Results 81 to 90 of about 1,062,540 (244)

Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of < 5 years in the Iranian population [PDF]

, 2019
This is the final version. Available on open access from Wiley via the DOI in this recordAim To examine the extent to which discriminatory testing using antibodies and Type 1 diabetes genetic risk score, validated in European populations, is applicable ...
P. Eshraghi, Ghaemi, N, Hattersley, AT, S. Enayati, M. M. Amoli, K. Patel, Rabbani, A, Amoli, MM, Heidari, S, Borhan-Dayani, S, Wakeling, MN, R. Vakili, Yaghootkar, H, McDonald, TJ, S. Vakili, Vakili, S, Patel, K, Vakili, R, Eshraghi, P, S. Ellard, H. Yaghootkar, M. N. Wakeling, N. Ghaemi, K. Colclough, Colclough, K, S. Heidari, F. Sayarifard, A. T. Hattersley, A. Rabbani, Enayati, S, Sayarifard, F, S. Borhan‐Dayani, T. J. McDonald, Abbasi, F, Ellard, S, F. Abbasi   +35 more
core   +1 more source

Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X‐Linked Retinoschisis: The AXIS Trial

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background This trial aimed to evaluate the efficacy of oral acetazolamide in reducing cystoid fluid collections (CFC) and improving visual function in patients with X‐linked retinoschisis (XLRS). Methods In this investigator‐initiated, single centre, open‐label, randomised controlled trial, XLRS patients aged ≥ 12 years with fovea‐involving ...
Jonathan Hensman, Hind Almushattat, Roselie M. H. Diederen, Tien‐En Tan, Peilun Dai, Coen de Vente, Daniel S. W. Ting, Maria M. van Genderen, Jeannette Ossewaarde‐van Norel, Redmer van Leeuwen, Martha J. H. Tjon‐Fo‐Sang, Clara I. Sánchez, M. Dominik Fischer, Maximilian Pfau, Jos W. R. Twisk, Camiel J. F. Boon   +15 more
wiley   +1 more source

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

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

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +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 ...
McDonald, T, Hattersley, AT, Shepherd, Maggie H., Shields, Beverley M, Shields, B, Pearson, Ewan R.; id_orcid, Shepherd, Maggie, Hudson, M., Peters, J, Pearson, E, Bridget Knight, Knight, Bridget, Ewan R. Pearson, Sian Ellard, Peters, J., Peters, Jaime, Hyde, C., Hattersley, Andrew T., Colclough, Kevin, UNITED Study Team, Michelle Hudson, Timothy J. McDonald, Chris Hyde, Colclough, K, Knight, Bridget A., Shields, Beverley M., Kevin Colclough, Knight, B, Hudson, Michelle M., Pearson, E. R., Maggie Shepherd, Jaime Peters, Hyde, C, Hyde, Chris, Hudson, M, Ellard, S, Beverley M. Shields, Ellard, Sian, Shepherd, M, McDonald, Timothy J., Andrew T. Hattersley   +40 more
core   +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

It's a game changer in terms of diabetic management’: A qualitative study of adolescents' and parents' experiences of a 6‐month trial of continuous glucose monitoring in type 2 diabetes

Diabetic Medicine, EarlyView.
Abstract Aim To qualitatively explore adolescents with type 2 diabetes (T2D) using any treatment regimen and parents of such adolescents' experiences of a 6‐month trial of continuous glucose monitoring (CGM) and its perceived barriers and facilitators.
Maheesha Fernando, Alexia S. Peña, Ashlee King, Melissa Oxlad   +3 more
wiley   +1 more source

Genomic screening for monogenic forms of diabetes [PDF]

BMC Medicine, 2018
Adult-onset, or type II diabetes mellitus (T2DM) has a complex genetic architecture, from hundreds of genes with low penetrance, common susceptibility variants (e.g., TCF7L2), to a set of more than ten genes that, when mutated, can cause a single-gene or Mendelian form of T2DM (e.g., GCK).
openaire   +3 more sources