Results 81 to 90 of about 1,130,327 (225)

Identification of an p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family

Clinical Medicine Insights: Case Reports, 2019
The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease.
Nikolai Paul Pace, Christopher Rizzo, Alexia Abela, Mark Gruppetta, Stephen Fava, Alex Felice, Josanne Vassallo   +6 more
doaj   +1 more source

Maturity onset diabetes of the young: Diagnosis and treatment options

Russian Open Medical Journal, 2016
Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer ...
Serghei Covanțev, Andrian Chiriac, Ludmila Perciuleac, Vladlena Zozina   +3 more
doaj   +1 more source

Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

Journal of Diabetes Investigation, 2022
Hyperglycemia caused by mutations in the glucokinase gene, GCK, is the most common form of monogenic diabetes. Prenatal diagnosis is important, as it impacts on treatment.
Thierry Nouspikel, Jean‐Louis Blouin, Jardena J Puder, Bettina Köhler Ballan, Valerie M Schwitzgebel   +4 more
doaj   +1 more source

Human iPSC‐Derived Vascularised Lung Organoids for Modelling COPD and Pulmonary Hypertension

Cell Proliferation, EarlyView.
Vascularised lung organoids (vLOs) that faithfully mimic human lung tissue architecture and disease pathology are critical for advancing pulmonary research but remain challenging to generate. Here, we developed a robust self‐organisation protocol to produce vLOs with cellular heterogeneity and functional vasculature. The engineered blood vessels within
Simin Jiang, Liangliang Tian, Jingge Qu, Yi Hong, Dian Chen, Zihang Pan, Huanyu Long, Lanhe Chu, Weijing Kong, Qiyang Yao, Xiaojing Ma, Yun Zhao, Baihui Ma, Kai Wang, Yahong Chen   +14 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. [PDF]

, 2016
Monogenic diabetes accounts for approximately 1-2% of all diabetes, and is difficult to distinguish from type 1 and type 2 diabetes. Molecular diagnosis is important, as the molecular subtype directs appropriate treatment.
Carroll, P., Kariyawasam, D., Brackenridge, A., Colclough, Kevin, Kidd, J., Thomas, E. R., Ellard, Sian   +6 more
core   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

PLoS ONE, 2019
ObjectiveMonogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and influences genetic counseling.
Inés Urrutia, Rosa Martínez, Itxaso Rica, Idoia Martínez de LaPiscina, Alejandro García-Castaño, Anibal Aguayo, Begoña Calvo, Luis Castaño, Spanish Pediatric Diabetes Collaborative Group   +8 more
doaj   +1 more source

The DePICtion study: Implementing a diabetes classification tool in UK primary care—A qualitative study with primary care staff and patients

Diabetic Medicine, EarlyView.
Abstract Background The correct classification of diabetes (type 1, type 2 or rarer genetic forms) is essential for optimal treatment, but misclassification is common. The Diabetes in Primary Care Improving Classification (DePICtion) tool uses routinely collected clinical data to flag patients at risk of misclassification and prioritise them for ...
Charlotte Lee, Maddy Geen, Clare Timblin, Anita Hill, Katherine Young, Robin Humphreys, Angus Jones, Maggie Shepherd, Andrew T. Hattersley, Nadeem Qureshi, Beverley M. Shields, Katrina Turner   +11 more
wiley   +1 more source