Results 101 to 110 of about 33,580 (222)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Impact of empiric potassium supplementation on mortality, sudden cardiac arrest and stroke in furosemide initiators

British Journal of Clinical Pharmacology, Volume 92, Issue 8, Page 2924-2936, August 2026.
Aim A prior non‐randomized study suggests that potassium supplementation may improve survival among furosemide initiators, and a randomized trial suggests that salt substitutes containing potassium might lower stroke risk. We conducted a retrospective cohort study using health‐care data to confirm or refute these associations among new users of ...
Thanh Phuong Pham Nguyen, Sean Hennessy, Colleen M. Brensinger, Warren B. Bilker, Laura M. Dember, Todd A. Miano, Tat‐Thang Vo, Allison W. Willis, Charles E. Leonard   +8 more
wiley   +1 more source

Delay in Diagnosis of Addison's Disease: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 8, August 2026.
Graphic highlighting the timeline of ED visits and admissions for the case patient. ABSTRACT Primary adrenal insufficiency is a rare disorder prone to delay in diagnosis after initial presentation. Multiple factors including a wide range of presentations, slow onset of symptoms, and other human factors may be contributing to challenges with the ...
Ishita Bhattacharya, Lisle Blackbourn, Manajyoti Yadav   +2 more
wiley   +1 more source

Secondary Adrenal Insufficiency Presenting With Severe Hyponatremia in an Elderly Patient With Primary Aldosteronism Suggesting Underlying Autonomous Cortisol Secretion

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Possible unrecognized cortisol autonomy in primary aldosteronism may suppress the hypothalamic–pituitary–adrenal axis. Under physiological stress, this may contribute to secondary adrenal insufficiency and severe hyponatremia. Clinicians should consider adrenal insufficiency in patients with primary aldosteronism presenting with unexplained ...
Minami Toda, Shunsuke Takahashi, Hitomi Saito, Honami Mori, Yutaka Kuroda, Akito Maeshima   +5 more
wiley   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, Volume 11, Issue 4, Page 1227-1236, August 2026.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Adrenocorticotropic hormone (ACTH).

Japanese Journal of Medicine, 1989
openaire   +4 more sources

Gut microbiota‐targeted interventions for depression in adolescents and young adults: Mechanisms, evidence strength and clinical strategies—A narrative review

General Psychiatry, Volume 39, Issue 4, August 2026.
ABSTRACT Depression in adolescents and young adults is common, associated with substantial functional impairment and characterised by limited treatment efficacy. The microbiota–gut–brain (MGB) axis has emerged as a potential therapeutic target for depression.
Hanchen Hou, Yinan Li, Wanting Tang, Yiwen Gao, Yuanyuan Tian, Fei Chen, Lige Zhang, Jushuang Zhang, Xiaoxia Xu, Yao Li, Yi Li, Qingshan Wang, Lingli Liu, Teng Teng, Hao Wu, Xinyu Zhou   +15 more
wiley   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
A novel MC4R mutation (c.185A > G) was identified in a 10‐year‐old girl with severe obesity and hyperinsulinemia. Retrospective analysis of 64 pediatric cases revealed that mutation location influences BMI, modulated by underlying disease status, demonstrating that the genotype–phenotype relationship in MC4R‐associated obesity is clinically context ...
Xin Li, Xiaotian Wang, Xin Liu, Shuping Wang, Wentao Yang   +4 more
wiley   +1 more source

ADRENOCORTICOTROPIC HORMONE

Journal of Biological Chemistry, 1943
Choh Hao Li, Herbert M. Evans, Miriam E. Simpson   +2 more
openaire   +1 more source