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ALLMedicine™ Encephalomyopathy Center

Research & Reviews  205 results

A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy with Metabolic Complica...
https://doi.org/10.12659/AJCR.936336
The American Journal of Case Reports; Khatri V, Grayeb DE et. al.

Jun 8th, 2022 - BACKGROUND Anorexia nervosa has been referred to as the "great pretender" of medicine and is often misdiagnosed. We present a rare genetic disorder that was misdiagnosed as anorexia nervosa. This case highlights the diagnosis of mitochondrial neur...

Molecular and neurological features of MELAS syndrome in paediatric patients: A case se...
https://doi.org/10.1002/mgg3.1955
Molecular Genetics & Genomic Medicine; Seed LM, Dean A et. al.

Apr 28th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most well-known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two de...

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958798
BMC Medicine; Gautheron J, Lima L et. al.

Mar 29th, 2022 - Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2'-deoxyuridine, to thymine and uracil. Biallel...

Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
https://clinicaltrials.gov/ct2/show/NCT05255328

Mar 11th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder. The most common mutation is in the mtDNA gene MT-TL1 encoding the mitochondrial tRNALeu (UUR). For understanding t...

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Clinicaltrials.gov  1 results

Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
https://clinicaltrials.gov/ct2/show/NCT05255328

Mar 11th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder. The most common mutation is in the mtDNA gene MT-TL1 encoding the mitochondrial tRNALeu (UUR). For understanding t...

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News  4 results

VIDEO: Oocyte modification might prevent mitochondrial diseases
https://www.mdedge.com/obgyn/article/81306/neuromuscular-disorders/video-oocyte-modification-might-prevent-mitochondrial
Elizabeth Mechcatie

Apr 12th, 2014 - Clinical trials using genetically modified oocytes to prevent the transmission of mitochondrial diseases in humans may be soon become a reality. But the potentially promising approach to prevent conditions such as Leigh disease and MELAS (mitochon.

FDA panel considers human studies of modified oocytes for preventing disease
https://www.mdedge.com/obgyn/article/81307/neuromuscular-disorders/fda-panel-considers-human-studies-modified-oocytes
Elizabeth Mechcatie

Apr 12th, 2014 - GAITHERSBURG, MD. – The first human studies evaluating the use of genetically modified oocytes to prevent the transmission of mitochondrial diseases could enroll women with diseases that are the most severe, tend to present in early childhood, and.

FDA Considers Mitochondrial DNA Replacement
https://www.staging.medscape.com/viewarticle/821115

Feb 26th, 2014 - The Cellular, Tissue, and Gene Therapies Advisory Committee of the US Food and Drug Administration (FDA) met February 25 to consider the safety of human testing of mitochondrial manipulation technologies to prevent mitochondrial disease and to boo...

Ketamine may help refractory status epilepticus
https://www.mdedge.com/pediatrics/article/76230/epilepsy-seizures/ketamine-may-help-refractory-status-epilepticus
Michele G. Sullivan

Jul 11th, 2013 - MONTREAL – Intravenous ketamine resolved refractory convulsive status epilepticus in 14 of 17 cases in a small, uncontrolled prospective study. In addition to its efficacy, ketamine has a unique safety advantage over more commonly used anesthetics.

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