Amedi.sk
Dovoľujeme si Vás upozorniť, že naša web stránka
je určená iba pre odbornú lekársku verejnosť.
Časopis Internal medicine – Článok Gaucher disease – current diagnostic and therapeutic approach

Internal medicine

Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
1335-8359
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Internal medicine
Internal medicine
Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
Predplatné
Téma: Overview works

Gaucher disease – current diagnostic and therapeutic approach

Eduard Veseliny, Peter Jarčuška, Jana Šaligová

Gaucher disease (GD), the most common lysosomal storage disorder, is an autosomal recessive metabolic disease which if undiagnosed or diagnosed late results in devastating complications. GD is caused by the defective activity of the lysosomal enzyme, acid-β-glucosidase (glucocerebrosidase) leading to accumulation of glucosylceramide and other glycolipids within the lysosomes of macrophages. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly (usually massive splenomegaly, hepatomegaly), thrombocytopenia, anaemia, and some skeletal complications. Because of the variability in the manifestations, severity, and progression of GD, management and treatment must be individualized. Each patient should undergo a comprehensive initial assessment of all potentially affected organ systems. Treatment is then individualized to achieve specific therapeutic goals. The treatment options for adult type GD include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Future treatment options are gene therapy and enzyme enhancement therapy by chemical chaperones. In this review, we present the key issues about GD and new developments that clinicians should be aware of.

Gaucher disease, splenomegaly, thrombocytopenia, enzyme replacement therapy, imiglucerase
Interná med. 2011; 11 (2): 61-67

Ročník 2011  Témy časopisu Internal medicine 2 / 2011

Overview works

Miroslav Šimek
Eduard Veseliny, Peter Jarčuška, Jana Šaligová
Marta Chamulová, Peter Kružliak, Pavel Babušík

Markéta Vojtová

VEGETARIAN DIET AND OSTEOPOROSIS – I I. PROTEINS AND MINERALS
Libor Ebringer
Nie sú dostupné žiadne voľne dostupné články
CHAIRMAN OF THE EDITORIAL BOARD
prof. MUDr. Ivica Lazúrová, CSc. FRCP

REPRESENTATIVE OF CHAIRMAN
prof. MUDr. Juraj Payer, CSc., FRCP

MEMBERS OF THE EDITORIAL BOARD
doc. MUDr. Viera Fábryová, CSc.
MUDr. Viera Fedelešová, CSc.
prof. MUDr Martin Haluzík, CSc.
prof. MUDr. Štefan Hrušovský, CSc. Dr.SVS.
prof. MUDr. Rudolf Hyrdel, CSc.
doc. MUDr. Oľga Jurkovičová, CSc.
doc. MUDr. Zdenko Killinger, PhD.
doc. MUDr. Soňa Kiňová, PhD.
prof. MUDr. Peter Mitro, PhD.
doc. MUDr. Viliam Mojto, CSc., MHA
prof. MUDr. Karel Pacák, DrSc.
prof. MUDr. Juraj Payer, CSc., FRCP
doc. MUDr. Ján Podoba, CSc.
prof. MUDr. Igor Riečanský, DrSc.
doc. MUDr. Ján Staško, PhD.
doc. MUDr. Mária Szántová, PhD.
prof. MUDr. Ivan Tkáč, PhD.

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

GRAPHIC LAYOUT AND TYPESETTING
Lucia Vecseiová
e-mail: dtp@amedi.sk 

MARKETING MANAGER
Ing. Dana Lakotová
mobil: 0903 224 625
e-mail: marketing@amedi.sk

ECONOMY AND SUBSCRIPTIONS
Ing. Mária Štecková
telefón: 02/55 64 72 48
mobil: 0911 117 949
e-mail: ekonom@amedi.sk

PROFESSIONAL PROOFREADING
doc. MUDr. Mária Szántová, PhD.

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 six pictures (graphs). In case of more extensive theme 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 out-patient internists and general practitionrs.

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 extend 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. Shaheen NJ, Crosby NA, Bozymski EM, et al. Is there publication bias in the reporting cancer risk in Barrett ́ esophagus? Gastroenterology 2000; 119: 333-338.
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", in Slovak and Czech citations "a spol.".

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 double 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 internists and general practitioners.


Send contributions in the e-mail to the address: stachova@amedi.sk
Period 11x per year (july - august double issue)
1335-8359
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Internal medicine
Internal medicine
Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
Predplatné