Results 61 to 70 of about 27,503 (244)

NEUROCHEMICAL CHANGES IN LEIGH'S DISEASE

Journal of Nutritional Science and Vitaminology, 1976
A series of children with Leigh's disease had normal hepatic pyruvate carboxylase activity, increased cerebral thiamine diphosphate, and decreased cerebral thiamine triphosphate. These thiamine esters were normal in liver. The author suggests that the histologic changes of Leigh's disease, as well as the similar changes of Wernicke's disease, could be ...
openaire   +3 more sources

Clinical and Biochemical Diagnosis in Children with Leigh Syndrome [PDF]

, 2015
Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly ...
김세훈, 이선호, 이영목, 이현주   +3 more
core  

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

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

PLoS Genetics, 2015
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss ...
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin   +37 more
doaj   +1 more source

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Leigh Disease

Iranian Journal of Child Neurology, 2013
Pls see PDF.
openaire   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

, 2022
: Background: Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only.
Rezende Filho, FM, Braga, Vinicius Lopes, Tamim, Abdullah, Bhatia, Kailash P., Raiman, J, Bernd Wissinger, Wissinger, B, Christoph Kernstock, Povoas Barsottini, Orlando Graziani, Haack, TB, José Luiz Pedroso, Pedroso, Jose Luiz, Robert W. Taylor, Horvath, Rita, Elisa Cali, Henry Houlden, Cali, Elisa, Sergeant, Kate, Vinícius Lopes Braga, Kailash P. Bhatia, Hiz, S, Magrinelli, Francesca, Cali, E, Ferraz Sallum, Juliana Maria, Østergaard, E, Shamseldin, H, Tobias B. Haack, Sallum, JMF, Flávio Moura Rezende Filho, Maha S. Zaki, Taylor, RW, Zaki, MS, Juliana Maria Ferraz Sallum, Alkuraya, Fowzan S., Kernstock, Christoph, Fowzan S. Alkuraya, Sallum, Juliana Maria Ferraz, Tamim, A, Bhatia, KP, Hoda Tomoum, Ostergaard, E, Østergaard, Elsebet, Povoas Barsottini, OG, Reza Maroofian, Kate Sergeant, Kok, Fernando, Haack, Tobias B., Tomoum, Hoda, Barsottini, Orlando Graziani Povoas, Ostergaard, Elsebet, Kok, F, Kernstock, C, Horvath, R, Karin Schäferhoff, Pedroso, JL, Barsottini, OGP, Schaeferhoff, Karin, Orlando Graziani Povoas Barsottini, Wissinger, Bernd, Maroofian, Reza, Rita Horvath, Alkuraya, FS, Maroofian, R, Julian Raiman, Schäferhoff, K, Braga, VL, Houlden, H, Fernando Kok, Rezende Filho, Flavio Moura, Raiman, Julian, Yis, U, Taylor, Robert W., Hiz, Semra, Magrinelli, F, Schaeferhoff, K, Elsebet Østergaard, Yis, Uluc, Francesca Magrinelli, Hanan Shamseldin, Ferraz Sallum, JM, Houlden, Henry, Tomoum, H, Shamseldin, Hanan, Abdullah Tamim, Sergeant, K, Uluç Yis, Semra Hiz, Zaki, Maha S., Schäferhoff, Karin   +88 more
core   +1 more source

Associations Between Microbial Depletion and Autonomic Dysregulation in Binge‐Eating Disorder

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective The interplay between the gut microbiome and autonomic nervous system remains unexplored in binge‐eating disorder (BED). We aimed to explore specific microbial alterations in BED and examine their potential association with cardiac vagal tone as a distinct bio‐behavioral phenotype.
Shuang Liang, Esben Strodl, Leanne Barron, Matthew Bambling, Luis Vitetta   +4 more
wiley   +1 more source

Hypocapnic hypothesis of Leigh disease

Medical Hypotheses, 2017
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis.
openaire   +2 more sources