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Articolul urmator |
880 7 |
Ultima descărcare din IBN: 2022-12-05 15:19 |
SM ISO690:2012 CHELE, Ecaterina, JELIHOVSCHI, Angela, BUBUCEA, Rodica. Particularităţi de diagnostic ale encefalopatiilor mitocondriale. In: Analele Ştiinţifice ale USMF „N. Testemiţanu”, 2011, nr. 5(12), pp. 349-356. ISSN 1857-1719. |
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Analele Ştiinţifice ale USMF „N. Testemiţanu” | ||||||
Numărul 5(12) / 2011 / ISSN 1857-1719 | ||||||
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Pag. 349-356 | ||||||
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Rezumat | ||||||
Diagnosis aspects of the mitochondrial encephalopathies
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
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. |
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