Results 91 to 100 of about 1,062,540 (244)

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

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real‐Life Experience From a National Reference Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim Lipodystrophy syndromes are rare diseases with metabolic and cardiovascular consequences. This study explores the metabolic and renal effects of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with genetic lipodystrophy. Patients and Methods Patients with familial partial lipodystrophy (n = 57) or congenital generalised ...
Léna Robert, Ines Belalem, Corinne Vigouroux, Hippolyte Dupuis, Marie Christine Vantyghem, Mathilde Simonson, Estelle Nobecourt, Héléna Mosbah, Sophie Beliard, Stéphanie Jellimann, Sonja Janmaat, Camille Vatier, Sophie Lamothe   +12 more
wiley   +1 more source

Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes

Endocrine Journal
Monogenic diabetes arises from pathogenic variants in a single gene that are sufficient to cause disease predisposition. In general, a greater functional impact of genetic abnormalities is associated with an earlier age of onset.
Yukio Horikawa, Yoshihiro Takahashi, Kazuyoshi Hosomichi   +2 more
doaj   +1 more source

Quality standards for diabetes care toolkit 2014 [PDF]

, 2014
Provides resources and information to support service planning and delivery regarding diabetes care. Introduction Diabetes mellitus is a long term complex metabolic disorder characterised by high levels of blood glucose and caused by defects in insulin ...

core  

Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes [PDF]

, 2016
Published onlineThis is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.th T1D centile) was indicative of T1D (94% specificity, 50% sensitivity).
Oram, Richard A., De Franco, E, Hattersley, AT, Hattersley, Andrew T., Colclough, Kevin, Weedon, MN, Colclough, K, Flanagan, SE, Weedon, M. N., Flanagan, Sarah, De Franco, Elisa, Shepherd, Maggie, Patel, Kashyap, Oram, RA, Patel, KA, Ellard, S, Ellard, Sian, Shepherd, M   +17 more
core   +1 more source

Multi‐Dimensional Barriers for Work Productivity and Possible Solutions to Overcome Presenteeism in Young‐Onset Diabetes: A Mixed‐Methods Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Young‐onset non‐type 1 diabetes (YOD, age‐at‐diagnosis ≤ 40) is associated with poor physical and mental health, presenteeism and productivity loss. We examined patient‐perceived barriers to work productivity and key enablers to reduce presenteeism. Materials and Methods In this mixed‐methods study, we utilized validated questionnaires to
Kelly T. C. Wong, Jason D. C. Yin, Sunny C. S. Chan, Nga Sze Wong, Chun‐Kwan O, Yiming Dai, Yuzheng Zhang, Marques S.N. Ng, Risa Ozaki, Ronald C. W. Ma, Alice P. S. Kong, Andrea O. Y. Luk, Elaine Y.K. Chow, Juliana C. N. Chan, Juliana N. M. Lui   +14 more
wiley   +1 more source

Increasing Trends in Hospitalisation With Diabetic Ketoacidosis at Type 1 Diabetes Diagnosis Among Children and Youth in the United States and England, 2002–2020

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background There is a paucity of population‐level data evaluating trends in the proportion of children and youth hospitalised with diabetic ketoacidosis (DKA) at the time of Type 1 diabetes (T1D) diagnosis. Methods National Medicaid (US publicly insured claims), MarketScan (US commercially insured claims) and Clinical Practice Research ...
Chintan V. Dave, Kristen Lloyd, Abner Nyandege, Jason Roy, Raquel López‐Díez, Sally Radovick, Brian L. Strom   +6 more
wiley   +1 more source

Sleep patterns in adults and children with less common forms of diabetes

Frontiers in Endocrinology
ObjectiveTo review the current evidence on sleep patterns in relation to glucose control in adults and children with type 1 diabetes (T1DM) and monogenic diabetes.MethodsWe searched for the literature pertaining to T1DM and monogenic diabetes with ...
Marilyn Arosemena, Marilyn Arosemena, Maria V. Salguero, Siri Atma W. Greeley, Rochelle N. Naylor, Esra Tasali, Louis H. Philipson, Louis H. Philipson   +7 more
doaj   +1 more source

Roles of Bcl-3 in the pathogenesis of murine type 1 diabetes [PDF]

, 2010
OBJECTIVE: It has long been recognized that autoimmunity is often associated with immunodeficiency. The mechanism underlying this paradox is not well understood.
Ruaidhri J. Carmody, Shi-Jun Zheng, Scott Palmer, Palmer, S., Ruan, Q., Chen, Y.H., Carmody, R.J., Youhai H. Chen, Zheng, S.-J., Qingguo Ruan   +9 more
core   +1 more source