Results 181 to 190 of about 129,714 (337)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Gastrointestinal Hemorrhage in CREST Syndrome: A Case Report. [PDF]

Cureus
Ravikumar J, Sai Prudhvi T.
europepmc   +1 more source

Prospective randomized trial of H. pylori eradication versus maintenance omeprazole to prevent recurrent upper gastrointestinal hemorrhage in high-risk aspirin and non-aspirin NSAID users

, 2000
Francis K.L. Chan, Joseph J.�Y. Sung, Bing Yee Suen, Justin C.Y. Wu, Vincent Leung, Moon Sing Lai, Wai K. Leung, Yui Hui, Yuk T. Lee, S. C. S. Chung   +9 more
openalex   +1 more source

Time‐ and dose‐related pathological changes in knee osteoarthritis rat model induced by monosodium iodoacetate

Animal Models and Experimental Medicine, EarlyView.
Time‐ and dose‐related pathological changes of knee osteoarthritis rat model induced by monosodium iodoacetate. Abstract Knee osteoarthritis (KOA) is a chronic degenerative disease. Monosodium iodoacetate (MIA) induction is the most commonly used therapeutic effect evaluation and mechanism of action research model; we observed a lack of standardization
Wei Pu, Qi Liu, Shuyan Xue, Siyuan Li, Nan Nan, Yang Liu, Huiqin Hao   +6 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Prediction of gastrointestinal hemorrhage in cardiology inpatients using an interpretable XGBoost model. [PDF]

Sci Rep
Li Y, Wang X, Liu X.
europepmc   +1 more source

Gastric Hyperplastic Polyp Causing Upper Gastrointestinal Hemorrhage and Severe Anemia in a Dog. [PDF]

Vet Sci, 2022
Kim K, Jun B, Han S, Kim D, Kim H, Kim H, Do S, Kim J, Kim H, Yang S.   +9 more
europepmc   +1 more source

A Case of Large Gastrointestinal Stromal Tumor of the Stomach with Intraabdominal Hemorrhage.

, 2000
Fujio Ogawa, Yoshio Kitamura, Toru Iida, Miki Adachi, Tetsuo Imamura, Kota Okinaga   +5 more
openalex   +2 more sources

Clinical risk stratification for gastrointestinal hemorrhage: still no consensus [PDF]

, 2008
Charles Wira, John Sather
openalex   +1 more source