Results 141 to 150 of about 5,374 (184)

Adrenal insufficiency in a child with MELAS syndrome [PDF]

Brain and Development, 2014
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype.
Afroze, Bushra, Amjad, Nida, Ibrahim, Shahnaz, Humayun, Khadija Nuzhat, Yakob, Yusnita   +4 more
openaire   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Cochlear implantation in patients with MELAS syndrome

European Archives of Oto-Rhino-Laryngology, 2004
MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL) that is genetic in origin. Mitochondrial cytopathies can present with a variety of symptoms,

exaly   +4 more sources

MELAS syndrome [PDF]

Neurology, 1988
Severe prolonged migrainous symptoms and prolonged partial status epilepticus are characteristic features of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this ...
Montagna, P, Gallassi, R, Medori, R, Govoni, E, Zeviani, M, Di Mauro, S, Lugaresi, E, Andermann, F   +7 more
openaire   +3 more sources

Clinical case of MELAS syndrom

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2022
Clinical case of mitochondrial encephalomyopathy manifested with lactic acidosis and stroke-like episodes was presented. The patient diagnosis was performed in childhood, based on clinical manifestation, and was confirmed with molecular genetic test (mutation m.3243A>G in gene MT-TL1 was revealed). Appropriate patient management required united efforts
V.V. Goldobin, E.G. Klocheva, M.Yu. Afanasyeva, N.M. Tertyshnaya   +3 more
openaire   +2 more sources

Melas syndrome

The Indian Journal of Pediatrics, 1999
An 11 year old male presented with headache, vomiting and weakness of right side of body. One day after admission he developed right focal seizures. He had 5 previous episodes of stroke, the first at 11 months age. His milestones were normal upto the first episode but subsequent mile stones were delayed.
S K, Singh, D, Sarin, J M, Puliyel, R, Srivastav, R, Gupta, N, Kumar, A, Mathews   +6 more
openaire   +2 more sources

In the heart of MELAS syndrome

International Journal of Cardiology, 2016
no ...
Finsterer, Josef, Zarrouk-Mahjoub, Sinda
openaire   +3 more sources

Immunonutrition for the acute treatment of MELAS syndrome

Endocrinología, Diabetes y Nutrición (English ed.), 2022
MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes) is one of the most frequent mitochondrial pathologies. Its diagnosis is based on the classic triad of symptoms its acronym stands for and the presence of ragged red fibres.
Elizabeth, Pérez-Cruz, Carolina, González-Rivera, Luz Del Carmen Gabriela, Valencia-Olvera   +2 more
openaire   +2 more sources

Ophthalmologic Manifestations in MELAS Syndrome

Archives of Neurology, 1993
We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13.
W, Fang, C C, Huang, C C, Lee, S Y, Cheng, C Y, Pang, Y H, Wei   +5 more
openaire   +2 more sources

Syndrome MELAS atypique

Pratique Neurologique - FMC, 2012
Resume Une patiente de 63 ans qui presentait depuis une quinzaine d’annees un diabete non insulinodependant et une surdite de perception, developpa des troubles de l’equilibre et du comportement. L’IRM cerebrale montra des calcifications bilaterales des noyaux gris ainsi que la presence de multiples hypersignaux de la substance blanche ...
M.-C. Fleury, B. Lannes, A. Echaniz Laguna, B. Mousson de Camaret, C. Tranchant   +4 more
openaire   +1 more source

Resistance to cisatracurium in a patient with MELAS syndrome

Pediatric Anesthesia, 2005
SummaryThere are conflicting reports on the response of mitochondrial myopathy patients to the neuromuscular blocking drugs, showing either normal response or marked sensitivity. We present a patient with MELAS syndrome who underwent Nissen fundoplication and gastrojejunostomy. Marked resistance to the nondepolarizing muscle relaxant, cisatracurium was
Marie T, Aouad, Frederic J, Gerges, Anis S, Baraka   +2 more
openaire   +2 more sources