author: Merav Cohen, Amir Giladi, Oren Barboy, Pauline Hamon, Baoguo Li, Mor Zada, Anna Gurevich-Shapiro, Cristian Gabriel Beccaria, Eyal David, Barbara B. Maier, Mark Buckup, Iris Kamer, Aleksandra Deczkowska, Jessica Le Berichel, Jair Bar, Matteo Iannacone, Amos Tanay, Miriam Merad, Ido Amit, Weizmann Institute of Science [Rehovot, Israël], Sackler School of Medicine, Tel Aviv University (TAU), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Hubrecht Institute [Utrecht, Netherlands], University Medical Center [Utrecht]-Royal Netherlands Academy of Arts and Sciences (KNAW), IRCCS San Raffaele Scientific Institute [Milan, Italie], Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Chaim Sheba Medical Center, Interactions cerveau-immunité - Brain-immune communication, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), We thank T. Wiesel for artwork and the Dean’s Flow Cytometry CORE and Biorepository and Pathology CoRE Laboratory of the Icahn School of Medicine at Mount Sinai. The research of I.A. and A.T. is supported by the Seed Networks for the Human Cell Atlas of the Chan Zuckerberg Initiative and by Merck KGaA, Darmstadt. I.A. is an Eden and Steven Romick Professorial Chair, supported by the HHMI International Scholar Award, the European Research Council Consolidator grant (no. 724471-HemTree2.0), an MRA Established Investigator award (no. 509044), DFG (no. SFB/TRR167), the Ernest and Bonnie Beutler Research Program for Excellence in Genomic Medicine, the Helen and Martin Kimmel awards for innovative investigation and the SCA award of the Wolfson Foundation and Family Charitable Trust. The Thompson Family Foundation Alzheimer’s Research Fund and the Adelis Foundation also provided support. The laboratory of A.T. is supported by the European Research Council (no. 724824), the I-CORE for chromatin and RNA regulation, a grant from the Israel Science Foundation and a grant from the Kahn Foundation. A.T. is a Kimmel investigator. The laboratory of M.M. is supported by R01 CA257195, R01 CA254104 and Samuel Waxman Cancer Research Foundation. A.G. is funded by the Rothschild Postdoctoral Fellowship of the Yad Hanadiv Foundation., European Project: 724471,ERC-2016-COG,HemTree2.0(2017), and European Project: 724824,scAssembly
Subjects: Cancer Research, Oncology, [SDV.IMM]Life Sciences [q-bio]/Immunology
Abstract: Comment in: DePICting T cell-APC crosstalk in cancer. Zhang T, Dong C. Nat Cancer. 2022 Mar;3(3):265-267. doi: 10.1038/s43018-022-00345-6. PMID: 35352059 No abstract available.; International audience; Despite their key regulatory role and therapeutic potency, the molecular signatures of interactions between T cells and antigen-presenting myeloid cells within the tumor microenvironment remain poorly characterized. Here, we systematically characterize these interactions using RNA sequencing of physically interacting cells (PIC-seq) and find that CD4+PD-1+CXCL13+ T cells are a major interacting hub with antigen-presenting cells in the tumor microenvironment of human non-small cell lung carcinoma. We define this clonally expanded, tumor-specific and conserved T-cell subset as T-helper tumor (Tht) cells. Reconstitution of Tht cells in vitro and in an ovalbumin-specific αβ TCR CD4+ T-cell mouse model, shows that the Tht program is primed in tumor-draining lymph nodes by dendritic cells presenting tumor antigens, and that their function is important for harnessing the antitumor response of anti-PD-1 treatment. Our molecular and functional findings support the modulation of Tht-dendritic cell interaction checkpoints as a major interventional strategy in immunotherapy.
Published: 2022
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16. The Use of ExoSeal Vascular Closure Device for Direct Antegrade Superficial Femoral Artery Puncture Site Hemostasis

Author: Silverberg, Daniel [Tel-Aviv University, Vascular Surgery Department, Chaim Sheba Medical Center, Tel-Hashomer, Affiliated to the Sackler School of Medicine (Israel)]
Published: 2015
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17. Human papillomavirus types detected in skin warts and cancer differ in their transforming properties but commonly counteract UVB induced protective responses in human keratinocytes

Author: Sherman, Levana [Department of Clinical Microbiology and Immunology, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv (Israel)]
Published: 2014
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18. HPV16 E6 and E6AP differentially cooperate to stimulate or augment Wnt signaling

Author: Sherman, Levana [Department of Clinical Microbiology and Immunology, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978 (Israel)]
Published: 2014
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19. Rovalpituzumab Tesirine as a Maintenance Therapy Following First-Line Platinum-Based Chemotherapy in Patients With Extensive-Stage Small Cell Lung Cancer: Results From the Phase 3 MERU Study

Author: Johnson, Melissa L, Zvirbule, Zanete, Laktionov, Konstantin, Helland, Aslaug, Cho, Byoung Chul, Gutierrez, Vanesa, Colinet, Benoît, Lena, Herve, Wolf, Martin, Gottfried, Maya, Okamoto, Isamu, van der Leest, Cor, Rich, Patricia, Hung, Jen-Yu, Appenzeller, Christina, Sun, Zhaowen, Maag, David, Luo, Yan, Nickner, Caroline, Vajikova, Alena, Komarnitsky, Philip, Bar, Jair, Sarah Cannon Research Institute [Nashville, Tennessee], Riga East University Hospital, N.N. Blokhin Russian Cancer Research Center, Oslo University Hospital [Oslo], Yonsei University, Universidad de Málaga [Málaga] = University of Málaga [Málaga], Grand Hôpital de Charleroi [Belgium], Chemistry, Oncogenesis, Stress and Signaling (COSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Kassel [Kassel], Meir Medical Center, Kyushu University, Amphia Ziekenhuis = Amphia Hospital [Breda, The Netherlands] (AZ=AH), Brustzentrum Kantonsspital St. Gallen, Abbvie Inc. [North Chicago], Kfar Saba and Sackler School of Medicine, AbbVie, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Kyushu University [Fukuoka], and Amphia Ziekenhuis
Subjects: Small cell lung cancer, Maintenance, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, [SDV.CAN]Life Sciences [q-bio]/Cancer, DLL3, Phase 3, Rovalpituzumab tesirine, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Platinum-based chemotherapy
Abstract: International audience; Introduction - Rovalpituzumab tesirine (Rova-T) is an antibody-drug conjugate targeting DLL3, an atypical Notch ligand expressed in SCLC tumors. We evaluated the efficacy of Rova-T versus placebo as maintenance therapy in patients with extensive-stage-SCLC after platinum-based chemotherapy.Methods - MERU was a phase 3 randomized, double-blinded, placebo-controlled study. Patients without disease progression after four cycles of platinum-based, front-line chemotherapy were randomized in a 1:1 ratio to receive 0.3 mg/kg Rova-T or placebo (every 6 wk, omitted every third cycle). Primary efficacy end points were progression-free survival (PFS) evaluated by the Central Radiographic Assessment Committee and overall survival (OS) in patients with DLL3-high tumors.Results - Median age of all randomized patients (N = 748) was 64 years; 78% had TNM stage IV disease. At futility analysis of the subset with DLL3-high tumors, the hazard ratio for OS was 1.07 (95% confidence interval: 0.84-1.36) favoring the placebo arm, with median OS of 8.5 and 9.8 months in the Rova-T and placebo arms, respectively; futility criteria were met. Rova-T significantly improved PFS versus placebo by investigator assessment (4.0 versus 1.4 mo, hazard ratio = 0.48, p
Published: 2021
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20. The effect of intravenous ferric carboxymaltose on health-related quality of life in iron-deficient patients with acute heart failure: The results of the AFFIRM-AHF study

Author: Marco Metra, Marcus Andreas Ohlsson, Basil S. Lewis, Wolfram Doehner, Peter van der Meer, Irakli Khintibidze, Hans Kragten, Bridget-Anne Kirwan, Jose C. Nicolau, Vincent Fabien, Tim Friede, Nicolas Danchin, Ewa A. Jankowska, Gerasimos Filippatos, Alain Cohen-Solal, Fabio Dorigotti, Hadi Skouri, Davor Miličić, Andre Keren, Alexander Parkhomenko, Jarosław Drożdż, David Sim, Stuart J. Pocock, Michael Motro, Javed Butler, Domingo A. Pascual-Figal, Theresa McDonagh, Henry J. Dargie, Josep Comín-Colet, Maria Dorobantu, Mikhail Kosiborod, Frank Ruschitzka, Stephan von Haehling, Piotr Ponikowski, Stefan D. Anker, Felipe Martinez, Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), leboeuf, Christophe, Wrocław Medical University, Socar Research S.A. [Nyon, Switzerland] (SR), London School of Hygiene and Tropical Medicine (LSHTM), Saint Luke's Mid America Heart Institute, University of Missouri [Kansas City] (UMKC), University of Missouri System, University of Mississippi Medical Center (UMMC), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], King‘s College London, Universitatea din Bucuresti (UB), Medical University of Łódź (MUL), National and Kapodistrian University of Athens (NKUA), Université d'Athènes (UOA), Assuta Hospital in Ramat HaHayal [Tel Aviv-Yafo, Israel] (AHRH), Tbilisi State University, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Prague University of Economics and Business, Università degli Studi di Brescia = University of Brescia (UniBs), Civic Hospital of Brescia, University of Zagreb, Skane University Hospital [Malmo], Lund University [Lund], National Scientific Center 'M.D. Strazhesko Institute of Cardiology' [Kyiv, Ukraine] (NSC/MDSIC), Universidad de Murcia, University hospital of Zurich [Zurich], National Heart Centre Singapore (NHCS), American University of Beirut Faculty of Medicine and Medical Center (AUB), University Medical Center Groningen [Groningen] (UMCG), Rappaport faculty of Medicine, Technion - Israel Institute of Technology [Haifa], L’Hospitalet de Llobregat [Barcelona, Spain], Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), University Medical Center Göttingen (UMG), German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Marqueurs cardiovasculaires en situation de stress (MASCOT (UMR_S_942 / U942)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), University of Glasgow, Tel Aviv University (TAU), Kfar Saba and Sackler School of Medicine, Vifor Pharma Ltd [Glattbrugg, Switzerland], and University College of London [London] (UCL)
Subjects: medicine.medical_specialty, Randomization, Heart diseases, Iron, Health-related quality of life, Population, Heart failure, 030204 cardiovascular system & hematology, Placebo, law.invention, Malalties del cor, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, law, Clinical Research, Internal medicine, medicine, Humans, Clinical Trials, AcademicSubjects/MED00200, 030212 general & internal medicine, education, education.field_of_study, Ejection fraction, Dèficit de ferro, Anemia, Iron-Deficiency, business.industry, Iron deficiency, Acute heart failure, medicine.disease, Confidence interval, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Dietary Supplements, Intravenous ferric carboxymaltose therapy, Iron deficiency diseases, Randomized clinical trial, Cardiology and Cardiovascular Medicine, business
Abstract: Aims Patients with heart failure (HF) and iron deficiency experience poor health-related quality of life (HRQoL). We evaluated the impact of intravenous (IV) ferric carboxymaltose (FCM) vs. placebo on HRQoL for the AFFIRM-AHF population. Methods and results The baseline 12-item Kansas City Cardiomyopathy Questionnaire (KCCQ-12), which was completed for 1058 (535 and 523) patients in the FCM and placebo groups, respectively, was administered prior to randomization and at Weeks 2, 4, 6, 12, 24, 36, and 52. The baseline KCCQ-12 overall summary score (OSS) mean ± standard error was 38.7 ± 0.9 (FCM group) and 37.1 ± 0.8 (placebo group); corresponding values for the clinical summary score (CSS) were 40.9 ± 0.9 and 40.1 ± 0.9. At Week 2, changes in OSS and CSS were similar for FCM and placebo. From Week 4 to Week 24, patients assigned to FCM had significantly greater improvements in OSS and CSS scores vs. placebo [adjusted mean difference (95% confidence interval, CI) at Week 4: 2.9 (0.5–5.3, P = 0.018) for OSS and 2.8 (0.3–5.3, P = 0.029) for CSS; adjusted mean difference (95% CI) at Week 24: 3.0 (0.3–5.6, P = 0.028) for OSS and 2.9 (0.2–5.6, P = 0.035) for CSS]. At Week 52, the treatment effect had attenuated but remained in favour of FCM. Conclusion In iron-deficient patients with HF and left ventricular ejection fraction, Graphical Abstract
Published: 2021
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21. Effect of exercise training interventions on energy intake and appetite control in adults with overweight or obesity: A systematic review and meta-analysis

Author: Jean-Michel Oppert, Francesca Battista, Dror Dicker, Jorge Encantado, Eliana V Carraça, Luca Busetto, Alice Bellicha, Marleen A. van Baak, Adriyan Pramono, John E. Blundell, Nathalie Farpour-Lambert, Kristine Beaulieu, Andrea Ermolao, Euan Woodward, University of Leeds, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Università degli Studi di Padova = University of Padua (Unipd), European Association for the Study of Obesity, Universidade Lusófona de Humanidades e Tecnologias [Lisbon], University Institute of Lisbon (ISCTE), Université de Genève = University of Geneva (UNIGE), Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Sorbonne Paris Nord-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Nutrition [CHU Pitié-Salpétrière], Institut E3M [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Bellicha, Alice, Kfar Saba and Sackler School of Medicine, Geneva University Hospitals and Geneva University, Nutrition et obésités: approches systémiques (UMR-S 1269) (Nutriomics), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Paris-Est Créteil Val-de-Marne - Faculté des sciences de l'éducation, sciences sociales et STAPS (UPEC SESS STAPS), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universita degli Studi di Padova, Nutrition et obésités: approches systémiques (nutriomics) (UMR-S 1269 INSERM - Sorbonne Université), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de nutrition [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), and Gestionnaire, Hal Sorbonne Université
Subjects: FOOD-INTAKE, appetite control, energy intake, exercise, physical activity, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Appetite, Supplement Articles, Overweight, 0302 clinical medicine, Weight loss, DIETARY-INTAKE, Medicine, 030212 general & internal medicine, media_common, 2. Zero hunger, 3. Good health, [SDV] Life Sciences [q-bio], Meta-analysis, MACRONUTRIENT INTAKE, Appetite control, Supplement Article, medicine.symptom, AEROBIC EXERCISE, 3-FACTOR EATING QUESTIONNAIRE, medicine.medical_specialty, FAT-FREE MASS, BODY-COMPOSITION, media_common.quotation_subject, WEIGHT-LOSS, 030209 endocrinology & metabolism, Doubly labeled water, 03 medical and health sciences, Humans, Aerobic exercise, Obesity, RESTING METABOLIC-RATE, Exercise, Aged, business.industry, Physical activity, Public Health, Environmental and Occupational Health, medicine.disease, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, PHYSICAL-ACTIVITY, Basal metabolic rate, Physical therapy, Energy intake, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: This systematic review examined the impact of exercise training interventions on energy intake (EI) and appetite control in adults with overweight/obesity (≥18 years including older adults). Articles were searched up to October 2019. Changes in EI, fasting appetite sensations, and eating behavior traits were examined with random effects meta-analysis, and other outcomes were synthesized qualitatively. Forty-eight articles were included (median [range] BMI = 30.6 [27.0-38.4] kg/m2 ). Study quality was rated as poor, fair, and good in 39, seven, and two studies, respectively. Daily EI was assessed objectively (N = 4), by self-report (N = 22), with a combination of the two (N = 4) or calculated from doubly labeled water (N = 1). In studies rated fair/good, no significant changes in pre-post daily EI were found and a small but negligible (SMD
Published: 2021
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22. Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

Author: Jeremy Manry, Eduardo J. Garcia Reino, Taushif Khan, Romain Lévy, Mary Hasek, Jérémie Rosain, Yoann Seeleuthner, Isabelle Meyts, Lazaro Lorenzo, Laurent Abel, Zhi Li, Omar AbuZaitun, Shai Shrot, Paul Bastard, Jean-Laurent Casanova, Bertrand Boisson, Emmanuelle Jouangy, Flore Rozenberg, Nicholas Hernandez, Raz Somech, Benedetta Bigio, Shen-Ying Zhang, Mélodie Aubart, Vivien Béziat, Nico Marr, Jie Chen, Rik Gijsbers, Peng Zhang, Jacinta Bustamante, Qian Zhang, Yoon-Seung Lee, Sandra Pellegrini, Aurélie Cobat, Soraya Boucherit, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], Human genetics of infectious diseases: Complex predisposition (Equipe Inserm U1163), Sidra Medicine [Doha, Qatar], Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Chaim Sheba Medical Center, Kfar Saba and Sackler School of Medicine, Service de neurochirurgie pédiatrique [CHU Necker], Faculté de Médecine et Médecine Dentaire [UCLouvain], Université Catholique de Louvain = Catholic University of Louvain (UCL), Signalisation des Cytokines - Cytokine Signaling, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Virologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hamad Bin Khalifa University (HBKU), Precision Immunology Institute [New-York] (PrIISM), Icahn School of Medicine at Mount Sinai [New York] (MSSM), CHU Necker - Enfants Malades [AP-HP], Howard Hughes Medical Institute [New York] (HHMI), Howard Hughes Medical Institute (HHMI)-New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-Rockefeller University [New York]-Columbia University Irving Medical Center (CUIMC), This work was conducted in the two branches of the Laboratory of Human Genetics of Infectious Diseases, and was funded in part by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Clinical and Translational Science Award (CTSA) program, grant UL1TR001866, NIH grants R01AI088364, R01NS072381 and R21AI151663, the National Vaccine Program Office of the US Department of Health and Human Services grant VSRNV000006, grants from the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the 'Investments for the future' program (ANR-10-IAHU-01), the ANR grants IEIHSEER (ANR-14-CE14-0008-01), SEAeHostFactors (ANR-18-CE15-0020-02), and CNSVIRGEN (ANR-19-CE15-0009-01), the French Foundation for Medical Research (FRM) (EQU201903007798), the Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Descartes University, and the St. Giles Foundation. PB was supported by the French Foundation for Medical Research (FRM, EA20170638020) and the MD-PhD program of the Imagine Institute (with the support of the Fondation Bettencourt-Schueller). JR was supported by the Inserm PhD program ('poste d’accueil Inserm'). JM was supported by ANR grants BURULIGEN (ANR-12-BSV3-0013-01) and MYCOPARADOX (ANR-16-CE12-0023)., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-14-CE14-0008,IEIHSEER,L'encéphalite Herpétique de l'enfant résulte de déficits héréditaires d'immunité contre l'HSV-1: une exception ou une règle?(2014), ANR-18-CE15-0020,SEAe-HostFactors,Facteurs de susceptibilité de l'hôte à l'encéphalite pédiatrique en Asie du Sud Est(2018), and ANR-19-CE15-0009,CNSVIRGEN,Déficits immunitaires innés dans les infections sévères du tronc cérébral(2019)
Subjects: Male, 0301 basic medicine, Untranslated region, Adolescent, [SDV]Life Sciences [q-bio], Immunology, Herpesvirus 1, Human, Receptor, Interferon alpha-beta, Biology, medicine.disease_cause, Rubella, 03 medical and health sciences, Exon, 0302 clinical medicine, Immunity, medicine, Humans, MESH: Receptor, Interferon alpha-beta, MESH: Interferons, Innate immunity, MESH: Adolescent, Infectious disease, MESH: Humans, MESH: Encephalitis, Herpes Simplex, MESH: Child, Preschool, General Medicine, medicine.disease, Virology, MESH: Male, MESH: Herpesvirus 1, Human, HEK293 Cells, 030104 developmental biology, Herpes simplex virus, Tyrosine kinase 2, Child, Preschool, 030220 oncology & carcinogenesis, MESH: HEK293 Cells, Cytokines, Encephalitis, Herpes Simplex, Interferons, Viral disease, Encephalitis, Research Article, Genetic diseases
Abstract: International audience; Inborn errors of TLR3-dependent IFN-α/β– and IFN-λ–mediated immunity in the CNS can underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of IFN-α/β and IFN-λ are unknown. We report a child homozygous for a genomic deletion of the entire coding sequence and part of the 3′-UTR of the last exon of IFNAR1, who died of HSE at the age of 2 years. An older cousin died following vaccination against measles, mumps, and rubella at 12 months of age, and another 17-year-old cousin homozygous for the same variant has had other, less severe, viral illnesses. The encoded IFNAR1 protein is expressed on the cell surface but is truncated and cannot interact with the tyrosine kinase TYK2. The patient’s fibroblasts and EBV-B cells did not respond to IFN-α2b or IFN-β, in terms of STAT1, STAT2, and STAT3 phosphorylation or the genome-wide induction of IFN-stimulated genes. The patient’s fibroblasts were susceptible to viruses, including HSV-1, even in the presence of exogenous IFN-α2b or IFN-β. HSE is therefore a consequence of inherited complete IFNAR1 deficiency. This viral disease occurred in natural conditions, unlike those previously reported in other patients with IFNAR1 or IFNAR2 deficiency. This experiment of nature indicates that IFN-α/β are essential for anti–HSV-1 immunity in the CNS
Published: 2021
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23. Mycosands: Fungal diversity and abundance in beach sand and recreational waters & mdash; Relevance to human health

Author: Betil Özhak, R.O. Rusu, Nina Gunde-Cimerman, Anna Prigitano, Aleksandra Barac, M.A. Efstratiou, A.M. Tortorano, Michelle Bull, Aurora Gitto, Esther Segal, Belinda Chapman, João Brandão, Willem J. G. Melchers, Wim G. Meijer, Dilara Ogunc, Andra-Cristina Bostanaru, Mümtaz Güran, H. Guégan, Jean-Pierre Gangneux, Sevtap Arikan-Akdagli, Laszlo Irinyi, Marlou Tehupeiory-Kooreman, Lena Klingspor, Jayne H. Stephens, Ana Sampaio, Cristina Veríssimo, Nilgun Cerikcioglu, M. Novak Babič, M. Kataržytė, C.I. Gonçalves, Aristea Velegraki, G.C. Wunderlich, Stéphane Ranque, Raquel Sabino, E. Jonikaitė, Mihai Mares, Wieland Meyer, M. Frenkel, S. Brito, Susana Silva, J. Meletiadis, Valentin Nastasa, Çağrı Ergin, Universidade de Lisboa = University of Lisbon (ULISBOA), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique [EHESP] (EHESP), Hacettepe University = Hacettepe Üniversitesi, Clinical Centre of Serbia, University of the Aegean, Pamukkale University, Kfar Saba and Sackler School of Medicine, University College Dublin [Dublin] (UCD), University of Trás-os-Montes and Alto Douro [Portugal] (UTAD), Centre for Infectious Disease and Microbiology (CIDM), The Westmead Institute for Medical Research, The University of Sydney, Klaipėda University [Lituanie] (KU), Karolinska Institutet [Stockholm], Radboud University Medical Center [Nijmegen], Università degli Studi di Milano = University of Milan (UNIMI), Vecteurs - Infections tropicales et méditerranéennes (VITROME), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées [Brétigny-sur-Orge] (IRBA), Universidade de Lisboa (ULISBOA), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano [Milano] (UNIMI), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées (IRBA)
Subjects: fungal detection, 010504 meteorology & atmospheric sciences, Beaches, yeast, 01 natural sciences, Recreational water, Fusarium, Genus, swimming, Fungal diversity, Waste Management and Disposal, Ecology, fungus, microbiological parameters, Pollution, 6. Clean water, Água e Solo, Fungi in sand, Geography, Aspergillus, priority journal, Black Sea, Italy, Water pollution, allergenicity, seashore, Environmental Engineering, Adriatic Sea, Urban growth, Article, Agentes Microbianos e Ambiente, Mediterranean Sea, Sydney [New South Wales], Humans, human, species diversity, Beach, bathing water, microbiology, Australia, Sediment, 15. Life on land, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], microbial diversity, Water quality, Bathing, Mycobiota, [SDV]Life Sciences [q-bio], Allergenic fungus, relative abundance, coastal waters, Fresh Water, health status, 010501 environmental sciences, geography, population abundance, environmental management, Human health, Fungal Diversity, Abundance (ecology), Sand, freshwater environment, Atlantic Ocean, Candida, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], biology, dermatophyte, Fungi in Sand, fungal membrane, New South Wales, Beach sand, Water Microbiology, Allergenic fungi, Colony forming units, Baltic Sea, Fungus in sand, Bathing Beaches, Mycosis, All institutes and research themes of the Radboud University Medical Center, parasitic diseases, Environmental Chemistry, 14. Life underwater, environmental protection, 0105 earth and related environmental sciences, Infecções Sistémicas e Zoonoses, nonhuman, Arthrodermataceae, Fungi, Filobasidiella, Bathing water, biology.organism_classification, sediment, 13. Climate action, colony forming unit, Mycota, fungal disease, urban area
Abstract: The goal of most studies published on sand contaminants is to gather and discuss knowledge to avoid faecal contamination of water by run-offs and tide retractions. Other life forms in the sand, however, are seldom studied but always pointed out as relevant. The Mycosands initiative was created to generate data on fungi in beach sands and waters, of both coastal and freshwater inland bathing sites. A team of medical mycologists and water quality specialists explored the sand culturable mycobiota of 91 bathing sites, and water of 67 of these, spanning fromthe Atlantic to the EasternMediterranean coasts, including the Italian lakes and the Adriatic, Baltic, and Black Seas. Sydney (Australia) was also included in the study. Thirteen countries took part in the initiative. The present study considered several fungal parameters (all fungi, several species of the genus Aspergillus and Candida and the genera themselves, plus other yeasts, allergenic fungi, dematiaceous fungi and dermatophytes). The study considered four variables that the team expected would influence the results of the analytical parameters, such as coast or inland location, urban and non-urban sites, period of the year, geographical proximity and type of sediment. The genera most frequently found were Aspergillus spp., Candida spp., Fusarium spp. and Cryptococcus spp. both in sand and in water. A site-blind median was found to be 89 Colony-Forming Units (CFU) of fungi per gram of sand in coastal and inland freshwaters, with variability between 0 and 6400 CFU/g. For freshwater sites, that number was 201.7 CFU/g (0, 6400 CFU/g (p = 0.01)) and for coastal sites was 76.7 CFU/g (0,3497.5 CFU/g). For coastalwaters and allwaters, themedianwas 0 CFU/ml (0, 1592 CFU/ml) and for freshwaters 6.7 (0, 310.0) CFU/ml (p < 0.001). The results advocate that beaches should bemonitored for fungi for safer use and better management. Highlights: Fungi are missing from water and sand health protection regulatory parameters; Both sand and water should be monitored for fungi; The median value of 89 CFU/g of all fungi may serve as a reference for sand regulation; Candida albicans, dermatophytes, endemic fungi and other fungi should be considered; Fungal analysis of water needs more data before reference values can be established. Acknowledgements: A. Abdillah, M. C. Esposto, J. Kabtani, K. Sarioglou, P. E. Verweij and F. Vieira for their collaboration in this study; the European Confederation of Medical Mycology for a seeding grant; the International Society for Human and Animal Mycology for some financial support; financial support from CESAM (UID/AMB/50017-POCI-01-0145-FEDER-007638) and CITAB (UID/AGR/04033/2019), via FCT/MCTES, from national funds (PIDDAC), cofounded by FEDER, (PT2020 Partnership Agreement and Compete 2020) and an NHMRC APP1121936 to W. Meyer; National and Kapodistrian University of Athens, Greece, Special Accounts for Research Grants (SARG K.A. 70/3/6915). info:eu-repo/semantics/publishedVersion
Published: 2021
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24. Percutaneous Transhepatic Endoscopic Holmium Laser Lithotripsy for Intrahepatic and Choledochal Biliary Stones

Author: Winkler, Harry [Tel-Aviv University, Department of Urology, Section of Endourology, Chaim Sheba Medical Center, Tel-Hashomer, Affiliated to the 'Sackler' School of Medicine (Israel)]
Published: 2011
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25. Optease Vena Cava Filter Optimal Indwelling Time and Retrievability

Author: Konen, Eli [Chaim Sheba Medical Center (Affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv), Department of Diagnostic Imaging (Israel)]
Published: 2011
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26. Histology of Tissue Adherent to OptEase Inferior Vena Cava Filters Regarding Indwelling Time

Author: Konen, Eli [Tel-Aviv University, Sackler School of Medicine (Israel)]
Published: 2009
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27. Correction to: Vena cava filters in patients presenting with major bleeding during anticoagulation for venous thromboembolism

Author: Remedios Otero-Candelera, Carmine Siniscalchi, Matteo Giorgi-Pierfranceschi, Lucia Mazzolai, Egidio Imbalzano, Luis Jara-Palomares, Barbara Vitola, Christophe Vandenbriele, Laurent BERTOLETTI, Andris Skride, PEDRO RUIZ-ARTACHO, Isabelle Quere, Carme Font, María Jesús Jaras Hernández, Universitat Autònoma de Barcelona (UAB), IMIM-Hospital del Mar, Generalitat de Catalunya, Universidad Católica San Antonio de Murcia (UCAM), Hospital General Universitario Santa Lucía (Cartagena), Columbia University Medical Center (CUMC), Columbia University [New York], New York Presbyterian Hospital, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH), University of Vigo [ Pontevedra], Kfar Saba and Sackler School of Medicine, Hospital Sant Joan de Déu [Barcelona], Hospital Universitario Miguel Servet, Université de Clermont-Ferrand, and Hopital Universitario Germans Trias i Pujol
Subjects: Vena cava filters, Plaintiff, medicine.medical_specialty, Statement (logic), business.industry, General surgery, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Emergency Medicine, Internal Medicine, medicine, In patient, business, Venous thromboembolism, Major bleeding
Abstract: International audience; In the original publication, part of the conflict of statement was incorrectly published as "Dr. Bikdeli reports that he was approached by lawyers on behalf of plaintiffs in litigation related to IVC filters". The correct statement should read as "Dr. Bikdeli reports that he is a consulting expert (on behalf of the plaintiff) for litigation related to a specific type of IVC filters".
Published: 2020
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28. Amplatzer Vascular Plug: Expanding the Applications Spectrum

Author: Garniek, Alexander [Sheba Medical Center (affiliated to the 'Sackler' School of Medicine, Tel-Aviv University, Tel-Aviv, Israel), Department of Diagnostic Imaging (Israel)]
Published: 2008
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29. Retrievable Vena Cava Filters in Major Trauma Patients: Prevalence of Thrombus Within the Filter

Author: Rimon, Uri [Tel-Aviv University, Sackler School of Medicine (Israel)]
Published: 2008
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30. Overexpression of calpastatin inhibits L8 myoblast fusion

Author: Kosower, Nechama [Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel-Aviv University, Ramat-Aviv, Tel Aviv 69978 (Israel)]
Published: 2005
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31. Baculovirus p35 increases pancreatic {beta}-cell resistance to apoptosis

Author: Efrat, Shimon [Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978 (Israel)]
Published: 2005
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32. Resolved Abdominal Aortic Aneurysms Following Stent Graft Treatment: A Report of Five Cases

Author: Morag, Benyamina [Chaim Sheba Medical Center, affiliated with Tel-Aviv University Sackler School of Medicine, Tel-Aviv Tel-Hashomer 52621, Departments of Diagnostic Radiology (Israel)]
Published: 2004
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33. Correspondance on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'

Author: Ter Haar, Nienke, Eijkelboom, Charlotte, Cantarini, Luca, Papa, Riccardo, Brogan, Paul, Kone-Paut, Isabelle, Modesto, Consuelo, Hofer, Michael, Iagaru, Nicolae, Fingerhutová, Sárka, Insalaco, Antonella, Licciardi, Francesco, Uziel, Yosef, Jelusic, Marija, Nikishina, Irina, Searles Nielsen, Susan, Papadopoulou-Alataki, Efimia, Nunzia Olivieri, Alma, Cimaz, Rolando, Susic, Gordana, Stanevica, Valda, Van Gijn, Marielle E, Vitale, Antonio, Ruperto, Nicolino, Frenkel, Joost, Gattorno, Marco, University Medical Center [Utrecht], Università degli Studi di Siena = University of Siena (UNISI), Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University College of London [London] (UCL), Service de Rhumatologie [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Vall d'Hebron Institute of Oncology [Barcelone] (VHIO), Vall d'Hebron University Hospital [Barcelona], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), First Faculty of Medicine Charles University [Prague], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Università degli studi di Torino (UNITO), Kfar Saba and Sackler School of Medicine, University Hospital Centre Zagreb, Partenaires INRAE, Rigshospitalet [Copenhagen], Copenhagen University Hospital, Aristotle University of Thessaloniki, University of the Study of Campania Luigi Vanvitelli, University of Milan, Institute for Rheumatology, Belgrade, Riga Stradins University (RSU), and IRCCS Istituto Giannina Gaslini [Genoa, Italy]
Subjects: [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, [SDV.IMM]Life Sciences [q-bio]/Immunology
Abstract: International audience; Objectives To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).Methods Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases.Results This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%).ConclusionThis study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
Published: 2019
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34. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author: Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139, University College of London [London] (UCL), Instituto Giannina Gaslini, Genoa, University of Genoa (UNIGE), University of Washington [Seattle], Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), GeneDx [Gaithersburg, MD, USA], Heidelberg University Hospital [Heidelberg], Royal Devon and Exeter NHS Foundation Trust [UK], Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Universita degli studi di Genova, Great Ormond Street Hospital for Children [London] (GOSH), The University of Sydney, Hofstra University [Hempstead], Università degli studi di Torino (UNITO), Hospital Sant Joan de Déu [Barcelona], Safra Children's Hospital, Seoul National University Hospital, Central South University [Changsha], Kennedy Krieger Institute [Baltimore], University of Amsterdam [Amsterdam] (UvA), University of Melbourne, Mayo Clinic [Rochester], Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, University of Ottawa [Ottawa], University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Leiden [Leiden], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Palermo - University of Palermo, University of Trieste, Universitat Autònoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Children’s Hospital Colorado, University of Colorado Anschutz [Aurora], Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford [Oxford], University of São Paulo (USP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Pédiatrie, CHUR Poitiers, Seoul National University [Seoul] (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester [Manchester], Yale University School of Medicine, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Salvy-Córdoba, Nathalie, Università degli studi di Genova = University of Genoa (UniGe), Tel Aviv University (TAU), Università degli studi di Torino = University of Turin (UNITO), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Trieste = University of Trieste, University of California (UC)-University of California (UC), University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Yale School of Medicine [New Haven, Connecticut] (YSM), Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andrea, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G, Santiago-Sim, Teresa, Person, Richard E, Cho, Megan T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M, Jaeger, Bregje, Schneider, Amy L, Boysen, Katja, Muir, Alison M, Myers, Candace T, Gavrilova, Ralitza H, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W, Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N, De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Bori, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C, Scheffer, Ingrid E, Clayton-Smith, Jill, Macaya, Alfon, Rothman, James E, Eichler, Evan E, Kullmann, Dimitri M, Houlden, Henry, Salpietro1, Vincenzo, 3, 2, Dixon4, Christine L., Guo5, Hui, 140, 6, Bello Stephanie Efthymiou 1, Oscar D., Maroofian1, Reza, Heimer7, Gali, 8, Lydie Burglen, 9, Stephanie Valence, Torti 10, Erin, Hacke11, Moritz, Rankin12, Julia, Tariq1, Huma, Colin13, Estelle, Procaccio13, Vincent, Striano2, Pasquale, Mankad15, Kshitij, 4, Andreas Lieb, Chen16, Sharon, Pisani16, Laura, Bettencourt 17, Conceicao, 1, Roope Männikkö, Manole1, Andreea, Brusco 18, Alfredo, Grosso18, Enrico, Battista Ferrero19, Giovanni, Armstrong-Moron20, Judith, Gueden21, Sophie, Bar-Yosef7, Omer, Tzadok7, Michal, Monaghan10, Kristin G., Santiago-Sim10, Teresa, Person10, Richard E., Cho10, Megan T., Willaert10, Rebecca, Yoo22, Yongjin, Chae23, Jong-Hee, Quan6, Yingting, Wu6, Huidan, Wang5, Tianyun, Bernier24, Raphael A., Xia6, Kun, Blesson25, Alyssa, Jain25, Mahim, Motazacker26, Mohammad M., Jaeger27, Bregje, Schneider 28, Amy L., Boysen28, Katja, Muir 29, Alison M., Myers30, Candace T., Gavrilova31, Ralitza H., Gunderson31, Lauren, Schultz-Rogers 31, Laura, Klee31, Eric W., Dyment32, David, Osmond32, Matthew, 34, 33, Parellada35, Mara, Llorente36, Cloe, Gonzalez-Peñas37, Javier, Carracedo38, Angel, Van Haeringen40, Arie, Ruivenkamp40, Claudia, Nava41, Caroline, Heron41, Delphine, Nardello42, Rosaria, Iacomino43, Michele, Minetti2, Carlo, Skabar44, Aldo, Fabretto44, Antonella, Study GroupMiquel Raspall-Chaure45, Synap, Chez46, Michael, Tsai47, Anne, Fassi48, Emily, Shinawi48, Marwan, Constantino49, John N., De Zorzi50, Rita, Fortuna 50, Sara, Kok51, Fernando, Keren41, Bori, Bonneau13, Dominique, Choi 22, Murim, Benzeev7, Bruria, Zara43, Federico, Mefford29, Heather C., Scheffer28, Ingrid E., Clayton-Smith53, Jill, Macaya45, Alfon, Rothman4, James E., Eichler 5, Evan E., Kullmann 4 &amp, Dimitri M., 1, Henry Houlden, Hanna1, SYNAPS Study Group Michael G., Bugiardini1, Enrico, Hostettler1, Isabel, O’Callaghan1, Benjamin, Khan1, Alaa, Cortese1, Andrea, O’Connor1, Emer, Yau1, Wai Y., Bourinaris1, Thoma, Kaiyrzhanov1, Rauan, Chelban1, Viorica, Madej1, Monika, Diana2, Maria C., Vari2, Maria S., Pedemonte2, Marina, Bruno2, Claudio, Balagura3, Ganna, Scala3, Marcello, Fiorillo3, Chiara, Nobili3, Lino, Malintan4, Nancy T., Zanetti4, Maria N., Krishnakumar4, Shyam S., Lignani4, Gabriele, Jepson4, James E. C., Broda43, Paolo, Baldassari43, Simona, Rossi43, Pia, Fruscione43, Floriana, Madia43, Francesca, Traverso43, Monica, De-Marco43, Patrizia, Pérez-Dueñas45, Belen, Munell45, Francina, Kriouile57, Yamna, El-Khorassani57, Mohamed, Karashova58, Blagovesta, Avdjieva58, Daniela, Kathom58, Hadil, Tincheva58, Radka, Van-Maldergem59, Lionel, Nachbauer60, Wolfgang, Boesch60, Sylvia, Gagliano61, Antonella, Amadori62, Elisabetta, Goraya63, Jatinder S., Sultan64, Tipu, Kirmani65, Salman, Ibrahim66, Shahnaz, Jan66, Farida, Mine67, Jun, Banu68, Selina, Veggiotti69, Pierangelo, Zuccotti69, Gian V., Ferrari70, Michel D., Van Den Maagdenberg70, Arn M. J., Verrotti71, Alberto, Marseglia72, Gian L., Savasta72, Salvatore, Soler73, Miguel A., Scuderi74, Carmela, Borgione74, Eugenia, Chimenz75, Roberto, Gitto75, Eloisa, Dipasquale75, Valeria, Sallemi75, Alessia, Fusco75, Monica, Cuppari75, Caterina, Cutrupi75, Maria C., Ruggieri76, Martino, Cama77, Armando, Capra77, Valeria, Mencacci78, Niccolò E., Boles79, Richard, Gupta80, Neerja, Kabra80, Madhulika, Papacostas81, Savva, Zamba-Papanicolaou81, Eleni, Dardiotis82, Efthymio, Maqbool83, Shazia, Rana84, Nuzhat, Atawneh85, Osama, Lim86, Shen Y., Shaikh87, Farooq, Koutsis88, George, Breza88, Marianthi, Coviello89, Domenico A., Dauvilliers90, Yves A., Alkhawaja91, Issam, Alkhawaja92, Mariam, Al-Mutairi93, Fuad, Stojkovic94, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya96, Fowzan S., Kinali97, Maria, Sherifa98, Hamed, Benrhouma99, Hanene, Turki99, Ilhem B. Y., Tazir100, Meriem, Obeid101, Makram, Bakhtadze102, Sophia, Saadi103, Nebal W., Zaki104, Maha S., Triki105, Chahnez C., Benfenati106, Fabio, Gustincich106, Stefano, Kara107, Majdi, Belcastro108, Vincenzo, Specchio109, Nicola, Capovilla110, Giuseppe, Karimiani111, Ehsan G., Salih112, Ahmed M., Okubadejo113, Njideka U., Ojo113, Oluwadamilola O., Oshinaike113, Olajumoke O., Oguntunde113, Olapeju, Wahab114, Kolawole, Bello114, Abiodun H., Abubakar115, Sanni, Obiabo116, Yahaya, Nwazor117, Ernest, Ekenze118, Oluchi, Williams119, Uduak, Iyagba120, Alagoma, Taiwo121, Lolade, Komolafe122, Morenikeji, Senkevich123, Konstantin, Shashkin124, Chingiz, Zharkynbekova125, Nazira, Koneyev126, Kairgali, Manizha127, Ganieva, Isrofilov127, Maksud, Guliyeva128, Ulviyya, Salayev129, Kamran, Khachatryan130, Samson, Rossi131, Salvatore, Silvestri131, Gabriella, Haridy132, Nourelhoda, Ramenghi133, Luca A., Xiromerisiou134, Georgia, David135, Emanuele, Aguennouz136, Mhammed, Fidani137, Liana, Spanaki138 &amp, Cleanthe, and Tucci139, Arianna
Subjects: Male, [SDV.GEN] Life Sciences [q-bio]/Genetics, Ion channels in the nervous system, Cohort Studies, fluids and secretions, Loss of Function Mutation, Receptors, AMPA, AMPA receptor, lcsh:Science, Child, reproductive and urinary physiology, AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2, neurodevelopmental disorders, Developmental disorders, Neurodevelopmental disorders, Brain, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, GluA2, Child, Preschool, Female, Adult, Heterozygote, Adolescent, Science, autism spectrum disorder, Article, Young Adult, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics, Receptors AMPA/genetics, Intellectual Disability, mental disorders, Humans, Infant, Neurodevelopmental Disorders, Receptors, AMPA, GRIA2, Preschool, Ion channel in the nervous system, Developmental disorders, Synaptic development, NG sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, glutamatergic synaptic transmission, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, NG sequencing, Synaptic development, Ion channel in the nervous system, Next-generation sequencing, lcsh:Q
Abstract: AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission., Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”
Published: 2019
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35. Treating juvenile idiopathic arthritis to target : Recommendations of an international task force

Author: Joost F. Swart, Nico M Wulffraat, Jonathan D Akikusa, Christiaan Scott, Fabrizio De Benedetti, Ruben Burgos-Vargas, Pierre Quartier, Yasuhiko Itoh, Ronald M. Laxer, Nicolino Ruperto, Erkan Demirkaya, Alessandro Consolaro, Tadej Avcin, Sulaiman M. Al-Mayouf, Claudia Saad-Magalhães, Roberta A. Berard, Yosef Uziel, Sebastiaan J. Vastert, Susan Shenoi, Esi M. Morgan, Ricardo Russo, Michael W. Beresford, Josef S Smolen, Sujata Sawhney, Pekka Lahdenne, Dirk Foell, Jordi Anton, Rolando Cimaz, Angelo Ravelli, Gerd Horneff, Daniel J. Lovell, Istituto Giannina, Asklepios Klinik Sankt Augustin, University Hospital of Cologne, Hospital for Sick Children, University of Cincinnati, University of Utrecht, Murdoch Children's Research Institute, Alfaisal University, Universitat de Barcelona, University of Ljubljana, London Health Sciences Centre, Alder Hey Children's NHS Foundation Trust, Hospital General de México Eduardo Liceaga, Azienda Ospedaliero Universitaria Meyer, Ospedale Pediatrico Bambino Gesù, University of Muenster, Nippon Medical School, Helsinki University Hospital, Assistance Publique Hopitaux de Paris, Istituto Giannina Gaslini, Hospital de Pediatría Garrahan, Universidade Estadual Paulista (Unesp), Sir Ganga Ram Hospital, University of Cape Town, University of Washington, Meir Medical Center, Tel Aviv University Sackler School of Medicine, and Medical University of Vienna
Subjects: Genetics and Molecular Biology (all), Arthritis, Biochemistry, Pediatrics, Severity of Illness Index, Stiffness, 0302 clinical medicine, Treatment targets, Immunology and Allergy, 030212 general & internal medicine, Disease activity, Fatigue, Shared decision making, outcomes research, Evidence-Based Medicine, treatment, Remission Induction, juvenile idiopathic arthritis, Rheumatology, Immunology, Biochemistry, Genetics and Molecular Biology (all), Disease Management, Systematic review, Antirheumatic Agents, medicine.medical_specialty, Advisory Committees, Pain, General Biochemistry, Genetics and Molecular Biology, Indirect evidence, Patient perspective, 03 medical and health sciences, medicine, Humans, Intensive care medicine, Set (psychology), 030203 arthritis & rheumatology, business.industry, Task force, Biochemistry, Genetics and Molecular Biology(all), Timeline, Treat to target, medicine.disease, Arthritis, Juvenile, Commentary, Outcomes research, business, Genetics and Molecular Biology(all)
Abstract: Made available in DSpace on 2018-12-11T16:53:21Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-06-01 Recent therapeutic advances in juvenile idiopathic arthritis (JIA) have made remission an achievable goal for most patients. Reaching this target leads to improved outcomes. The objective was to develop recommendations for treating JIA to target. A Steering Committee formulated a set of recommendations based on evidence derived from a systematic literature review. These were subsequently discussed, amended and voted on by an international Task Force of 30 paediatric rheumatologists in a consensus-based, Delphi-like procedure. Although the literature review did not reveal trials that compared a treat-to-target approach with another or no strategy, it provided indirect evidence regarding an optimised approach to therapy that facilitated development of recommendations. The group agreed on six overarching principles and eight recommendations. The main treatment target, which should be based on a shared decision with parents/patients, was defined as remission, with the alternative target of low disease activity. The frequency and timeline of follow-up evaluations to ensure achievement and maintenance of the target depend on JIA category and level of disease activity. Additional recommendations emphasise the importance of ensuring adequate growth and development and avoiding long-term systemic glucocorticoid administration to maintain the target. All items were agreed on by more than 80% of the members of the Task Force. A research agenda was formulated. The Task Force developed recommendations for treating JIA to target, being aware that the evidence is not strong and needs to be expanded by future research. These recommendations can inform various stakeholders about strategies to reach optimal outcomes for JIA. Clinica Pediatrica e Reumatologia Università degli Studi di Genova Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Department of Pediatrics Asklepios Klinik Sankt Augustin Department of Pediatric and Adolescents Medicine University Hospital of Cologne Division od Rheumatology University of Toronto Hospital for Sick Children Division of Rheumatology Cincinnati Children's Hospital Medical Center University of Cincinnati Department of Paediatric Immunology Wilhelmina Children's Hospital University Medical Center Utrecht University of Utrecht Rheumatology Unit Department of General Medicine Royal Children's Hospital Murdoch Children's Research Institute Department of Pediatric Rheumatology King Faisal Specialist Hospital and Research Center Alfaisal University Division of Pediatric Rheumatology Hospital Sant Joan de Déu Universitat de Barcelona Department of Allergology Rheumatology and Clinical Immunology University Medical Center Ljubljana Medical Faculty University of Ljubljana Division of Rheumatology Western University Children's Hospital London Health Sciences Centre Institute of Translational Medicine University of Liverpool Alder Hey Children's NHS Foundation Trust Rheumatology Department Hospital General de México Eduardo Liceaga Pediatric Rheumatology Azienda Ospedaliero Universitaria Meyer Division of Rheumatology Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù Pediatric Rheumatology and Immunology University of Muenster Department of Pediatrics Nippon Medical School Institute of Clinical Medicine Children's Hospital Helsinki University Hospital Paris-Descartes University IMAGINE Institute RAISE 22 National Reference Centre Necker-Enfants Malades Hospital Assistance Publique Hopitaux de Paris Clinica Pediatrica e Reumatologia Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini Servicio de Inmunología y Reumatología Hospital de Pediatría Garrahan Reumatologia Pediátrica São Paulo State University (UNESP) Department of Rheumatology ISIC Superspeciality Hospital Sir Ganga Ram Hospital Red Cross War Memorial Children's Hospital University of Cape Town Pediatric Rheumatology Seattle Children's Hospital and Research Center University of Washington Pediatric Rheumatology Unit Department of Pediatrics Meir Medical Center Tel Aviv University Sackler School of Medicine Division of Rheumatology Department of Medicine3 Medical University of Vienna Reumatologia Pediátrica São Paulo State University (UNESP)
Published: 2018

36. CCR4 is a determinant of melanoma brain metastasis

Author: Isaac P. Witz, Orit Sagi-Assif, Anat Klein, Diego M. Marzese, Tsipi Meshel, Alona Telerman, Shuichi Ohe, Sivan Izraely, Neta Erez, Jagadeesh Bayry, Shlomit Ben-Menachem, Dave S.B. Hoon, Department of Cell Research and Immunology, Tel Aviv University [Tel Aviv], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Department of Molecular Oncology [Santa Monica, CA, USA] (Providence Saint John’s Health Center), John Wayne Cancer Institute [Santa Monica, CA, USA], Department of Pathology [Tel Aviv, Israel] (Sackler School of Medicine), Our study was supported by The Dr. Miriam and Sheldon G. Adelson Medical Research Foundation (Needham, MA) (IPW and DSBH). We would like to thank Fred August and Adele Wolpers Charitable Fund (Clifton, NJ, USA) (to I.P. Witz) and the Sara and Natan Blutinger Foundation (West Orange, NJ, USA) (to I.P. Witz). National Institutes of Health, National Cancer Institute [R01CA167967 to DSBH]., Bayry, Jagadeesh, and Tel Aviv University (TAU)
Subjects: Male, 0301 basic medicine, Pathology, Gene Expression, Ligands, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, Metastasis, Mice, 0302 clinical medicine, Immunophenotyping, Cell Movement, CCL17, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, Brain Neoplasms, Melanoma, Micrometastasis, Tumor Burden, 3. Good health, Phenotype, Oncology, 030220 oncology & carcinogenesis, Disease Progression, [SDV.IMM.ALL] Life Sciences [q-bio]/Immunology/Allergology, Research Paper, medicine.medical_specialty, Receptors, CCR4, Stromal cell, Cell Survival, brain, 03 medical and health sciences, Cell Line, Tumor, medicine, melanoma, Animals, Humans, metastasis, [SDV.IMM.II] Life Sciences [q-bio]/Immunology/Innate immunity, neoplasms, business.industry, medicine.disease, Xenograft Model Antitumor Assays, Disease Models, Animal, 030104 developmental biology, Chemokine CCL17, CCR4, Stromal Cells, business, Biomarkers, CCL22, Brain metastasis
Abstract: International audience; We previously identified the chemokine receptor CCR4 as part of the molecular signature of melanoma brain metastasis. The aim of this study was to determine the functional significance of CCR4 in melanoma brain metastasis. We show that CCR4 is more highly expressed by brain metastasizing melanoma cells than by local cutaneous cells from the same melanoma. Moreover, we found that the expression of CCR4 is significantly higher in paired clinical specimens of melanoma metastases than in samples of primary tumors from the same patients. Notably, the expression of the CCR4 ligands, Ccl22 and Ccl17 is upregulated at the earliest stages of brain metastasis, and precedes the infiltration of melanoma cells to the brain. In-vitro, CCL17 induced migration and transendothelial migration of melanoma cells. Functionally, human melanoma cells over-expressing CCR4 were more tumorigenic and produced a higher load of spontaneous brain micrometastasis than control cells. Blocking CCR4 with a small molecule CCR4 antagonist in-vivo, reduced the tumorigenicity and micrometastasis formation of melanoma cells. Taken together, these findings implicate CCR4 as a driver of melanoma brain metastasis.
Published: 2017
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37. Continuing to deliver: the evidence base for pre-implantation genetic screening

Author: Tarek Ghobara, Santiago Munné, Rob Anderson, Yuval Yaron, Luca Gianaroli, Svetlana Rechitsky, Darren K. Griffin, Michael Large, Dagan Wells, Andreas G. Schmutzler, Joshua Blazek, Tony Gordon, László Nánássy, Samir Hamamah, Francesco Fiorentino, Attila Vereczkey, Milton Leong, Jamie Grifo, Nathan R. Treff, Janine Elson, Ariel Hourvitz, Simon Fishel, University of Kent [Canterbury], Tel Aviv Sourasky Medical Center [Te Aviv], New York University [New York] (NYU), NYU System (NYU), Kfar Saba and Sackler School of Medicine, Reprogenetics, McGill University = Université McGill [Montréal, Canada], University Hospitals Coventry and Warwickshire, Développement embryonnaire précoce humain et pluripotence EmbryoPluripotency (UMR 1203), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Oxford [Oxford], NIHR Biomedical Research Centre [London], and Guy's and St Thomas' NHS Foundation Trust-King‘s College London
Subjects: medicine.medical_specialty, Medical education, 030219 obstetrics & reproductive medicine, Reproductive Techniques, Assisted, business.industry, Alternative medicine, Retrospective cohort study, General Medicine, humanities, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Evidence-Based Practice, Humans, Medicine, Criticism, Female, Genetic Testing, 030212 general & internal medicine, business, Preimplantation Diagnosis, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: We respond to the comments made in the BBC commissioned article by Heneghan and colleagues and the Panorama programme by Deborah Cohen about pre-implantation genetic screening (PGS), which was among the three “add on” treatments highlighted in the programme and the 41 listed in the article.12 Currently an extensive evidence base supports the efficacy of PGS: more than 20 retrospective studies and four randomised controlled trials suggest that, if performed to a high standard, PGS can, and does, improve IVF success for some patient groups.34567 We accept, however, that all studies are open to criticism and thus support further investigations, randomised and retrospective. However, the programme, …
Published: 2017
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38. Towards a multidisciplinary approach to understand and manage obesity and related diseases

Author: Carmen Gil, Tommy Cederholm, Laurence Genton, Nanette Stroebele-Benschop, Cristina Cuerda, Rocco Barazzoni, Yves Boirie, Nicolaas E. P. Deutz, Stephan C. Bischoff, Raanan Shamir, Arved Weimann, M. Leon-Sanz, Anders Thorell, Berthold Koletzko, Denis Fouque, Nathalie M. Delzenne, Joelle Singer, Michael Chourdakis, Pierre Singer, Department of Nutritional Medicine, University of Hohenheim, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université, Deptartment of Public Health and Caring Sciences/Clinical Nutrition and Metabolism, Uppsala University, Medical Nutrition, School of Medicine, Aristotle University of Thessaloniki, Nutrition Unit, Hospital General Universitario Gregorio Marañón, Metabolism and Nutrition Research Group, Louvain Drug Research Institute, Université Catholique de Louvain = Catholic University of Louvain (UCL), Center for Translational Research in Aging and Longevity, Department Health and Kinesiology, Texas A&M University System, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Nutrition, Geneva University Hospital (HUG), Department of Endocrinology and Nutrition, Hospital Central de la Defensa Gomez Ulla, University of Munich Medical Centre, Ludwig Maximilians University of Munich, Department of Medicine and Hospital Doce de Octubre, Endocrinology and Nutrition, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Schneider Children's Medical Center, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Sackler School of Medicine, General Intensive Care and Institute for Nutrition Research, Rabin Medical Center, Beilinson Hospital, Department of Nutritional Medicine, Division of Applied Psychology, Department of Clinical Science, Danderyd Hospital and Department of Surgery, Ersta Hospital, Karolinska Institute, Department of General, Visceral and Oncological Surgery, Universität Leipzig [Leipzig], Department of Medical, Surgical and Health Sciences, Università degli studi di Trieste, ESPEN special interest group Obesity, Université Catholique de Louvain, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Universidad Complutense de Madrid [Madrid] (UCM), Bischoff, Stephan C, Boirie, Yve, Cederholm, Tommy, Chourdakis, Michael, Cuerda, Cristina, Delzenne, Nathalie M, Deutz, Nicolaas E, Fouque, Deni, Genton, Laurence, Gil, Carmen, Koletzko, Berthold, Leon Sanz, Miguel, Shamir, Raanan, Singer, Joelle, Singer, Pierre, Stroebele Benschop, Nanette, Thorell, Ander, Weimann, Arved, Barazzoni, Rocco, Ludwig-Maximilians University [Munich] (LMU), Tel Aviv University (TAU), Danderyds sjukhus = Danderyd University Hospital, Universität Leipzig, Università degli studi di Trieste = University of Trieste, Clermont Université-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Recherche Agronomique (INRA), UCL - SSS/LDRI - Louvain Drug Research Institute, Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université-Institut National de la Recherche Agronomique (INRA), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Institut National de la Recherche Agronomique (INRA)
Subjects: Pediatric Obesity, Sarcopenia, obesity, liver diseases, Overweight, Critical Care and Intensive Care Medicine, Global Health, Muscle Development, weight control, sarcopenic obesity, Body Weight Maintenance, 0302 clinical medicine, Weight loss, Non-alcoholic Fatty Liver Disease, 030212 general & internal medicine, Precision Medicine, Fatty liver disease, Metabolic syndrome, Microbiota, Multidisciplinary, Sarcopenic obesity, Weight maintenance, Child, Geriatrics, ddc:616, Nutrition and Dietetics, Evidence-Based Medicine, syndrome métabolique, contrôle ponderal, metabolic x syndrome, Middle Aged, Prognosis, Combined Modality Therapy, 3. Good health, obésité, nutrition, medicine.symptom, sedentariness, Obesity paradox, medicine.medical_specialty, 030209 endocrinology & metabolism, Models, Biological, metabolic syndrome, 03 medical and health sciences, microbiote, medicine, microbiota, Animals, Humans, Intensive care medicine, Sedentary lifestyle, Patient Care Team, business.industry, sédentarite, medicine.disease, Obesity, approche multidisciplinaire, weight maintenance, Chronic Disease, Physical therapy, Dysbiosis, fatty liver disease, business, maladie du foie, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, multidisciplinary
Abstract: Overnutrition and sedentary lifestyle result in overweight or obesity defined as abnormal or excessive fat accumulation that may impair health. According to the WHO, the worldwide prevalence of obesity nearly doubled between 1980 and 2008. In 2008, over 50% of both men and women in the WHO European Region were overweight, and approximately 23% of women and 20% of men were obese. Comprehensive diagnostic and therapeutic approaches should include nutritional treatment to favor the best metabolic and nutritional outcome, as well as to induce potential disease-specific benefits from selected nutritional regimens. Obesity is usually accompanied by an increased muscle mass. This might explain why obesity, under particular circumstances such as cancer or high age, might have protective effects, a phenomenon named the 'obesity paradox'. However, loss of muscle mass or function can also occur, which is associated with poor prognosis and termed 'sarcopenic obesity'. Therefore, treatment recommendations may need to be individualized and adapted to co-morbidities. Since obesity is a chronic systemic disease it requires a multidisciplinary approach, both at the level of prevention and therapy including weight loss and maintenance. In the present personal review and position paper, authors from different disciplines including endocrinology, gastroenterology, nephrology, pediatrics, surgery, geriatrics, intensive care medicine, psychology and psychiatry, sports medicine and rheumatology, both at the basic science and clinical level, present their view on the topic and underline the necessity to provide a multidisciplinary approach, to address this epidemic.
Published: 2016
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39. The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients

Author: Michaela Prokopova, Friedrich Thaiss, Andries J. Hoitsma, Bruno Hurault de Ligny, Anja Mühlfeld, Séverine Martin, Oliver Gross, Władysław Sułowicz, Annick Massart, Judith Racapé, Miguel Angel Gentil Govantes, A. Yussim, Frieder Keller, Umberto Maggiore, Matthew Howse, Gian Benedetto Piredda, Ricardo Lauzurica, Magali Giral, Luis Antonio Jiménez del Cerro, Marie-Christine Moal, Tomas Reischig, François Glowacki, Jean-François Subra, Bénédicte Janbon, Consuelo De Biase, María José Pérez-Sáez, Marian Klinger, Goce Spasovski, Philippe Gatault, Gaetano La Manna, David Berglund, Cem Tugmen, Giovanni M. Frascà, Uyen Huynh-Do, Christophe Legendre, Annaïck Pallier, Christopher Dudley, Mélanie Chesneau, Laura Braun, Daniel Abramowicz, Karine Hadaya, Christian Noel, Evangeline Pillebout, Carmen Díaz-Corte, Julio Pascual, Ondrej Viklicky, Florence Villemain, Luigi Biancone, Ana Ramírez Puga, Marije C. Baas, Alain Le Moine, Marc Abramowicz, Frederike J. Bemelman, Rainer Oberbauer, Jean-Paul Soulillou, Nurhan Seyahi, Jadranka Buturović Ponikvar, Johan W. de Fijter, Maarten Naesens, Vania Cuna, Klemens Budde, Serhan Tuglular, Pierrick Guerif, Angel Alonso Hernandez, Piero Stratta, Arnaud Garnier, Hulya Colak, K. Clemente, Sophie Brouard, Marc Hazzan, Søren Schwartz Sørensen, Giuseppe Orlando, Daniel Serón, Luboslav Beňa, Quirino Lai, Francesco Pisani, Aisling E. Courtney, Alexandre Dufay, Mehmet Sukru Sever, Thomas Wekerle, Hervé Le Monies De Sagazan, Hakim Mazouz, Aljoša Kandus, Maria Carmen Cantarell, André Gaasbeek, Massart, A, Pallier, A, Pascual, J, Viklicky, O, Budde, K, Spasovski, G, Klinger ,M, Sever, MS, Sørensen, SS, Hadaya, K, Oberbauer, R, Dudley, C, De Fijter, JW, Yussim, A, Hazzan, M, Wekerle, T, Berglund, D, De Biase, C, Pérez-Sáez, MJ, Mühlfeld, A, Orlando, G, Clemente, K, Lai, Q, Pisani, F, Kandus, A, Baas, M, Bemelman, F, Ponikvar, JB, Mazouz ,H, Stratta, P, Subra, JF, Villemain, F, Hoitsma, A, Braun, L, Cantarell, MC, Colak, H, Courtney, A, Frasca, GM, Howse, M, Naesens, M, Reischig, T, Serón, D, Seyahi, N, Tugmen, C, Alonso Hernandez, A, Beňa, L, Biancone, L, Cuna, V, Díaz-Corte, C, Dufay, A, Gaasbeek, A, Garnier, A, Gatault, P, Gentil Govantes, MA, Glowacki, F, Gross, O, Hurault de Ligny, B, Huynh-Do, U, Janbon, B, Jiménez Del Cerro, LA, Keller, F, La Manna, Gaetano, Lauzurica, R, Le Monies De Sagazan, H, Thaiss, F, Legendre, C, Martin, S, Moal, MC, Noël, C, Pillebout, E, Piredda, GB, Puga, AR, Sulowicz, W, Tuglular, S, Prokopova, M, Chesneau, M, Le Moine, A, Guérif, P, Soulillou, JP, Abramowicz, M, Giral, M, Racapé, J, Maggiore, U, Brouard, S, Abramowicz, D, AII - Amsterdam institute for Infection and Immunity, Nephrology, Renal Unit [Brussels, Belgium] (ULB), Université libre de Bruxelles (ULB)-CUB Hôpital Erasme [Bruxelles, Belgium], Medical Genetics Department [Brussels, Belgium], Université libre de Bruxelles (ULB), Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Nephrology [Barcelona, Spain] (Hospital del Mar), Hospital del Mar [Barcelona, Spain], Department of Nephrology [Prague, Czech Republic] (Transplant Center), Institute for Clinical and Experimental Medicine (IKEM), Department of Nephrology [Berlin, Germany], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Department of Nephrology [Skopje, Macedonia], Ss. Cyril and Methodius University in Skopje, Nephrology and Transplantation Medicine [Wrocław, Poland], University of Wrocław [Poland] (UWr), Internal Medicine, Nephrology [Istanbul, Turkey], Istanbul School of Medicine [Istanbul, Turkey], Nephrology P [Copenhagen, Denmark], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Nephrology and Transplantation [Geneva, Switzerland], Geneva University Hospitals - HUG [Switzerland], Department of Medicine III–Nephrology, Hypertension and Renal Transplantation [Linz, Austria], Krankenhaus Elisabethinen Linz [Linz, Austria], Richard Bright Renal Centre [Bristol, UK], Southmead Hospital [Bristol, UK]-North Bristol NHS Trust [Bristol, UK], Department of Nephrology [Leiden, The Netherlands], Leiden University Medical Center (LUMC), Department of Transplantation [Tel Aviv, Israël] (Rabin Medical Center), Rabin Medical Center [Tel Aviv, Israël]-Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Département de Néphrologie [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Surgery [Vienna, Austria] (Section of Transplantation Immunology), Medizinische Universität Wien = Medical University of Vienna, Section of Clinical Immunology [Uppsala, Sweden] (Department of Immunology, Genetics and Pathology), Uppsala University, UOS Trapianti Rene Pancreas [Parma, Italy] (Centro Trapianti di Parma), Azienda Ospedaliero-Universitaria di Parma, Department of Nephrology [Aachen, Germany], University Hospital Aachen, Section of Transplantation [Winston-Salem, NC, USA] (Department of Surgery), Wake Forest School of Medicine [Winston-Salem], Wake Forest Baptist Medical Center-Wake Forest Baptist Medical Center, U.O.C. Trapianti D’Organo [L’Aquila, Italy], Department of Nephrology [Ljubljana, Slovenia] (Renal Transplantation Centre Ljubljana), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Kidney Diseases [Nijmegen, The Netherlands], Radboudumc Nijmegen [The Netherlands], Renal Transplant Unit [Amsterdam, The Netherlands] (Department of Nephrology), Academic Medical Center [Amsterdam, Netherlands], Unité de Transplantation Rénale et Pancréatique [CHU Sud, Amiens] (Service de Néphrologie), CHU Amiens-Picardie, Department of Translational Medicine [Novara, Italy], Amedeo Avogadro University of Eastern Piedmont, Service de Néphrologie-Dialyse-Transplantation [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), service de Néphrologie et Transplantation Rénale [CHU Strasbourg] (Hôpital de jour de Néphrologie), Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg )-Nouvel Hôpital Civil - NHC [Strasbourg], Pediatric Nephrology [Barcelona, Spain] (Vall d’Hebron Hospital), Universitat Autònoma de Barcelona (UAB)-Vall d'Hebron University Hospital [Barcelona], Department of Nephrology [Izmir, Turkey], Tepecik Training and Research Hospital [Izmir, Turkey], Regional Nephrology Unit [Belfast, UK], Belfast City Hospital [Belfast, UK], Nefrologia, Dialisi e Trapianto di rene [Ancona, Italy], AO Torrette Umberto I [Ancona, Italy], Nephrology/Transplantation [Liverpool, UK], Royal Liverpool University Hospital [Liverpool, UK], Department of Nephrology and Renal Transplantation [Leuven, Belgium], University Hospitals Leuven [Leuven]-Catholic University Leuven, Nephrology Ward [Pilsen, Czech Republic] (Department of Internal Medicine), University Hospital Pilsen [Pilsen, Czech Republic], Istanbul University, Servicio de Nefrología, Hospital Universitario, A Coruña, Transplant Centre, University Hospital Louis Pasteur Kosice, University of Turin, St. Orsola University Hospital, University of Bologna, Hospital Universitario Central de Asturias (HUCA), Service Néphrologie [Roubaix], Hôpital Victor Provo, Leids Universitair Medisch Centrum [Leiden, The Netherlands], Néphrologie - Médecine Interne - Hypertension Pédiatrique, Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Service Néphrologie - Immunoclinique [CHRU Tours], Hôpital Bretonneau, Hospital Universitario Virgen del Rocío [Sevilla], Service de Néphrologie et Transplantation rénale [CHRU-lille], University Medicine Göttingen, Service de Néphrologie-Dialyse-Transplantation rénale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), University of Bern [Bern, Switzerland] (University Hospital Bern ), Transplantation rénale [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Hospital General Universitario de Alicante, Universitätsklinikum Ulm - University Hospital of Ulm, Hospital Universitario Germans Trias I Pujol, University Hospital Hamburg-Eppendorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hémodialyse et de Néphrologie [Libourne], Hôpital Robert Boulin, CHRU - Service de néphrologie, dialyse et transplantation rénale, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Département de Néphrologie et transplantation [Hôpital Saint Louis - APHP], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Kidney Transplant Az. Osp. G. Brotzu, Hospital Universitario Insular de Gran Canaria, University Hospital in Krakow, Marmara School of Medicine Hastanesi, Institute of Transplantation Urology and Nephrology [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Research Center of Epidemiology, Biostatistics and Clinical Research, Nephrology-Renal Transplantation Department, Université libre de Bruxelles (ULB)-Universitair Ziekenhuis Antwerp, ERA-EDTA-DESCARTES working group, the Fonds Erasme (research grant), the Fonds Carine Vyghen, the Fonds Horlait-Dapsens, the RTRS Fondation de Coopération Scientiﬁque CENTAURE and the IHUCesti project., ANR-10-IBHU-0005,CESTI (TSI-IHU),Centre Européen des Sciences de la Transplantation et de l'Immunothérapie (TSI-IHU)(2010), Le Bihan, Sylvie, Instituts Hospitalo-Universitaires B - Centre Européen des Sciences de la Transplantation et de l'Immunothérapie (TSI-IHU) - - CESTI (TSI-IHU)2010 - ANR-10-IBHU-0005 - IBHU - VALID, Ss. Cyril and Methodius University in Skopje (UKIM), Tel Aviv University (TAU)-Rabin Medical Center [Tel Aviv, Israël], Università degli studi di Torino = University of Turin (UNITO), University of Bologna/Università di Bologna, Service Néphrologie, médecine interne et hypertension pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CUB Hôpital Erasme [Bruxelles, Belgium]-Université libre de Bruxelles (ULB), and Hadaya, Karine
Subjects: 0301 basic medicine, Nephrology, Graft Rejection, Male, medicine.medical_treatment, 030230 surgery, Kidney transplant, 0302 clinical medicine, Surveys and Questionnaires, Allograft survival, Kidney transplantation, ddc:616, Graft Survival/immunology, Survival Rate/trends, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Incidence, Graft Survival, Immunosuppression, operational tolerance, Transplantation, 3. Good health, Europe, Survival Rate, frequency, minimally immunosuppressed patients, Female, Hemodialysis, Graft Rejection/epidemiology/immunology/prevention & control, Homologous, Adult, medicine.medical_specialty, Ronyons -- Trasplantació -- Aspectes immunològics, Immunosuppression/methods, kidney transplantation, Europe/epidemiology, 03 medical and health sciences, Immune Tolerance/immunology, Internal medicine, medicine, Immune Tolerance, Humans, Transplantation, Homologous, Survival rate, Immunosuppression Therapy, graft survival, business.industry, medicine.disease, Kidney Transplantation, Transplant Recipients, Surgery, 030104 developmental biology, Operational tolerance, Human medicine, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background Kidney recipients maintaining a prolonged allograft survival in the absence of immunosuppressive drugs and without evidence of rejection are supposed to be exceptional. The ERA-EDTA-DESCARTES working group together with Nantes University launched a European-wide survey to identify new patients, describe them and estimate their frequency for the first time. Methods Seventeen coordinators distributed a questionnaire in 256 transplant centres and 28 countries in order to report as many operationally tolerant patients (TOL; defined as having a serum creatinine
Published: 2015
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40. Non-specific accumulation of glycosphingolipids in GNE myopathy

Author: Marjan Huizing, Katherine Patzel, Erell Le Poëc-Celic, Yongmin Zhang, Heidi Dorward, William A. Gahl, Petcharat Leoyklang, Nikolay V. Kukushkin, Bixue Xu, Matthieu Sollogoub, Tal Yardeni, Terry D. Butters, Yves Blériot, Dominic S. Alonzi, Oxford Glycobiology Institute, University of Oxford [Oxford], National Human Genome Research Institute (NHGRI), National Institutes of Health [Bethesda] (NIH), Sackler School of Medicine, Tel Aviv University [Tel Aviv], Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA), Institut Parisien de Chimie Moléculaire (IPCM), Institut de Chimie du CNRS (INC)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Glycochimie Organique Biologique et Supramoléculaire (GOBS), Institut de Chimie du CNRS (INC)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Poitiers-Institut de Chimie du CNRS (INC), University of Oxford, Tel Aviv University (TAU), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and Université de Poitiers-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Biology, medicine.disease_cause, Glycosphingolipids, Article, chemistry.chemical_compound, Mice, Non specific, Muscular Diseases, Multienzyme Complexes, Genetics, medicine, [CHIM]Chemical Sciences, Animals, Humans, Phosphofructokinase 2, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Cells, Cultured, Mutation, Hereditary inclusion body myopathy, Muscles, Hexosamines, GNE MYOPATHY, Fibroblasts, medicine.disease, N-Acetylneuraminic Acid, Sialic acid, carbohydrates (lipids), Mice, Inbred C57BL, chemistry, Biochemistry, Case-Control Studies, Female, N-Acetylneuraminic acid, Lipid glycosylation
Abstract: UDP-GlcNAc 2-epimerase/ManNAc 6-kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromuscular disorder, GNE myopathy (also called hereditary inclusion body myopathy). The connection between the impairment of sialic acid synthesis and muscle pathology in GNE myopathy remains poorly understood.Glycosphingolipid (GSL) analysis was performed by HPLC in multiple models of GNE myopathy, including patients' fibroblasts and plasma, control fibroblasts with inhibited GNE epimerase activity through a novel imino sugar, and tissues of Gne(M712T/M712T) knock-in mice.Not only neutral GSLs, but also sialylated GSLs, were significantly increased compared to controls in all tested models of GNE myopathy. Treatment of GNE myopathy fibroblasts with N-acetylmannosamine (ManNAc), a sialic acid precursor downstream of GNE epimerase activity, ameliorated the increased total GSL concentrations.GNE myopathy models have increased total GSL concentrations. ManNAc supplementation results in decrease of GSL levels, linking abnormal increase of total GSLs in GNE myopathy to defects in the sialic acid biosynthetic pathway. These data advocate for further exploring GSL concentrations as an informative biomarker, not only for GNE myopathy, but also for other disorders of sialic acid metabolism.
Published: 2013
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41. Enteral nutrient supply for preterm infants : commentary from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition Committee on Nutrition

Author: Ekhard E. Ziegler, Olivier Goulet, G Putet, Giuseppe Buonocore, Patti J. Thureen, Orsolya Genzel-Boroviczény, Arieh Riskin, J.B. van Goudoever, Bernard L. Salle, Alexandre Lapillonne, Jacques Rigo, Luis A. Moreno, Raanan Shamir, Magnus Domellöf, Dominique Turck, Brenda B. Poindexter, John W. L. Puntis, Sanja Kolaček, Tamás Decsi, M. De Curtis, Pieter J. J. Sauer, Dominique Darmaun, Nicholas D. Embleton, Satish C. Kalhan, Christoph Fusch, Virgilio P. Carnielli, Josef Neu, Berthold Koletzko, Carlo Agostoni, Hania Szajewska, Walter A. Mihatsch, Università degli Studi di Milano [Milano] (UNIMI), Università degli Studi di Siena = University of Siena (UNISI), Università Politecnica delle Marche, Partenaires INRAE, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Physiologie des Adaptations Nutritionnelles (PhAN), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), Centre hospitalier universitaire de Nantes (CHU Nantes), University of Pecs, Umeå University, University of Newcastle upon Tyne, Universität Greifswald - University of Greifswald, Ludwig Maximilians University of Munich, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Case Western Reserve University [Cleveland], University of Zagreb, Hôpital Saint-Vincent de Paul, Deaconry Hospital, University of Zaragoza - Universidad de Zaragoza [Zaragoza], University of Florida [Gainesville] (UF), Indiana University, Indiana University System, Leeds General Infirmary, Hospices Civils de Lyon (HCL), Université de Liège, Bnai Zion Medical Center [Israël], Hôpital Edouard Herriot [CHU - HCL], University Medical Center Groningen, Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Medical University, Warsaw, University of Colorado, University of Colorado [Boulder], Centre Hospitalier Universitaire de Lille (CHU de Lille), Erasmus University Rotterdam, Iowa State University (ISU), General Paediatrics, and Neonatology
Subjects: CALCIUM-BINDING PROTEIN, medicine.medical_specialty, Pediatrics, EMBRYONIC AND FOETAL DEVELOPMENT, MEDLINE, Enteral administration, CHILD DEVELOPMENT, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, 030225 pediatrics, medicine, PREMATURE INFANT FEEDING, LOW-BIRTH-WEIGHT, CALCITRIOL RECEPTORS, 030212 general & internal medicine, eEnteral nutrient supply, preterm infants, PREMATURE-INFANTS, HUMAN-MILK, 2. Zero hunger, MINERAL HOMEOSTASIS, FECAL BIFIDOBACTERIA, business.industry, Gastroenterology, IRON SUPPLEMENTATION, Guideline, NUTRITIONAL REQUIREMENTS, Child development, RANDOMIZED-TRIAL, 3. Good health, Low birth weight, Parenteral nutrition, Infant formula, Family medicine, VITAMIN-D METABOLISM, Pediatrics, Perinatology and Child Health, medicine.symptom, business, Embryonic and foetal development, Nutritional requirements, Premature infant feeding, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; The number of surviving children born prematurely has increased substantially during the last 2 decades. The major goal of enteral nutrient supply to these infants is to achieve growth similar to foetal growth coupled with satisfactory functional development. The accumulation of knowledge since the previous guideline oil nutrition of preterm infants from the Committee oil Nutrition of the European Society of Paediatric Gastroenterology aid Nutrition in 1987 has made a new guideline necessary. Thus, all ad hoc expert panel was convened by the Committee oil Nutrition of the European Society of Paediatric Gastroenterology, Hepatology, and Nutrition in 2007 to make appropriate recommendations. The present guideline, of which the major recommendations are summarised here (for the full report, see http://links.lww.com/A1480). is consistent with, but not identical to, recent guidelines from the Life Sciences Research Office of the American Society for Nutritional Sciences published in 2002 and recommendations from the handbook Nutrition of the Preterm Infant. Scientific Basis (aid Practical Guidelines, 2nd ed, edited by Tsang et al, and published in 2005. The preferred food for premature infants is fortified human milk from the infant's own mother, or, alternatively, formula designed for premature infants. This guideline aims to provide proposed advisable ranges for nutrient intakes for stable-growing preterm infants up to a weight of approximately 1900 g because most data are available for these infants. These recommendations are based on a considered review of available scientific reports oil the Subject, and on expert consensus for which the available scientific data are considered inadequate.
Published: 2010
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42. The Late Natufian at Raqefet Cave: The 2006 Excavation Season

Author: Dani Nadel, György Lengyel, Fanny Bocquentin, Alexander Tsatskin, Danny Rosenberg, Reuven Yeshurun, Guy Bar-Oz, Daniella Bar-Yosef Mayer, Ron Beeri, Laurence Conyers, Sagi Filin, Israel Hershkovitz, Aldona Kurzawska, Lior Weissbrod, Zinman Institute of Archaeology [Haifa], University of Haifa [Haifa], University of Miskolc, Ethnologie préhistorique, Archéologies et Sciences de l'Antiquité (ArScAn), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris Nanterre (UPN)-Ministère de la Culture et de la Communication (MCC)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris Nanterre (UPN)-Ministère de la Culture et de la Communication (MCC)-Centre National de la Recherche Scientifique (CNRS), University of Denver, Technion - Israel Institute of Technology [Haifa], Sackler School of Medicine, Tel Aviv University [Tel Aviv], Polish Academy of Sciences (PAN), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris 8 Vincennes-Saint-Denis (UP8)-Université Paris Nanterre (UPN)-Ministère de la Culture et de la Communication (MCC)-Institut national de recherches archéologiques préventives (Inrap)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris 8 Vincennes-Saint-Denis (UP8)-Université Paris Nanterre (UPN)-Ministère de la Culture et de la Communication (MCC)-Institut national de recherches archéologiques préventives (Inrap)-Centre National de la Recherche Scientifique (CNRS), Tel Aviv University (TAU), and HAL Nanterre, Administrateur
Subjects: [SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistory, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory
Abstract: International audience; A long season of excavation took place at Raqefet cave during the summer of 2006. In the first chamber we exposed an area rich with Natufian human burials (Locus 1), a large bedrock basin with a burial and two boulder mortars (Locus 2), an in situ Natufian layer (Locus 3), and two areas with rich cemented sediments (tufa) covering the cave floor (Loci 4, 5). The latter indicate that at the time of occupation the Natufian layers covered the entire floor of the first chamber. During the ensuing millennia, these were washed away and/or removed by later visitors to the cave. We found in the cave and the terrace almost 80 human-made bedrock holes (most of which are commonly but somewhat erroneously termed mortars and cupmarks). Several contained in situ Natufian remains, and at the top of one a human skeleton was unearthed. The variety of the HBHs, in terms of shape and dimensions indicates that they were used in many ways, some of which could not have been for food or mineral processing. The paper provides results of on-going studies regarding the burials, the HBHs,the flint assemblage, the faunal remains, the ground stone industry, the bone tools and the beads. It also presents aspects of geoarchaeology and ground penetrating radar analyses. Some of the detailed plans and sections were prepared by the use of photogrammetry.
Published: 2008

43. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Author: Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, Giunti, Paola, Salpietro, Vincenzo, Oconnor, Emer, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐Yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al‐Khawaja, Issam, Al‐Mutairi, Fuad, Alkuraya, Fowzan S, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Oshinaike, Olajumoke O., Wahab, Kolawole, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna, University College London Hospitals (UCLH), Université d'Ottawa [Ontario] (uOttawa), King‘s College London, University College of London [London] (UCL), University of Cyprus [Nicosia], UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, National Yang Ming University (NYMU), Department of Information and Communications Engineering [Murcia], Universidad de Murcia, Guy's Hospital [London], Cyprus Institute of Neurology and Genetics, University of Ottawa [Ottawa], The Ottawa Hospital, University of British Columbia (UBC), Ottawa Hospital Research Institute [Ottawa] (OHRI), Institute of Neurology, Queen Square, London, Sahlgrenska University Hospital, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Department of Medical and Surgical Pediatrics, University Hospital, Fondazione, Departments of Human Genetics & Neurology, Leiden University Medical Center (LUMC), University of Laquila, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Yale University School of Medicine, Department of Microbiology, Università degli studi di Catania [Catania], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gene Dx, Partenaires INRAE, Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Universita degli studi di Genova, Fondazione 'Policlinico Universitario A. Gemelli' [Rome], UCL Institute of neurology, UCL Institute of Neurology, Chelban V., Wilson M.P., Warman Chardon J., Vandrovcova J., Zanetti M.N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M.R., Abis G., Liu Y.-T., Tribollet E., Haridy N.A., Botia J.A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K.D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J.E.C., Bello O., Bremner F., Cordivari C., Reilly M.M., Foiani M., Heslegrave A., Zetterberg H., Heales S.J.R., Wood N.W., Rothman J.E., Boycott K.M., Mills P.B., Clayton P.T., Houlden H., Kriouile Y., Khorassani M.E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., van den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A.M., Yau W.Y., Hostettler I., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y.A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F.S., Sherifa H., Rizig M., Okubadejo N.U., Ojo O.O., Oshinaike O.O., Wahab K., Bello A.H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., and Tucci A.
Subjects: 0301 basic medicine, Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, LOCAL TRANSLATION, Medizin, medicine.disease_cause, DISEASE, chemistry.chemical_compound, 0302 clinical medicine, polineuropathy, Cinètica enzimàtica, Gene Regulatory Networks, Pyridoxal phosphate, Child, Pyridoxal Kinase, Adenosine triphosphate (ATP), Research Articles, Aged, 80 and over, Mutation, Gene Regulatory Network, PLASMA, Autosomal recessive axonal polyneuropathy, Disease gene identification, Pyridoxal kinase, 3. Good health, Settore MED/26 - NEUROLOGIA, Neuropaties perifèriques, Treatment Outcome, Polyneuropathie, Neurology, Child, Preschool, Pyridoxal Phosphate, RELIABILITY, Vitamin B Complex, Female, Life Sciences & Biomedicine, Polyneuropathy, Human, Research Article, Adult, Adolescent, PDXK, Clinical Neurology, CHARCOT-MARIE-TOOTH, CHARCOT-MARIE-TOOTH, CMT NEUROPATHY SCORE, LOCAL TRANSLATION, DISEASE, RELIABILITY, MECHANISMS, DISCOVERY, FRAMEWORK, KINASE, PLASMA, MECHANISMS, 03 medical and health sciences, Polyneuropathies, Atrophy, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], KINASE, medicine, Humans, CMT NEUROPATHY SCORE, PDXK mutations, Pyridoxal, Dietary Supplement, Aged, Peripheral neuropathies, Science & Technology, [SCCO.NEUR]Cognitive science/Neuroscience, Enzyme kinetics, Neurosciences, FRAMEWORK, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, DISCOVERY, Dietary Supplements, Neurosciences & Neurology, Neurology (clinical), Adenosine triphosphate, 030217 neurology & neurosurgery
Abstract: OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. RESULTS: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5'-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. INTERPRETATION: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240. ispartof: ANNALS OF NEUROLOGY vol:86 issue:2 pages:225-240 ispartof: location:United States status: published
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44. Thermoluminescence dates for the Neanderthal burial site at Kebara in Israel

Author: Anne-Marie Tillier, Bernard Vandermeersch, Henri Laville, Paul Goldberg, Anna Belfer-Cohen, Eitan Tchernov, Liliane Meignen, G. Valladas, Ofer Bar-Yosef, J. L. Joron, Yoel Rak, Hélène Valladas, Baruch Arensburg, Centre des Faibles Radioactivités, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Pierre Süe (LPS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Kfar Saba and Sackler School of Medicine, The Hebrew University of Jerusalem (HUJ), Institut du Quaternaire, Université de Bordeaux 1, LA 133 CNRS, 33405 Talence Cedex, Université Sciences et Technologies - Bordeaux 1 (UB), Centre de Recherches Archéologiques du CNRS, Sophia Antipolis, 06560 - Valbonne cedex (France), Centre de recherche archéologique (CRA), and Laboratoire d'Anthropologie
Subjects: [SDU.OCEAN]Sciences of the Universe [physics]/Ocean, Atmosphere, geography, education.field_of_study, Multidisciplinary, geography.geographical_feature_category, Neanderthal, biology, Hominidae, Population, Mousterian, biology.organism_classification, Archaeology, Paleontology, Cave, Absolute dating, Homo sapiens, biology.animal, Period (geology), [SDU.ENVI]Sciences of the Universe [physics]/Continental interfaces, environment, education
Abstract: International audience; The origins of modern man are a subject of controversy among palaeoanthropologists concerned with human evolution1–3. Particularly heavily debated is the dating of hominid remains uncovered in southwestern Asia, because middle palaeolithic sites have provided skeletal remains classified as representing Neanderthals (Homo sapiens neanderthalensis at Tabun, Amud, Kebara and Shanidar caves) and proto-Cro-Magnons (Homo sapiens sapiens at Skhul and Qafzeh caves). This situation differs considerably from that of Western Europe, where only Neanderthal remains are known from archaeological deposits of this period, or that of the African continent, where no Neanderthal remains have so far been found. Two opposing hypotheses have been offered to explain the relations between Neanderthals and the earliest modern Homo sapiens: first that modern Homo sapiens appeared very early in the Mediterranean Levant and coexisted with a population of Neanderthals who had arrived at a later date; and second that modern humans developed from the local Neanderthal population in southwestern Asia. Recent excavations at the Kebara cave yielded Neanderthal burial in a well-documented stratigraphic and cultural Mousterian sequence4,5. We now report that ther-moluminescence dates from 38 specimens of burnt flint recovered from 4 m of Kebara deposits range from about 60,000 to 48,000 years before present (BP), indicating that Neanderthals were present in the Levant in the latter part of the middle Palaeolithic.
Published: 1987
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45. Efficacy and Safety of Daratumumab in Intermediate/High-risk Smoldering Multiple Myeloma: Final Analysis of CENTAURUS.

Author: Landgren CO, Chari A, Cohen YC, Spencer A, Voorhees PM, Sandhu I, Jenner MW, Smith D, Cavo M, van de Donk NWCJ, Beksac M, Moreau P, Goldschmidt H, Vieyra D, Sha L, Li L, Rousseau E, Dennis RM, Carson R, and Hofmeister CC
Abstract: Early intervention of smoldering multiple myeloma (SMM) may delay progression to multiple myeloma. Here, we present the final analysis of the phase 2 CENTAURUS study (NCT02316106). In total, 123 patients with intermediate/high-risk SMM were randomized to intravenous daratumumab 16 mg/kg following a Long intense (n = 41), Intermediate (n = 41), or Short intense (n = 41) dosing schedule. At a combined median follow-up of 85.2 months, in the Long intense, Intermediate, and Short intense arms complete response or better rates were 4.9%, 9.8%, and 0%; overall response rates were 58.5%, 53.7%, and 37.5%; progressive disease/death rates were 0.096, 0.102, and 0.109 (P <0.0001 for all arms); and median progression-free survival was not reached, 84.4, and 74.1 months, respectively. Median overall survival was not reached in any arm. Thirty-six patients in the Long intense or Intermediate arms continued daratumumab in an optional extension phase after completing 20 cycles of per protocol treatment. Median (range) duration of study treatment was 44.0 (1.0-91.6), 35.2 (1.9-90.6), and 1.6 (0.1-1.9) months in the Long intense, Intermediate, and Short intense arms, respectively. No new safety signals were observed. With extended follow-up (median, ~7 years), these data highlight the tolerability of daratumumab and support ongoing trials investigating daratumumab as an early intervention for SMM. ClinicalTrials.gov Identifier: NCT02316106., (Copyright © 2024 American Society of Hematology.)
Published: 2024
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46. Deep Learning for Contrast Enhanced Mammography - A Systematic Review.

Author: Sorin V, Sklair-Levy M, Glicksberg BS, Konen E, Nadkarni GN, and Klang E
Abstract: Background/aim: Contrast-enhanced mammography (CEM) is a relatively novel imaging technique that enables both anatomical and functional breast imaging, with improved diagnostic performance compared to standard 2D mammography. The aim of this study is to systematically review the literature on deep learning (DL) applications for CEM, exploring how these models can further enhance CEM diagnostic potential., Methods: This systematic review was reported according to the PRISMA guidelines. We searched for studies published up to April 2024. MEDLINE, Scopus and Google Scholar were used as search databases. Two reviewers independently implemented the search strategy. We included all types of original studies published in English that evaluated DL algorithms for automatic analysis of contrast-enhanced mammography CEM images. The quality of the studies was independently evaluated by two reviewers based on the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) criteria., Results: Sixteen relevant studies published between 2018 and 2024 were identified. All but one used convolutional neural network models (CNN) models. All studies evaluated DL algorithms for lesion classification, while six studies also assessed lesion detection or segmentation. Segmentation was performed manually in three studies, both manually and automatically in two studies and automatically in ten studies. For lesion classification on retrospective datasets, CNN models reported varied areas under the curve (AUCs) ranging from 0.53 to 0.99. Models incorporating attention mechanism achieved accuracies of 88.1% and 89.1%. Prospective studies reported AUC values of 0.89 and 0.91. Some studies demonstrated that combining DL models with radiomics featured improved classification. Integrating DL algorithms with radiologists' assessments enhanced diagnostic performance., Conclusion: While still at an early research stage, DL can improve CEM diagnostic precision. However, there is a relatively small number of studies evaluating different DL algorithms, and most studies are retrospective. Further prospective testing to assess performance of applications at actual clinical setting is warranted., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.)
Published: 2024
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47. Self and body representation among women survivors of childhood abuse and its relation to their infant's temperament.

Author: Ginzburg K, Talmon A, Brenner I, Lurie I, Tomashev R, Golan A, Igawa MS, Betser M, and Padoa A
Abstract: Objective: Studies have suggested that women's history of childhood abuse is associated with the temperament of their children, as indicated by increased negative emotionality and decreased regulatory capacity. The aim of this study was to examine a model according to which the association between maternal childhood abuse and infant temperament would be mediated by women's self-objectification and sense of disrupted body boundaries., Method: Four hundred forty women were recruited on a maternity ward within 48 hr of giving birth (Time 1). Of them, 295 (67.05%) participated in the second assessment, 3 months postpartum (Time 2). Participants' self-objectification and sense of body boundaries were assessed at Time 1. Maternal history of childhood abuse and infant temperament were assessed at Time 2., Results: Structural equation modeling yielded two significant mediation effects: (a) the association between maternal history of childhood abuse and infant's negative emotionality was mediated by self-objectification, and (b) the association between maternal history of childhood abuse and infant's orienting/regulatory capacity was mediated by a sense of disrupted body boundaries., Conclusions: This study highlights the significant influence of maternal self and body representations on infant temperament, suggesting that these factors may be relevant for clinical interventions with mothers with a history of childhood abuse to support their children's well-being. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
Published: 2024
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48. The effect of diabetes on short-term outcomes following epiretinal membrane surgery.

Author: Hecht I, Karesvuo M, Kanclerz P, Jeon S, Karesvuo P, and Tuuminen R
Subjects: Humans, Male, Female, Aged, Retrospective Studies, Follow-Up Studies, Middle Aged, Treatment Outcome, Diabetic Retinopathy diagnosis, Diabetic Retinopathy physiopathology, Blood Glucose metabolism, Blood Glucose analysis, Diabetes Mellitus epidemiology, Time Factors, Aged, 80 and over, Epiretinal Membrane surgery, Epiretinal Membrane diagnosis, Visual Acuity, Vitrectomy methods, Tomography, Optical Coherence methods
Abstract: Purpose: This study aimed to examine the association of diabetes with anatomical and functional outcomes of epiretinal membrane surgery., Methods: Consecutive patients who underwent epiretinal membrane surgery between 2017-2021 at Helsinki University Hospital, Finland. Here we examined the association of diabetes, glycemic control, and requirement for insulin medication with surgical outcomes at 1-month., Results: Included were 214 eyes of 214 patients, with a mean age of 71.2 ± 8.2 years. Among patients with diabetes (n = 45), neither significant differences were observed in anatomical outcomes (- 47.8 ± 72.7 μm vs. - 38.3 ± 103 μm for foveal thickness, p = 0.566 and - 41.6 ± 61.8 μm vs. - 41.7 ± 85.7 μm for central subfield macular thickness, p = 0.996) nor in best-corrected visual acuity (BCVA) gain (0.06 ± 0.22 vs 0.12 ± 0.30 LogMAR units, p = 0.214) compared to those without diabetes. In a multivariate analysis adjusted for age, gender, the existence of preoperative macular cysts, and topical nonsteroidal anti-inflammatory drugs (NSAIDs) use, the results remained consistent. The last preoperative HbA1c levels did not correlate with changes in foveal (Pearson's r = 0.218, p = 0.264) or central subfield macular thickness (r = 0.365, p = 0.056), or with BCVA gain (r = -0.177, p = 0.386). Insulin therapy for diabetes did not associate with the outcomes (p > 0.05 for anatomical and functional comparisons)., Conclusions: In a cohort of patients who underwent epiretinal membrane surgery, neither the presence of diabetes, nor glycemic control and the use of insulin medication associated with the outcomes., Competing Interests: Declarations. Conflict of interest: The authors have neither proprietary nor commercial interests in any medications or materials discussed in this study. Dr. Tuuminen is a scientific adviser (advisory board, honoraria) to Alcon Laboratories, Inc., Allergan, Inc., Bayer AG, F. Hoffmann-La Roche Ltd., and Novartis AG and has received clinical trial support (study medicines) from Bayer AG and Laboratoires Théa. No conflicting relationships exist for any author., (© 2024. The Author(s).)
Published: 2024
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49. The association of prenatal volatile organic compounds exposure and newborn anthropometrics: A cross-sectional study.

Author: Michael T, Solt I, Daniel S, Levy A, Hochwald O, Borenstein-Levin L, Hazan A, Berkovitch M, Brik A, Rabin AM, Betser M, Moskovich M, Livne A, Keidar R, Schwartsburd F, Weiner Z, and Kohn E
Abstract: Background: Several studies have associated prenatal exposure to volatile organic compounds (VOCs) with adverse health outcomes among newborns. However, little is known about the associations of VOCs at relatively low concentrations with newborn outcomes. Hence, this study aimed to investigate the potential associations between prenatal exposure to VOCs and VOC mixtures with newborn anthropometric measures., Methods: In this cross-sectional study, 883 mother-term infant pairs who lived in urban areas in Israel and were admitted to the delivery rooms of two major hospitals between 2016 and 2020 were recruited. Associations between VOC metabolites detected in maternal urine samples on the day of delivery with weight, length, and head circumference at birth were estimated using single-exposure linear models and weighted quantile sum (WQS) approach., Results: Toluene, ethylbenzene/styrene, and xylene metabolites were detected in most samples at levels comparable to OECD populations. In male newborns, higher levels of phenylglyoxylic acid (PGA), a metabolite of ethylbenzene/styrene, were associated with lower birth weight (β = -0.08, 95% CI: 0.14, -0.01; P = 0.03). WQS models suggested PGA as the most prominent contributor to this association., Conclusion: This study suggests that moderate exposure to ethylbenzene/styrene may be associated with reduced birth weight in male newborns. The sex-specific finding requires further research for the potential endocrine-disrupting mechanisms of these compounds. While the effect size was small, these results highlight the need to better understand the associations of frequent VOC exposures in levels similar to those common in OECD countries with fetal and child development., Competing Interests: Competing interests The authors declare that they have no competing interests., (Copyright © 2024. Published by Elsevier GmbH.)
Published: 2024
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50. Physician Preferences in Using Novel Digital Devices for the Management of Atrial Fibrillation-A DAS-CAM III Survey.

Author: Manninger M, Zweiker D, Hovakimyan T, Matusik PT, Conti S, Ollitrault P, Aro A, Mulder BA, Dichtl W, Heeger CH, Ter Bekke R, Gul EE, Weijs B, Rahm AK, Darma A, Evranos B, Sabbag A, Moroka K, Traykov V, Larsen JM, Amoroso GR, Evens S, McIntyre WF, and Linz D
Subjects: Humans, Female, Middle Aged, Male, Adult, Clinical Decision-Making, Heart Rate physiology, Surveys and Questionnaires, Health Care Surveys, Atrial Fibrillation diagnosis, Atrial Fibrillation therapy, Atrial Fibrillation physiopathology, Electrocardiography, Photoplethysmography instrumentation, Practice Patterns, Physicians'
Abstract: Aim: A recent European Heart Rhythm Association (EHRA) practical guide provides guidance on the use of novel digital devices for heart rhythm analysis using either electrocardiogram (ECG) or photoplethysmography (PPG) technology for the diagnosis of atrial fibrillation (AF). This survey assesses physicians' preferences to use digital devices in patients with possible AF and their impact on clinical decision-making., Methods and Results: Participants of the DAS-CAM III initiated and distributed an online survey assessing physician preferences in using digital devices for the management of AF in different clinical scenarios. A total of 505 physicians (median age: 38 [IQR 33-46] years) from 30 countries completed the survey. A third of respondents were electrophysiologists, the others were cardiologists, cardiology residents, or general practitioners. Electrophysiologists were more likely to have experience with both ECG-based (92% vs. 68%, p < 0.001) and PPG-based (60% vs. 34%, p < 0.001) digital devices. The initial diagnostic approach to each scenario (symptomatic low-risk, symptomatic high-risk, or asymptomatic high-risk patient) was heterogeneous. Electrophysiologists preferred intermittent single-lead ECG monitoring to traditional Holter ECGs to screen for AF. Both electrophysiologists and non-electrophysiologists would rarely use PPG-based devices to diagnose and screen for AF (8.2%-9.8%). Electrophysiologists and non-electrophysiologists use ECG-based technology to confirm PPG-documented tracings suggestive of AF., Conclusion: While PPG-based digital devices are rarely used for diagnosis and screening for AF, intermittent ECG-based digital devices are beginning to be implemented in clinical practice. More education on the potential of novel digital devices is required to achieve diagnostic pathways as suggested by the EHRA practical guide., (© 2024 The Author(s). Clinical Cardiology published by Wiley Periodicals, LLC.)
Published: 2024
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