Results 51 to 60 of about 2,349 (166)

Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Egyptian Journal of Medical Human Genetics, 2022
Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici, Fadime Ersoy Dursun, Hasan Dursun   +2 more
doaj   +1 more source

Clinical implementation of digital cognitive assessments – recommendations from Global CEO Initiative on Alzheimer's Disease

Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.
Abstract Mild cognitive impairment and dementia are underrecognized in primary care, contributing to delayed diagnosis and limited access to care. Growing research has focused on improving cognitive evaluation in primary care, including the development of digital cognitive assessments (DCAs), which are emerging as scalable tools to expand access to ...
Pierre N. Tariot, Darren R. Gitelman, Ishtar Govia, Katherine A. Partrick, Emily Scholler, Melissa Petersen, the CEOi Digital Cognitive Assessment Workgroup   +6 more
wiley   +1 more source

Clinical and Genetic Study of a Pseudo‐Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1‐Associated Family Reported in Chinese Population

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo, Ping Li, Gaoli Jiang, Weicheng Chen   +3 more
wiley   +1 more source

Detection of renal tubular transporter proteins in canine urinary extracellular vesicles using liquid chromatography–tandem mass spectrometry

Veterinary Clinical Pathology, Volume 55, Issue 2, Page 172-177, June 2026.
Abstract Urinary extracellular vesicles (UEVs) are membranous particles that carry renal tubular transporter proteins. Here, we evaluate whether selected renal tubular transporter proteins can be detected in UEVs isolated from small volume (1–5 mL) canine urine samples of healthy dogs and canine patients with elevated circulating parathyroid hormone ...
L. J. McGravey, P. R. Antrobus, T. L. Williams   +2 more
wiley   +1 more source

Two Brothers from Macedonia with Gitelman Syndrome

Balkan Journal of Medical Genetics, 2023
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene.
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D   +8 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Hypertension in a patient with Gitelman's syndrome [PDF]

Journal of Human Hypertension, 2004
Gitelman's syndrome is an autosomal recessive disorder characterized by sodium wasting and hypotension. A middle-aged woman was diagnosed with Gitelman's syndrome because of typical clinical manifestations in the youth and homozygous mutations of 18-base-pair insertion in exon 6 of thiazide-sensitive NaCl-cotransporter gene.
T, Ogihara, T, Katsuya, K, Ishikawa, A, Matsuo, H, Rakugi, M, Shoji, M, Yasujima   +6 more
openaire   +2 more sources

The kidney and the balance of sulfur and nitrogen as fundamental components of pH homeostasis

Physiological Reports, Volume 14, Issue 10, May 2026.
Biochemical processes involved in ammoniagenesis and regulation of pH homeostasis. Abstract The homeostasis of blood and tissue pH is fundamental for life, and pH imbalances may lead to coma and death. The regulation of the acid–base balance involves primarily the lungs and kidneys, and is strictly integrated via the endocrine and nervous systems ...
Vincenzo Graziano, Antonio Angeloni, Paolo Mené, Andrea Bellelli   +3 more
wiley   +1 more source

A successful pregnancy for a young hypothyroid woman with Gitelman Syndrome: A rare case study report

Caspian Journal of Reproductive Medicine, 2016
It is widely assumed that Gitelman syndrome is a rare genetic disorder with such electrolyte imbalance as hypokalemia and hypomagnesaemia. The impact of hypothyroidism on Gitelman syndrome and its management is not clear.
Zahra Kashi, Adele Bahar, Ozra Akha
doaj  

Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report

Journal of Medical Case Reports, 2012
Introduction Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia ...
Raza Farhan, Sultan Mubashar, Qamar Khola, Jawad Ali, Jawa Ali   +4 more
doaj   +1 more source