Results 41 to 50 of about 490 (115)

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Gitelman’s syndrome presented with tetany: a case report

IMC Journal of Medical Science, 2012
Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’
Md. Zahid Alam, AMB Safdar, Shabnam Jahan Hoque, Rownak Jahan Tamanna, Rowsan Ara, MM Zahurul Alam Khan   +5 more
doaj  

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani, Alireza Rezapanah, Tooraj Zandbaf, Mohammad Javad Ghamari, Narges Mesbah   +4 more
wiley   +1 more source

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad   +2 more
wiley   +1 more source

Characterizing molecular and behavioral changes arising from ROMK potassium channel deficiency in the cerebellum

Frontiers in Behavioral Neuroscience
The cerebellum is critically involved in both motor coordination and affective regulation, and growing evidence suggests that cerebellar dysfunction contributes to neuropsychiatric disorders.
Jacopo Agrimi, Jacopo Agrimi, Aidan J. Dunphy, Justin C. Zhong, Wenxi Zhang, Naeem Sbaiti, Daniel R. Turner, Lucia Bernardele, D. Brian Foster, Brian O’Rourke, Nazareno Paolocci, Nazareno Paolocci, Kyriakos N. Papanicolaou   +12 more
doaj   +1 more source

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

Bilateral cochlear implantation in infantile Bartter's syndrome. [PDF]

BMJ Case Rep, 2023
Mohanraj L, Saravanam PK.
europepmc   +1 more source

A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female. [PDF]

Cureus, 2023
Albaba I, Azher S, Mehta S, Faddoul G.
europepmc   +1 more source

Correction: A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female. [PDF]

Cureus, 2023
Albaba I, Azher S, Mehta S, Faddoul G.
europepmc   +1 more source

Late‐Breaking Abstract Presentations

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