Author: "Maher B" / Topic: medicine - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Maher B"' showing total 24 results

Start Over Author "Maher B" Topic medicine

24 results on '"Maher B"'

1. The Self-Confidence Level of Dental Students in Alkafeel University College of Dentistry in Dental Clinical Practice Between the Fourth and Final Stage: A Comparative Study

Author: Karar N Shareef, Maher B Mohammed, and Abdulsahib S Jubran
Subjects: Medicine
Published: 2022
Full Text: View/download PDF

2. Case Report: Shewanella algae, a rare cause of osteosynthesis-associated infection [version 2; peer review: 2 approved]

Author: Sofiane Masmoudi, Hajer Battikh, Mohamed Ali Khlif, Khaled Zitouna, Meriam Zribi, and Maher Barsaoui
Subjects: Shewanella, Osteosynthesis, Infection, Osteosynthesis-associated infection, Hematogenous, eng, Medicine, Science
Abstract: Shewanella is an emerging human pathogen. It mostly causes skin and soft tissue infections. Osteosynthesis-associated infection involving Shewanella are rare and in most cases are secondary to direct contamination following open fractures in aquatic environments. Here, we present a rare case of hematogenous osteosynthesis-associated infection involving Shewanella algae affecting an 18-year-old patient who was operated on for 12th thoracic vertebrae and 4th lumbar vertebrae fractures occurring in an aquatic environment. We performed surgical debridement with subsequent double course parenteral antibiotherapy that was then adapted to bacteria sensitivities for three weeks. After a follow-up of six months, the patient had no signs of recurrent infection. The presence of infected dermabrasions and the concordance between germs isolated in operative samples and in blood cultures presumes that the contamination was hematogenous.
Published: 2024
Full Text: View/download PDF

3. Assessment of depression symptoms among cancer patients: a cross-sectional study from a developing country

Author: Maher Battat, Nawal Omair, Mohammad A. WildAli, Aidah Alkaissi, Riad Amer, Amer A. Koni, Husam T. Salameh, and Sa’ed H. Zyoud
Subjects: Palestine, Depression symptoms, Cancer patients, Oncology, BDI-II, Medicine, Science
Abstract: Abstract Cancer patients experience psychological symptoms such as depression during the cancer treatment period, which increases the burden of symptoms. Depression severity can be assessed using the beck depression inventory (BDI II). The purpose of the study was to use BDI-II scores to measure depression symptoms in cancer patients at a large tertiary hospital in Palestine. A convenience sample of 271 cancer patients was used for a cross-sectional survey. There are descriptions of demographic, clinical, and lifestyle aspects. In addition, the BDI-II is a tool for determining the severity of depression. Two hundred seventy-one patients participated in the survey, for a 95% response rate. Patients ranged in age from 18 to 84 years, with an average age of 47 years. The male-to-female ratio was approximately 1:1, and 59.4% of the patients were outpatients, 153 (56.5%) of whom had hematologic malignancies. Most cancer patients (n = 104, 38.4%) had minimal depression, while 22.5%, 22.1%, and 17.0% had mild, moderate, and severe depression, respectively. Education level, economic status, smoking status, and age were significantly associated with depression. The BDI-II is a useful instrument for monitoring depressive symptoms. The findings support the practice of routinely testing cancer patients for depressive symptoms as part of standard care and referring patients who are at a higher risk of developing psychological morbidity to specialists for treatment as needed.
Published: 2024
Full Text: View/download PDF

4. Factors associated with palliative care symptoms in cancer patients in Palestine

Author: Maher Battat, Nawal Omair, Mohammad A. WildAli, Aidah Alkaissi, Husam T. Salameh, Riad Amer, Amer A. Koni, and Sa’ed H. Zyoud
Subjects: Medicine, Science
Abstract: Abstract Palliative care is critical to redundancy in cancer patients seeking to improve their quality of life. Evaluation should be incorporated into clinical practice routines at all stages of cancer. The Edmonton Symptom Assessment System (ESAS) was used to rate the intensity of ten symptom evaluations designed and validated for cancer patients in various languages and cultures. Therefore, the study aims to assess the symptoms reported using ESAS scores to identify patients who would benefit from palliative care that can improve the integration of palliative care into standard cancer care at An-Najah National University Hospital (NNUH). A cross-sectional study was selected for 271 cancer patients using a convenience sampling method at NNUH. Demographic, clinical, and lifestyle characteristics are described. Furthermore, patients' moderate to severe symptoms (score > 4) were obtained using ESAS-R. The survey consisted of 271 patients, with a response rate of 95%. The average age of the patients was 47 ± 17.7 years, ranging from 18 to 84 years. The male-to-female ratio was approximately 1:1, 59.4% of the patients were outpatients, and 153 (56.5%) had hematologic malignancies. Fatigue (62.7%) and drowsiness (61.6%) were the most common moderate to severe symptoms in ESAS. Furthermore, pain (54.6%), nausea (40.2%), lack of appetite (55.0%), shortness of breath (28.5%), depression (40.6%), anxiety (47.2%) and poor well-being (56.5%) were reported. In conclusion, fatigue and drowsiness were the most reported symptoms according to the ESAS scale among cancer patients, while moderate to severe symptoms were reported in cancer patients using the ESAS. The ESAS is a functional tool for assessing cancer patients' symptoms and establishing palliative care services.
Published: 2023
Full Text: View/download PDF

5. Dementia: Formal Care, Assistance, and Caregivers

Author: Yuchi Young, Maher B, and Nakashima T
Subjects: Abstracts, Health (social science), Text mining, Nursing, business.industry, medicine, Dementia, Life-span and Life-course Studies, medicine.disease, Psychology, business, Health Professions (miscellaneous)
Abstract: Introduction. The disease burden of dementia extends far beyond the healthcare and social needs of the person with dementia; its associated long-term care cost is prohibitive. To promote better care planning, this study aims to determine the diagnosis and care pathways for persons with dementia in the U.S. in comparison to Japan. Methods. Data was collected through semi-structured interviews of health professionals from various dementia care and service organizations (n=10). Qualitative analyses were performed to determine themes related to diagnosis and care pathways. Results. Similar to Japan, the U.S. has multiple access points to the diagnosis pathway. However, the U.S. diagnosis pathway often relies on entities that are not related to healthcare such as police officers, family members, neighbors, or adult protection services, while Japan has long-term care insurance with predetermined points of entry. Similar to the diagnosis pathway, the care pathway in the U.S. is more complex and is dictated by types of insurance plans and their coverage. Conclusion. Japan’s diagnosis and care pathway has multiple access points, but each access point has a specific entity that coordinates it. Without national health insurance and universal long-term care coverage in the US, the navigation of the diagnosis and the care pathways is a daunting task. To promote early diagnosis and to reduce institutional care and related costs, a single point of entry, with professional assessment and case management that offer consumers one-stop access to information, support, and linkages to local care services, is essential.
Published: 2018

6. Case Report: Tuberculous abscess of the popliteal fossa: A case report [version 1; peer review: 2 approved]

Author: Maher Barsaoui, Mohamed Achref Ferjani, Yosri Abcha, Hedi Belhassen, and Mohamed Ali Khlif
Subjects: Tuberculosis, knee, abscess, diagnosis, therapeutic, eng, Medicine, Science
Abstract: Introduction Tuberculosis of the soft tissues is a rare form of extra pulmonary tuberculosis, and isolated localization in the popliteal fossa is particularly exceptional. Atypical clinical presentation can lead to delayed diagnosis and serious complications. Case report We report the case of a 17-year-old patient who was diagnosed with tuberculosis of the popliteal fossa. He presented with a painful inflammatory swelling of the right popliteal fossa associated with a homolateral inguinal lymph node, without knee joint effusion. Standard chest and knee X-rays were normal, while MRI showed an 8 cm well vascularized, partly liquefied mass in the popliteal fossa, developed in contact with the semimembranosus and medial gastrocnemius muscles, associated with a popliteal lymph node without synovial effusion or thickening. Microbiological tests did not isolate any germs. The diagnosis was made on histological examination after biopsy, which revealed a caseous granuloma surrounded by epithelioid cells. The patient was treated with anti-tuberculosis therapy for 9 months. The clinical and radiological regression of the swelling was observed without recurrence at 2 years of follow-up. Conclusion Any soft tissue abscess should raise suspicion of tuberculosis, especially in endemic countries. The importance of histopathological examination should be emphasized to establish the diagnosis in the absence of signs in favor of a primary localization.
Published: 2023
Full Text: View/download PDF

7. Plasma protein biomarkers for primary graft dysfunction after lung transplantation: a single-center cohort analysis

Author: Lourdes Chacon-Alberty, Rupa S. Kanchi, Shengbin Ye, Camila Hochman-Mendez, Daoud Daoud, Cristian Coarfa, Meng Li, Sandra L. Grimm, Maher Baz, Ivan Rosas, and Gabriel Loor
Subjects: Medicine, Science
Abstract: Abstract The clinical use of circulating biomarkers for primary graft dysfunction (PGD) after lung transplantation has been limited. In a prospective single-center cohort, we examined the use of plasma protein biomarkers as indicators of PGD severity and duration after lung transplantation. The study comprised 40 consecutive lung transplant patients who consented to blood sample collection immediately pretransplant and at 6, 24, 48, and 72 h after lung transplant. An expert grader determined the severity and duration of PGD and scored PGD at T0 (6 h after reperfusion), T24, T48, and T72 h post-reperfusion using the 2016 ISHLT consensus guidelines. A bead-based multiplex assay was used to measure 27 plasma proteins including cytokines, growth factors, and chemokines. Enzyme-linked immunoassay was used to measure cell injury markers including M30, M65, soluble receptor of advanced glycation end-products (sRAGE), and plasminogen activator inhibitor-1 (PAI-1). A pairwise comparisons analysis was used to assess differences in protein levels between PGD severity scores (1, 2, and 3) at T0, T24, T48, and T72 h. Sensitivity and temporal analyses were used to explore the association of protein expression patterns and PGD3 at T48–72 h (the most severe, persistent form of PGD). We used the Benjamini–Hochberg method to adjust for multiple testing. Of the 40 patients, 22 (55%) had PGD3 at some point post-transplant from T0 to T72 h; 12 (30%) had PGD3 at T48–72 h. In the pairwise comparison, we identified a robust plasma protein expression signature for PGD severity. In the sensitivity analysis, using a linear model for microarray data, we found that differential perioperative expression of IP-10, MIP1B, RANTES, IL-8, IL-1Ra, G-CSF, and PDGF-BB correlated with PGD3 development at T48–72 h (FDR
Published: 2022
Full Text: View/download PDF

8. Schizophrenia genetic variants are not associated with intelligence

Author: van Scheltinga, Af, Bakker, Sc, van Haren, Ne, Derks, Em, Buizer Voskamp, Je, Cahn, W, Ripke, S, Sanders, A, Kendler, K, Levinson, D, Sklar, P, Holmans, P, Lin, D., Duan, J, Ophoff, R, Andreassen, O, Scolnick, E, Cichon, S, St Clair, D, Corvin, A, Gurling, H, Werge, T, Rujescu, D, Blackwood, D, Pato, C, Malhotra, A, Purcell, S, Dudbridge, F, Neale, B, Rossin, L, Visscher, P, Posthuma, D, Ruderfer, D, Fanous, A, Stefansson, H, Steinberg, S, Mowry, B, Golimbet, V, Hert, De, M, Jonsson, E, Bitter, I, Pietilainen, O, Collier, D, Tosato, Sarah, Agartz, I, Albus, M, Alexander, M, Amdur, R, Amin, F, Bass, N, Bergen, S, Black, D, Børglum, A, Brown, M, Bruggeman, R, Buccola, N, Byerley, W, Cantor, R, Carr, V, Catts, S, Choudhury, K, Cloninger, C, Cormican, P, Craddock, N, Danoy, P, Datta, S, Haan, De, L, Demontis, D, Dikeos, D, Djurovic, S, Donnelly, P, Donohoe, G, Duong, L, Dwyer, S, Fink Jensen, A, Freedman, R, Freimer, N, Friedl, M, Georgieva, L, Giegling, I, Gill, M, Glenthøj, B, Godard, S, Hamshere, M, Hansen, M, Hansen, T, Hartmann, A, Henskens, F, Hougaard, D, Hultman, C, Ingason, A, Jablensky, A, Jakobsen, K, Jay, M, Jurgens, G, Kahn, R, Keller, M, Kenis, G, Kenny, E, Kim, Y, Kirov, G, Konnerth, H, Konte, B, Krabbendam, L, Krasucki, R, Lasseter, V, Laurent, C, Lawrence, J, Lencz, T, Lerer, F, Liang, K, Lichtenstein, P, Lieberman, J, Linszen, D, Lonnqvist, J, Loughland, C, Maclean, A, Maher, B, Maier, W, Mallet, J, Malloy, P, Mattheisen, M, Mattingsdal, M, Mcghee, K, Mcgrath, J, Mcintosh, A, Mclean, D, Mcquillin, A, Melle, I, Michie, P, Milanova, V, Morris, D, Mors, O, Mortensen, P, Moskvina, V, Muglia, P, Myin Germeys, I, Nertney, D, Nestadt, G, Nielsen, J, Nikolov, I, Nordentoft, M, Norton, N, Nothen, M, O'Dushlaine, C, Olincy, A, Olsen, L, O'Neill, F, Ørntoft, T, Owen, M, Pantelis, C, Papadimitriou, G, Pato, M, Peltonen, L, Petursson, H, Pickard, B, Pimm, J, Pulver, A, Puri, V, Quested, D, Quinn, E, Rasmussen, H, Rethelyi, Jm, Ribble, R, Rietschel, M, Riley, B, Ruggeri, Mirella, Schall, U, Schulze, T, Schwab, S, Scott, R, Shi, J, Sigurdsson, E, Silverman, J, Spencer, C, Stefansson, K, Strange, A, Strengman, E, Stroup, T, Suvisaari, J, Terenius, L, Thirumalai, S, Thygesen, J, Timm, S, Toncheva, D, van den Oord, E, van Os, J, van Winkel, R, Veldink, J, Walsh, D, Wang, A, Wiersma, D, Wildenauer, D, Williams, H, Williams, N, Wormley, B, Zammit, S, Sullivan, P, O'Donovan, M, Daly, M, Gejman, P), Ophoff, Ra, Kahn, Rs, Functional Genomics, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Adult Psychiatry
Subjects: Oncology, Adult, Male, Psychosis, medicine.medical_specialty, Multifactorial Inheritance, DNA Copy Number Variations, Endophenotypes, Schizophrenia (object-oriented programming), Intelligence, SNP, Single-nucleotide polymorphism, Genome-wide association study, polygenic, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, Cognition, Internal medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, deletion, Cognitive decline, Applied Psychology, Genetic association, Genetics, Wechsler Scales, Wechsler Adult Intelligence Scale, medicine.disease, endophenotype, Psychiatry and Mental health, duplication, IQ, Endophenotype, Schizophrenia, Female, Psychology, cognition, schizophrenia, Genome-Wide Association Study
Abstract: BackgroundSchizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence.MethodIQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data were calculated in a sample collected by the Psychiatric Genome-Wide Association Study (GWAS) Consortium (8690 schizophrenia patients and 11 831 controls). These were used to calculate individual PSSs in our independent sample of 350 schizophrenia patients and 322 healthy controls.ResultsAlthough significantly more genes were disrupted by deletions in schizophrenia patients compared to controls (p = 0.009), there was no effect of CNV measures on IQ. The PSS was associated with disease status (R2 = 0.055, p = 2.1 × 10−7) and with IQ in the entire sample (R2 = 0.018, p = 0.0008) but the effect on IQ disappeared after correction for disease status.ConclusionsOur data suggest that rare and common schizophrenia-associated variants do not explain the variation in IQ in healthy subjects or in schizophrenia patients. Thus, reductions in IQ in schizophrenia patients may be secondary to other processes related to schizophrenia risk.
Published: 2013
Full Text: View/download PDF

9. Genetic Relationship between Schizophrenia and Nicotine Dependence

Author: Chen, Jingchun, Bacanu, S. A., Yu, H., Zhao, Z., Jia, P., Kendler, K. S., Kranzler, H. R., Gelernter, J., Farrer, L., Minica, C., Pool, R., Milaneschi, Y., Boomsma, D. I., Penninx, B. W., Tyndale, R. F., Ware, J. J., Vink, J. M., Kaprio, Jaakko, Munafo, M., Chen, X., Loukola, Anu, Mangino, M., Menni, C., Chen, J., Peterson, R., Auro, Kirsi, Lyytikäinen, Leo-Pekka, Wedenoja, Juho, Stiby, A. I., Hemani, G., Willemsen, G., Hottenga, J. J., Korhonen, Tellervo, Heliövaara, Markku, Perola, Markus, Rose, R., Paternoster, L., Timpson, N., Wassenaar, C. A., Zhu, A. Z., Smith, G. D., Raitakari, Olli, Lehtimäki, Terho, Kähönen, Mika, Koskinen, Seppo, Spector, T., Salomaa, Veikko, Taylor, M., Maes, H., Riley, B., Sherva, R., Maher, B., Vanyukov, M., Biological Psychology, EMGO+ - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Sociology and Social Gerontology, Psychiatry, EMGO - Mental health, Amsterdam Neuroscience - Complex Trait Genetics, Institute for Molecular Medicine Finland, Department of Public Health, and Genetic Epidemiology
Subjects: Male, Netherlands Twin Register (NTR), 0301 basic medicine, Genome-wide association study, Brain and Behaviour, Bioinformatics, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Polymorphism (computer science), Gene Regulatory Networks, Cotinine, RISK, Genetics, Multidisciplinary, Tobacco and Alcohol, COMMON VARIANTS, BIPOLAR DISORDER, Tobacco Use Disorder, 3142 Public health care science, environmental and occupational health, FALSE DISCOVERY RATE, 3. Good health, Schizophrenia, Female, LONG-TERM POTENTIATION, SMOKERS, Signal Transduction, Fagerstrom Test for Nicotine Dependence, RBFOX1, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, medicine, Humans, SMOKING-BEHAVIOR, TOBACCO SMOKING, Bipolar disorder, GENOME-WIDE ASSOCIATION, Gene, RECEPTOR SUBUNIT GENE, ta1184, medicine.disease, ta3124, 030104 developmental biology, chemistry, 3111 Biomedicine, Developmental Psychopathology, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: It is well known that most schizophrenia patients smoke cigarettes. There are different hypotheses postulating the underlying mechanisms of this comorbidity. We used summary statistics from large meta-analyses of plasma cotinine concentration (COT), Fagerström test for nicotine dependence (FTND) and schizophrenia to examine the genetic relationship between these traits. We found that schizophrenia risk scores calculated at P-value thresholds of 5 × 10−3 and larger predicted FTND and cigarettes smoked per day (CPD), suggesting that genes most significantly associated with schizophrenia were not associated with FTND/CPD, consistent with the self-medication hypothesis. The COT risk scores predicted schizophrenia diagnosis at P-values of 5 × 10−3 and smaller, implying that genes most significantly associated with COT were associated with schizophrenia. These results implicated that schizophrenia and FTND/CPD/COT shared some genetic liability. Based on this shared liability, we identified multiple long non-coding RNAs and RNA binding protein genes (DA376252, BX089737, LOC101927273, LINC01029, LOC101928622, HY157071, DA902558, RBFOX1 and TINCR), protein modification genes (MANBA, UBE2D3, and RANGAP1) and energy production genes (XYLB, MTRF1 and ENOX1) that were associated with both conditions. Further analyses revealed that these shared genes were enriched in calcium signaling, long-term potentiation and neuroactive ligand-receptor interaction pathways that played a critical role in cognitive functions and neuronal plasticity.
Published: 2016
Full Text: View/download PDF

10. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Author: Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S., Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Université de Lyon, Klinikum Oldenburg [Oldenburg], Zentrum für Kinder- und Jugendmedizin, Dpt of Pediatric Neurology and Developmental Medicine and Epilepsy Center [Munich], University of Munich, Department of Medical Genetics, Institute of Mother and Child, Division of Child Neurology, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Dpt of Molecular Biology and Genetics Istanbul, Boǧaziçi üniversitesi = Boğaziçi University [Istanbul], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève], Hôpitaux Universitaires de Genève (HUG), Institute of Human Genetics [Tuebingen], University of Tuebingen, Institute of Medical Genetics and Applied Genomics [Tübingen], University of Tübingen, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Svt. Luka's Institute of Child Neurology and Epilepsy, Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Genetikum, Neurogenetics Group, Division of Genetic Medicine [Seattle], University of Washington [Seattle], CeGaT GmbH, Institut für Humangenetik, Universität Heidelberg [Heidelberg], Mignot, Cyril, von Stülpnagel, Celina, Korff, Christian, EuroEPINOMICS-RES MAE Working Grp, HAL-UPMC, Gestionnaire, Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupement Hospitalier Lyon-Est (GHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Boğaziçi University [Istanbul], CHU Trousseau [APHP], and Universität Heidelberg [Heidelberg] = Heidelberg University
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Encephalopathy, Myoclonic Jerk, SYNGAP1, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, fluids and secretions, Medizinische Fakultät, Intellectual disability, mental disorders, Genetics, medicine, ddc:610, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Exome, Genetics (clinical), reproductive and urinary physiology, ddc:618, business.industry, medicine.disease, Hypotonia, 3. Good health, 030104 developmental biology, Autism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed.Results We describe 17 unrelated affected individuals carrying 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. Seizures in patients with mutations in exons 4–5 were more pharmacoresponsive than in patients with mutations in exons 8–15.Conclusions SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.
Published: 2016
Full Text: View/download PDF

11. Job Disengagement Among Physical Education Teachers: Insights From a Cross-sectional Web-Based Survey With Path Modeling Analysis

Author: Nasr Chalghaf, Wen Chen, Amayra Tannoubi, Noomen Guelmami, Luca Puce, Noureddine Ben Said, Maher Ben Khalifa, Fairouz Azaiez, and Nicola Luigi Bragazzi
Subjects: Medicine
Abstract: BackgroundPhysical education teachers often experience stress and job disengagement. ObjectiveThis study’s aims were as follows: (1) to adapt in the Arabic language and test the reliability and the validity of the work–family conflict (WFC) and family–work conflict (FWC) scales, (2) to develop and assess the psychometric properties of work disengagement among physical education teachers, and (3) to evaluate an explanatory model by presenting the mediating role of perceived stress as a major influencing factor in work disengagement and job satisfaction. MethodsA total of 303 primary and secondary school physical education teachers, comprising 165 (54.5%) men and 138 (45.5%) women participated voluntarily in our study. The measuring instruments are the Work Disengagement Scale, the Perceived Stress Scale, the WFC scale, the FWC scale, and the 9-item Teacher of Physical Education Job Satisfaction Inventory. ResultsThe Arabic language versions of the WFC and FWC scales had reasonably adequate psychometric properties, which were justified by confirmatory factor analyses and by the measurement of reliability, convergent, and discriminant validity through the measurement model using SmartPLS software. Similarly, the structural model established with SmartPLS confirmed strong links of the concepts of FWC, WFC, the job satisfaction questionnaire, and perceived stress with work disengagement among teachers of physical education. ConclusionsThere is a growing interest in helping teachers cope with the daily pressures of work and family. A positive organizational context is a context with clear values regarding work priorities, which constitutes the basis of a feeling of shared responsibility and professional support. Good conditions can act as protective factors reducing work stress and positively influencing personal well-being, work attitudes, work commitment, and professional efficiency. Additional research on teachers is needed to examine the relationship between perceived work stress and the role of families, along with the extent to which this association can have a significant impact on teachers’ commitment to work.
Published: 2022
Full Text: View/download PDF

12. Helicobacter pylori and Egyptian infantile colic

Author: Adel S A Ali and Maher B M Borei
Subjects: Male, Pediatrics, medicine.medical_specialty, Colic, Physical examination, Infantile colic, Helicobacter Infections, medicine, Animals, Humans, Medical history, biology, medicine.diagnostic_test, Helicobacter pylori, business.industry, Vaginal delivery, Case-control study, Infant, biology.organism_classification, medicine.disease, Case-Control Studies, Vomiting, Egypt, Female, medicine.symptom, business, Breast feeding
Abstract: Excessive infant crying is a common and often stress-inducing condition for parents that can ultimately result in infant abuse. Although the infantile colic is reported commonly and causes appreciable distress for both parents and pediatricians, its pathogenesis remains unclear, despite 40 years of research. This work studied the role of H. pylori in infantile colic. This study was conducted in a primary health care office in Sharkia Governorate. The study included 50 infants with infantile colic according to Wessel's criteria, along with age and sex matched 50 healthy controls. All-infants without apparent cause for their colic underwent full history taking, clinical examination and H. pylori antigen in their stools. This study supports the new evidence for the role of H. pylori in the pathogenesis of infantile colic. H. pylori stool antigen was present in 31 (62%) of cases in contrast to 10 (20%) of controls (P
Published: 2013

13. Gait-speed and oxygen flow during six-minute walk test predicts mortality in patients with advanced lung disease

Author: Irina Timofte, Adriano Tonelli, Montserrat Diaz-Abad, Avelino Verceles, Nicholas Ladikos, Aldo Iacono, Martin L. Terrin, Marniker Wijesinha, Olufemi Akindipe, and Maher Baz
Subjects: Six-minute walk test, gait-speed, advanced lung disease, lung transplantation, survival, Medicine
Abstract: The six-minute walk test (6MWT) is a useful tool to predict outcomes in patients with advanced lung diseases. Greater distance walked has been shown to have more favorable prognostic value compared to other recorded variables. We reviewed the medical records of 164 patients with advanced lung disease who underwent lung transplant evaluation. Results of the 6MWT (distance walked, oxygen required, and mean gait speed) were recorded and analyzed with respect to mortality. 6MWT mean oxygen (O2) flow via nasal cannula was 3.5 ± 3.7 L/min. The distance walked in meters (m) and % predicted were inversely associated with mortality, OR: 0.995 (0.992-0.998) and 0.970 (0.950-0.990), respectively. Patients who walked < 200 meters (OR: 2.1 (1.1-4.0)) or < 45% of predicted, OR: 2.7 (1.2-5.7) had higher mortality. O2 flow during the test had a direct association with mortality (OR: 1.1 (1.0-1.2). In multivariate analysis, O2 flow > 3.5 L/min remained predictive of mortality, OR: 1.1 (1.0-1.2). Mean gait speed was higher in patient who lived compared with patients who died (mean 0.83 ± 0.35 m/mim vs mean 0.69 ± 0.33 m/min, respectively, p= 0.03). Gait speed was a predictor of survival, OR 3.4 (1.1, 10.6). O2 flow during the 6MWT was an independent predictor of mortality in patients with advanced lung disease. The patients that required more than 3.5 L/m of O2 had a higher mortality. Faster gait speed during the 6MWT was also associated with better survival.
Published: 2020
Full Text: View/download PDF

14. Prevalence of asymptomatic urinary abnormalities among adolescents

Author: Mohamed Fouad and Maher Boraie
Subjects: Medicine
Abstract: To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1%) individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8%) at the second screening, (P
Published: 2016
Full Text: View/download PDF

15. Acetabular roof stress fracture: a rare cause of hip pain in children

Author: Zied Jlalia, Mehdi Bellil, and Maher Ben Ghachem
Subjects: stress fracture, acetabulum, magnetic resonance imaging, Medicine
Abstract: Stress fracture of acetabular roof is an unusual cause of hip pain. It is considered as an underdiagnosed entity. People who are more susceptible to experience this fracture are athletes, soldiers and dancers. We present the case of an 11 year old girl with a roof acetabular stress fracture for which the diagnosis and follow-ups were possible by the means of MRI. The treatment was keeping the child at a complete rest. Failure to abide with this treatment can cause the stress fracture to evaluate into a complete fracture.
Published: 2016
Full Text: View/download PDF

16. Atteinte laryngée révélatrice d'un lupus érythémateux systémique

Author: Salem Bouomrani, Hanéne Nouma, Safouane Chebbi, and Maher Béji
Subjects: lupus, laryngolupus, larynx, connectivité, Medicine
Abstract: L'atteinte laryngée est extrêmement rare au cours du lupus érythémateux systémique (LES). Elle survient classiquement au cours des formes évolutives et actives et n'est qu'exceptionnellement révélatrices. Nous rapportons l'observation d'une patiente âgée de 30 sans antécédents qui fût explorée pour une dysphonie d'aggravation progressive et trainante depuis trois ans. L'examen endoscopique du larynx montrait des kissing nodules de la commissure postérieure des cordes vocales. L'examen somatique trouvait une polyarthrite bilatérale, symétrique et distale. Le bilan biologique montrait un syndrome inflammatoire marqué, une leucopénie à 2400/mm3 et une lymphopénie à 1300/mm3. Les anticorps anti nucléaire étaient positifs à un titre supérieur à 80 avec des anti DNA natif et anti Sm positifs; de même que les anticardiolipine. Le scanner du larynx révélait un discret épaississement irrégulier postérieur des cordes vocales et une épiglottite. Le diagnostic d'un lupus était retenu et la malade était mise sous corticostéroïdes systémiques associés aux antipaludéens de synthèse avec orthophonie et repos vocal. L'évolution était favorable cliniquement et endoscopiquement. Depuis sa description initiale en 1959, plusieurs cas sporadiques d'atteinte laryngée ont été rapporté au cours du LES. La forme révélatrice n'est cependant signalée que seulement deux fois auparavant. Un examen laryngoscopique systématique s'impose ainsi chez tout patient lupique ; de même il convient de penser au LES devant toute atteinte laryngée qui ne fait pas sa preuve surtout chez la femme jeune.
Published: 2015
Full Text: View/download PDF

17. Cancer pulmonaire au cours d'une thromboangéite oblitérante de Léo Buerger

Author: Salem Bouomrani, Alaeddine Slama, Hanéne Nouma, and Maher Béji
Subjects: thromboangéite oblitérante, maladie de buerger, cancer pulmonaire, vascularite, tumeur, Medicine
Abstract: Notre objectif est de rapporter une observation particulière de néoplasie pulmonaire survenant au cours d'une angéite oblitérante de Léo Buerger. Il s'agit d'un patient de 42 ans, grand tabagique (30 PA) diagnostiqué ayant la maladie de Buerger devant l'association de phlébites et d'artérite distale avec des oblitérations et des sténoses artérielles confirmées par l'échographie, le doppler veineux et artériel, la phlébographie et l'artériographie. Quatorze ans après le diagnostic initial de la vascularite, il se présentait avec une douleur et faiblesse du membre supérieur droit. L'examen clinique concluait à une névralgie cervico brachiale type C7-C8. La radiographie de thorax montrait une opacité apicale droite hétérogène de 5 cm de grand axe avec lyse costale du deuxième arc antérieur droit. Le scanner X thoracique montrait une masse tumorale du segment apical droit associée à des adénopathies médiastinales. La biopsie bronchique concluait à un carcinome épidermoïde bien différencié. Cette association soulève le rôle pathogène du tabac dans la genèse de ces deux maladies. Une surveillance thoracique (clinique et radiologique) rigoureuse se trouve justifiée chez le porteur d'une thromboangéite oblitérante surtout que cette dernière se déclare classiquement à un âge plus jeune que celui du cancer broncho-pulmonaire.
Published: 2015
Full Text: View/download PDF

18. Bloc auriculo-ventriculaire complet cortico-sensible au cours d'une maladie de Horton

Author: Salem Bouomrani, Hanéne Nouma, Alaeddine Slama, and Maher Béji
Subjects: bloc auriculo-ventriculaire complet, maladie de horton, vascularite, Medicine
Abstract: La maladie de Horton (MH) est une vascularite granulomateuse des gros vaisseaux du sujet âgé. L'atteinte cardiaque reste exceptionnelle au cours de cette affection et est souvent la conséquence de l'aortite inflammatoire. Nous rapportons une observation exceptionnelle de bloc auriculo-ventriculaire (BAV) complet associée à une poussée de cette vascularite et discutons ses différents mécanismes pathogéniques plausibles. Il s'agit d'une patiente âgée de 68 ans traitée pour une MH confirmée par la biopsie temporale depuis dix mois et fût hospitalisée pour dyspnée aigue et syncopes à deux reprises. L'examen somatique était sans anomalies hormis une fréquence cardiaque à 45 bpm. La radiographie de thorax était normale. L'électrocardiogramme (ECG) objectivait un BAV complet. L'enregistrement de l'ECG endocavitaire montrait une onde H élargie compatible avec un bloc intra Hissien. Sa maladie de Horton était en poussée avec une aortite évolutive attestée par l'angio-scanner X thoracique. Le bilan étiologique de ce BAV était négatif. L'évolution était favorable sous corticothérapie systémique à raison de 0.7 mg/kg/j initiée par trois boli de méthylprednisolone avec retour au rythme sinusal et absence de récidive à dix-huit mois de recul. Notre observation est, à notre connaissance, la première rapportant un BAV complet au cours de la MH. Nous avançons comme mécanisme possible une vascularite des vasa vasorum du tissu nodal.
Published: 2015
Full Text: View/download PDF

19. Lymphèdème unilatéral du membre supérieur au cours d'une polyarthrite rhumatoïde

Author: Salem Bouomrani, Hanène Nouma, Alaeddine Slama, Safouane Chebbi, Marwa Neffoussi, Afef Fara, and Maher Beji
Subjects: polyarthrite rhumatoïde, lymphèdème chronique, lymphographie, lympho-scintigraphie, Medicine
Abstract: Les lymphèdèmes chroniques et localisés des membres ne sont qu'exceptionnellement signalés au cours de la polyarthrite rhumatoïde (PR). Nous rapportons l'observation d'une patiente âgée de 63 ans ayant une PR diagnostiquée depuis dix ans et traitée par hydroxychloroquine, prednisone et méthotrexate avec une bonne évolution fût explorée pour une tuméfaction du membre supérieur gauche évoluant depuis deux ans. À l'examen clinique on notait un membre infiltré en totalité, indolore, élastique et recouvert d'une peau tendue, luisante mais d'aspect normal. Le reste de l'examen somatique était sans particularités. La biologie ne montrait pas d'anomalies. L'imagerie médicale (radiographies-X standards des os de l'avant bras et du thorax, scanner-X thoracique, échographie des parties molles et du creux axillaire, doppler artériel et veineux du membre atteint et écho-mammographie) se révélait normale. La lympho-scintigraphie concluait à l'absence de visualisation du réseau lymphatique superficiel gauche. Le diagnostic de lymphèdème secondaire associé à la PR était retenu devant la négativité du bilan étiologique. Une kinésithérapie de drainage lymphatique fût prescrite en association à des assauts cortisoniques mais l'amélioration n'était que partielle. Parmi les manifestations extra articulaires de la PR, les lymphèdèmes chroniques localisés des membres restent inhabituels et souvent méconnus. Leurs mécanismes physiopathologiques sont mal élucidés et leur traitement ne fait pas encore l'unanimité. Ils gardent en revanche une implication pronostique fonctionnelle majeure.
Published: 2015
Full Text: View/download PDF

20. Lithiases rénales bilatérales et récidivantes révélant une maladie de Wilson

Author: Salem Bouomrani, Hanéne Nouma, Marwa Neffoussi, and Maher Béji
Subjects: maladie de wilson, lithiase rénale, cuivre, hypercalciurie, Medicine
Abstract: L'atteinte rénale au cours de la maladie de Wilson est récemment connue. Elle est dominée par l'hypercalciurie souvent asymptomatique et survenant au cours de l'évolution de la maladie. Nous rapportons une observation originale de lithiases rénales bilatérales, multiples et récidivantes comme première manifestation de la maladie de Wilson. Il s'agit d'un patient de 40 ans ayant comme antécédents des coliques néphrétiques bilatérales et trainantes en rapport avec des calculs rénaux bilatéraux évoluant depuis dix ans. Ils ont fait l'objet de plusieurs consultations chez les praticiens de ville avec plusieurs traitements symptomatiques mais sans amélioration. Le diagnostic de MW était fait à l'occasion d'une étude de famille suite au diagnostic de l'affection chez la séur. Il a été traité par D-Penicillamine à raison de 20 mg/Kg/j avec une diète pauvre en cuivre. L'évolution était favorable cliniquement avec une réduction nette de la calciurie. Le dosage de la cupriurie peut être ainsi utile dans le bilan étiologique d'une lithiase urinaire qui ne fait pas sa preuve; surtout si récidivante, multiple et bilatérale.
Published: 2015
Full Text: View/download PDF

21. Carcinome hépatocellulaire non fibrolamellaire sur foie sain

Author: Salem Bouomrani, Ichrak Kilani, Hanéne Nouma, Alaeddine Slama, and Maher Beji
Subjects: carcinome hépatocellulaire, foie sain, cancer, foie non cirrhotique, Medicine
Abstract: Le carcinome hépatocellulaire (CHC) survient le plus souvent sur foie de cirrhose. Sa survenue sur un foie sain est exceptionnelle et pose un véritable défit diagnostique pour le clinicien. Nous rapportons l'observation d'un patient de 53 ans, sans antécédents pathologiques notables qui fût admis pour exploration d'une douleur de l'hypochondre droit évoluant depuis quelques mois avec une exacerbation récente, associée à un amaigrissement important et une altération de l'état général. L'examen clinique notait une hépatomégalie ferme et douloureuse. L'échographie abdominale montrait une masse hétérogène du secteur latéral droit du foie faisant 10 cm de grand axe. La TDM abdominale montrait une masse tissulaire, hétérogène, à vascularisation artérielle importante, mesurant 10 cm de diamètre et occupant le secteur latéral droit du foie. Cette tumeur comprime la branche portale droite sans signes d'extension. Il n'y avait pas d'adénopathie ni d'épanchement intra abdominal. La ponction biopsique écho-guidée avait conclu à un CHC non fibrolamellaire. Le bilan biologique, en particulier les transaminases, le taux de prothrombine, l'électrophorèse des protéines sanguine et l'alpha foeto-protéine, était sans anomalies. Les sérologies de l'hépatites virales B et C ainsi que la recherche des auto anticorps spécifiques des hépatites auto immunes et le bilan cuprique étaient aussi négatives. Vue l'âge, le stade avancé de la tumeur et l'altération de l'état général la conduite thérapeutique était de s'abstenir.
Published: 2014
Full Text: View/download PDF

22. Explicit and implicit emotional expression in bulimia nervosa in the acute state and after recovery.

Author: Salomé Tárrega, Ana B Fagundo, Susana Jiménez-Murcia, Roser Granero, Cristina Giner-Bartolomé, Laura Forcano, Isabel Sánchez, Juan José Santamaría, Maher Ben-Moussa, Nadia Magnenat-Thalmann, Dimitri Konstantas, Mikkel Lucas, Jeppe Nielsen, Richard G A Bults, Tony Lam, Theodoros Kostoulas, Nikos Fakotakis, Nadine Riesco, Ines Wolz, Josep Comín-Colet, Valentina Cardi, Janet Treasure, José Antonio Fernández-Formoso, José Manuel Menchón, and Fernando Fernández-Aranda
Subjects: Medicine, Science
Abstract: Expression of emotional state is considered to be a core facet of an individual's emotional competence. Emotional processing in BN has not been often studied and has not been considered from a broad perspective. This study aimed at examining the implicit and explicit emotional expression in BN patients, in the acute state and after recovery. Sixty-three female participants were included: 22 BN, 22 recovered BN (R-BN), and 19 healthy controls (HC). The clinical cases were drawn from consecutive admissions and diagnosed according to DSM-IV-TR diagnostic criteria. Self reported (explicit) emotional expression was measured with State-Trait Anger Expression Inventory-2, State-Trait Anxiety Inventory, and Symptom Check List-90 items-Revised. Emotional facial expression (implicit) was recorded by means of an integrated camera (by detecting Facial Feature Tracking), during a 20 minutes therapeutic video game. In the acute illness explicit emotional expression [anxiety (p
Published: 2014
Full Text: View/download PDF

23. Medical School Attrition-Beyond the Statistics A Ten Year Retrospective Study

Author: Maher Bridget M, Hynes Helen, Sweeney Catherine, Khashan Ali S, O’Rourke Margaret, Doran Kieran, Harris Anne, and Flynn Siun
Subjects: Medical school attrition, Dropout, Exit interviews, Student welfare services, Academic difficulty, Absenteeism, Special aspects of education, LC8-6691, Medicine
Abstract: Abstract Background Medical school attrition is important - securing a place in medical school is difficult and a high attrition rate can affect the academic reputation of a medical school and staff morale. More important, however, are the personal consequences of dropout for the student. The aims of our study were to examine factors associated with attrition over a ten-year period (2001–2011) and to study the personal effects of dropout on individual students. Methods The study included quantitative analysis of completed cohorts and qualitative analysis of ten-year data. Data were collected from individual student files, examination and admission records, exit interviews and staff interviews. Statistical analysis was carried out on five successive completed cohorts. Qualitative data from student files was transcribed and independently analysed by three authors. Data was coded and categorized and key themes were identified. Results Overall attrition rate was 5.7% (45/779) in 6 completed cohorts when students who transferred to other medical courses were excluded. Students from Kuwait and United Arab Emirates had the highest dropout rate (RR = 5.70, 95% Confidence Intervals 2.65 to 12.27;p Absenteeism was documented in 30% of students, academic difficulty in 55.7%, social isolation in 20%, and psychological morbidity in 40% (higher than other studies). Qualitative analysis revealed recurrent themes of isolation, failure, and despair. Student Welfare services were only accessed by one-third of dropout students. Conclusions While dropout is often multifactorial, certain red flag signals may alert us to risk of dropout including non-EU origin, academic struggling, absenteeism, social isolation, depression and leave of absence. Psychological morbidity amongst dropout students is high and Student Welfare services should be actively promoted. Absenteeism should prompt early intervention. Behind every dropout statistic lies a personal story. All medical schools have a duty of care to support students who leave the medical programme.
Published: 2013
Full Text: View/download PDF

24. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Author: Samuel Kuperman, Leila Karhunen, Geòrgia Escaramís, Sébastien Guillaume, Kelly L. Klump, David C. Whiteman, Colin A. Hodgkinson, Stephanie H. Witt, Artemis Tsitsika, Hana Papezova, Renato Polimanti, P. Eline Slagboom, Peter Zill, Jakob Grove, Toni-Kim Clarke, Michael Soyka, Jennifer Jordan, Steven Gallinger, Philip Gorwood, Preben Bo Mortensen, Yuri Milaneschi, Ingrid Meulenbelt, Jen Chyong Wang, Markus M. Nöthen, Katrin Männik, Henry R. Kranzler, Michael M. Vanyukov, Anna Keski-Rahkonen, William G. Iacono, Raymond K. Walters, Stephanie Le Hellard, Bochao Danae Lin, Vesna Boraska Perica, Marion Roberts, Patrick F. Sullivan, Steven Crawford, Mark A. Frye, Melissa A. Munn-Chernoff, Hakon Hakonarson, Andreas Birgegård, Robert Culverhouse, Alexis C. Edwards, Jerome C. Foo, Alessandro Rotondo, Brenda W.J.H. Penninx, Laura M. Hack, Michael T. Lynskey, Mario Maj, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Julie K. O'Toole, Marta Tyszkiewicz-Nwafor, Matt McGue, Julien Bryois, Martina de Zwaan, Norbert Dahmen, Stefanie Heilmann-Heimbach, Deborah Kaminská, Benedetta Nacmias, Nicholas G. Martin, Anna R. Docherty, Christopher Hübel, Nancy L. Pedersen, Janet Treasure, William E. Copeland, Roger A.H. Adan, Jaakko Kaprio, Aarno Palotie, L. John Horwood, Maria La Via, Philippe Courtet, Virpi M. Leppä, Judy L. Silberg, Jason D. Boardman, Fazil Aliev, Wade H. Berrettini, Doo Sup Choi, Youl-Ri Kim, Konstantinos Hatzikotoulas, Harriet de Wit, Sandra A. Brown, Elisabeth Widen, Caroline Hayward, Nicholas J. Schork, Penelope A. Lind, Ralph E. Tarter, Jana Strohmaier, Allan S. Kaplan, Richard A. Grucza, Bradley T. Webb, Angela Favaro, Dalila Pinto, Helena Gaspar, Andrew W. Bergen, Beate Herpertz-Dahlmann, Robert Levitan, Wolfgang Gäbel, Xavier Estivill, Emma C. Johnson, Konstantinos Tziouvas, Lindsay A. Farrer, Lenka Foretova, Marc A. Schuckit, Joanna M. Biernacka, André Scherag, Robbee Wedow, Abraham A. Palmer, Amy E. Adkins, Franziska Degenhardt, Louisa Degenhardt, Jurjen J. Luykx, Marius Lahti-Pulkkinen, Brien P. Riley, Monika Ridinger, Matteo Cassina, Harry Brandt, Yiran Guo, Stephan Ripke, Palmiero Monteleone, Katri Räikkönen, Jonathan R. I. Coleman, Martin A. Kennedy, Stephen W. Scherer, Ioanna Tachmazidou, Catherine M. Olsen, Bernice Porjesz, Esther Walton, Yi-Ling Chou, Nicolas Ramoz, Tetsuya Ando, Andres Metspalu, Bertram Müller-Myhsok, Brion S. Maher, Sarah Bertelsen, Melanie L. Schwandt, Janiece E. DeSocio, Margaret Keyes, John F. Pearson, Dongbing Lai, Paul Lichtenstein, James MacKillop, George Dedoussis, Jari Lahti, Ulrike Schmidt, Stefan Ehrlich, Amanda G. Wills, Teemu Palviainen, David Goldman, Elena Tenconi, Dimitris Dikeos, Scott I. Vrieze, Sietske G. Helder, Katharina Buehren, Hongyu Zhao, Sara McDevitt, Jolanta Lissowska, Joseph M. Boden, Li-Shiun Chen, Susanne Lucae, Sara Marsal, Dan Rujescu, Claes Norring, Howard J. Edenberg, Victor M. Karpyak, Fragiskos Gonidakis, Per Hoffmann, Christopher S. Franklin, Karin Egberts, Johanna Giuranna, Stefan Herms, Leah Wetherill, Stephanie Zerwas, Anthony Batzler, Elliot C. Nelson, Jouke-Jan Hottenga, Marcella Rietschel, Ioanna Ntalla, Victor Hesselbrock, Sarah M. Hartz, Marie Navratilova, Falk Kiefer, Martien J H Kas, Richard J. Rose, Andrew C. Heath, Jin P. Szatkiewicz, Lenka Slachtova, Lisa Lilenfeld, Katherine A. Halmi, John P. Rice, Anjali K. Henders, Christian Dina, Norbert Wodarz, Satu Männistö, Hamdi Mbarek, Shuyang Yao, Vladimir Janout, Alison Goate, Bettina Konte, Alexandra Schosser, Danfeng Chen, Kirsty Kiezebrink, Euijung Ryu, Dana B. Hancock, James Mitchell, Sarah E. Medland, Ina Giegling, Valdo Ricca, Scott D. Gordon, Gabrielle Koller, Samuli Ripatti, Laura M. Thornton, Alison D. Murray, Morten Mattingsdal, Zeynep Yilmaz, Jens Treutlein, Kathleen K. Bucholz, Tim B. Bigdeli, Eric F. van Furth, Hermine H. Maes, Ken B. Hanscombe, Sandra Sanchez-Roige, Daniela Degortes, Monica Forzan, Manuel Mattheisen, Richard Sherva, Scott J. Crow, Mikael Landén, Wolfgang Herzog, Jeanette N. McClintick, Tõnu Esko, Louis Fox, Wolfgang Maier, Liselotte Petersen, Laura J. Bierut, Roseann E. Peterson, Gursharan Kalsi, Kathleen Mullan Harris, Margarita C T Slof-Op 't Landt, Tamara L. Wall, Patrik K. E. Magnusson, Unna N. Danner, Stephan Zipfel, Ulrich W. Preuss, Elisa Docampo, D. Blake Woodside, Alfonso Tortorella, Benjamin W. Domingue, Franziska Ritschel, Johan G. Eriksson, Anu Raevuori, Benjamin M. Neale, Marcus Ising, Annemarie A. van Elburg, Filip Rybakowski, Maureen Reynolds, Tracey D. Wade, Manfred M. Fichter, Monica Gratacos Mayora, Claudette Boni, Andreas J. Forstner, John Whitfield, Silviu Alin Bacanu, Matthew B. McQueen, Andrew M. McIntosh, Norbert Scherbaum, Tatiana Foroud, Gun Peggy Knudsen, Sven Cichon, Christian J. Hopfer, Josef Frank, Eleftheria Zeggini, Federica Tozzi, Nadia Micali, Danielle M. Dick, Pamela A. F. Madden, Christian R. Marshall, Johannes Hebebrand, Fernando Fernández-Aranda, Roel A. Ophoff, Roland Burghardt, Nathaniel Thomas, Leonid Padyukov, Nancy L. Saccone, Anu Loukola, Fabian Streit, James L. Kennedy, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Pei Hong Shen, Anne Farmer, Roger D. Cone, Ilka Boehm, Jacquelyn L. Meyers, Paolo Santonastaso, Maurizio Clementi, Susana Jiménez-Murcia, Gudrun Wagner, Anke Hinney, Richard Parker, James I. Hudson, Nathan A. Gillespie, Michael Strober, John I. Nurnberger, Sandro Sorbi, Dorret I. Boomsma, Beata Świątkowska, Janne Tidselbak Larsen, Kenneth S. Kendler, Hidetoshi Inoko, Jessica E. Salvatore, Hunna J. Watson, Jochen Seitz, Jacques Pantel, Karl Mann, Hang Zhou, Antonio Julià, Oliver S. P. Davis, Nancy Diazgranados, Krista Fischer, John K. Hewitt, Karen S. Mitchell, Joanna Hauser, Eric O. Johnson, Craig Johnson, E. Jane Costello, Agnieszka Słopień, Dong Li, Laramie E. Duncan, Arpana Agrawal, Grant W. Montgomery, Manuel Föcker, Thomas Werge, Lannie Ligthart, Andreas Karwautz, Raquel Rabionet, Kenneth Krauter, Joel Gelernter, James J. Crowley, Cynthia M. Bulik, Paola Giusti-Rodríguez, Laura M. Huckins, Gerome Breen, Michael C. Stallings, Daniel E. Adkins, Pierre J. Magistretti, John Kramer, Lars Alfredsson, Hartmut Imgart, Annette M. Hartmann, Ole A. Andreassen, Monika Dmitrzak-Weglarz, Psychiatry, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Department Psychiatry [Chapel Hill], University of North Carolina System (UNC)-University of North Carolina System (UNC), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], QIMR Berghofer Medical Research Institute, Karolinska Institutet [Stockholm], University Children's Hospital of Essen [Essen, Germany], University of Duisburg-Essen, Aarhus University [Aarhus], Stockholm County Council, University of Würzburg, Guy's Hospital [London], University Medical Center [Utrecht], University of Gothenburg (GU), Altrecht Center for Eating Disorders Rintveld [Zeist, The Netherlands] (Mental Health Institute), National Institute of Mental Health [Tokyo, Japan] (NIMH), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Oslo (UiO), Norwegian Centre for Mental Disorders Research [Oslo] (NORMENT), University of Oslo (UiO)-Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB)-Oslo University Hospital [Oslo], Department of Psychiatry [Philadelphia], University of Pennsylvania [Philadelphia], Perelman School of Medicine, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Split, The Wellcome Trust Sanger Institute [Cambridge], RWTH Aachen University, Universitätsklinikum Frankfurt, Universita degli Studi di Padova, University Hospital Basel [Basel], Jülich Supercomputing Centre (JSC), Forschungszentrum Jülich GmbH | Centre de recherche de Juliers, Helmholtz-Gemeinschaft = Helmholtz Association-Helmholtz-Gemeinschaft = Helmholtz Association, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Minnesota System, University of Bristol [Bristol], Hannover Medical School [Hannover] (MHH), Harokopio University of Athens, Seattle University [Seattle], Virginia Commonwealth University (VCU), University of Athens Medical School [Athens], 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), Poznan University of Medical Sciences [Poland] (PUMS), Institute of Environmental Science and Technology [Barcelona] (ICTA), Universitat Autònoma de Barcelona (UAB), Massachusetts General Hospital [Boston], Stanford University, MetaGenoPolis (MGP (US 1367)), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Estonian Genome and Medicine, University of Tartu, Universitat Pompeu Fabra [Barcelona] (UPF), MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, Department of Psychiatry (IDIBELL), CIBERobn Fisiopatología de la Obesidad y Nutrición-University Hospital of Bellvitge, Ludwig-Maximilians-Universität München (LMU), Infectious diseases division, Department of internal medicine, University of Münster, Masaryk Memorial Cancer Institute, Masaryk Memorial Cancer Institute (RECAMO), Universitätsklinikum Bonn (UKB), Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital [Toronto, Canada] (MSH), Medstar Research Institute, Universität Duisburg-Essen [Essen], National and Kapodistrian University of Athens (NKUA), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics, Psychiatric Genetic Unit, Poznan University of Medical Sciences, Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinikum Essen, Centre for Epidemiology and Biostatistics, Faculty of Medicine and Health Leeds, University of Leeds, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Heidelberg University Hospital [Heidelberg], Icahn School of Medicine at Mount Sinai [New York] (MSSM), School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, 4072, Australia., Parkland-Klinik [Bad Wildungen-Reinhardshausen, Germany], Tokai University, Department of Epidemiology and Public Health [university of Ostrava], Lékařská fakulta / Faculty of Medicine [University of Ostrava], Ostravská univerzita / University of Ostrava-Ostravská univerzita / University of Ostrava, Vall d'Hebron University Hospital [Barcelona], Charles University [Prague] (CU), University of Eastern Finland, Medizinische Universität Wien = Medical University of Vienna, Centre de toxicomanie et de santé mentale [Toronto, ON, Canada], University of Helsinki, University of Aberdeen, Faculty of Science, J.E. Purkinje University, J. E. Purkinje University, Michigan State University System, Norwegian Institute of Public Health [Oslo] (NIPH), Haukeland University Hospital, University of Bergen (UiB), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), The Chicago School of Professional Psychology [Washington, District of Columbia, USA] (Washington DC Campus), Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Brain and Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Department of Psychiatry, University of Napoli, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], University College Cork (UCC), Section Molecular Epidemiology, Leiden University Medical Center (LUMC), Institute of Psychiatry, King's College, VA Boston Healthcare System, Università degli studi della Campania 'Luigi Vanvitelli', Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Kartini Clinic [Portland, Oregon, USA], University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Head of Medical Sequencing, Vanderbilt University School of Medicine [Nashville], The Hospital for sick children [Toronto] (SickKids), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Department of Medical Epidemiology and Biostatistics (MEB), University of Pisa - Università di Pisa, Division of Psychiatric Genomics, Institute of Medical Informatics, Biometry and Epidemiology, Department of Molecular and Experimental Medicine, The Scripps Research Institute, The Scripps Research Institute, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Leiden University Medical Center (LUMC), Center for Eating Disorders Ursula [Leiden, The Netherlands] (Rivierduinen), Medical University of Łódź (MUL), The Jackson Laboratory [Bar Harbor] (JAX), Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Utrecht University [Utrecht], SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Human Genetics, Internal Medicine [Tuebingen, Germany], Tuebingen University [Germany], Oregon Research Institute (ORI), University of Otago [Dunedin, Nouvelle-Zélande], The Center for Eating Disorders at Sheppard Pratt [Baltimore, MD, USA], Weill Medical College of Cornell University [New York], Eating Recovery Center [Denver, CO, USA], Centre for Addiction and Mental Health [Toronto, ON, Canada], University of California [San Diego] (UC San Diego), University of California, Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Institute of Medical Science [Toronto], University of Toronto, Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Sahlgrenska Academy at University of Gothenburg [Göteborg], Department of Genomics, Yale University School of Medicine, Indiana University School of Medicine, Indiana University System, Mayo Clinic [Rochester], Mayo Clinic, SUNY Downstate Medical Center, State University of New York (SUNY), University of Edinburgh, Department of Genomics, Life and Brain Center, University of Bonn, University of Utah School of Medicine [Salt Lake City], University of Heidelberg, Medical Faculty, Department of Psychiatry and Behavioral Sciences, Howard University College of Medicine, Department of Genomics [Bonn, Germany] (Institute of Human Genetics), University of Bonn-Institute of Human Genetics [Bonn, Germany], National Institutes of Health [Bethesda] (NIH), National Institute on Alcohol Abuse and Alcoholism [Bethesda, MD, USA] (NIAAA), Martin-Luther-University Halle-Wittenberg, Helsinki Institute of Life Science (HiLIFE), Johns Hopkins Bloomberg School of Public Health [Baltimore], Johns Hopkins University (JHU), Vrije Universiteit Amsterdam [Amsterdam] (VU), Mathematical Sciences Institute (MSI), Australian National University (ANU), University of Colorado [Boulder], VU University Medical Center [Amsterdam], Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Universität Heidelberg [Heidelberg], Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Harvard University [Cambridge], University of Colorado Anschutz [Aurora], University of Vermont [Burlington], University of New South Wales [Sydney] (UNSW), University of Dusseldorf, Genetics and Pathology, Center for Human Genetic Research, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Heidelberg University, University of Iowa [Iowa City], Vienna University of Technology (TU Wien), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Psychiatry and Psychotherapy, Rheinische Friedrich-Wilhelms-Universität Bonn, Chronic Disease Epidemiology and Prevention Unit, National Institute for Health and Welfare [Helsinki], Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Indiana University System-Indiana University System, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Regensburg, Rush University Medical Center [Chicago], University of Utah, Duke University Medical Center, University of Illinois [Chicago] (UIC), University of Illinois System, Department of Medical and Molecular Genetics, Dpt of Neuroscience [New York], Laboratory of Neurogenetics, National Institutes of Health [Bethesda] (NIH)-National Institute on Alcohol Abuse and Alcoholism, Department of Health and Human Services, University of Connecticut (UCONN), University of Colorado [Denver], Research Triangle Institute International (RTI International), McMaster University [Hamilton, Ontario], CLinical Psychology, Department of Electrical and Computer Engineering [Montréal], McGill University = Université McGill [Montréal, Canada], Yale School of Public Health (YSPH), Analytic and Translational Genetics Unit, Flinders University [Adelaide, Australia], Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Department of Public Health, Indiana University - Purdue University Indianapolis (IUPUI), National Institute of Mental Health (NIMH), University of Pennsylvania, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Università degli Studi di Padova = University of Padua (Unipd), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), 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), King‘s College London-The Institute of Psychiatry, Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Masaryk Memorial Cancer Institute (MMCI), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Università degli Studi di Firenze = University of Florence (UniFI), Department of Molecular Medicine [Scripps Research Institute], The Scripps Research Institute [La Jolla, San Diego], Medical Research Council-Cardiff University, Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of California (UC), University of California (UC)-University of California (UC), Yale School of Medicine [New Haven, Connecticut] (YSM), Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Martinez Rico, Clara, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, APH - Digital Health, Kas lab, Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL), Munn-Chernoff, M. A., Johnson, E. C., Chou, Y. -L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hubel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Berrettini, W. H., Boehm, I., Boni, C., Boraska Perica, V., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacos Mayora, M., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op't Landt, M. C. T., Slopien, A., Sorbi, S., Swiatkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Grove, J., Henders, A. K., Larsen, J. T., Parker, R., Petersen, L. V., Jordan, J., Kennedy, M. A., Birgegard, A., Lichtenstein, P., Norring, C., Landen, M., Mortensen, P. B., Polimanti, R., Mcclintick, J. N., Adkins, A. E., Aliev, F., Bacanu, S. -A., Batzler, A., Bertelsen, S., Biernacka, J. M., Bigdeli, T. B., Chen, L. -S., Clarke, T. -K., Degenhardt, F., Docherty, A. R., Edwards, A. C., Foo, J. C., Fox, L., Frank, J., Hack, L. M., Hartmann, A. M., Hartz, S. M., Heilmann-Heimbach, S., Hodgkinson, C., Hoffmann, P., Hottenga, J. -J., Konte, B., Lahti, J., Lahti-Pulkkinen, M., Lai, D., Ligthart, L., Loukola, A., Maher, B. S., Mbarek, H., Mcintosh, A. M., Mcqueen, M. B., Meyers, J. L., Milaneschi, Y., Palviainen, T., Peterson, R. E., Ryu, E., Saccone, N. L., Salvatore, J. E., Sanchez-Roige, S., Schwandt, M., Sherva, R., Streit, F., Strohmaier, J., Thomas, N., Wang, J. -C., Webb, B. T., Wedow, R., Wetherill, L., Wills, A. G., Zhou, H., Boardman, J. D., Chen, D., Choi, D. -S., Copeland, W. E., Culverhouse, R. C., Dahmen, N., Degenhardt, L., Domingue, B. W., Frye, M. A., Gaebel, W., Hayward, C., Ising, M., Keyes, M., Kiefer, F., Koller, G., Kramer, J., Kuperman, S., Lucae, S., Lynskey, M. T., Maier, W., Mann, K., Mannisto, S., Muller-Myhsok, B., Murray, A. D., Nurnberger, J. I., Preuss, U., Raikkonen, K., Reynolds, M. D., Ridinger, M., Scherbaum, N., Schuckit, M. A., Soyka, M., Treutlein, J., Witt, S. H., Wodarz, N., Zill, P., Adkins, D. E., Boomsma, D. I., Bierut, L. J., Brown, S. A., Bucholz, K. K., Costello, E. J., de Wit, H., Diazgranados, N., Eriksson, J. G., Farrer, L. A., Foroud, T. M., Gillespie, N. A., Goate, A. M., Goldman, D., Grucza, R. A., Hancock, D. B., Harris, K. M., Hesselbrock, V., Hewitt, J. K., Hopfer, C. J., Iacono, W. G., Johnson, E. O., Karpyak, V. M., Kendler, K. S., Kranzler, H. R., Krauter, K., Lind, P. A., Mcgue, M., Mackillop, J., Madden, P. A. F., Maes, H. H., Magnusson, P. K. E., Nelson, E. C., Nothen, M. M., Palmer, A. A., Penninx, B. W. J. H., Porjesz, B., Rice, J. P., Rietschel, M., Riley, B. P., Rose, R. J., Shen, P. -H., Silberg, J., Stallings, M. C., Tarter, R. E., Vanyukov, M. M., Vrieze, S., Wall, T. L., Whitfield, J. B., Zhao, H., Neale, B. M., Wade, T. D., Heath, A. C., Montgomery, G. W., Martin, N. G., Sullivan, P. F., Kaprio, J., Breen, G., Gelernter, J., Edenberg, H. J., Bulik, C. M., and Agrawal, A.
Subjects: Netherlands Twin Register (NTR), Alcoholism/genetics, Schizophrenia/genetics, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Medizin, Medicine (miscellaneous), Genome-wide association study, Alcohol use disorder, Anorexia nervosa, Linkage Disequilibrium, ddc:616.89, [SCCO]Cognitive science, 0302 clinical medicine, Risk Factors, Tobacco Use Disorder/genetics, Substance-Related Disorders/genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Factors de risc en les malalties, Bulimia nervosa, Feeding and Eating Disorders/genetics, eating disorders, genetic correlation, substance use, Tobacco Use Disorder, 3. Good health, Fenotip, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Alcoholism, Eating disorders, Phenotype, Schizophrenia, Drinking of alcoholic beverages, eating disorder, Consum d'alcohol, Major depressive disorder, medicine.symptom, Depressive Disorder, Major/genetics, eating disorders, genetic correlation, substance use, Clinical psychology, Substance abuse, Risk factors in diseases, Substance-Related Disorders, Polymorphism, Single Nucleotide, Article, Feeding and Eating Disorders, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, Genetics, medicine, Humans, Trastorns de la conducta alimentària, 030304 developmental biology, Genetic association, Pharmacology, Depressive Disorder, Major, Binge eating, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO] Cognitive science, medicine.disease, Comorbidity, Twin study, 030227 psychiatry, Abús de substàncies, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, business, Genètica, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genome-Wide Association Study
Abstract: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa (BN) and problem alcohol use (genetic correlation [rg], twin-based=0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge-eating, AN without binge-eating, and a BN factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder (MDD). Total sample sizes per phenotype ranged from ~2,400 to ~537,000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg=0.18; false discovery rate q=0.0006), cannabis initiation and AN (rg=0.23; qwith binge-eating (rg=0.27; q=0.0016). Conversely, significant negative genetic correlations were observed between three non-diagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge-eating (rgs=-0.19 to −0.23; qs
Published: 2021
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Refine your results

24 results on '"Maher B"'

1. The Self-Confidence Level of Dental Students in Alkafeel University College of Dentistry in Dental Clinical Practice Between the Fourth and Final Stage: A Comparative Study

2. Case Report: Shewanella algae, a rare cause of osteosynthesis-associated infection [version 2; peer review: 2 approved]

3. Assessment of depression symptoms among cancer patients: a cross-sectional study from a developing country

4. Factors associated with palliative care symptoms in cancer patients in Palestine

5. Dementia: Formal Care, Assistance, and Caregivers

6. Case Report: Tuberculous abscess of the popliteal fossa: A case report [version 1; peer review: 2 approved]

7. Plasma protein biomarkers for primary graft dysfunction after lung transplantation: a single-center cohort analysis

8. Schizophrenia genetic variants are not associated with intelligence

9. Genetic Relationship between Schizophrenia and Nicotine Dependence

10. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

11. Job Disengagement Among Physical Education Teachers: Insights From a Cross-sectional Web-Based Survey With Path Modeling Analysis

12. Helicobacter pylori and Egyptian infantile colic

13. Gait-speed and oxygen flow during six-minute walk test predicts mortality in patients with advanced lung disease

14. Prevalence of asymptomatic urinary abnormalities among adolescents

15. Acetabular roof stress fracture: a rare cause of hip pain in children

16. Atteinte laryngée révélatrice d'un lupus érythémateux systémique

17. Cancer pulmonaire au cours d'une thromboangéite oblitérante de Léo Buerger

18. Bloc auriculo-ventriculaire complet cortico-sensible au cours d'une maladie de Horton

19. Lymphèdème unilatéral du membre supérieur au cours d'une polyarthrite rhumatoïde

20. Lithiases rénales bilatérales et récidivantes révélant une maladie de Wilson

21. Carcinome hépatocellulaire non fibrolamellaire sur foie sain

22. Explicit and implicit emotional expression in bulimia nervosa in the acute state and after recovery.

23. Medical School Attrition-Beyond the Statistics A Ten Year Retrospective Study

24. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Catalog

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

24 results on '"Maher B"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources