Results 61 to 70 of about 39,341 (170)

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

Nephrolithiasis and risk of hypertension: a meta-analysis of observational studies

BMC Nephrology, 2017
Background Observational studies have demonstrated an association between nephrolithiasis and hypertension. The aim of this meta-analysis was to summarize all available evidence.
Weifeng Shang, Yuanyuan Li, Yali Ren, Yi Yang, Hua Li, Junwu Dong   +5 more
doaj   +1 more source

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

Obesity Reviews, Volume 27, Issue 11, November 2026.
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

Evaluation of pediatric nephrolithiasis

, 2010
Nephrolithiasis in the pediatric population is an important cause of morbidity worldwide. Presenting signs and symptoms are often considerably different from those in adults. Vague abdominal pain, hematuria, and urinary tract infection are more common in
Katherine Hubert, Caleb P Nelson, Paul J Kokorowski   +2 more
core   +1 more source

Impact of the Human Microbiome on Nephrolithiasis [PDF]

, 2021
Nephrolithiasis has many causes, and its prevalence is increasing worldwide. The interest in the human microbiome is growing because of the advance of new diagnostic techniques, and recent studies have suggested a link between the microbiome and ...
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core   +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

Oxidative Stress and Hemostatic Parameters in Patients With Nephrolithiasis Before and After Ureteroscopic Lithotripsy

Frontiers in Physiology, 2019
PurposeIn patients with nephrolithiasis, oxidative stress, especially lipid peroxidation is observed. Moreover, various invasive methods [including extracorporeal shock wave lithotripsy (ESWL)] for treatment of nephrolithiasis may induce not only the ...
Paweł Woźniak, Bogdan Kontek, Bartosz Skalski, Anna Król, Waldemar Różański, Beata Olas   +5 more
doaj   +1 more source

Multisystem Complications in Non‐Transfusion‐Dependent β‐Thalassemia Intermedia: A Case Highlighting the Need for Early Intervention

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT This case highlights that severe complications of non‐transfusion‐dependent β‐thalassemia may be preventable with appropriate monitoring and timely intervention; however, once established, multisystem complications can be challenging to treat.
Oldooz Aloosh, Seyedeh Esmat Hosseini, Mohammad Karimi   +2 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

Burkitt Lymphoma Presenting as Renal Failure: Learning From Diagnostic Pitfalls in Pediatrics

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT This case highlights that pediatric Burkitt lymphoma may present without classic systemic manifestations, instead presenting as acute renal failure secondary to peritoneal lymphomatosis. Prompt recognition of rapid progression, hyperuricemia, and obstructive uropathy, especially with initially normal blood counts, is essential to minimize ...
Anne Boldt, Khanh Mai, Adriana Dhawan, Lucie M. Turcotte, Robin Williams, Aarti Kamat   +5 more
wiley   +1 more source