Results 21 to 30 of about 23,263 (212)

Case Report: Identification of a HNF1A exons 1–10 heterozygous deletion in a Chinese MODY family [PDF]

Frontiers in Endocrinology
BackgroundMaturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes, with HNF1A-MODY (MODY3) being a common subtype. Standard genetic testing for MODY often focuses on sequencing, which can lead to the misdiagnosis of cases ...
Mengyun Lei, Mei Xue, Huawei Wang, Zhe Dai, Jun Tang   +4 more
doaj   +2 more sources

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

Heterogeneidad fenotípica en el diagnóstico de MODY. Una aproximación basada en la evidencia para el diagnóstico clínico

Revista Científica CMDLT, 2022
Hasta la fecha se reconocen 14 genes relacionados con MODY, sin embargo, es bien conocido la variabilidad epidemiológica con respecto a la Diabetes de inicio en la madurez de la juventud (MODY) que actualmente, se refiere a un grupo heterogéneo de ...
Fernando Carrera, Gestne Aure, Paul Camperos, María Inés Silva de Casanova   +3 more
doaj   +5 more sources

The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Clinical Diabetes and Endocrinology, 2020
Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus.
Ken Munene Nkonge, Dennis Karani Nkonge, Teresa Njeri Nkonge   +2 more
doaj   +1 more source

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

BMC Medical Genetics, 2018
Background Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management.
Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson   +25 more
doaj   +1 more source

GCK‐MODY、HNF1A‐MODY和2型糖尿病的基础辅助检查的见解:一项系统回顾和meta分析

Journal of Diabetes, 2023
Background Glucokinase maturity‐onset diabetes of the young (GCK‐MODY) is difficult to distinguish from other diabetic forms. This article aims to characterize the differences in results from routine examinations between GCK‐MODY and hepatocyte nuclear ...
Jing Liu, Xinhua Xiao, Qian Zhang, Miao Yu   +3 more
doaj   +1 more source

Copy number variation in MODY diabetes - Familial case presentation

Genetics & Applications, 2018
MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion.
Naida Lojo-Kadric, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, Lejla Pojskic   +4 more
doaj   +3 more sources

GCK-MODY diabetes course in persons over 18 years of age: prospective observation

Сахарный диабет, 2021
Most young patients with hyperglycemia have type 1 diabetes and type 2 diabetes but up to 10% of all cases of the disease occur in MODY (Maturity Onset Diabetes of the Young).
A. K. Ovsyannikova, E. V. Shakhtshneider, D. E. Ivanoshchuk, M. I. Voevoda, O. D. Rymar   +4 more
doaj   +1 more source

Prevalence and clinical profile of maturity onset diabetes of the young among people with diabetes attending a tertiary care centre

Indian Journal of Endocrinology and Metabolism, 2022
Background: Maturity onset diabetes of young (MODY) is considered to be the most underdiagnosed condition. The correct diagnosis of MODY has a definite bearing on the outcome and clinical course of the disease.
Javaid Ahmad Bhat, Moomin Hussain Bhat, Shariq Rashid Masoodi, Hilal Ahmad, Peerzada Ovais Ahmad, Bisma Rashid Wangnoo, Mir Iftikhar Bashir, Arshad Iqbal Wani, Raiz Ahmad Misgar, Imtiyaz Rashid, Bashir Ahmad Ganai, Kamran Nissar, Zafar Amin Shah   +12 more
doaj   +1 more source

MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore

Journal of Investigative Medicine High Impact Case Reports, 2022
From our monogenic diabetes registry set-up at a secondary-care diabetes center, we identified a nontrivial subpopulation (~15%) of maturity-onset diabetes of the young (MODY) among people with young-onset diabetes.
Clara Si Hua Tan MSc, Su Fen Ang PhD, Ester Yeoh MBBS, MRCP, M.Med, FAMS, FRCP, Bing Xing Goh MBBS, Wann Jia Loh MBBS, MRCP, M.Med, Cheuk Fan Shum MBBS, MRCSEd, M.Med (Surgery), FAMS, Molly May Ping Eng MB, BCh, BAO, MRCS, FRCSI, Allen Yan Lun Liu MBChB, MRCP, Lovynn Wan Ting Chan BSc, Li Xian Goh Dip, Tavintharan Subramaniam MBBS, MRCP, FRCP, FAM, Chee Fang Sum MBBS, FRCP, FACE, FAMS, Su Chi Lim MBBS, MRCP, FRCP, FAMS, PhD   +12 more
doaj   +1 more source