Results 161 to 170 of about 205,415 (261)

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

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Chronic renal insufficiency and <i>Nocardia brasiliensis</i> infection: A call for heightened vigilance and multidisciplinary management. [PDF]

World J Clin Cases
Ding J, Shi DD, Tian J.
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

Chronic renal insufficiency complicated by skin infection with <i>Nocardia brasiliensis</i>: A case report. [PDF]

World J Clin Cases
Zhang SS, Lu Y, Fu WN.
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

Development and validation of a predictive model for in-hospital mortality in patients with coronary heart disease and renal insufficiency. [PDF]

Int J Cardiol Cardiovasc Risk Prev
Li Y, Cai H, Zheng W, Wang M, Huang M, Wang L, Wang D, Zhao C, Hou W, Ding H, Wang Y, Zhu H.   +11 more
europepmc   +1 more source

Age Is an Effect Modifier of Thrombectomy Benefit in a Socioeconomically Vulnerable Stroke Population

Annals of Neurology, EarlyView.
Objective Randomized trials from high‐income countries have shown that endovascular treatment (EVT) yields similar benefits in elderly and non‐elderly patients with large vessel occlusion stroke (LVOS). However, evidence from low/middle‐income countries remains scarce.
Fabricio O. Lima, Francisco José de A. Mont'Alverne, Letícia C. Rebello, Daniel G. Abud, Gisele S. Silva, Michel E. Frudit, Mário B. Wagner, Jamary Oliveira‐Filho, Diogo C. Haussen, David S. Liebeskind, Octávio M. Pontes‐Neto, Norberto A.F. Frota, Guilherme Dabus, Gabriel R. de Freitas, Adson F. de Lucena, Jeffrey L. Saver, Raul G. Nogueira, Sheila C.O. Martins, for the RESILIENT Trial Investigators   +18 more
wiley   +1 more source

Quantifying Change in Proteinuria After Acute Kidney Injury Among Patients With Chronic Kidney Disease: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study. [PDF]

Kidney Med
Kwong YD, Liu KD, Go AS, Muiru AN, McCoy IE, Weir MR, Unruh ML, Rincon-Choles H, Hamm LL, Chen J, Hsu JY, Zhang X, Hsu CY, CRIC Study Investigators.   +13 more
europepmc   +1 more source

Tunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction

Advanced NanoBiomed Research, EarlyView.
In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...
Alexander Chen, Michael B. Nguyen, Elliot Widd, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Houston Harding, Chloe Hurteau, Anika Yogi, Colin Luo, Rebecca L. Braden, Pedro Cabrales, Karen L. Christman   +14 more
wiley   +1 more source