Results 51 to 60 of about 4,888 (207)

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

open access: yesThe 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   +8 more
wiley   +1 more source

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

open access: yesAdvanced 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   +5 more
wiley   +1 more source

About Insipidus Syndrome in Pediatric Practice

open access: yesZdorovʹe Rebenka, 2013
В статье приведены данные об этиологии, патогенезе, клинике и дифференциальной диагностике инсипидарного синдрома, а также описан случай собственного клинического наблюдения нефрогенного несахарного диабета у мальчика 17 лет.
M.S. Ostropolets   +2 more
doaj   +1 more source

Editorial Introduction: Advancing Pediatric Endocrinology Through Multidimensional Insights

open access: yes
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

open access: yesAdvanced 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   +7 more
wiley   +1 more source

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

open access: yesClinical 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   +49 more
wiley   +1 more source

Kidney function decline improves after lithium discontinuation

open access: yesJournal of Internal Medicine, Volume 297, Issue 3, Page 289-299, March 2025.
Abstract Background Long‐term lithium treatment decreases kidney function. However, it remains unclear whether stopping lithium improves kidney function. Objectives To study kidney function in patients who stopped and subsequently restarted lithium treatment. Methods Mirror‐image design using data from the LiSIE retrospective cohort study.
Filip Fransson   +4 more
wiley   +1 more source

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care, despite current financial, and laboratory constraints.
Azka Noor   +3 more
wiley   +1 more source

Serum Antidiuretic Hormone Level in Nocturnal Enuretic School Children in a Tertiary Care Hospital in Bangladesh: A Cross‐Sectional Study

open access: yesHealth Science Reports, Volume 8, Issue 1, January 2025.
ABSTRACT Background and Aims Primary nocturnal enuresis (PNE) is a common pediatric condition characterized by involuntary nighttime bed wetting. Primary monosymptomatic nocturnal enuresis (PMNE) is associated with altered antidiuretic hormone (ADH) secretion and lacks lower urinary tract symptoms.
Jannatul Fardous   +11 more
wiley   +1 more source

Orally administered prednisolone decreases plasma arginine vasopressin and serum copeptin concentrations in healthy dogs

open access: yesJournal of Veterinary Internal Medicine, Volume 39, Issue 1, January/February 2025.
Abstract Background The pathophysiology of polyuria and polydipsia secondary to exogenous glucocorticoid excess is incompletely understood. Objective Investigate plasma AVP (pAVP) and serum CoP (sCoP) concentrations in healthy dogs before, during, and after abrupt discontinuation of a long‐term course of orally administered prednisolone.
Mathieu Victor Paulin   +3 more
wiley   +1 more source

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