Results 51 to 60 of about 171,422 (307)

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

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Schematics for acidosis induction and alendronate administration.

, 2023
The illustrations shown are for the (A) control, (B) acidosis, and (C) acidosis+BPP mice.
Alix Deymier (16993460), Ruchir Trivedi (5506274), Mikayla Moody (16993457), Tannin A. Schmidt (733703)   +3 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Randomized preclinical study of machine perfusion in vascularized composite allografts

BJS (British Journal of Surgery), EarlyView., 2020
This study was designed to identify the optimum machine perfusion parameters for preservation of limbs before transplantation, and determine whether this was better than cold storage. Normothermic machine perfusion at a pressure of 70 mmHg (NMP‐70) provided superior preservation to cold storage after transplantation.
K. R. Amin, J. P. Stone, J. Kerr, A. Geraghty, L. Joseph, A. Montero‐Fernandez, J. K. Wong, J. E. Fildes   +7 more
wiley   +1 more source

Lung ultrasound score versus HACOR score as a predictor for weaning outcome in patients at high risk for extubation failure

Lung India
Background: Pulmonary complications from mechanical ventilation are a significant concern in intensive care. Reducing the duration of respiratory support is vital to minimize these risks.
M Rathish, M.K Renuka, NVSN Prasant, Baby Sailaja   +3 more
doaj   +1 more source

Acidosis and nutrition [PDF]

Kidney International, 1999
In recent years there has been increasing evidence for the deleterious effect of acidosis on a number of fundamental systems of the body including nutrition [1, 2]. Approximately 70 mmol of hydrogen ions are produced daily by the body, and to maintain acid-base balance there must be an equivalent net acid secretion by the kidney.
Louden, Johnathan D., Roberts, Russell R., Goodship, Timothy H.J.   +2 more
openaire   +2 more sources

A Micropeptide Component of the OGDH Complex Modulates ATP Production in the TCA Cycle

Advanced Science, EarlyView.
This study identified a mitochondrial micropeptide encoded by a non‐canonical open reading frame (alt‐ORF) within the CTSB gene. This micropeptide named APPM (ATP production‐promoting micropeptide) is a novel component of the OGDHc complex in the TCA cycle. APPM localizes to the inner mitochondrial membrane and directly binds to OGDH, the E1 subunit of
Xinqiang Yin, Weiyan Qi, Lifen Lin, Huilin Zheng, Guoxiang Zhao, Quan Chen, Guoqiang Shao, Yifan Wu, Jialiang Hu, Hanmei Xu   +9 more
wiley   +1 more source

Reversing Macrophage Immunometabolic Dysfunction in Prolonged Infections Via a Glutaminolysis‐Fueled Restoration‐Based Hierarchically Selective Therapeutic System

Advanced Science, EarlyView.
A hierarchically selective immunotherapeutic nanoplatform, mGls@HEV‐MTP, selectively restores macrophage immunocompetence through GLS1‐mediated restoration of glutaminolysis‐fueled anaplerosis. Concurrently, it renders Staphylococcus aureus (S. aureus) more readily recognizable to the metabolically reprogrammed macrophages, thereby facilitating ...
Weinan Yang, Zihao An, Honglu Cai, Congsun Li, Jiaxuan Zou, Wushi Cui, Wentao Chen, Tao Zhang, Shicheng Wang, Zizhan Su, Jian Xiao, Tao Sun, Bin Hu, Min Cheng, Zhongru Gou, Jianbin Xu, An Liu, Haobo Wu   +17 more
wiley   +1 more source

Risk factors for lactic acidosis and severe hyperlactataemia in HIV-1-infected adults exposed to antiretroviral therapy.

, 2007
BACKGROUND: Severe hyperlactataemia and lactic acidosis are rare serious complications of antiretroviral therapy (ART). METHODS: Lactic acidosis was defined as pH 5 mmol/l.
Lactic Acidosis International Study Group
core   +1 more source