Results 31 to 40 of about 6,146 (158)

Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

Molecular Genetics & Genomic Medicine, 2022
Background Autosomal‐recessive renal tubular dysgenesis (AR‐RTD) is a rare genetic disorder caused by defects in the renin‐angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence.
Krista M. Vincent, Afrah Alrajhi, Joanna Lazier, Brigitte Bonin, Sarah Lawrence, Gabrielle Weiler, Christine M. Armour   +6 more
doaj   +1 more source

The effect of acute swimming stress, corticosterone, dexamethasone, and fludrocortisone on anxiety-like behavior in mice

Research Results in Pharmacology
Introduction: Acute swimming stress (ASS) exerts a biphasic effect on anxiety-like behavior (ALB) in mice, inducing an enhancement and a subsequent decrease in ALB 1 h and 24 h after exposure, respectively.
Nikita V. Kudryashov, Alexander A. Gorbunov, Sergey E. Mironov, Dmitriy A. Tikhonov, Andrey A. Nedorubov, Olga Yu. Arshinova, Maria A. Simukhina, Vera N. Busol, Vladimir P. Fisenko   +8 more
doaj   +1 more source

Current Screening Strategies for the Diagnosis of Adrenal Insufficiency in Children

Pediatric Health, Medicine and Therapeutics, 2023
Sasigarn A Bowden Division of Endocrinology, Department of Pediatrics, Nationwide Children’s Hospital/The Ohio State University College of Medicine, Columbus, OH, USACorrespondence: Sasigarn A Bowden, Nationwide Children’s Hospital, Division of ...
Bowden SA
doaj  

Evaluation of thyroglobulin autoantibodies in dogs at the time of diagnosis of hypoadrenocorticism and during treatment

Veterinary Record, EarlyView.
Abstract Background Autoimmune thyroiditis (AIT) may occur more frequently in dogs with hypoadrenocorticism (HA) than previously recognised. The objective of this study was to determine the presence of thyroglobulin autoantibodies (TgAAs) in dogs with HA.
Christin Emming, Sina Strey, Ina Leiter, Reinhard Mischke, Holger Volk, Marion Schmicke, Johanna Rieder   +6 more
wiley   +1 more source

Systemic medications associate with surgically treated cataract among adults over 50 years in Finland

Acta Ophthalmologica, EarlyView.
Abstract Purpose To identify associations between systemic drugs and cataract surgery in Finland. Methods A historic cohort study based on administrative data. Endpoint event was cataract surgery. Use of drugs in question was based on redeemed prescriptions and consisted of 156 drugs.
Antti Riikonen, Jari Haukka, Tuomas Lilius, Sirpa Loukovaara   +3 more
wiley   +1 more source

Chronic urine acidification by fludrocortisone to treat infectious kidney stones

Comptes Rendus. Chimie, 2021
Chronic urinary tract infections by urease-producing bacteria may increase urine pH and promote thereby the formation of recurrent kidney stones made of highly carbonated calcium phosphate apatite and struvite, a magnesium ammonium phosphate.
Lionet, Arnaud, Roger, Camille, Biardeau, Xavier, Daudon, Michel, Letavernier, Emmanuel   +4 more
doaj   +1 more source

A case report of severe hypoaldosteronism following unilateral adrenalectomy for aldosteronoma [PDF]

Эндокринная хирургия, 2020
Primary aldosteronism is characterized by hypertension and accounts for about 10% of hypertensive patients. Hyperkalemia and renal disease post adrenalectomy has been described in the literature.
Lilit Egshatyan
doaj   +1 more source

Histopathological stratification of primary aldosteronism using the CYP11B2 size ratio: first evaluation in clinical routine

Histopathology, EarlyView.
CYP11B2 immunohistochemistry identifies aldosterone‐producing nodules and enables objective subtyping using the B2 ratio (B2R), defined as the size ratio between the largest and second‐largest CYP11B2‐positive nodules. A B2R ≥8.1 indicates classical histology with a dominant lesion and high likelihood of cure, whereas B2R <8.1 reflects non‐classical ...
Adam Stenman, Tim Nilsson, Henrik Falhammar, C. Christofer Juhlin   +3 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, Volume 105, Issue 3, Page 271-284, September 2026.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source