Téma:  Case Studies

Syndrome melas

Miroslav Žigrai, Anna Votrubová, Daniela Gašperíková, Martina Škopková, Pavol Paulíny, Katarína Fabriciová, Juraj Staník, Ľubica Procházková, Víťazoslav Belan, Ľubica Piesecká, Peter Kukumberg, Štefan Hrušovský, Iwar Klimeš

MELAS syndrome (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) is a mitochondrial disease mostly caused by a point mutation A3243G of mitochondrial DNA. A case report of a 24-year-old female is presented with suspected MELAS syndrome based on clinical picture (perception hearing impairment, cumulation of epileptic paroxysms, migraines headaches, right-sided hemiparesis). The disease was confirmed by mutation A3243G. We wanted to demonstrate the -importance of DNA diagnosis in modern medicine.

Ročník 2008  Témy časopisu Neurology 1 / 2008

CHAIRMAN OF THE EDITORIAL BOARD
doc. MUDr. Miroslav Brozman, CSc.

MEMBERS OF THE EDITORIAL BOARD
MUDr. František Cibulčík, CSc.
doc. MUDr. Eleonóra Klímová, CSc.
doc. MUDr. Pavol Kučera, PhD.
MUDr. Marian Kuchar, PhD.
doc. MUDr. Robert Mikulík,Ph.D., FESO
MUDr. Vladimír Nosáľ, PhD.
MUDr. Ľubica Procházková, CSc.
prof. MUDr. Bruno Rudinský, CSc.
doc. MUDr. Daniel Šaňák, Ph.D.
doc. MUDr. David Školoudík, Ph.D., FESO
prof. MUDr. Karel Šonka, DrSc.
doc. MUDr. Peter Špalek, PhD.
Dr. Milan R. Voško, PhD.

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Eva Stachová
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SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 7 pages (font size 12, line spacing 1.5) with maximum 6 pictures (graphs). In case of more extensive theme elaboration it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for neurologists.

CASE STUDY
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6. Bibliography
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Examples of citations:
1. Pitt B, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 1999; 341: 709-717.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
5. Osborne BE. The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.

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Which of following factors is not related to rosacea?
a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor

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