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48 results on '"Slae, Mordechai"'

1. Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Author

Rips, Jonathan, Halstuk, Orli, Fuchs, Adina, Lang, Ziv, Sido, Tal, Gershon-Naamat, Shiri, Abu-Libdeh, Bassam, Edvardson, Simon, Salah, Somaya, Breuer, Oded, Hadhud, Mohamad, Eden, Sharon, Simon, Itamar, Slae, Mordechai, Damseh, Nadirah S., Abu-Libdeh, Abdulsalam, Eskin-Schwartz, Marina, Birk, Ohad S., Varga, Julia, Schueler-Furman, Ora, Rosenbluh, Chaggai, Elpeleg, Orly, Yanovsky-Dagan, Shira, Mor-Shaked, Hagar, and Harel, Tamar

Published
2024
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2. Drugs in focus: Botulinum toxin in the therapy of gastrointestinal disorders in children.

Author

Homan, Matjaž, Thomson, Mike, Bontems, Patrick, Saccomani, Marco Deganello, Dias, Jorge Amil, Faraci, Simona, Furlano, Raoul, Hojsak, Iva, Ledder, Oren, Slae, Mordechai, Narula, Priya, Nita, Andreia Florina, Norsa, Lorenzo, Oliva, Salvatore, Papadopoulou, Alexandra, Romano, Claudio, Rybak, Anna, Spyropoulou, Vasiliki, Tambucci, Renato, and Tzivinikos, Christos

Published
2024
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4. Hepatobiliary Involvement in Cystic Fibrosis

Author

Bertolini, Anna, Bodewes, Frank A. J. A., Slae, Mordechai, Wilschanski, Michael, Rounds, Sharon I.S., Series Editor, Dixon, Anne, Series Editor, Schnapp, Lynn M, Series Editor, Davis, Stephanie Duggins, editor, Rosenfeld, Margaret, editor, and Chmiel, James, editor

Published
2020
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7. Primary antibiotic prophylaxis in biliary atresia did not demonstrate decreased infection rate: Multi‐centre retrospective study.

Author

Brody, Yael, Slae, Mordechai, Amir, Achiya Z., Mozer‐Glassberg, Yael, Bar‐Lev, Michal, Shteyer, Eyal, and Waisbourd‐Zinman, Orith

Subjects
*BILIARY atresia, *ANTIBIOTIC prophylaxis, *LIVER transplantation, *DIAGNOSIS, *INFANTS, *CHOLANGITIS
Abstract

Aim Methods Results Conclusion This retrospective study aimed to assess the efficacy of prophylactic antibiotics in preventing ascending cholangitis following Kasai portoenterostomy (KPE). Data from 72 patients treated across four tertiary centres in Israel from 2008 to 2018 were analysed.Clinical and laboratory data were collected from biliary atresia (BA) diagnosis until liver transplantation (LT) or study completion.Median age at KPE was 58.5 days. Successful KPE was achieved in 23 (32%) patients. Ascending cholangitis occurred in 6/23 (26%) successful KPE cases and 15/45 (33%) unsuccessful cases. Primary antibiotic prophylaxis (49% of patients) was associated with earlier onset of cholangitis (median 77 vs 239 days, p = 0.016). During follow‐up, 39% underwent LT, with a 5‐year survival with native liver (SNL) of 54%.Prophylactic antibiotics did not reduce cholangitis rates post‐KPE in our cohort. Further research is essential to optimise management strategies for infants with BA. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Increased Risk of Celiac Disease in Patients with Uveitis.

Author

Milstein, Yosef, Haiimov, Elianora, Slae, Mordechai, Davidovics, Zev, Millman, Peri, Birimberg-Schwartz, Liron, Benson, Ariel, Wilschanski, Michael, and Amer, Radgonde

Subjects
CELIAC disease, ANTIBODY titer, NON-communicable diseases, ISRAELIS, ODDS ratio
Abstract

Purpose: To examine whether patients with non-infectious uveitis (NIU) are at increased risk for celiac disease (CeD). Methods: Celiac antibody testing was completed in 112 patients. The control group included patients who had undergone upper endoscopy for suspicion of CeD. Results: 2/112 (1.79%) of patients with NIU had positive anti-tTG serology and CeD was confirmed in both patients. When compared to the expected risk of CeD in the general Israeli population of 0.31%, this corresponded to an odds ratio of 5.77 (95% CI 1.4118 to 23.4737, P = 0.049). Three additional patients had positive serology for CeD but the diagnosis was not confirmed. Conclusions: An increased risk of CeD was detected in patients with NIU. We therefore recommend screening for CeD in NIU patients. Larger prospective studies are required to further validate these results. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Increased Risk of Celiac Disease in Patients with Uveitis

Author

Milstein, Yosef, primary, Haiimov, Elianora, additional, Slae, Mordechai, additional, Davidovics, Zev, additional, Millman, Peri, additional, Birimberg-Schwartz, Liron, additional, Benson, Ariel, additional, Wilschanski, Michael, additional, and Amer, Radgonde, additional

Published
2023
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28. Monitoring Enables Progress

Author

Yogev, Dotan, primary, Shosberger, Adi, additional, Nehemia, Chen, additional, Harel, Sasha, additional, Yerushalmy-Feler, Anat, additional, Ledder, Oren, additional, Orlanski-Meyer, Esther, additional, Assa, Amit, additional, Slae, Mordechai, additional, Kori, Michal, additional, Elenberg, Yigal, additional, Shaoul, Ron, additional, Zifman, Eyal, additional, Shamaly, Hussein, additional, Berkowitz, Drora, additional, Sarit, Peleg, additional, Yerushalmi, Baruch, additional, Broide, Efrat, additional, On, Avi, additional, Elkayam, Orit, additional, Bayan, Hino, additional, Gorodnichenko, Anna, additional, Pinsk, Vered, additional, Shouval, Dror S., additional, and Turner, Dan, additional

Published
2021
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31. Hijab Pin Ingestions

Author

Yogev, Dotan, primary, Mahameed, Fadi, additional, Gileles-Hillel, Alex, additional, Millman, Peri, additional, Davidovics, Zev, additional, Hashavya, Saar, additional, Rekhtman, David, additional, Wilschanski, Michael, additional, Berkun, Yackov, additional, and Slae, Mordechai, additional

Published
2020
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33. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

Author

Meino Rohlfs, Eyal Shteyer, Eman Al Idrissi, Klaus Schwarz, Ulrich Pannicke, Marita Führer, Sibylle Koletzko, Christoph Walz, Fernando E. Sepulveda, Scott B. Snapper, Christoph Klein, Amira Bouzidi, Michael Field, Dan Turner, Aleixo M. Muise, Hamza Ali Alghamdi, Yue Li, Daniel Kotlarz, Veit Hornung, Piotr Socha, Marine Gil, Anna S. Lehle, Moritz M. Gaidt, Geneviève de Saint Basile, Bernd Baumann, Raffaele Conca, Thomas Magg, Rachida Boukari, Yanshan Liu, Neil Warner, Sebastian Hollizeck, Slae Mordechai, Maja Klaudel-Dreszler, Ehsan Bahrami, Reda Belbouab, Manfred Hönig, Dr von Hauner Children's Hospital [Munich, Germany], Ludwig-Maximilians-Universität München (LMU), Boston Children's Hospital, The Hospital for sick children [Toronto] (SickKids), Faculté de médecine d'Alger, Université d'Alger 1 (Benyoucef Benkhedda), Gene Center LMU Munich, Feodor-Lynen Strasse 25, 81377 Munich, King Fahad Med City, Dept Pediat, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Clinical Medical Center, Ludwig Maximilians University-Dr. von Haunersches Kinderspital, Institut für klinische Transfusionsmedizin und Immungenetik und Institut für Transfusionsmedizin, Universitätsklinikum Ulm - University Hospital of Ulm, and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
0301 basic medicine, Male, Programmed cell death, T-Lymphocytes, Inflammation, Pathogenesis, 03 medical and health sciences, RIPK1, 0302 clinical medicine, Immune system, medicine, Humans, Intestinal Mucosa, Immunity, Mucosal, Immunodeficiency, ComputingMilieux_MISCELLANEOUS, B-Lymphocytes, Multidisciplinary, business.industry, NF-kappa B, Inflammasome, Cell Differentiation, Epithelial Cells, Biological Sciences, medicine.disease, HCT116 Cells, Inflammatory Bowel Diseases, 3. Good health, 030104 developmental biology, HEK293 Cells, 030220 oncology & carcinogenesis, Receptor-Interacting Protein Serine-Threonine Kinases, Immunology, Mutation, Primary immunodeficiency, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Severe Combined Immunodeficiency, medicine.symptom, business, medicine.drug
Abstract

Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical insights into disease mechanisms and therapeutic targeting of RIPK1 for common diseases. Here, we report on eight patients from six unrelated pedigrees with biallelic loss-of-function mutations in RIPK1 presenting with primary immunodeficiency and/or intestinal inflammation. Mutations in RIPK1 were associated with reduced NF-κB activity, defective differentiation of T and B cells, increased inflammasome activity, and impaired response to TNFR1-mediated cell death in intestinal epithelial cells. The characterization of RIPK1-deficient patients highlights the essential role of RIPK1 in controlling human immune and intestinal homeostasis, and might have critical implications for therapies targeting RIPK1.

Published
2018
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39. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)

Author

Jones, Simon A., primary, AlSayed, Moeenaldeen, additional, Broomfield, Alexander A., additional, White, Fiona, additional, Roberts, Jane, additional, Vijay, Suresh, additional, Wu, Hoi-Yee, additional, de las Heras, Javier, additional, Church, Heather, additional, Van Spronsen, Francjan J., additional, Gökçay, Gülden, additional, Arvonen, Miika, additional, Gargus, John Jay, additional, Slae, Mordechai, additional, and Ghosh, Arunabha, additional

Published
2018
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40. Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

Author

Ghosh, Arunabha, primary, Aleck, Kirk, additional, Arvonen, Miika, additional, Broomfield, Alexander, additional, Fecarotta, Simona, additional, Gargus, John J., additional, Gokcay, Gulden, additional, de las Heras, Javier, additional, Holmes, Victoria, additional, Jones, Rosie, additional, Slae, Mordechai, additional, Van Spronson, Francjan, additional, Vijay, Suresh, additional, Jones, Simon A., additional, and White, Fiona J., additional

Published
2018
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47. Sleep disorders in children with celiac disease: a prospective study.

Author

Reiter J, Abuelhija H, Slae M, Millman P, Davidovics Z, Chaimov E, Gileles-Hillel A, and Wilschanski M

Subjects
Humans, Child, Female, Child, Preschool, Male, Prospective Studies, Sleepiness, Abdominal Pain, Celiac Disease psychology, Sleep Wake Disorders
Abstract

Study Objectives: Celiac disease (CD), an immune-mediated enteropathy, has a clinical spectrum that is remarkably wide and includes neuropsychiatric manifestations. While studies of adults have shown sleep disturbances, there is limited data in children. Our objectives were to assess the association between sleep disturbances and CD in children, and the effect of a gluten-free diet., Methods: Parents of children 3-12 years old referred for endoscopy completed the Sleep Disturbance Scale for Children and modified Epworth Sleepiness Scale. Children with CD were compared with healthy controls and children with abdominal pain but no definitive findings on investigation. Parents of children with CD and abdominal pain were contacted after 6 months for follow-up., Results: We enrolled 101 patients, mean age 6.5 (2.8), 51% female, 38 with CD, 18 abdominal pain, and 45 healthy. Sleep Disturbance Scale for Children scores were 37.4 (8.7), 41.3 (11.3), and 45.4 (13.7) in healthy controls, CD, and abdominal pain, respectively ( P = .024). There was a significant difference in the disorders of arousal domain ( P = .044). There were no significant differences on the modified Epworth Sleepiness Scale. A trend toward improvement in Sleep Disturbance Scale for Children scores was seen in children with CD presenting with abdominal pain after 6 months on a gluten-free diet ( P = .07)., Conclusions: In this first prospective study of sleep disturbances in children with CD, we show high rates of disturbed sleep compared with healthy children. Sleep disturbances did not improve on a gluten-free diet and may be driven by abdominal pain., Citation: Reiter J, Abuelhija H, Slae M, et al. Sleep disorders in children with celiac disease: a prospective study. J Clin Sleep Med . 2023;19(3):591-594., (© 2023 American Academy of Sleep Medicine.)

Published
2023
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