Results 41 to 50 of about 117,949 (253)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

An Australian longitudinal pilot study examining health determinants of cardiac outcomes 12 months post percutaneous coronary intervention [PDF]

, 2016
Background Percutaneous coronary intervention (PCI) is a very common revascularisation procedure for coronary artery disease (CAD). The purpose of this study was to evaluate cardiac outcomes, health related quality of life (HRQoL), resilience and ...
A Lerman, A Martin, A Panasewicz, AE Ajani, Andrew Newcomb, Andrew Wilson, B Aggarwal, BL Svarstad, C Jenkinson, D Lane, I Connerney, J Davies, J Ware, Jack Gutman, JC Blankenship, JJ Strik, Jo-Ann Giandinoto, John Stephenson, JS Rumsfeld, JS Rumsfeld, Karen-leigh Edward, KM Connor, L Worrall-Carter, LK Bauer, M Stramba-Badiale, NL Damen, NL Damen, R Mehran, Robert Whitbourn, S Yusuf, ZJ Wang   +30 more
core   +4 more sources

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Framework for better living with HIV in England [PDF]

, 2009
Duration: April 2007 - May 2009 Sigma Research was funded by Terrence Higgins Trust to co-ordinate the development of a framework to address the health, social care, support and information needs of people with diagnosed HIV in England.
Azad, Y, Carter, M, Crafer, E, Cregan, S, Keogh, P, Morley, C, Nkwenti, P, Nutland, W, Pebody, R, Reynolds, R, Summerside, J, Weatherburn, P   +11 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

Emergency, 2016
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi, Hossein Pakdaman, Mehran Arabahmadi, Behdad Behnam   +3 more
doaj   +1 more source

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]

, 2019
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E, Carbo, Miriam, Cerbelli, Bruna, D'Amati, Giulia, Della Monica, Paola Lilla, Falkous, Gavin, Giordano, Carla, Glasgow, Ruth I C, Hardy, Steven A, He, Langping, Morea, Veronica, Perli, Elena, Pignataro, Maria Gemma, Pisano, Annalinda, Re, Federica, Taylor, Robert W, Zacara, Elisabetta   +16 more
core   +2 more sources

MUSCLE PATHOLOGY IN LEIGH'S DISEASE [PDF]

Pediatric Research, 1974
Leigh's Encephalopathy (SNE) is still an incompletely defined CNS disorder affecting children. Recent studies of muscle in two male children, ages 7 months and 4 years (at the onset) revealed previously undescribed histological and histo-chemical changes. There were two distinctly separate populations of muscle fibers, large polygonal type I fibers and
Jerry L Simmons, Richard J Allen
openaire   +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

Hematoma Interleukin‐1 Receptor Antagonist Concentrations Predict Long‐Term Outcome in Acute Human Intracerebral Hemorrhage

Annals of Neurology, EarlyView.
Objectives The interleukin (IL)‐1, IL‐6, and C‐reactive protein (CRP) pathway is central to the immune response after intracerebral hemorrhage (ICH). We tested for associations between hematoma and plasma cytokine concentrations and patient outcomes in Minimally Invasive Surgery Plus Rt‐PA for ICH Evacuation Phase III (MISTIE III) participants ...
Adrian R. Parry‐Jones, Blessing Nyakutsikwa, Michael H. Askenase, Matthew Gittins, Mary Newland, Siobhan Crilly, Paul R. Kasher, Yvonne Davidson, Federico Roncaroli, Stuart M. Allan, Lauren H. Sansing, Wendy Ziai, Daniel F. Hanley, INFLAME‐ICH Investigators, Mark Harrigan, David Miller, Judy Huang, Wendy Ziai, Jack Jallo, Fred Rincon, Gaurav Gupta, Igor Rybinnik, Diederik Bulters, Mary Leigh Gelea, Andras Buki, Erzsebet Ezer, Hiren Patel, Adrian Parry‐Jones, Charles Matouk, Kevin Sheth / Lauren Sansing, Ali Zomorodi, Michael James, Pal Barzo, Krisztian Tanczos, Gregory Thompson, Ventatakrishna Rajajee/Aditya Pandey, Peter Nakaji, Shawn E. Wright, Walter Galicich, Thomas Bergman, Andrew Carlson, Huy Tran, Philipp Taussky, Safdar Ansari, Fuat Arikan, Marcelino Baguena, Ronald Reimer, W. David Freeman, Ania Pollack, John Terry, Geza Mezey, Katalin Szabo/Laszlo Csiba, Robert F. James, Steven J. Barrer, Larami MacKenzie   +54 more
wiley   +1 more source