Descriptor: "MESH : Age of Onset" - Searchworks@Jio Institute Digital Library Search Results

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15 results on '"MESH : Age of Onset"'

1. Characteristics of Uveitis Presenting for the First Time in the Elderly: Analysis of 91 Patients in a Tertiary Center

Author: Marie-Alix Grégoire, L. Varron, Jean-Daniel Grange, Laurent Kodjikian, Christiane Broussolle, Pascal Sève, Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), hospices civils de lyon, Hôtel Dieu, Biomatériaux et remodelages matriciels, Université de Lyon-Université de Lyon, Department of Internal Medicine, Hospices Civils de Lyon, Université de Lyon, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université Claude Bernard Lyon 1 (UCBL)
Subjects: Male, Pediatrics, MESH : Retrospective Studies, MESH : Aged, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH: Panuveitis, MESH: Aged, 80 and over, 0302 clinical medicine, MESH : Chronic Disease, Panuveitis, Epidemiology, Immunology and Allergy, MESH : Female, Center (algebra and category theory), MESH: Incidence, Age of Onset, Aged, 80 and over, MESH: Aged, MESH: Middle Aged, Incidence, MESH : Uveitis, Intermediate, MESH : Panuveitis, Middle Aged, Uveitis, Anterior, MESH : Incidence, humanities, MESH : Age of Onset, 3. Good health, MESH : Uveitis, Anterior, Female, Steroids, Sarcoidosis, Uveitis, Intermediate, Uveitis, MESH: Sarcoidosis, medicine.medical_specialty, MESH: Age of Onset, MESH : Male, MESH: Uveitis, Posterior, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH : Sarcoidosis, MESH : Uveitis, Posterior, 03 medical and health sciences, medicine, Humans, MESH : Middle Aged, MESH : Aged, 80 and over, Aged, Retrospective Studies, 030203 arthritis & rheumatology, Retrospective review, MESH: Humans, business.industry, MESH: Chronic Disease, MESH: Uveitis, Anterior, MESH : Humans, Uveitis, Posterior, MESH: Retrospective Studies, medicine.disease, MESH: Steroids, MESH: Male, Surgery, Ophthalmology, Chronic Disease, MESH: Uveitis, Intermediate, 030221 ophthalmology & optometry, business, MESH: Female, MESH : Steroids
Abstract: International audience; PURPOSE: To describe uveitis clinical characteristics in the elderly. METHODS: Retrospective review of 91 patients at the age of 60 or more years at the authors' uveitis tertiary center over a 7-year period. RESULTS: Uveitis in the elderly accounted for 30.1% of this population. Uveitis localization was anterior in 22.0% of patients, intermediate in 8.8%, posterior in 20.9%, while 41.7% patients presented with panuveitis. Sarcoidosis (37.4%) and idiopathic uveitis (36.3%) accounted for the majority of cases, whereas other diagnostic entities accounted for 26.3%. Panuveitis (41.7%) and sarcoidosis (37.4%) were detected at a significantly higher frequency than in the younger population. Contrarily, ankylosing spondylitis and established ophthalmological entities (pars planitis, Birdshot chorioretinopathy, Fuchs heterochromic cyclitis) were more common in patients younger than 60 years old. CONCLUSION: In the authors' experience, sarcoidosis is the leading cause of uveitis in the elderly. Idiopathic uveitis and other specific entities account for less than two-thirds of cases.
Published: 2011
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2. The advantage of women in cancer survival: An analysis of EUROCARE-4 data

Author: Micheli, A., Ciampichini, R., Oberaigner, W., Ciccolallo, L., de Vries, E., Izarzugaza, I., Zambon, P., Gatta, G., De Angelis, R., Hackl, M., Van Eycken, E., Verstreken, Martine, Holub, J., Jurickova, L., Storm, H. H., Engholm, G., Hakulinen, T., Belot, A., Hedelin, G., Velten, M., Tron, I., Le Gall, E., Launoy, G., Guizard, A. V., Faivre, J., Bouvier, A. M., Carli, P. M., Maynadie, M., Danzon, A., Buemi, A., Tretarre, B., Lacour, B., Desandes, E., Colonna, M., Molinie, F., Bara, S., Schvartz, C., Ganry, O., Grosclaude, P., Brenner, H., Kaatsch, P., Ziegler, H., Tryggvadottir, L., Comber, H., Berrino, F., Allemani, C., Baili, P., Sant, M., Sowe, S., Zigon, G., Tagliabue, G., Contiero, P., Bellu`, F., Giacomin, A., Ferretti, S., Serraino, D., Dal Maso, L., De Dottori, M., D. e. Paoli, A., Zanier, L., Vercelli, M., Orengo, M. A., Casella, C., Quaglia, A., Pannelli, F., Federico, M., Rashid, I., Cirilli, C., Fusco, M., Traina, A., De Lisi, V., Bozzani, F., Magnani, C., Pastore, G., Tumino, R., La Rosa, M. G., Spata, E., Sigona, A., Mangone, L., Falcini, F., Foca, F., Giorgetti, S., Senatore, G., Iannelli, A., Budroni, M., Patriarca, S., Zanetti, R., Rosso, S., Piffer, S., Franchini, S., Paci, E., Crocetti, E., La Rosa, F., Stracci, F., Cassetti, T., Guzzinati, S., Caldora, M., Capocaccia, R., Carrani, E., Francisci, S., Grande, E., Inghelmann, R., Lenz, H., Martina, L., Roazzi, P., Santaquilani, M., Simonetti, A., Tavilla, A., Verdecchia, A., Dalmas, M., Langmark, F., Bray, F., Johannesen, T. B., Rachtan, J., Gozdz, S., Siudowska, U., Mezyk, R., Bielska-Lasota, M., Zwierko, M., Pinheiro, P. S., Primic-Zakelj, M., Mateos, A., Torrella-Ramos, A., Zurriaga, Oscar, Marcos-Gragera, R., Vilardell, M. L., Izquierdo, A., Martinez-Garcia, C., Sanchez, M. J., Navarro, C., Chirlaque, M. D., Peris-Bonet, R., Ardanaz, E., Moreno, C., Galceran, J., Klint, A., Talback, M., Jundt, G., Usel, M., Frick, H., Ess, S. M., Bordoni, A., Luthi, J. C., Konzelmann, I., Probst, N., Lutz, J. M., Pury, P., Visser, O., Otter, R., Schaapveld, M., Coebergh, J. W. W., Janssen-Heijnen, M. L., Louis van der Heijden, Null, Greenberg, D. C., Coleman, M. P., Woods, Laura, Moran, T., Forman, D., Cooper, N., Roche, M., Verne, J., Mã¸ller, H., Meechan, D., Poole, J., Lawrence, G., Stiller, C., Gavin, A., Black, R. J., Brewster, D. H., Steward, J. A., Basque Country Cancer Registry, Vitoria-Gasteiz, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), and Public Health
Subjects: Oncology, Male, Pathology, Cancer Research, cancer survival - women, MESH : Age Distribution, MESH : Aged, MESH: Risk Assessment, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, 0302 clinical medicine, MESH: Aged, 80 and over, Residence Characteristics, Neoplasms, 80 and over, Gender differences, Sex hormones, MESH: Neoplasms, MESH : Female, MESH: Residence Characteristics, Young adult, Age of Onset, MESH : Risk Assessment, MESH : Sex Distribution, MESH: Diagnosis-Related Groups, MESH: Aged, Aged, 80 and over, 0303 health sciences, education.field_of_study, MESH: Middle Aged, Relative survival, Thyroid, MESH: Sex Distribution, Middle Aged, MESH : Adult, 3. Good health, MESH : Age of Onset, Europe, MESH : Diagnosis-Related Groups, medicine.anatomical_structure, MESH: Young Adult, 030220 oncology & carcinogenesis, MESH: Survival Analysis, MESH : Residence Characteristics, Female, EUROCARE, Adult, medicine.medical_specialty, Adolescent, MESH: Age of Onset, MESH : Male, MESH : Sex Factors, Population, MESH : Europe, MESH : Young Adult, Rectum, Socio-culturale, [SDV.CAN]Life Sciences [q-bio]/Cancer, Risk Assessment, 03 medical and health sciences, Young Adult, Age Distribution, Sex Factors, MESH: Sex Factors, SDG 3 - Good Health and Well-being, Internal medicine, MESH : Adolescent, medicine, Humans, MESH : Middle Aged, Sex Distribution, education, MESH : Aged, 80 and over, MESH: Age Distribution, Survival analysis, Diagnosis-Related Groups, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Humans, business.industry, MESH : Humans, Cancer, Cancer survival, Survival Analysis, MESH: Adult, medicine.disease, MESH : Neoplasms, MESH: Male, MESH: Europe, Age of onset, MESH : Survival Analysis, business, MESH: Female
Abstract: We analysed 1.6 million population-based EUROCARE-4 cancer cases (26 cancer sites, excluding sex-specific sites, and breast) from 23 countries to investigate the role of sex in cancer survival according to age at diagnosis, site, and European region. For 15 sites (salivary glands, head and neck, oesophagus, stomach, colon and rectum, pancreas, lung, pleura, bone, melanoma of skin, kidney, brain, thyroid, Hodgkin disease and non-Hodgkin's lymphoma) age- and region-adjusted relative survival was significantly higher in women than men. By multivariable analysis, women had significantly lower relative excess risk (RER) of death for the sites listed above plus multiple myeloma. Women significantly had higher RER of death for biliary tract, bladder and leukaemia. For all cancers combined women had a significant 5% lower RER of death. Age at diagnosis was the main determinant of the women's advantage, which, however, decreased with increasing age, becoming negligible in the elderly, suggesting that sex hormone patterns may have a role in women's superior ability to cope with cancer. (C) 2008 Elsevier Ltd. All rights reserved.
Published: 2009
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3. Incidence and survival of gastric non-Hodgkin's lymphoma: A population-based study from the Association of the French Cancer Registries (FRANCIM)

Author: Danzon, Arlette, Belot, Aurélien, Maynadié, Marc, Remontet, Laurent, Dupont, Anne Claire Gossart, Carbonnel, Franck, Renseigné, Non, FRANCIM, Réseau des registres français du cancer, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (UR 3181) (CEF2P / CARCINO), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Service de Biostatistique, Hospices Civils de Lyon (HCL), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Département des maladies chroniques et traumatismes, Institut de Veille Sanitaire (INVS), Registre des hémopathies malignes de Côte d'Or, Service de biostatistique, Agents pathogènes et inflammation - UFC (EA 4266) (API), Université de Franche-Comté (UFC), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), Hospices Civils de Lyon ( HCL ), Laboratoire de Biométrie et Biologie Evolutive ( LBBE ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique ( Inria ) -Centre National de la Recherche Scientifique ( CNRS ), Agents pathogènes et inflammation - UFC (EA 4266) ( API ), and Université de Franche-Comté ( UFC )
Subjects: Male, Multivariate analysis, MESH: Registries, MESH : Age Distribution, MESH : Aged, 0302 clinical medicine, MESH: Lymphoma, Non-Hodgkin, Risk Factors, MESH: Risk Factors, Epidemiology, MESH : Stomach Neoplasms, MESH : Neoplasm Staging, MESH : Female, Registries, MESH: Incidence, 030212 general & internal medicine, Age of Onset, MESH : Sex Distribution, MESH: Aged, MESH : Prognosis, MESH: Middle Aged, Relative survival, Incidence, Lymphoma, Non-Hodgkin, Incidence (epidemiology), MESH: Sex Distribution, Not Otherwise Specified, MESH: Stomach Neoplasms, MESH: Neoplasm Staging, Hematology, General Medicine, Middle Aged, MESH : Adult, Prognosis, MESH : Risk Factors, MESH : Incidence, MESH : Age of Onset, 3. Good health, Oncology, MESH: Young Adult, MESH: Survival Analysis, 030220 oncology & carcinogenesis, Female, [ SDV.MHEP.HEG ] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, France, Adult, medicine.medical_specialty, Adolescent, MESH : Male, MESH: Age of Onset, MESH : Young Adult, MESH: Multivariate Analysis, MESH: Prognosis, Young Adult, 03 medical and health sciences, Age Distribution, Stomach Neoplasms, MESH : Adolescent, Internal medicine, medicine, Humans, MESH : Middle Aged, MESH : Lymphoma, Non-Hodgkin, Radiology, Nuclear Medicine and imaging, Sex Distribution, MESH : France, MESH: Age Distribution, Survival analysis, Aged, Neoplasm Staging, MESH: Adolescent, MESH: Humans, business.industry, MESH : Humans, MESH : Multivariate Analysis, Cancer, MESH: Adult, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, medicine.disease, Survival Analysis, MESH: Male, MESH: France, Multivariate Analysis, Immunology, MESH : Survival Analysis, Age of onset, business, MESH: Female, MESH : Registries
Abstract: International audience; BACKGROUND: Most epidemiological studies on gastric lymphomas (GL) were carried out before changes in therapy were introduced. The aim of the study was to measure the incidence of GL and to estimate survival. MATERIAL AND METHODS: Data were provided by the Association of the French Cancer Registries database. Age-standardized incidence rates were calculated for 786 incident cases diagnosed between 1978 and 2002. Crude and relative survival were calculated for 361 cases diagnosed between 1989 and 1997. Effects specific to sex, age at diagnosis, year of diagnosis, and grade of malignancy were estimated in multivariate analysis. RESULTS: Incidence was stable during the study period. However, high-grade GL frequency increased whereas low-grade and not otherwise specified (NOS) GL frequencies were respectively stable and decreased. At 5 years, relative survival was 63% in men and 60% in women. Patients aged 75 or older had a five-year relative survival of 33%. Age at diagnosis was the only significant prognostic factor in multivariate analysis. Time trend improvement in prognosis was observed. DISCUSSION: Results in elderly patients show that therapeutic regimens should be specifically designed and assessed for them. The prognosis improvement trend is probably related to the implementation of changes in management of patients and has to be confirmed by more recent data.
Published: 2009
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4. Markers of recurrence and long-term morbidity in craniopharyngioma: a systematic analysis of 171 patients

Author: Fabrice Bonnet, A. Gautier, Ariane Godbout, Mathieu Coudert, Gilles Brassier, Catherine Grosheny, Laurent Riffaud, Philippe Touraine, Christian Sainte-Rose, Marc de Kerdanet, Carine Courtillot, Christel Jublanc, Elisabeth Thibaud, Isabelle Tejedor, Jean-Yves Poirier, Remy Van Effenterre, Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-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 ), Service d'endocrinologie diabétologie et nutrition [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-Hôpital Anne-de-Bretagne, Endocrinology Division, Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM)-Department of Medicine, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC), Modeling in Clinical Research, Université Pierre et Marie Curie - Paris 6 (UPMC)-EA 3974, Service de Pédiatrie, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de neurochirurgie [Rennes] = Neurosurgery [Rennes], CHU Pontchaillou [Rennes], Service de neurochirurgie 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), Craniopharyngioma Study Group, Université de Rennes (UR)-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 ), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-Hôpital Anne-de-Bretagne, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -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 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -CHU Pontchaillou [Rennes]-Hôpital Anne-de-Bretagne, Centre de recherche du Centre Hospitalier de l'Université de Montréal ( CRCHUM ) -Department of Medicine, Department of Endocrinology and Reproductive Medicine, CHU Pitié-Salpêtrière [APHP]-Centre de Référence des Maladies Endocriniennes rares de la croissance et des maladies gynécologiques rares, Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -EA 3974, Department of Biostatistics and Medical Informatics, CHU Pitié-Salpêtrière [APHP], Department of Endocrinology and Metabolism, Service de neurochirurgie [Rennes], Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Department of Neurosurgery, and Le Corre, Morgane
Subjects: Male, Pediatrics, MESH : Retrospective Studies, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, MESH : Child, Preschool, Biochemistry, MESH: Craniopharyngioma, Cohort Studies, Craniopharyngioma, 0302 clinical medicine, Endocrinology, MESH : Child, Quality of life, MESH: Child, MESH : Female, MESH : Craniotomy, [ SDV.IB ] Life Sciences [q-bio]/Bioengineering, Age of Onset, Child, MESH: Cohort Studies, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, MESH : Prognosis, MESH: Middle Aged, MESH : Neoplasm Recurrence, Local, MESH: Follow-Up Studies, MESH : Adult, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Prognosis, MESH : Age of Onset, 3. Good health, 030220 oncology & carcinogenesis, Child, Preschool, MESH: Survival Analysis, MESH : Social Adjustment, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, France, Social Adjustment, MESH: Neoplasm Recurrence, Local, Craniotomy, Cohort study, MESH: Intracranial Hypertension, Adult, medicine.medical_specialty, Adolescent, MESH : Male, MESH: Age of Onset, MESH: Craniotomy, MESH : Cohort Studies, Context (language use), MESH: Prognosis, 03 medical and health sciences, MESH : Intracranial Hypertension, MESH : Adolescent, Internal medicine, MESH : Craniopharyngioma, medicine, Humans, MESH : Middle Aged, MESH : France, Survival rate, Survival analysis, Retrospective Studies, [SDV.IB] Life Sciences [q-bio]/Bioengineering, MESH: Adolescent, MESH: Humans, business.industry, MESH : Humans, Biochemistry (medical), MESH: Child, Preschool, MESH: Quality of Life, MESH : Follow-Up Studies, Retrospective cohort study, MESH: Adult, MESH: Retrospective Studies, MESH : Quality of Life, medicine.disease, Survival Analysis, MESH: Social Adjustment, MESH: Male, Surgery, MESH: France, Quality of Life, MESH : Survival Analysis, Age of onset, Intracranial Hypertension, Neoplasm Recurrence, Local, business, MESH: Female, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; CONTEXT: Craniopharyngiomas are often associated with an unfavorable prognosis, but data on their long-term consequences are sparse. OBJECTIVE: The aim of the study was to identify markers of recurrence and factors associated with compromised social rehabilitation and altered quality of life in a large cohort of patients with either childhood-onset (CO) or adult-onset craniopharyngioma. METHODS: Retrospective analysis was performed for 171 patients treated for craniopharyngioma in two academic centers in France between 1972 and 2009. For each subject, data were collected concerning clinical presentation, imaging features, visual sequelae, endocrine and metabolic impact, treatment modalities (surgery, radiotherapy), recurrence-free survival rate, and social insertion, as well as answers to the WHO-QOL BREF questionnaire. RESULTS: A total of 65 CO and 106 adult-onset patients were reviewed. If CO was diagnosed before the age of 10 yr, this was associated with a higher incidence of obesity, blindness, and panhypopituitarism, and only 40.7% of subjects had adequate work or school attendance compared to 72.4% of patients with later disease onset. Initial symptoms of intracranial hypertension (SIHT), pterional surgery, and multiple surgery were associated with obesity and poorer social insertion. No determinant of quality of life was identified. In the subgroup of patients treated in the 1990s and later, the progression rate was 59.4% in patients with residual tumor on magnetic resonance imaging compared with a 19.8% recurrence rate in the group with apparently complete resection. Recurrence/progression correlates significantly with male gender, early onset (before 10 yr), and SIHT, but only SIHT at presentation remained a significant predictor with multivariate analysis. CONCLUSIONS: Craniopharyngioma continues to be associated with severe outcomes. Higher morbidity rates are found in patients with early-onset disease (before 10 yr), initial SIHT, or in whom pterional surgery was required. Markers of recurrence are difficult to identify, with SIHT being the most powerful predictor.
Published: 2012
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5. Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

Author: François Marçon, Caroline Bonnet, Sophie Guillaumont, Elisabeth Villain, Véronique Gournay, François Godart, Albin Behaghel, Yves Dulac, Jean-Benoit Thambo, Swanny Fouchard, Vincent Probst, Jean-Jacques Schott, Jean-Marc Schleich, Alain Chantepie, Francis Rouault, Christophe Leclercq, Alban-Elouen Baruteau, Alain Fraisse, Hervé Le Marec, Jean-Claude Daubert, Jean-René Lusson, Philippe Mabo, Service de cardiologie et maladies vasculaires, Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], CIC-IT Rennes, Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut du thorax, Université de Nantes ( UN ) -IFR26-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire Traitement du Signal et de l'Image ( LTSI ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), unité de recherche de l'institut du thorax UMR1087 UMR6291 ( ITX ), Université de Nantes ( UN ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service cardiologie pédiatrique [Bordeaux], CHU Bordeaux [Bordeaux], Service de Cardiologie Infantile [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Service de cardiologie pédiatrique [Nantes], Centre hospitalier universitaire de Nantes ( CHU Nantes ), Cabinet de Cardiologie pédiatrique, Service de cardiologie pédiatrique [Tours], CHU Tours, Service de cardiologie Pédiatrique [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Service de cardiologie Pédiatrique [Lille], Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Service de cardiologie pédiatrique et congénitale adulte [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de cardiologie Pédiatrique [Marseille], Hôpital de la Timone [CHU - APHM] ( TIMONE ), Service de cardiologie [Clermont-Ferrand], CHU Clermont-Ferrand, Service pédiatrie-cardiologie, CHU Toulouse [Toulouse]-Hôpital des Enfants, 'Protocole Hospitalier de Recherche Clinique' 2001 R20/03 and 2004 R20/07 from the University Medical Center of Nantes, France, the 2009 Philippe Coumel Research Grant from the French Society of Cardiology, grant no 05 CVD 01 (Preventing Sudden Death) from the Foundation Leducq Trans-Atlantic Network of Excellence, 'Agence Nationale de la Recherche' grant 05-MRAR-028., Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Nantes (UN)-IFR26-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Cardiologie Maladies Vasculaires [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, CHU Toulouse [Toulouse], Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service Cardiologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)
Subjects: Male, Pacemaker, Artificial, Heart disease, MESH : Retrospective Studies, law.invention, Electrocardiography, 0302 clinical medicine, MESH: Pregnancy, MESH : Child, Pregnancy, Prenatal Diagnosis, MESH: Child, Age of Onset, Child, MESH: Treatment Outcome, MESH: Bundle-Branch Block, Clinical outcome, Cardiac Pacing, Artificial, MESH : Infant, MESH: Infant, 3. Good health, MESH : Age of Onset, Pacemaker, MESH: Young Adult, MESH : Electrocardiography, Child, Preschool, Disease Progression, MESH: Pacemaker, Artificial, MESH: Disease Progression, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, MESH : Bundle-Branch Block, MESH: Age of Onset, MESH : Young Adult, MESH: Cardiac Pacing, Artificial, Disease-Free Survival, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, MESH : Adolescent, Humans, MESH: Prenatal Diagnosis, MESH : Prenatal Diagnosis, Retrospective Studies, MESH: Adolescent, MESH: Humans, MESH: Child, Preschool, MESH : Humans, Infant, MESH: Adult, MESH: Retrospective Studies, MESH : Disease Progression, medicine.disease, MESH : Pregnancy, MESH: Disease-Free Survival, Atrioventricular block, MESH: Female, Pediatrics, Paediatric electrocardiology, 030204 cardiovascular system & hematology, MESH : Child, Preschool, Risk Factors, law, MESH: Risk Factors, MESH : Female, [ SDV.IB ] Life Sciences [q-bio]/Bioengineering, medicine.diagnostic_test, Dilated cardiomyopathy, MESH : Adult, [ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, MESH : Risk Factors, MESH : Atrioventricular Block, Treatment Outcome, MESH : Disease-Free Survival, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, medicine.symptom, Adult, Adolescent, MESH : Male, Bundle-Branch Block, MESH : Treatment Outcome, Asymptomatic, Young Adult, MESH: Atrioventricular Block, 030225 pediatrics, medicine, business.industry, MESH : Pacemaker, Artificial, Retrospective cohort study, MESH: Male, Surgery, MESH: Electrocardiography, MESH : Cardiac Pacing, Artificial, Artificial cardiac pacemaker, Age of onset, business
Abstract: International audience; AIMS: The natural history of congenital or childhood non-immune, isolated atrioventricular (AV) block is poorly defined. METHODS AND RESULTS: We retrospectively studied 141 children with isolated, non-immune AV block diagnosed in utero, or up to 15 years of age, at 13 French medical centres, between 1980 and 2009. Patients with structural heart disease or maternal antibodies were excluded. Atrioventricular block was asymptomatic in 119 (84.4%) and complete in 100 (70.9%) patients. There was progression to complete AV block in 29/41 (70.7%) patients with incomplete AV block over 2.8 ± 3.4 years (1-155 months), but all patients with incomplete AV block may not have been included in the study. Narrow QRS complex was present in 18 of 26 patients (69.2%) with congenital, and 106 of 115 (92.2%) with childhood AV block. Pacemakers were implanted in 112 children (79.4%), during the first year of life in 18 (16.1%) and before 10 years of age in 90 (80.4%). The mean interval between diagnosis of AV block and pacemaker implants was 2.6 ± 3.9 years (0-300 months). The pacing indication was prophylactic in 70 children (62.5%). During a mean follow-up of 11.6 ± 6.7 years (1-32 years), no patient died or developed dilated cardiomyopathy (DCM). The long-term follow-up was uncomplicated in 127 children (90.1%). CONCLUSION: In this large multicentre study, the long-term outcome of congenital or childhood non-immune, isolated AV block was favourable, regardless of the patient's age at the time of diagnosis. No patient died or developed DCM, and pacemaker-related complications were few.
Published: 2012
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6. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

Author: Christophe Charasse, Miguel A. Alonso, Rodrick Montjean, Dominique Pouthier, Leila Balafrej, Pierre Ronco, Jacques Dantal, Georges Deschênes, Jean-Michel Vallat, Eric LeGuern, Guillaume Canaud, Alain Bonnardeaux, Anne Guiochon-Mantel, Marie-Josèphe Tête, Olivier Gribouval, Olivia Boyer, Laurence Richard, Christelle Arrondel, Philippe Petiot, Geneviève Benoit, Odile Dubourg, Alexandre Karras, Evelyne Huynh Cong, Isabelle Broutin, Emmanuelle Plaisier, Corinne Antignac, Géraldine Mollet, Claire Pouteil-Noble, Marie-Claire Gubler, Sophie Saunier, Benoît Funalot, Patrice Deteix, Fabien Nevo, Néphropathies héréditaires et rein en développement (UMR_S 983), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de néphrologie 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), Université Paris Descartes - Paris 5 (UPD5), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Biochimie et Génétique Moléculaire [CHU Limoges], CHU Limoges, Centre de référence national neuropathies périphériques rares [CHU Limoges], Service de Neurologie [CHU Limoges], Service de néphrologie pédiatrique, Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], SARS International Centre for Marine Molecular Biology, Neuropathies héréditaires et rein en développement, Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe Avenir Tour Lavoisier, Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Service de néphrologie et transplantation, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de Recherche Guy- Bernier, Hôpital Maisonneuve-Rosemont, Service de transplantation et soins intensifs, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], CH de Saint-Brieuc, Service de Néphrologie et Immunologie Clinique, Hôtel Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neurologie, Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Service de Néphrologie, Centre Hospitalier de Luxembourg [Luxembourg] (CHL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Laboratoire de cristallographie et RMN biologiques (LCRB - UMR 8015), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Paris Descartes - Paris 5 (UPD5), Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Service de Génétique Médicale [CHU Necker], Néphropathies héréditaires et rein en développement ( UMR_S 983 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Necker - Enfants Malades [AP-HP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes - Paris 5 ( UPD5 ), Service de néphrologie et dialyses, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Tenon [APHP], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université de Montréal-CHU Sainte Justine [Montréal], Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Hôtel Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Université Paris Diderot - Paris 7 ( UPD7 ), CHU Gabriel Montpied ( CHU ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Hospices Civils de Lyon ( HCL ) -Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier de Luxembourg, Centre de Référence pour les Epilepsies Rares, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP]-Centre de Référence pour les Epilepsies Rares, Service de Génétique [Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Laboratoire de cristallographie et RMN biologiques ( LCRB - UMR 8015 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centro de Biología Molecular Severo Ochoa ( CBMSO ), Universidad Autonoma de Madrid ( UAM ) -Consejo Superior de Investigaciones Científicas [Spain] ( CSIC ), RONCO, Pierre, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), CHU de Saint-Brieuc, Agence Nationale de la Recherche (France), Association Française contre les Myopathies, Fondation pour la Recherche Médicale, Fonds de la Recherche en Sante du Québec, and Ministerio de Ciencia e Innovación (España)
Subjects: Male, Charcot–Marie–Tooth neuropathy, Pathology, MESH : Actins, MESH : Charcot-Marie-Tooth Disease, urologic and male genital diseases, Mice, Myelin, 0302 clinical medicine, MESH : Child, Charcot-Marie-Tooth Disease, MESH: Child, MESH: Charcot-Marie-Tooth Disease, Medicine, MESH: Animals, Age of Onset, Child, 0303 health sciences, MESH: Middle Aged, Glomerulosclerosis, Focal Segmental, General Medicine, female genital diseases and pregnancy complications, MESH : Age of Onset, 3. Good health, MESH : Phenotype, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Myelin maintenance, MESH: Young Adult, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Myelin and Lymphocyte-Associated Proteolipid Proteins, MESH: Proteolipids, MESH : Heterozygote, medicine.medical_specialty, Proteolipids, MESH: Age of Onset, MESH : Young Adult, Formins, MESH: Phenotype, MESH: Actins, 03 medical and health sciences, MESH : Adolescent, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, MESH: Myelin Proteins, MESH : Middle Aged, MESH: Adolescent, MESH: Humans, MESH : Humans, Membrane Transport Proteins, Kidney metabolism, MESH: Adult, medicine.disease, MESH : Glomerulosclerosis, Focal Segmental, INF2, Endocrinology, Mutation, MESH: Schwann Cells, MESH: Female, 030217 neurology & neurosurgery, Kidney, MESH: Membrane Transport Proteins, Glomerulosclerosis, Focal segmental glomerulosclerosis, MESH : Membrane Transport Proteins, Peripheral myelin protein 22, MESH : Myelin and Lymphocyte-Associated Proteolipid Proteins, MESH : Female, MESH: Heterozygote, Myelin and Lymphocyte-Associated Proteolipid Proteins, Microfilament Proteins, Middle Aged, MESH : Adult, MESH : Kidney, Phenotype, medicine.anatomical_structure, Female, MESH : Mutation, Myelin Proteins, Adult, Heterozygote, MESH: Mutation, Adolescent, MESH : Microfilament Proteins, MESH: Glomerulosclerosis, Focal Segmental, MESH : Male, MESH : Schwann Cells, MESH : Myelin Proteins, Young Adult, MESH: Microfilament Proteins, Glomerulopathy, Internal medicine, MESH : Mice, Animals, MESH: Mice, 030304 developmental biology, urogenital system, business.industry, Myelin protein zero, MESH: Kidney, Actins, MESH: Male, MESH : Proteolipids, Schwann Cells, MESH : Animals, business
Abstract: Backgrounds: Charcot–Marie–Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance. We therefore hypothesized that INF2 may be responsible for cases of Charcot–Marie–Tooth neuropathy associated with FSGS., Methods: We performed direct genotyping of INF2 in 16 index patients with Charcot–Marie–Tooth neuropathy and FSGS who did not have a mutation in PMP22 or MPZ, encoding peripheral myelin protein 22 and myelin protein zero, respectively. Histologic and functional studies were also conducted., Methods: We identified nine new heterozygous mutations in 12 of the 16 index patients (75%), all located in exons 2 and 3, encoding the diaphanous-inhibitory domain of INF2. Patients presented with an intermediate form of Charcot–Marie–Tooth neuropathy as well as a glomerulopathy with FSGS on kidney biopsy. Immunohistochemical analysis revealed strong INF2 expression in Schwann-cell cytoplasm and podocytes. Moreover, we demonstrated that INF2 colocalizes and interacts with MAL in Schwann cells. The INF2 mutants perturbed the INF2–MAL–CDC42 pathway, resulting in cytoskeleton disorganization, enhanced INF2 binding to CDC42 and mislocalization of INF2, MAL, and CDC42., Conclusions: INF2 mutations appear to cause many cases of FSGS-associated Charcot–Marie–Tooth neuropathy, showing that INF2 is involved in a disease affecting both the kidney glomerulus and the peripheral nervous system. These findings provide new insights into the pathophysiological mechanisms linking formin proteins to podocyte and Schwann-cell function., Funded by the Agence Nationale de la Recherche and others.Supported by grants from the Association pour l'Utilisation du Rein Artificiel (to Dr. Antignac), Association Française contre les Myopathies (ANR-08-GENOPAT-017-01, to Dr. Antignac), Agence Nationale de la Recherche (PodoNet project number ANR-07-E-RARE-011-01 in the ERA-Net Consortium [JTC2007], to Dr. Antignac, and ANR-06-MRAR-024-01, to Dr. Leguern), Fondation pour la Recherche Médicale (project number DMP 2010-11-20-386, to Dr. Antignac, and doctoral funding, to Dr. Boyer), Association des Malades du Syndrome Néphrotique (to Dr. Mollet), Fonds de la Recherche en Santé du Québec (Fellowship Training Award to Dr. Benoit), and Ministerio de Ciencia e Innovación (BFU2009-07886 and CONSOLIDER COAT CSD2009-00016, to Dr. Alonso).
Published: 2011
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7. Smokers in early axial spondyloarthritis have earlier disease onset, more disease activity, inflammation and damage, and poorer function and health-related quality of life: results from the DESIR cohort

Author: Chung, Ho Yin, Machado, Pedro, Van Der Heijde, Désirée, D'Agostino, Maria-Antonietta, Dougados, Maxime, Saraux, Alain, Department of Rheumatology (LEIDEN - Rhumato), Leiden University Medical Center (LUMC), Department of Rheumatology and Clinical Immunology (HONG KONG - Rhumato), The University of Hong Kong (HKU), Department of Rheumatology (COIMBRA - Rhumato), Universidade de Coimbra [Coimbra], Department of Rheumatology, University Hospital Maastricht, Service de Rhumatologie, Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Ambroise Paré, Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], Immunologie et Pathologie (EA2216), Université de Brest (UBO) - IFR148, Centre d'Investigation Clinique (CIC - Brest), Université de Brest (UBO) - Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Brest (UBO)-IFR148, and Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Settore MED/16 - REUMATOLOGIA, Cross-sectional study, [SDV]Life Sciences [q-bio], Health Status, MESH : Sacroiliac Joint, MESH : Spondylitis, Ankylosing, Logistic regression, Severity of Illness Index, MESH: Magnetic Resonance Imaging, Cohort Studies, 0302 clinical medicine, MESH : Back Pain, MESH : Cross-Sectional Studies, MESH: Risk Factors, Risk Factors, Activities of Daily Living, Immunology and Allergy, MESH : Female, 030212 general & internal medicine, Age of Onset, MESH: Sacroiliac Joint, MESH: Cohort Studies, MESH: Health Status, Univariate analysis, education.field_of_study, Smoking, MESH : Adult, MESH: Spondylitis, Ankylosing, MESH : Risk Factors, Magnetic Resonance Imaging, 3. Good health, MESH : Age of Onset, MESH : Smoking, [SDV] Life Sciences [q-bio], MESH: Young Adult, Rheumatoid arthritis, MESH : Severity of Illness Index, Female, Adult, medicine.medical_specialty, MESH: Smoking, MESH: Age of Onset, MESH : Male, Immunology, Population, MESH : Young Adult, MESH : Cohort Studies, General Biochemistry, Genetics and Molecular Biology, MESH: Multivariate Analysis, 03 medical and health sciences, Young Adult, MESH: Cross-Sectional Studies, Rheumatology, Internal medicine, MESH: Severity of Illness Index, MESH : Magnetic Resonance Imaging, medicine, Humans, Spondylitis, Ankylosing, MESH : Health Status, education, Spondylitis, 030203 arthritis & rheumatology, Ankylosing spondylitis, MESH: Humans, business.industry, MESH: Activities of Daily Living, MESH : Humans, MESH: Quality of Life, MESH : Multivariate Analysis, MESH: Adult, Sacroiliac Joint, MESH : Quality of Life, medicine.disease, MESH: Male, Cross-Sectional Studies, Back Pain, MESH: Back Pain, Multivariate Analysis, Physical therapy, Quality of Life, Age of onset, business, MESH : Activities of Daily Living, MESH: Female
Abstract: International audience; OBJECTIVES: To investigate the association of smoking with various clinical, functional and imaging outcomes in patients with early axial spondyloarthritis (SpA). METHODS: 647 patients with early inflammatory back pain (IBP) fulfilling at least one of the internationally accepted SpA criteria and with available smoking data were included in the analyses. Clinical, demographic and imaging parameters were compared between smokers and non-smokers at a cross-sectional level. Variables with significant differences in univariate analyses were used as dependent variables in multivariate linear and logistic regression models adjusted for potential confounding/contributing factors. RESULTS: Multivariate analysis showed that smoking was associated with an earlier onset of IBP (regression coefficient (B)=(-1.46), p=0.04), higher disease activity (ankylosing spondylitis disease activity score B=0.20, p=0.03; Bath ankylosing spondylitis disease activity index B=0.50, p=0.003), worse functional status (Bath ankylosing spondylitis functional index B=0.38, p=0.02), more frequent MRI inflammation of the sacroiliac joints (OR 1.57, p=0.02) and the spine (OR 2.33, p
Published: 2011
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8. HLA-B27 positive patients differ from HLA-B27 negative patients in clinical presentation and imaging: results from the DESIR cohort of patients with recent onset axial spondyloarthritis

Author: Chung, Ho Yin, Machado, Pedro, Van Der Heijde, Désirée, D'Agostino, Maria-Antonietta, Dougados, Maxime, Saraux, Alain, Department of Rheumatology, University Hospital Maastricht, Service de Rhumatologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Immunologie et Pathologie (EA2216), Université de Brest (UBO)-IFR148, Centre d'Investigation Clinique (CIC - Brest), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Ambroise Paré, Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], Université de Brest (UBO) - IFR148, and Université de Brest (UBO) - Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Settore MED/16 - REUMATOLOGIA, Delayed Diagnosis, Spondyloarthropathy, [SDV]Life Sciences [q-bio], MESH : Sacroiliac Joint, MESH: Epidemiologic Methods, Gastroenterology, Severity of Illness Index, MESH: Magnetic Resonance Imaging, 0302 clinical medicine, MESH : Back Pain, Back pain, Immunology and Allergy, MESH : Female, 030212 general & internal medicine, Age of Onset, MESH: Sacroiliac Joint, Axis, Cervical Vertebra, HLA-B27 Antigen, Sacroiliac joint, MESH : Prognosis, MESH: Middle Aged, MESH : Spondylarthritis, MESH : Adult, Middle Aged, Prognosis, Magnetic Resonance Imaging, 3. Good health, MESH : Age of Onset, [SDV] Life Sciences [q-bio], MESH : Phenotype, Cervical Vertebra, medicine.anatomical_structure, Phenotype, MESH: Young Adult, MESH : Severity of Illness Index, Female, medicine.symptom, Axis, musculoskeletal diseases, Adult, medicine.medical_specialty, MESH : Male, MESH: Age of Onset, MESH: Spondylarthritis, Immunology, MESH : Delayed Diagnosis, MESH : HLA-B27 Antigen, MESH : Young Adult, MESH: Phenotype, General Biochemistry, Genetics and Molecular Biology, MESH : Epidemiologic Methods, MESH: Prognosis, 03 medical and health sciences, Young Adult, Rheumatology, Internal medicine, MESH : Magnetic Resonance Imaging, MESH: Severity of Illness Index, Spondylarthritis, medicine, MESH : Sacroiliitis, Humans, MESH : Middle Aged, Sacroiliitis, MESH: Sacroiliitis, 030203 arthritis & rheumatology, Ankylosing spondylitis, HLA-B27, MESH: Humans, MESH : Axis, business.industry, MESH : Humans, MESH: Biological Markers, MESH: Adult, Sacroiliac Joint, medicine.disease, MESH: Male, Surgery, MESH : Biological Markers, MESH: Delayed Diagnosis, Back Pain, MESH: Back Pain, Age of onset, business, MESH: HLA-B27 Antigen, Epidemiologic Methods, MESH: Female, Biomarkers, MESH: Axis
Abstract: International audience; OBJECTIVE: To clarify the influence of human leucocyte antigen B27 (HLA-B27) status on the phenotype of early axial spondyloarthritis (SpA). METHODS: 708 patients with inflammatory back pain (IBP) defined by Calin or Berlin criteria were recruited; 654 fulfilled at least one of the SpA criteria (modified New York, European Spondyloarthropathy Study Group, Amor or Assessment of SpondyloArthritis international Society classification criteria for axial SpA) and were included in the analyses. Clinical, demographic and imaging parameters were compared between HLA-B27 positive and negative groups. Significant parameters in univariate differences between HLA-B27 positive and negative groups were retested in multivariate models explaining various outcomes. RESULTS: Patients had a short duration of axial symptoms (mean 1.5 years) and HLA-B27 was present in 61.5%. In multivariate analysis, HLA-B27 positivity was associated with a younger age at onset of IBP (regression coefficient (B)=(-2.60), p
Published: 2011
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9. 17q21 variants modify the association between early respiratory infections and asthma

Author: Smit, L.A., Bouzigon, E., Pin, V., Siroux, V., Monier, F., Aschard, H., Bousquet, J., Gormand, F., Just, J., le Moual, N., Nadif, R., Scheinmann, P., Vervloet, D., Lathrop, M., Demenais, F., Kauffmann, F., Risk Assessment of Toxic and Immunomodulatory Agents, Dep IRAS, Faraldo, Beatrice, Programme Santé-environnement et Santé-travail - Facteurs environnementaux et interactions gène environnnement dans l'asthme et l'allergie - 2005 - ANR-05-SEST-0020 - SEST - VALID, Division of Environmental Epidemiology, Utrecht University [Utrecht]-Institute of Risk Assessment Sciences, Recherche en épidémiologie et biostatistique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de pédiatrie, CHU Grenoble-Hôpital Michallon, Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de pneumologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pneumologie Allergologie [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), Service de Pneumo-Allergologie, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Supported by the French Ministry of Higher Education and Research, University Paris Diderot-Paris 7, grants from the French Agency for Environmental and Occupational Health Safety (grant AFSSET-APR-SE-2004), the French National Agency for Research (grants ANR 05-SEST-020-02/05-9-97 and ANR 06-CEBS), Merck Sharp & Dohme (MSD), Hospital program of clinical research (PHRC)-Paris, and GABRIEL, a multidisciplinary study to identify the genetic and environmental causes of asthma in the European Community (contract n° 01896 under the Integrated Programme LSH-2004-1.2.5-1 Post genomic approaches to understand the molecular bias of asthma aiming at a preventive or therapeutic control). Lidwien Smit is supported by a European Academy of Allergology and Clinical Immunology- Global Allergy and Asthma European Network (EAACI-GA2LEN) exchange fellowship award., ANR-05-SEST-0020,Facteurs environnementaux et interactions gène environnnement dans l'asthme et l'allergie(2005), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre d'Etude du Polymorphisme Humain ( CEPH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut Universitaire d'Hématologie ( IUH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Fondation Jean Dausset, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut d'oncologie/développement Albert Bonniot de Grenoble ( INSERM U823 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Centre de l'asthme et de l'allergologie, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance Publique - Hôpitaux de Marseille ( APHM ) -Hôpital Sainte-Marguerite [CHU - APHM] ( Hôpitaux Sud ), Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), ANR-06-CEBS,ANR-06-CEBS, Risk Assessment of Toxic and Immunomodulatory Agents, and Dep IRAS
Subjects: Male, MESH: Neoplasm Proteins, MESH : Retrospective Studies, MESH: Asthma, MESH : Respiratory Tract Infections, 0302 clinical medicine, MESH : Child, Risk Factors, immune system diseases, respiratory infection, MESH: Risk Factors, MESH: Child, Epidemiology, MESH : Female, Age of Onset, Young adult, Child, Respiratory Tract Infections, MESH: Genetic Association Studies, 0303 health sciences, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, Respiratory disease, ORMDL3, MESH: Genetic Predisposition to Disease, Respiratory infection, MESH : Chromosomes, Human, Pair 17, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Follow-Up Studies, MESH : Risk Factors, Neoplasm Proteins, MESH : Age of Onset, 3. Good health, MESH: Tobacco Smoke Pollution, Female, epidemiology, MESH: Membrane Proteins, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, MESH : Male, MESH : Sex Factors, MESH: Age of Onset, Single-nucleotide polymorphism, MESH : Asthma, Polymorphism, Single Nucleotide, MESH : Tobacco Smoke Pollution, 03 medical and health sciences, Sex Factors, MESH : Neoplasm Proteins, MESH: Sex Factors, MESH : Adolescent, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Retrospective Studies, 030304 developmental biology, Asthma, Genetic association, MESH: Adolescent, MESH: Humans, business.industry, MESH : Humans, environmental tobacco smoke exposure, Membrane Proteins, MESH : Follow-Up Studies, MESH: Retrospective Studies, MESH : Genetic Association Studies, Odds ratio, medicine.disease, MESH: Male, respiratory tract diseases, gene-environment interaction, 030228 respiratory system, GSDML, MESH : Membrane Proteins, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Immunology, MESH: Respiratory Tract Infections, Tobacco Smoke Pollution, MESH : Genetic Predisposition to Disease, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Chromosomes, Human, Pair 17, MESH: Female, Chromosomes, Human, Pair 17, Follow-Up Studies
Abstract: Single nucleotide polymorphisms (SNPs) at chromosome 17q21 confer an increased risk of early-onset asthma. The objective was to study whether 17q21 SNPs modify associations between early respiratory infections and asthma. Association analysis was conducted in 499 children (268 with asthma, median age 11 yrs) from the Epidemiological Study on the Genetics and Environment of Asthma (EGEA). The 12-yr follow-up data were used to assess persistent or remittent asthma in young adulthood. Respiratory infection before 2 yrs of age was assessed retrospectively. For the 12 17q21 SNPs studied, the odds ratios (OR) for association between infection and early-onset asthma (age at onsetor=4 yrs) were higher in carriers of risk genotypes (OR 3.42-6.36) than in noncarriers (OR 1.84-2.44; p-value for interaction 0.02-0.04 for five SNPs). Risk genotypes also increased the association between infection and childhood asthma that remits in adulthood (OR 4.84-7.16 in carriers and 1.74-2.25 in noncarriers; p-value for interaction 0.008-0.05 for 10 SNPs). In children with 17q21 risk genotypes and early-life environmental tobacco smoke (ETS) exposure, associations between infection and asthma were further enhanced. 17q21 genetic variants and early ETS exposure enhance the association between early respiratory infections and early-onset asthma and childhood asthma that remits in adulthood.
Published: 2010
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10. First isolated extramedullary relapse in children with B-cell precursor acute lymphoblastic leukaemia: results of the Cooprall-97 study

Author: Carine Domenech, Pierre Bordigoni, Marc Puraveau, André Baruchel, Guy Leverger, Emmanuel Plouvier, Gérard Michel, Yves Benoit, Yves Bertrand, Mariette Mercier, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Saint-Jacques, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies (UMR 6174) (FEMTO-ST), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Department of Pediatric Hematology/Oncology, Ghent University Hospital, Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'hématologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Conception et Test de Systèmes MICroélectroniques (SysMIC), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies ( FEMTO-ST ), Université de Technologie de Belfort-Montbeliard ( UTBM ) -Ecole Nationale Supérieure de Mécanique et des Microtechniques ( ENSMM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Franche-Comté ( UFC ), Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Conception et Test de Systèmes MICroélectroniques ( SysMIC ), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier ( LIRMM ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Université de Franche-Comté (UFC), Université de Franche-Comté (UFC)-Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Technologie de Belfort-Montbeliard (UTBM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7), and Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Cancer Research, MESH: Combined Modality Therapy, MESH : Antineoplastic Combined Chemotherapy Protocols, medicine.medical_treatment, MESH : Child, Preschool, MESH : Central Nervous System Neoplasms, Gastroenterology, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH: Central Nervous System Neoplasms, Central Nervous System Neoplasms, 0302 clinical medicine, MESH : Child, MESH: Child, Antineoplastic Combined Chemotherapy Protocols, MESH : Female, Young adult, Age of Onset, Child, MESH: Testicular Neoplasms, MESH: Treatment Outcome, Ovarian Neoplasms, MESH : Neoplasm Recurrence, Local, MESH : Infant, Combined Modality Therapy, MESH: Infant, 3. Good health, MESH : Age of Onset, MESH: Ovarian Neoplasms, MESH: Antineoplastic Combined Chemotherapy Protocols, medicine.anatomical_structure, Treatment Outcome, Oncology, MESH: Young Adult, 030220 oncology & carcinogenesis, Child, Preschool, MESH: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, MESH : Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, MESH : Disease-Free Survival, Female, MESH: Stem Cell Transplantation, MESH: Neoplasm Recurrence, Local, medicine.medical_specialty, Adolescent, MESH : Male, MESH: Age of Onset, MESH : Young Adult, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH : Treatment Outcome, Disease-Free Survival, MESH : Stem Cell Transplantation, 03 medical and health sciences, Young Adult, Testicular Neoplasms, Internal medicine, Acute lymphocytic leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, MESH : Adolescent, medicine, Humans, MESH : Testicular Neoplasms, B cell, MESH: Adolescent, Chemotherapy, MESH: Humans, business.industry, MESH : Ovarian Neoplasms, MESH : Humans, MESH: Child, Preschool, Cancer, Infant, medicine.disease, MESH: Male, Surgery, Radiation therapy, El Niño, MESH: Disease-Free Survival, Age of onset, Neoplasm Recurrence, Local, business, MESH : Combined Modality Therapy, MESH: Female, 030215 immunology, Stem Cell Transplantation
Abstract: International audience; We report on the efficiency of treatment of first isolated extramedullary relapse of B-cell precursor acute lymphoblastic leukaemia. Sixty-eight children and adolescents were included in the trial COPRALL-97. Stratification criteria were time to relapse: first complete remission duration of less than 24 months for group G3A (n=35), relapse beyond 24 months for group G3B (n=33). Treatment consisted of risk-adapted alternating short course multiagent systemic and intrathecal chemotherapy and irradiation (18Gy). Event free survival (EFS) and overall survival (OS) for all registered patients at 6 years were 43% and 55%, respectively. EFS at 4 years for patients of group G3A and G3B were, respectively, 31% and 61% (p=0.0071) while OS at 4 years were, respectively, 40% and 76% (p=0.065). Our analyses highlighted two independent risks factors predictive of decreased EFS: early relapse and age at the initial diagnosis above 6 years. Early central nervous system relapses have a bad prognosis, and new therapeutic strategies are needed.
Published: 2008
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11. Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Author: Claire Pouteil-Noble, Aurélie Philippe, Ernie L. Esquivel, Corinne Antignac, Michel Fischbach, Fabien Nevo, Patrick Niaudet, Thomas Benzing, Olivier Gribouval, Martin Hoehne, Chantal Loirat, Marie-Josèphe Tête, Stéphane Decramer, Marina Charbit, Jacques Dantal, Dalia Reklaityte, Neuropathies héréditaires et rein en développement, Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de néphrologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Institut de transplantation et de recherche en transplantation ( ITERT ), service pédiatrique de dialyse et de transplantation rénales, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service de néphrologie et transplantation, Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, Institut de médecine moléculaire de Rangueil ( I2MR ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Department of Medicine IV, University of Cologne, Service de Génétique Médicale [CHU Necker], Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut de transplantation et de recherche en transplantation (ITERT), Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Simon, Marie Francoise, CHU Toulouse [Toulouse], and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Nephrotic Syndrome, 030232 urology & nephrology, MESH : Child, Preschool, Compound heterozygosity, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, MESH : Child, MESH: Child, Missense mutation, MESH : Female, Age of Onset, Child, Congenital nephrotic syndrome, MESH: Cohort Studies, MESH : Algorithms, 0303 health sciences, biology, Chromosome Mapping, Glomerulonephritis, MESH : Infant, General Medicine, MESH: Infant, 3. Good health, MESH : Age of Onset, Nephrology, Child, Preschool, Female, MESH : Severity of Illness Index, MESH: Membrane Proteins, MESH : Mutation, Algorithms, medicine.medical_specialty, MESH: Mutation, MESH: Age of Onset, MESH : Nephrotic Syndrome, MESH : Male, MESH : Cohort Studies, MESH: Algorithms, Brief Communication, Nephrin, 03 medical and health sciences, Internal medicine, MESH: Severity of Illness Index, medicine, Humans, 030304 developmental biology, MESH: Humans, business.industry, MESH: Child, Preschool, MESH : Humans, Infant, Membrane Proteins, medicine.disease, MESH: Male, Steroid-resistant nephrotic syndrome, Endocrinology, MESH : Membrane Proteins, Mutation, biology.protein, Podocin, MESH: Nephrotic Syndrome, business, MESH: Chromosome Mapping, Nephrotic syndrome, MESH: Female, MESH : Chromosome Mapping
Abstract: International audience; Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome. Recently, however, NPHS2 mutations have been identified in children with congenital nephrotic syndrome. Whether NPHS1 mutations similarly account for some cases of childhood steroid-resistant nephrotic syndrome is unknown. In this study, 160 patients who belonged to 142 unrelated families and presented with nephrotic syndrome at least 3 mo after birth were screened for NPHS1 variants once mutations in NPHS2 had been excluded. Compound heterozygous NPHS1 mutations were identified in one familial case and nine sporadic cases. Mutations included protein-truncating nonsense and frameshift mutations, as well as splice-site and missense variants. Mutations were classified as "severe" or "mild" using prediction algorithms and functional assays. Most missense variants trafficked normally to the plasma membrane and maintained the ability to form nephrin homodimers and to heterodimerize with NEPH1, suggesting retained function. The presence of at least one "mild" mutation in these patients likely explains the later onset and milder course of disease. These results broaden the spectrum of renal disease related to nephrin mutations.
Published: 2008
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12. Recent cancer survival in Europe: a 2000-02 period analysis of EUROCARE-4 data

Author: Verdecchia , Arduino, Francisci , Silvia, Brenner , Hermann, Gatta , Gemma, Micheli , Andrea, Mangone , Lucia, Kunkler , Ian, Renseigné , Non, Danzon , Arlette, Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Evaluative Epidemiology Unit, Fondazione IRCCS, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
Subjects: Oncology, medicine.medical_specialty, MESH: Registries, MESH: Age of Onset, MESH : Europe, MESH : Health Surveys, [SDV.CAN]Life Sciences [q-bio]/Cancer, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, MESH: Health Surveys, Internal medicine, Neoplasms, Epidemiology of cancer, Medicine, Humans, MESH: Neoplasms, 030212 general & internal medicine, Registries, Age of Onset, Stomach cancer, Thyroid cancer, Survival analysis, Gynecology, MESH: Humans, Relative survival, business.industry, cancer survival - period analysis, MESH : Humans, Cancer, MESH : SEER Program, medicine.disease, Health Surveys, Survival Analysis, MESH : Neoplasms, 3. Good health, MESH : Age of Onset, Eastern european, Europe, 030220 oncology & carcinogenesis, MESH: Survival Analysis, MESH: SEER Program, MESH: Europe, MESH : Survival Analysis, business, MESH : Registries, SEER Program
Abstract: International audience; BACKGROUND: Traditional cancer-survival analyses provide data on cancer management at the beginning of a study period, and are often not relevant to current practice because they refer to survival of patients treated with older regimens that might no longer be used. Therefore, shortening the delay in providing survival estimates is desirable. Period analysis can estimate cancer survival by the use of recent data. We aimed to apply the period-analysis method to data that were collected by European cancer registries to estimate recent survival by country and cancer site, and to assess survival changes in Europe. We also compared our findings with data on cancer survival in the USA from the US SEER (Surveillance, Epidemiology, and End Results) programme. METHODS: We analysed survival data for patients diagnosed with cancer in 2000-02, collected from 47 of the European cancer registries participating in the EUROCARE-4 study. 5-year period relative survival for patients diagnosed in 2000-02 was estimated as the product of interval-specific relative survival values of cohorts with different lengths of follow-up. 5-year survival profiles for patients diagnosed in 2000-02 were estimated for the European mean and for five European regions, and findings were compared with US SEER registry data for patients diagnosed in 2000-02. A 5-year survival profile for patients diagnosed in 1991-2002 and a 10-year survival profile for patients diagnosed in 1997-2002 were also estimated by the period method for all malignancies, by geographical area, and by cancer site. FINDINGS: For all cancers, age-adjusted 5-year period survival improved for patients diagnosed in 2000-02, especially for patients with colorectal, breast, prostate, and thyroid cancer, Hodgkin's disease, and non-Hodgkin lymphoma. The European mean age-adjusted 5-year survival calculated by the period method for 2000-02 was high for testicular cancer (97.3% [95% CI 96.4-98.2]), melanoma (86.1% [84.3-88.0]), thyroid cancer (83.2% [80.9-85.6]), Hodgkin's disease (81.4% [78.9-84.1]), female breast cancer (79.0% [78.1-80.0]), corpus uteri (78.0% [76.2-79.9]), and prostate cancer (77.5% [76.5-78.6]); and low for stomach cancer (24.9% [23.7-26.2]), chronic myeloid leukaemia (32.2% [29.0-35.7]), acute myeloid leukaemia (14.8% [13.4-16.4]), and lung cancer (10.9% [10.5-11.4]). Survival for patients diagnosed in 2000-02 was generally highest for those in northern European countries and lowest for those in eastern European countries, although, patients in eastern European had the highest improvement in survival for major cancer sites during 1991-2002 (colorectal cancer from 30.3% [28.3-32.5] to 44.7% [42.8-46.7]; breast cancer from 60% [57.2-63.0] to 73.9% [71.7-76.2]; for prostate cancer from 39.5% [35.0-44.6] to 68.0% [64.2-72.1]). For all solid tumours, with the exception of stomach, testicular, and soft-tissue cancers, survival for patients diagnosed in 2000-02 was higher in the US SEER registries than for the European mean. For haematological malignancies, data from US SEER registries and the European mean were comparable in 2000-02, except for non-Hodgkin lymphoma. INTERPRETATION: Cancer-service infrastructure, prevention and screening programmes, access to diagnostic and treatment facilities, tumour-site-specific protocols, multidisciplinary management, application of evidence-based clinical guidelines, and recruitment to clinical trials probably account for most of the differences that we noted in outcomes.
Published: 2007
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13. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

Author: Sophie Gie, Bernard Boudailliez, Geneviève Guest, Georges Deschênes, Chantal Loirat, Véronique Frémeaux-Bacchi, Anne-Laure Sellier-Leclerc, Denis Morin, Patrick Niaudet, Marie-Agnès Dragon-Durey, Corinne Alberti, Hubert Nivet, Marie-Alice Macher, Michel Fischbach, Michel Tsimaratos, François Bouissou, Service de néphrologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Laboratoire d'Immunologie Biologique, 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)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service de néphrologie 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), Département de Pédiatrie, CHU Amiens-Picardie, Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Service de néphrologie et pédiatrie générale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service de néphrologie [Rennes], CHU Pontchaillou [Rennes]-Hôpital Pontchaillou-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Néphrologie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Pédiatrie, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service de Pédiatrie 1, Hôpital Arnaud de Villeneuve, Hôpital de Clocheville, Unité d'Epidémiologie Clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Simon, Marie Francoise, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Hôpital Nord d' Amiens, Service de néphrologie et pédiatrie générale, CHU Trousseau [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP)-Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de néphrologie, Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), and Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré
Subjects: Male, MESH : Point Mutation, Nephrology, Hemolytic anemia, 030232 urology & nephrology, MESH : Fibrinogen, MESH : Hemolytic-Uremic Syndrome, 030204 cardiovascular system & hematology, medicine.disease_cause, urologic and male genital diseases, Gastroenterology, MESH: Kidney Transplantation, MESH : Antigens, CD46, Plasma, Postoperative Complications, 0302 clinical medicine, MESH : Child, Risk Factors, MESH: Risk Factors, hemic and lymphatic diseases, MESH: Postoperative Complications, MESH: Child, MESH : Female, Age of Onset, Child, MESH: Treatment Outcome, Mutation, MESH : Prognosis, MESH: Genetic Predisposition to Disease, MESH : Infant, General Medicine, Prognosis, MESH : Risk Factors, MESH: Infant, MESH : Age of Onset, MESH : Thrombosis, 3. Good health, Treatment Outcome, MESH: Complement Factor H, MESH: Hemolytic-Uremic Syndrome, Complement Factor H, Female, medicine.medical_specialty, MESH : Male, MESH: Age of Onset, MESH: Antigens, CD46, MESH : Treatment Outcome, Complement factor I, MESH: Prognosis, Membrane Cofactor Protein, 03 medical and health sciences, Internal medicine, Atypical hemolytic uremic syndrome, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, MESH: Thrombosis, MESH: Plasma, MESH: Point Mutation, MESH : Plasma, MESH: Humans, business.industry, Vascular disease, CD46, MESH : Humans, Fibrinogen, Infant, Thrombosis, medicine.disease, Kidney Transplantation, eye diseases, MESH: Male, MESH : Complement Factor H, MESH: Fibrinogen, Hemolytic-Uremic Syndrome, Immunology, MESH : Kidney Transplantation, MESH : Genetic Predisposition to Disease, MESH : Postoperative Complications, business, MESH: Female, Kidney disease
Abstract: International audience; Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study analyzed the impact of complement mutations on the outcome of 46 children with aHUS. A total of 52% of patients had mutations in one or two of known susceptibility factors (22, 13, and 15% of patients with CFH, IF, or MCP mutations, respectively; 2% with CFH+IF mutations). Age
Published: 2007
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14. Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p

Author: Philippe Froguel, Kazuo Hara, Kazuki Yasuda, Shuichi Otabe, Cécile Lecoeur, Takashi Kadowaki, Kazuyuki Tobe, Céline Populaire, Philippe Boutin, Emmanuelle Durand, Terumasa Okada, Christian Dina, Yasumichi Mori, Vincent Vatin, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé - Centre National de la Recherche Scientifique (CNRS), Science et Ingénierie des Matériaux et Procédés (SIMaP), Université Joseph Fourier - Grenoble 1 (UJF) - Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP) - Institut National Polytechnique de Grenoble (INPG) - Centre National de la Recherche Scientifique (CNRS) - Université Grenoble Alpes (UGA), Physique, Aucune, Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Université de Bordeaux (UB) - Centre National de la Recherche Scientifique (CNRS), Développement artériel, Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), Mercator Océan, Société Civile CNRS Ifremer IRD Météo-France SHOM, Itoh laboratory, Division of Materials Physics, Osaka University [Osaka] - School of Engineering Science, Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London - Hammersmith campus, Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Osaka University [Osaka]-School of Engineering Science, Imperial College London-Hammersmith campus, Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), and Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)
Subjects: MESH : Chromosomes, Human, Pair 20, MESH : Transcription Factors, Genetic Linkage, MESH: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Endocrinology, Diabetes and Metabolism, Chromosomes, Human, Pair 20, MESH : Japan, Type 2 diabetes, MESH: Genetic Markers, MESH : Chromosomes, Human, Pair 3, Genome, MESH : Chromosomes, Human, Pair 1, MESH : Chromosomes, Human, Pair 7, 0302 clinical medicine, Japan, MESH : Diabetes Mellitus, Type 2, MESH: Chromosomes, Human, Pair 20, MESH : Genetic Markers, Age of Onset, MESH: Japan, Genetics, 0303 health sciences, education.field_of_study, MESH: Middle Aged, MESH: Nuclear Family, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MESH: Genetic Predisposition to Disease, Chromosome Mapping, MESH: Transcription Factors, Middle Aged, MESH : Adult, MESH : Chromosomes, Human, Pair 15, 3. Good health, MESH : Age of Onset, DNA-Binding Proteins, Hepatocyte Nuclear Factor 4, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 3, MESH: Hepatocyte Nuclear Factor 4, MESH : DNA-Binding Proteins, MESH : Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Chromosomes, Human, Pair 7, MESH: Diabetes Mellitus, Type 2, Adult, Genetic Markers, MESH : Genome, Human, MESH: Chromosomes, Human, Pair 7, MESH: Chromosomes, Human, Pair 1, MESH: Age of Onset, Population, MESH: Chromosomes, Human, Pair 3, 030209 endocrinology & metabolism, Susceptibility gene, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phosphoproteins, Nuclear Family, 03 medical and health sciences, MESH : Hepatocyte Nuclear Factor 4, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, MESH : Middle Aged, education, Gene, MESH: Genome, Human, 030304 developmental biology, Linkage (software), Chromosomes, Human, Pair 15, MESH: Humans, Genome, Human, MESH : Humans, Chromosome, MESH: Adult, medicine.disease, Phosphoproteins, Sib pairs, Diabetes Mellitus, Type 2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH : Genetic Predisposition to Disease, MESH : Nuclear Family, MESH : Phosphoproteins, MESH: Chromosome Mapping, MESH: Linkage (Genetics), MESH: DNA-Binding Proteins, MESH : Linkage (Genetics), MESH : Chromosome Mapping, Transcription Factors, MESH: Chromosomes, Human, Pair 15
Abstract: The genetic background that predisposes the Japanese population to type 2 diabetes is largely unknown. Therefore, we conducted a 10-cM genome-wide scan for type 2 diabetes traits in the 359 affected individuals from 159 families, yielding 224 affected sib-pairs of Japanese origin. Nonparametric multipoint linkage analyses performed in the whole population showed one suggestive linked region on 11p13-p12 (maximum logarithm of odds score [MLS] 3.08, near Pax6) and seven potentially linked regions (MLS >1.17) at 1p36-p32, 2q34, 3q26-q28, 6p23, 7p22-p21, 15q13-q21, and 20q12-q13 (near the gene for hepatocyte nuclear factor-4α [HNF-4α]). Subset analyses according to maximal BMI and early age at diagnosis added suggestive evidence of linkage with type 2 diabetes at 7p22-p21 (MLS 3.51), 15q13-q21 (MLS 3.91), and 20q12-q13 (MLS 2.32). These results support previous indication for linkage found on chromosome 3q, 15q, and 20q in other populations and identifies two new potential loci on 7p and 11p that may confer genetic risk for type 2 diabetes in the Japanese population.
Published: 2002

15. No evidence for diabetes-associated mutations of PEK/EIF2AK3 gene in French patients with early-onset type II diabetes

Author: Francis Vasseur, Yamina Benmezroua, Philippe Froguel, M Vaxillaire, Emmanuelle Durand, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Développement artériel, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mercator Océan, Société Civile CNRS Ifremer IRD Météo-France SHOM, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London-Hammersmith campus, Froguel, Philippe, Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Université de Lille, Droit et Santé - Centre National de la Recherche Scientifique (CNRS), Physique, Aucune, Université de Bordeaux (UB) - Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), and Imperial College London - Hammersmith campus
Subjects: medicine.medical_specialty, MESH: Mutation, Endocrinology, Diabetes and Metabolism, MESH: Age of Onset, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Type ii diabetes, MESH: eIF-2 Kinase, eIF-2 Kinase, 03 medical and health sciences, 0302 clinical medicine, MESH : Diabetes Mellitus, Type 2, Internal medicine, Diabetes mellitus, MESH : eIF-2 Kinase, Internal Medicine, medicine, Humans, 030212 general & internal medicine, EIF2AK3, Age of Onset, Gene, 030304 developmental biology, Early onset, 0303 health sciences, MESH: Humans, MESH : Humans, medicine.disease, MESH : Age of Onset, Endocrinology, Diabetes Mellitus, Type 2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, MESH : Mutation, MESH: Diabetes Mellitus, Type 2
Published: 2001

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15 results on '"MESH : Age of Onset"'

1. Characteristics of Uveitis Presenting for the First Time in the Elderly: Analysis of 91 Patients in a Tertiary Center

2. The advantage of women in cancer survival: An analysis of EUROCARE-4 data

3. Incidence and survival of gastric non-Hodgkin's lymphoma: A population-based study from the Association of the French Cancer Registries (FRANCIM)

4. Markers of recurrence and long-term morbidity in craniopharyngioma: a systematic analysis of 171 patients

5. Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

6. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

7. Smokers in early axial spondyloarthritis have earlier disease onset, more disease activity, inflammation and damage, and poorer function and health-related quality of life: results from the DESIR cohort

8. HLA-B27 positive patients differ from HLA-B27 negative patients in clinical presentation and imaging: results from the DESIR cohort of patients with recent onset axial spondyloarthritis

9. 17q21 variants modify the association between early respiratory infections and asthma

10. First isolated extramedullary relapse in children with B-cell precursor acute lymphoblastic leukaemia: results of the Cooprall-97 study

11. Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

12. Recent cancer survival in Europe: a 2000-02 period analysis of EUROCARE-4 data

13. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

14. Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p

15. No evidence for diabetes-associated mutations of PEK/EIF2AK3 gene in French patients with early-onset type II diabetes

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