Results 91 to 100 of about 23,590 (248)

Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus. [PDF]

PLoS ONE, 2014
Lithium, an effective antipsychotic, induces nephrogenic diabetes insipidus (NDI) in ∼40% of patients. The decreased capacity to concentrate urine is likely due to lithium acutely disrupting the cAMP pathway and chronically reducing urea transporter (UT ...
Jae H Sim, Nathaniel J Himmel, Sara K Redd, Fadi E Pulous, Richard T Rogers, Lauren N Black, Seongun M Hong, Tobias N von Bergen, Mitsi A Blount   +8 more
doaj   +1 more source

Adipsia and hypernatraemia in a 6-month-old Staffordshire bull terrier [PDF]

, 2013
A 6-month-old female Staffordshire bull terrier cross presented to the Onderstepoort Veterinary Academic Hospital with lethargy, weakness, decreased appetite, abnormal vocalisation, twitching of the facial muscles and ears, circling, alopecia, pruritus ...
Eran Dvir, Vanessa McClure
core   +1 more source

Rescue of Epilepsy‐Associated Mutations of the Highly Conserved Glycine Residue 443 in the Human GABA Transporter 1

The FASEB Journal, Volume 39, Issue 11, 15 June 2025.
Mutations in the human GABA transporter 1 (hGAT‐1) gene impair GABA transport, leading to developmental disorders like epilepsy and autism. These mutations often disrupt protein folding. Pharmacochaperones can rescue transporter expression and function in heterologous cell lines and in Drosophila melanogaster, thus offering potential therapeutic ...
Nikita Shah, Vasylyna Kovalchuk, Rocco Zerlotti, Kim Cole, Andre Bazzone, Harald H. Sitte, Thomas Hummel, Ameya S. Kasture, Sonja Sucic   +8 more
wiley   +1 more source

Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report

Endocrinology, Diabetes & Metabolism Case Reports, 2018
Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series).
Ricardo A Macau, Tiago Nunes da Silva, Joana Rego Silva, Ana Gonçalves Ferreira, Pedro Bravo   +4 more
doaj   +1 more source

Identification and Characterization of an Activating F229V Substitution in the V2 Vasopressin Receptor in an Infant with NSIAD [PDF]

, 2012
Gain-of-function mutations in the gene encoding the V2 vasopressin receptor (V2R) cause nephrogenic syndrome of inappropriate antidiuresis. To date, reported mutations lead to the substitution of arginine 137 by either a cysteine or leucine (R137C/L ...
Abrol, Ravinder, Bichet, Daniel G., Bouvier, Michel, Carpentier, Eric, Goddard, William A., III, Greenbaum, Larry A., Rochdi, Driss   +6 more
core   +1 more source

Advanced Materials for Biological Field‐Effect Transistors (Bio‐FETs) in Precision Healthcare and Biosensing

Advanced Healthcare Materials, Volume 14, Issue 13, May 16, 2025.
This review explores how advanced materials enhance Bio‐FETs for precision healthcare and biosensing. It covers their working principles, surface functionalization, and ultra‐sensitive detection capabilities. The integration of flexible designs, AI, and IoT for real‐time monitoring is discussed, along with challenges like material reproducibility and ...
Minal Pandey, Manish Bhaiyya, Prakash Rewatkar, Jitendra B. Zalke, Nitin P. Narkhede, Hossam Haick   +5 more
wiley   +1 more source

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

Molecular Genetics & Genomic Medicine, 2019
Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). In the majority of the cases, the disease shows an X‐
R. Peces, R. Mena, C. Peces, F. Santos-Simarro, L. Fernández, Sara Afonso, P. Lapunzina, R. Selgas, J. Nevado   +8 more
semanticscholar   +1 more source

Editorial Introduction: Advancing Pediatric Endocrinology Through Multidimensional Insights

Clinical Endocrinology, Volume 103, Issue 4, Page 427-428, October 2025.
Tony Huynh
wiley   +1 more source

HNF3α Targets Nckap1l and Promotes Renal Fibrosis Following Ischemia‐Reperfusion Injury

Advanced Science, Volume 12, Issue 19, May 22, 2025.
Hepatocyte Nuclear Factor 3 alpha (HNF3α) is significantly upregulated in renal tubular epithelial cells of CKD patients and fibrotic mice. Deletion of HNF3α mitigates IRI‐induced renal fibrosis, while overexpression worsens it. HNF3α directly regulates NCK‐associated protein 1‐like (Nckap1l), whose overexpression exacerbates fibrosis.
Ling Hou, Yan Guo, Shuang Xu, Mi Bai, Weidong Cao, Yue Zhang, Zhanjun Jia, Aihua Zhang   +7 more
wiley   +1 more source

Contextualizing guidelines for the health system of Cyprus: Experiences and lessons learnt

Clinical and Public Health Guidelines, Volume 2, Issue 2, April 2025.
Abstract Background Cyprus is undergoing a major health reform with the recent establishment of the General Healthcare System (GHS). The GHS offers equal healthcare access through one primary insurer (Health Insurance Organization [HIO]) and benefits from a wide collaborative network of public and private healthcare providers.
Panayiotis Kouis, Hugh McGuire, Monika Kyriacou, Anneza Yiallourou, Anastasis Sioftanos, Ourania Kolokotroni, Haris Achilleos, Craig Grime, Pilar Pinilla‐Dominguez, Giorgos Giallouros, Christina Englezou, Contextualization group, George Athanasiou, Elias Avraam, Mary Avraamidou, Anastasios Bagourdis, Charis Charilaou, Stelios Christodoulou, Natasa Christofides, Theodoros Christophides, Vasilis Constantinidis, Dimitris Dimitriou, Stella Eleftheriadou, Christina Flourou, Savvas Frangos, Kyriakos Frantzeskou, Costas Hoplaros, Kyriakos Ioannou, Nikolaos Kadoglou, Chara Kalogirou, Vasileios Karathanos, Andreas Kostis, Andreas Kousios, Ekaterini Lambrinou, Emily Mavrokordatou, Michael Michael, Nicos Mitsides, Chrystalleni Mylonas, Georgia Orphanou, Elias Papasavvas, Doros Polydorou, Stavros Stavrou, Elena Theofanous, Despo Theodorou, Giannis Thrasyvoulou, Chryssa Tziakouri‐Shakalli, Theodora Vassiliou, Alexis Vrachimis, Panayiotis K. Yiallouros, Georgios K. Nikolopoulos   +49 more
wiley   +1 more source