Results 61 to 70 of about 60,981 (252)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Type IV popliteal arterial entrapment associated with an osteochondroma

Journal of Vascular Surgery Cases and Innovative Techniques, 2017
Popliteal artery entrapment syndrome is a rare cause of peripheral vascular disease, often affecting young adults. Multiple studies have shown that osteochondromas can cause vascular injury.
Dustin D. Lucarelli, MD, Aswath Subram, MD   +1 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A rare cause of wheezing in a child with pulmonary atresia

Annals of Cardiac Anaesthesia, 2019
The determination of the exact cause for symptomatic airway obstruction in pediatric patients not responding to medication can be a clinical dilemma. Very rarely external vascular compressions can produce airway obstruction symptoms unresponsive to usual
Madan Mohan Maddali, Pranav Subbaraya Kandachar, Nishant Ram Arora, Francois Lacour-Gayet   +3 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

Animal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun, Tong Ma, Ran Chen, Lan Shen, Xun Tang, Zhiqiang Shen, Hongbin Zhao   +6 more
wiley   +1 more source

Citrus aurantium honey‐mediated gut homeostasis and anti‐inflammation via Thorl/Nprl2‐TORC1 signaling: Network pharmacology and Drosophila validation

Animal Models and Experimental Medicine, EarlyView.
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan, Ruiguang Huang, Shuqiong Cao, Luxia Pan, Wenkai Zhang, Wujun Jiang, Zhiyong Liu   +6 more
wiley   +1 more source