Results 51 to 60 of about 80,978 (300)

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

O significado prognóstico dos valores séricos do fator de crescimento do tipo insulina 1 em pacientes admitidos por descompensação aguda da cirrose [PDF]

, 2014
Dissertação (mestrado profissional) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Cuidados Intensivos e Paliativos, Florianópolis, 2014.Introdução: Níveis reduzidos do fator de crescimento do tipo ...
Colombo, Bruno da Silveira
core  

Decreased accommodation during decompensation of distance exotropia

, 2011
Objective. Disparity cues can be a major drive to accommodation via the CA/C (convergence accommodation to convergence) linkage but, on decompensation of exotropia, disparity cues are extinguished by suppression, so this drive is lost.
Patricia M Riddell, Riddell, Patricia M, Horwood, Anna M, Anna M Horwood   +3 more
core   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 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

Insulin-like growth factor 1 predicts decompensation and long-term prognosis in patients with compensated cirrhosis

Frontiers in Medicine, 2023
AimInsulin-like growth factor 1 (IGF-1), which is primarily produced in hepatocytes and is associated with liver functional reserve, plays a crucial role in the pathological condition of cirrhosis.
Chisato Saeki, Chisato Saeki, Tomoya Kanai, Tomoya Kanai, Kaoru Ueda, Masanori Nakano, Masanori Nakano, Tsunekazu Oikawa, Yuichi Torisu, Yuichi Torisu, Masayuki Saruta, Akihito Tsubota   +11 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Evaluation of liver stiffness measurement–based scores in liver transplantation recipients

Liver Transplantation, EarlyView., 2022
Abstract Combining bioclinical parameters with liver stiffness measurement (LSM) has improved the diagnostic performance of vibration‐controlled transient elastography (VCTE) for detection of advanced fibrosis in patients with chronic liver disease. However, this approach has not yet been tested in liver transplantation (LT) recipients.
Tamoore Arshad, Chandra S. Bhati, Anh T. Bui, Michael Tseng, Dylan Vainer, Austin Miller, Marie‐Claire Evans, Taseen Syed, Vaishali Patel, Michael O. Idowu, Mark Muthiah, Mohammad Shadab Siddiqui   +11 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

Management of emergency caesarean section in a patient with decompensated critical aortic stenosis

Journal of Obstetric Anaesthesia and Critical Care, 2018
Increasing numbers of congenital heart disease patients are now surviving to child bearing age. This complex patient cohort present a great challenge to the obstetric anaesthetist and multidisciplinary teams.
Andrew C Leatherbarrow
doaj   +1 more source