Téma:  Case Studies

Ataxia – telangiectasia

Martin Šimo, Andrea Hlubeková, Miloslav Dvorák, Vlastimil Horný, Patrícia Frimmelová, Ľubomír Gernáth, Katarína Carter, Cyprián Kučera, Jana Šuchorová

Ataxia telangiectasia (AT) – Henner-Louis-Bar‘s syndrome is a genetic disease of the immune system associated with an impairment of other organ systems. It is characterised by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent respiratory infections, immunodeficiency in both humoral (B-lymphocytes) and cell (T-lymphocytes) components and predisposition to particular types of tumours. A disease is progressive and affects males and females equally; the mean age of patients at the time of clinical manifestation is from 2.5 to 7 years. The true incidence of AT is unknown. Despite being considered a rare disease, its prevalence is estimated between 1 : 40 000 to 50 000.

Ročník 2007  Témy časopisu Neurology 3 / 2007

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.

EDITOR-IN-CHIEF
Eva Stachová
e-mail: stachova@amedi.sk

GRAPHIC LAYOUT AND TYPESETTING
Lucia Vecseiová
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LANGUAGE PROOFREADING
Mgr. Eva Doktorová

PROOFREADING OF ENGLISH TEXTS
Mgr. Jana Bábelová

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
Maximum extent is 7 pages. Structuring: summary, introduction, case study, discussion, conclusion, bibliography.

DIAGNOSTIC AND THERAPEUTICAL ALGORITHMS
Diagnosis and therapy processed into tables and schemes, with minimum text, with emphasis on conciseness and clarity.

MISCELLANEOUS
Reaction to overview articles, news in the field of diagnostics, therapy, trial results (maximum 3 pages), reports from professional events, abstracts from scientific work published abroad, not older than 1 year. Maximum extent is 1 page. Write the title of the paper in Slovak/Czech, authors, workplace, then title of the paper in English with full citation.

APPENDIX - GENERAL MEDICINE
Intersectional theme elaborated complexly, well-arranged, clear (extent up to 12 pages).


MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
- write full length of lines (do not use ENTER at the end of a line)
- - do not arrange text into columns
- - do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.
2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and Appendices - General Medicine). Write in 1st or 3rd person singular or plural (unify according the type of an article).
3. Key words - in the extent of 3-6 (only for overview papers and Appendices - General Medicine).
4. English translation: paper title, summary, key words (only at overview papers, and Appendices - General Medicine)
5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).
6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

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.

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.:

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

The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are reviewed.

All published papers are paid.

Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-patient neurological practice.

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