Results 51 to 60 of about 104,239 (297)

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Leveraging Macrophage Metabolic Reprogramming for Enhanced Anti‐Tumor Immunity

Advanced Science, EarlyView.
Tumor‐associated macrophages (TAMs) are key regulators of the tumor microenvironment (TME), with their metabolic states playing a critical role in tumor progression or regression. This review summarizes current understanding of TAM metabolic plasticity alongside cutting‐edge bioengineering innovations, outlining a roadmap for transforming the ...
Zhiyun Liu, Lingyao Zeng, Xulin Gan, Yilin Zhou, Han Shen, Dan Wu, Xin Shou, Minmin Jiang, Liyun Shi   +8 more
wiley   +1 more source

Incidence and Risk Factors for Delirium among Mechanically Ventilated Patients in an African Intensive Care Setting: An Observational Multicenter Study

Critical Care Research and Practice, 2015
Aim. Delirium is common among mechanically ventilated patients in the intensive care unit (ICU). There are little data regarding delirium among mechanically ventilated patients in Africa.
Arthur Kwizera, Jane Nakibuuka, Lameck Ssemogerere, Charles Sendikadiwa, Daniel Obua, Samuel Kizito, Janat Tumukunde, Agnes Wabule, Noeline Nakasujja   +8 more
doaj   +1 more source

Self‐Amplifying Redox Cycle Triggers Ferroptosis/Cuproptosis Synergy for Enhanced Bacterial Eradication

Advanced Science, EarlyView.
This study designs a targeted nanocomposite (ct@HMCF‐Dex) that responds to acidic infection microenvironments, releasing components which amplify oxidative stress. It disrupts bacterial redox balance, chelates metals to sustain lipid peroxidation, and synergistically induces cuproptosis/ferroptosis‐like death.
Zehui Xiao, Shaolong Qiu, Jiangli Cao, Jifeng Liu, Zhiyong Song, Ting Du, Xinjun Du   +6 more
wiley   +1 more source

A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Balkan Medical Journal, 2016
Background: Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was ...
Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci   +4 more
doaj   +1 more source

Anaemia and blood transfusion in African children presenting to hospital with severe febrile illness [PDF]

, 2015
BACKGROUND: Severe anaemia in children is a leading cause of hospital admission and a major cause of mortality in sub-Saharan Africa, yet there are limited published data on blood transfusion in this vulnerable group.
Akech, SO, Babiker, AG, Crawley, J, Engoru, C, George, EC, Gibb, DM, Kiguli, S, Levin, M, Maitland, K, Mtove, G, Nyeko, R, Olupot-Olupot, P, Opoka, RO, Reyburn, H   +13 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

Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]

, 2016
A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian, Dimmock, David P., Friederich, Marisa W., Geurts, Aron M., Helbling, Daniel, Jarzembowski, Jason, Lawlor, Michael W., Meng, Hui, Van Hove, Johan L.K.   +8 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Respiratory and metabolic acidosis correction with the ADVanced Organ Support system

Intensive Care Medicine Experimental, 2019
Background The lung, the kidney, and the liver are major regulators of acid-base balance. Acidosis due to the dysfunction of one or more organs can increase mortality, especially in critically ill patients.
Aritz Perez Ruiz de Garibay, John A. Kellum, Johannes Honigschnabel, Bernhard Kreymann   +3 more
doaj   +1 more source