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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/4684
Title: Particularităţi de diagnostic ale encefalopatiilor mitocondriale
Other Titles: Diagnosis aspects of the mitochondrial encephalopathies
Authors: Chele, Ecaterina
Bubucea, Rodica
Jelihovschi, Angela
Issue Date: 2011
Publisher: CEP Medicina
Citation: CHELE, Ecaterina, BUBUCEA, Rodica, JELIHOVSCHI, Angela. Particularităţi de diagnostic ale encefalopatiilor mitocondriale. In: Anale ştiinţifice ale USMF “Nicolae Testemiţanu”. Ed. a 12-a. Chişinau: СEP Medicina, 2011, vol. 5: Probleme actuale ale sănătăţii mamei si copilului, pp.349-356.
Abstract: In this study, we will try to realize an algoritm of diagnostic starting from an patient with susceptibility of MELAS. In the young patient with multiple stroke-like episodes in different vascular territories and neuroradiologic features of transient abnormalities in 350 varying regions, seizures, neuromuscular deficit, short stature, gastrointestinal, ophthalmologycal affectation, laboratory testing for MELAS must be performed. The presence of ragged red fibers in skeletal muscle and biochemical demonstration of defects in mitochondrial respiratory enzymes strongly support the diagnosis. Molecular genetic testing for abnormalities in mitochondrial DNA will confirm the diagnosis. Genetic counseling should be provided to patients with MELAS associated with mitochondrial DNA point mutations. În această lucrare s-a realizat un algoritm de diagnostic pornind de la un caz la care am ridicat suspiciunea unui sindrom MELAS. S-a constatat că la pacienţii tineri cu multiple episoade de accident vascular cerebral, în teritorii vasculare diferite, precum şi modificări radioimagistice caracteristice, crize convulsive, deficit motor, hipostatură, afecţiuni gastrointestinale, cardiace, oftalmologice, trebuie iniţiate testele de laborator în vederea unui sindrom MELAS. Prezenţa fibrelor roşii înmuşchiul scheletic şi determinările biochimice caracteristice defectelor mitocondriale susţin diagnosticul.Testele genetice moleculare privind modificările ADN-ului mitocondrial vor confirma diagnosticul.Trebuie acordat sfatul genetic atunci când există certitudine a unor mutaţii în ADN-ul mitocondrial.
URI: http://repository.usmf.md/handle/20.500.12710/4684
Appears in Collections:Neuropediatrie

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