Results 161 to 170 of about 113,994 (260)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Sacral neuromodulation for the treatment of idiopathic non-obstructive urinary retention: A long-term follow-up case report. [PDF]

Surg Neurol Int
Fagundes W, Dantas S, Kotochinsky M, Silva YP, Łajczak P, Maranhão ÍGO, Britto CA.   +6 more
europepmc   +1 more source

Single‐cell atlas of neuroglial dynamics in SNCA‐A53T Parkinson's disease mouse model

Animal Models and Experimental Medicine, EarlyView.
We performed single‐cell RNA sequencing of midbrain and striatal tissues from SNCA‐A53T Parkinson's disease (PD) mice, revealing glia‐enriched PD‐risk gene signatures and disease‐specific subpopulations. Transcriptional dysregulation of key TFs (e.g., Rorb, Foxc1) and enhanced neuroinflammatory signaling (SEMA, CCL, MIF) were identified.
Binqing Qin, Zichu Fu, Xuanxuan Zou, Senmao Chai, Jingjing Weng, Puqing Wang, Xiaodong Sun, Ming Sang   +7 more
wiley   +1 more source

Hyponatremia Is Associated With Urinary Retention: The Vasopressin-Dependent and -Independent Pathways. [PDF]

Cureus
Demizu R, Kenzaka T, Nishio R, Nishisaki H.   +3 more
europepmc   +1 more source

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

Animal Models and Experimental Medicine, EarlyView.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji, Maedeh Faraji, Nasrin Kazemipour   +2 more
wiley   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

Hematocolpos Presenting as Acute Urinary Retention: When Gynecologic Pathology Mimics Urologic Disease. [PDF]

Cureus
Mahmood N, Rehman A, Chishti SZ, Bibi F.
europepmc   +1 more source

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

Animal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng, Yuanjun Ji, Yan Zou, Jing Tan, Teng Wu, Conghui Shen, Tongsheng Huang, Shijie Xiong, Mengying Liu, Maoquan Yang, Jingwei Lai, Jiangwei Ma, Junhong Wan, Xinlu Fu, Jiang Qian, Hui Li, Ludong Yuan, Weibin Cai   +17 more
wiley   +1 more source

Evaluation of the nursing effect of mirabilite fomentation on postoperative edema, pain, and urinary retention in patients with mixed hemorrhoids. [PDF]

Medicine (Baltimore)
Ren Y, Liang R, Zhang R, Tian N, Wang C, Yin C, Wang X.   +6 more
europepmc   +1 more source

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia

Annals of Neurology, EarlyView.
The metabolic syndrome, a state of progressive metabolic dysfunction, injures the peripheral and central nervous systems, promoting peripheral neuropathy (PN) and cognitive impairment (CI), respectively. We posit PN and CI are connected in the metabolic syndrome framework, built on the premise that neurons, whether in the peripheral or central nervous ...
Masha G. Savelieff, David L. Bennett, Troels S. Jensen, Eva L. Feldman   +3 more
wiley   +1 more source