Results 61 to 70 of about 32,828 (188)

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis

Journal of Biochemical and Clinical Genetics, 2019
Background: Childhood nephrolithiasis cases reported worldwide has been increasing over the last decade. The majority of cases reported are related to calcium oxalate formation which results in impairment of glycine transport in the renal tubule leading ...
Maha Al Harbi, Fuad Al Mutairi
doaj   +1 more source

Genetic mutation of SLC6A20 (c.1072T > C) in a family with nephrolithiasis: A case report

Open Medicine, 2023
Nephrolithiasis is a highly prevalent disease worldwide that is associated with significant suffering, renal failure, and cost for the healthcare system. A patient with nephrolithiasis was found to have SLC6A20 variation. SLC6A20 gene in human is located
Jv Menglei, Zheng Jing, Yang Anni, Xie Wei, Zhu Weiping   +4 more
doaj   +1 more source

Effectiveness of Telehealth Low‐Carbohydrate Intervention in Preventing Chronic Kidney Disease: A Real‐World, Retrospective, Matched Cohort Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Lifestyle interventions targeting metabolic health may influence chronic kidney disease (CKD) risk, particularly among adults with type 2 diabetes and obesity. We evaluated real‐world associations between a telehealth‐delivered, individualized nutrition therapy program (VINT) and CKD incidence and progression compared with usual ...
Shaminie J. Athinarayanan, Petter Bjornstad, Priya V. Shanmugam, Thomas Weimbs, Adam J. Wolfberg, Jeff S. Volek, Jonathan Himmelfarb, Richard J. Johnson   +7 more
wiley   +1 more source

GLP‐1 Receptor Agonists and Weight Loss: A Critical Review of Mechanisms

Obesity Reviews, EarlyView.
ABSTRACT GLP‐1 receptor agonist medications have the potential to promote marked weight loss, but maximal and sustained benefit may be compromised by poor compliance and cessation of use. Development of next‐generation medications that address current obstacles to effective use and development of effective adjunct treatments will benefit from better ...
Giorgia Rutigliani, Tzu‐Wen L. Cross, Erica de Jong, Emily S. Glover, Ivan D. Mendoza, Mojisola Adisa, Keigo Tomoo, Xinyi Zhou, Richard D. Mattes   +8 more
wiley   +1 more source

Primary Hyperaldosteronism As A Risk Factor For Recurrent Nephrolithiasis

Kidney Research and Clinical Practice, 2012
Primary hyperaldosteronism typically presents as hypertension, hypokalemia, and metabolic alkalosis. Several previous reports note an association between primary hyperaldosteronism and nephrolithiasis with secondary hyperparathyroidism.
Ekamol Tantisattamo, Thomas B. Francis
doaj   +1 more source

Women in space: A review of known physiological adaptations and health perspectives

Experimental Physiology, EarlyView.
Abstract Exposure to the spaceflight environment causes adaptations in most human physiological systems, many of which are thought to affect women differently from men. Since only 11.5% of astronauts worldwide have been female, these issues are largely understudied.
Millie Hughes‐Fulford, Danielle J. Carroll, Heather C. M. Allaway, Bonnie J. Dunbar, Aenor J. Sawyer   +4 more
wiley   +1 more source

The Genetics of Nephrolithiasis [PDF]

Nephron Experimental Nephrology, 2008
Renal stone formation (nephrolithiasis) is a worldwide problem causing substantial morbidity and economic burden. The heritability of stone formation has long been recognized, and with the advent of the genomic era, we have the potential to define the underlying genetic defects.
openaire   +2 more sources

Pelvic venous disorders in women: Diagnosis and management for gynecologists

International Journal of Gynecology &Obstetrics, Volume 174, Issue 3, Page 1267-1276, September 2026.
Abstract Pelvic venous disorders (PeVD) are an underrecognized yet significant cause of chronic pelvic pain (CPP) in reproductive‐aged women, characterized by venous reflux, obstruction, or both. This clinical opinion provides a practical overview of PeVD for gynecologists, outlining its pathophysiology, common presentations, diagnostic approach, and ...
Tiffany Ni, Inbar Friedman, Jessica Smith, Brian Liu, Mary Melchior, Andrew D. Brown   +5 more
wiley   +1 more source