Results 41 to 50 of about 1,130,327 (225)

The Etiological Diagnosis of Diabetes: Still a Challenge for the Clinician

Endocrines, 2023
The etiological diagnosis of diabetes conveys many practical consequences for the care of patients, and often of their families. However, a wide heterogeneity in the phenotypes of all diabetes subtypes, including Type 1 diabetes, Type 2 diabetes, and ...
Danièle Dubois-Laforgue, José Timsit
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Approach to the Patient with MODY-Monogenic Diabetes

The Journal of Clinical Endocrinology & Metabolism, 2020
AbstractMaturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-
David T Broome, Kevin M Pantalone, Sangeeta R Kashyap, Louis H Philipson   +3 more
openaire   +3 more sources

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy

Metabolism Open, 2022
Aims: To investigate the prevalence of pathogenic variants in monogenic diabetes genes in Emirati women with gestational diabetes (GDM) and examine the risk of developing hyperglycemia during follow-up in carriers and non-carriers.
Hinda Daggag, Anette P. Gjesing, Alshafi Mohammad, Lars Ängquist, Bindu Shobi, Suma Antony, Dalia Haj, Alia Al Tikriti, Adam Buckley, Torben Hansen, Maha T. Barakat   +10 more
doaj   +1 more source

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

J Clin Endocrinol Metab
Aims: Monogenic diabetes testing in children currently targets Maturity Onset Diabetes in the Young (MODY) or recognised genetic syndromes. Objective: We aim to determine whether genetic testing for monogenic diabetes should be performed for all children
Myers R, Yildiz M, Nuri Ozbek M, Manzoor J, Ibrahim M, Yajnik C, Atar M, Şiklar Z, Acar S, Globa E, Magdy Omar O, Demirbilek H, Hassan S, Demir K, Hanif M, Guran T, Hatipoglu N, Koçyiğit C, Colclough K, Houghton J, Hattersley A, Van Heugten R, Patel K, Monogenic Diabetes Consortium.   +23 more
europepmc   +2 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.

, 2014
Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of type 2 diabetes.
Dunne, F. P., Hattersley, Andrew T., Vincent, N., Vincent, Nicola, Spyer, Gill, Dunne, Fidelma P., Chakera, Ali J., Spyer, G., Ellard, Sian   +8 more
core   +1 more source

Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients [PDF]

, 2017
This is the author accepted manuscript. The final version is available from the American Diabetes Association via the DOI in this record.Objective: Monogenic diabetes, a young-onset form of diabetes, is often misdiagnosed as Type 1 diabetes, resulting ...
Shepherd, Maggie H., Shields, Beverley M, Pearson, Ewan R.; id_orcid, Shepherd, Maggie, Hudson, M., Bridget Knight, Knight, Bridget, Ewan R. Pearson, Sian Ellard, Peters, J., Peters, Jaime, Hyde, C., Hattersley, Andrew T., Colclough, Kevin, Michelle Hudson, Timothy J. McDonald, Chris Hyde, Knight, Bridget A., Shields, Beverley M., Kevin Colclough, Hudson, Michelle M., Pearson, E. R., Maggie Shepherd, Jaime Peters, Hyde, Chris, Beverley M. Shields, Ellard, Sian, McDonald, Timothy J., Andrew T. Hattersley   +28 more
core   +1 more source

A Pilot Randomized Study of NAT2 and YEATS4 Pharmacogenetic Return of Results in Adults with Hypertension and African Ancestry: The GUARDD‐US PGx Study

Clinical Pharmacology &Therapeutics, EarlyView.
Almost half of individuals with hypertension fail to achieve recommended blood pressure (BP) goals. Pharmacogenetic gene‐drug interactions may alter the efficacy of antihypertensive agents. We conducted a multicenter randomized controlled sub‐study of participants (N = 1874) with hypertension and self‐reported African ancestry to determine whether ...
Philip E. Empey, Nita A. Limdi, Dinushika Mohottige, Kady‐Ann Steen‐Burrell, Hrishikesh Chakraborty, Khoa A. Nguyen, Alexander S. Parker, Emily J. Cicali, Girish N. Nadkarni, Michelle A. Ramos, Sabrina Clermont, Erica N. Elwood, Mimsie Robinson, Nandini Shroff, Marc B. Rosenman, Ronald Huang, Larisa H. Cavallari, Julie A. Johnson, Paul R. Dexter, Todd C. Skaar, Kerri L. Cavanaugh, Christina M. Wyatt, Carol R. Horowitz, Rhonda M. Cooper‐DeHoff, Michael T. Eadon, on behalf of the IGNITE Pragmatic Trials Network   +25 more
wiley   +1 more source

Monogenic Forms of Obesity and Diabetes Mellitus

Journal of Pediatric Endocrinology and Metabolism, 2002
Great progress has been made in identifying several genes and in understanding the molecular pathogenesis of inherited syndromes of obesity and diabetes mellitus (DM). In humans, mutations in leptin, leptin receptor, proopiomelanocortin (POMC), melanocortin-4 receptor (MC4R) and prohormone convertase 1 (PC1) have been described in patients with severe ...
Tsigos, C., Kyrou, I., Raptis, S.A.
openaire   +3 more sources