Results 61 to 70 of about 3,390 (167)

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
Edward S. A. van Beelen, Wouter H. van der Valk, John C. M. J. de Groot, Peter Paul G. van Benthem, Heiko Locher   +4 more
wiley   +1 more source

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

Case Reports in Genetics
Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities.
David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia   +4 more
doaj   +1 more source

Late‐Breaking Abstract Presentations

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Anaesthesia for laparoscopic cholecystectomy in Bartter′s syndrome

Indian Journal of Anaesthesia, 2010
Bartter′s syndrome is a rare inherited anamoly with defect in the thick segment of the ascending limb of the loop of Henle, with reduced reabsorption of potassium.
Bala S Bhaskar, G V Rao, Sanjeev B Joshi, S K Arun, S K Ajay   +4 more
doaj   +1 more source

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BMC Pediatrics
Background Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and
Jhao-Jhuang Ding, Shih-Hua Lin, Tai-Wei Wu, Min-Hua Tseng   +3 more
doaj   +1 more source

Chemotherapy-induced tubulopathy: a case report series

Frontiers in Nephrology
Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella   +6 more
doaj   +1 more source

Gangguan Pendengaran pada Anak dengan Sindrom Bartter

Sari Pediatri
Latar belakang. Sindrom Bartter merupakan gangguan tubulus ginjal ditandai dengan hiperaldosteronisme sekunder, alkalosis metabolik hipokalemia, disertai tekanan darah yang normal atau rendah.
Muyassaroh Muyassaroh, Santo Mudha Pratomo, Heru Muryawan   +2 more
doaj   +1 more source

Captopril and Bartter’s Syndrome [PDF]

Nephron, 2008
H, Sasaki, M, Okumura, T, Kawasaki
openaire   +2 more sources

Comorbid Gitelman Syndrome and Schizophrenia: A Case Report [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2006
In this report, a 28 year old schizophrenic patient who had Gitelman syndrome comorbidity is presented and the differential diagnosis is discussed. Gitelman syndrome is, defined as an autosomal recessive disorder featuring hypokalemic metabolic alkalosis,
Huriye Gümüş, Cem İlnem, Ferhan Yener   +2 more
doaj  

Bartter Syndrome Type І: A Case Report

Turkish Journal of Nephrology, 2019
Salt-losing tubulopathies with secondary hyperaldosteronism are genetic disorders that involve the thick ascending limb of Henle’s loop and the distal convoluted tubule.
Çağla Serpil DOĞAN, Salih KALAY, Arife USLU GÖKÇEOĞLU, Osman ÖZTEKİN, Mustafa KOYUN, Nihal OYGÜR, Sema AKMAN   +6 more
doaj