Results 31 to 40 of about 65,270 (216)

9.CORNEAL ENDOTHELIOPATHY IN PSEUDOEXFOLIATION SYNDROME

The Iraqi Journal of Medical Sciences, 2018
Background: Pseudoexfoliation syndrome is a common disorder with a wide range of ophthalmic presentation and risks. Corneal endotheliopathy is one of these presentations.
Alyaà A. Kareem, Giyath Aldeen T. Neamah   +1 more
doaj   +4 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Type II fibre atrophy and nuclear disruption in decompensated cirrhosis

JHEP Reports
Background & Aims: Loss of skeletal muscle mass is a common complication in cirrhosis that is associated with higher morbidity and mortality. Since the specific pathophysiology of cirrhosis-related muscle loss is unclear, we performed histological ...
Maryam Motamedrad, Maryam Ebadi, Norberto Sanchez-Fernandez, Alessandro Parente, Abha R. Dunichand-Hoedl, Elora Rider, Norman M. Kneteman, A.M. James Shapiro, David Bigam, Khaled Dajani, Blaire Anderson, Vickie E. Baracos, Vera Mazurak, Aldo J. Montano-Loza   +13 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Machine Learning-Based Prediction of Decompensation in Hepatitis B Virus-Related Cirrhosis

Diagnostics
Background/Objectives: Fatality of cirrhotic patients greatly increases when they progress to the decompensated state. Only a few studies to date have applied machine learning (ML) methods to predict decompensation in cirrhosis patients.
Hsueh-Chun Lin, Meng-Lun Hsieh, Meng-Yu Liu, Chin-Chi Kuo, Shwn-Huey Shieh, Ming-Shun Hsieh, Vivian Chia-Rong Hsieh   +6 more
doaj   +1 more source

Hepatic decompensation associated with an interferon-free antiviral therapy in patients with HCV-cirrhosis [PDF]

Терапевтический архив, 2018
Today, there is no complete clarity about the pathogenetic mechanisms of the hepatic decompensation in patients with HCV-cirrhosis during the course of direct-acting antiviral (DAAs) therapy. The current article describes several clinical observations of
S N Batskikh, E V Vinnitskaya, Yu G Sandler, T Yu Khaimenova   +3 more
doaj   +1 more source

Prediction and Analysis of Heart Failure Decompensation Events Based on Telemonitored Data and Artificial Intelligence Methods

Journal of Cardiovascular Development and Disease, 2023
Cardiovascular diseases are the leading cause of death globally, taking an estimated 17.9 million lives each year. Heart failure (HF) occurs when the heart is not able to pump enough blood to satisfy metabolic needs.
Jon Kerexeta, Nekane Larburu, Vanessa Escolar, Ainara Lozano-Bahamonde, Iván Macía, Andoni Beristain Iraola, Manuel Graña   +6 more
doaj   +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

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source