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Arq Neuropsiquiatr 2009;67(2-A)

366

Theses

Method: We prospectively selected 36 patients infect-ed with the HTLV-1 virus. The diagnosis for depression was performed according to DSM-IV criteria. In all of the de-pressed patients, we applied the Hamilton scale (HAM-D 21 items) in order to quantify the disease. The mini men-tal health exam was used to exclude patients with cogni-tive deiciencies.

Results: Ten participants (28%) were suffering from de-pression, wherein nine were female and one was male. Moderate or severe depression was observed with greater frequency in patients with HAM/TSP (20.0%) when com-pared with asymptomatic patients (7.7%). Seventy-seven

percent (number=22) presented at least one symptom of depression. The most prevalent symptoms consisted of sleep disturbances, changes in appetite and anhedonia.

Conclusion: This study indicates that there is a higher prevalence of depression among patients infected with the HTLV-I virus as compared to the general population of hospitalized patients. The authors emphasize the impor-tance of further investigating symptoms of depression in patients infected with HTLV-I, considering the loss of so-cial and professional function that occurs in these cases.

Key words: human T-lymphotropic virus 1, major depres-sion, asymptomatic and HAM/TSP HTLV-1.

*Estudo da frequência do episódio depressivo maior em pacientes portadores do vírus HTLV-I. Dissertação de Mestrado, Universidade Federal do Estado do Rio de Janeiro(UNIRIO), (Área: Neurologia). Orientador: Marzia Puccioni-Sohler.

**Address: Rua Francisca Sales 397 / bl 2 / 204 - 22760-000 Rio de Janeiro RJ - Brasil (E-mail: [email protected]).

MELAS: CLINICAL, BIOCHEMISTRY, ELECTROPHYSIOLOGICAL, MORPHOLOGICAL AND MOLECULAR STUDIES (ABSTRACT)*. DISSERTATION. CURITIBA, 2008.

PAULO JOSÉ LORENzONI**

Introduction: MELAS is one of mitochondrial disease characterized by mitochondrial myopathy, encephalop-athy, lactic acidosis, and stroke-like episodes.

Objective: To analyze patients suffering from of MELAS at Clinical Hospital of Federal University of Paraná: clin-ical, laboratorial, biochemistry and histological indings; mitochondrial DNA (mtDNA) mutations in tRNALeu(UUR)

gene; and to compare muscle biopsy and molecular anal-ysis of tRNALeu(UUR) gene as diagnostic method to MELAS

syndrome.

Method: Study of 9 patients with MELAS with correla-tion between clinical indings, laboratorial data, biochem-ical, radiological and electrophysiological indings. Mus-cle biopsies were evaluated mainly by modiied Gomori-trichrome (MGT), succinate dehydrogenase (SDH) and cy-tochrome c oxidase (COX) stains. DNAmt was obtained from muscle biopsy specimen. The tRNALeu(UUR) gene was

analyzed by PCR/RLFP and direct sequencing.

Results: The onset was before age 15 years in 6 patients. Stroke-like episodes was present in all patients and the others symptoms reported were vomiting, headache, sei-zures, weakness, dementia, hearing loss, short stature, oc-ular symptoms, ataxia and facial neuropathy. Blood lac-tate levels was increased in 8 patients. Brain image study reveals stroke-like pattern in all patients with

unilater-al lesion in 5 patients and bilaterunilater-al in 4 patients. Ragged-red ibers (RRF) occurRagged-red in MGT (88.8%) and SDH (100%) stains, but the frequency above 2% of RRF was found in 5 patients on MGT stain and in 8 patients on SDH stain. COX stain analysis showed deicient activity one patient. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in 5 patients which frequency ranged from 33.3% to 75% in these cases. The molecular analysis was possible in 6 patients that showed A3243G mutation on mtDNA in 3 patients.

Conclusion: MELAS patients have variations in their clin-ical manifestation, but the main dysfunctions of MELAS syndrome, as encephalopathy, stroke-like, headache, vom-iting and increased lactate levels can be found in all pa-tients. Stroke-like lesions are more common in tempo-ral, occipital and parietal regions. COX deficiency can occur in MELAS patients. RRF presence was increased in SDH than in MGT stain. Absent SSV in muscle biop-sy specimens should not be used as exclusion criteria for MELAS. A3243G point mutation is the most related with the MELAS phenotypic in tRNALeu(UUR) gene. Muscle

biop-sy as diagnostic method is better than molecular analysis of tRNALeu(UUR) gene in MELAS syndrome.

Key words: MELAS, mitochondrial myopathy, muscle bi-opsy, mitochondrial DNA.

*MELAS: estudo clínico, bioquímico, eletroisiológico, morfológico e molecular. Dissertação de Mestrado, Universidade Federal do Paraná (UFPR) (Área: Medicina Interna). Orientadora: Rosana Herminia Scola. Suporte: Fundação Araucária, CAPES e CNPq.

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