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Časopis Gastroenterology for practice – Článok Gaucher disease and its management – case report

Gastroenterology for practice

Reviewed, postgraduate scientific medical journal.
Period 4x per year
ISSN:1336–1473
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
Gastroenterology for practice
Gastroenterology for practice
Reviewed, postgraduate scientific medical journal.
Period 4x per year
Predplatné
Téma:  Case Studies

Gaucher disease and its management – case report

Eduard Veseliny, Peter Jarčuška, Anna Hlavatá, Jana Šaligová, Martin Janíčko

Gaucher disease (GD) is an autosomal recessive metabolic disease which is caused by the defective activity of the lysosomal enzyme, β-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, anemia, and some skeletal complications. 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. We present two cases of patients with GD type 1 who were treated by ERT with excellent clinical outcome. On behalf of our personal clinical experience we might judge that ERT is very effective, very well tolerated, and highly safe therapy of GD. The one disadvantage is very big financial burden.

Gaucher disease, splenomegaly, thrombocytopenia, enzyme replacement therapy, imiglucerase
Gastroenterol. prax 2011; 10 (3): 153-158

Ročník 2011  Témy časopisu Gastroenterology for practice 3 / 2011

Marian Bátovský
Anton Vavrečka
Anton Vavrečka, Daniel Pinďák, Juraj Pechan
Petr Dítě, Ivo Novotný, Bohumil Kianička, Jan Trna

Case Studies

Eduard Veseliny, Peter Jarčuška, Anna Hlavatá, Jana Šaligová, Martin Janíčko
Michal Makovník, Stella Hlinšťáková, Ivan Očadlík, Ľudovít Gašpar, Peter Bluska

Overview works

Ivan Solovič
Martina Ondrušová, Rudolf Hrčka, Dalibor Ondruš
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CHAIRMAN OF THE EDITORIAL BOARD
prof. MUDr. Rudolf Hyrdel, CSc.

MEMBERS OF THE EDITORIAL BOARD
doc. MUDr. Marian Bátovský, CSc., mim. prof. SZU
prof. MUDr. Juraj Bober, CSc.
MUDr. Ivan Bunganič
prof. MUDr. Petr Dítě, DrSc.
doc. MUDr. Martin Huorka, CSc.
doc. MUDr. Peter Makovník, CSc.
MUDr. Juraj Májek, PhD.
prof. MUDr. Peter Mlkvý, CSc.
MUDr. Tomáš Šálek
MUDr. Renata Szépeová, PhD.
prof. MUDr. Anton Vavrečka, CSc.
MUDr. Mária Zakuciová

EDITOR-IN-CHIEF
Ing. Danica Paulenová
e-mail: paulenova@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
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telefón: 02/55 64 72 48
mobil: 0911 117 949
e-mail: ekonom@amedi.sk

PROFESSIONAL PROOFREADING
doc. MUDr. Soňa Kiňová, PhD.

LANGUAGE PROOFREADING
Mgr. Eva Doktorová

PROOFREADING OF ENGLISH TEXTS
Mgr. Jana Bábelová
SECTIONS

SURVEY WORKS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy.
Maximum size is 8 pages (font size 12, line spacing 1.5) with maximum five 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 focus on its practical use for gastroenerologists and specialists from other disciplines interested in gastroenterology.

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.

REVIEWS FROM LITERATURE
News from foreign press, news in the field of diagnoses, therapies and other professional information, maximum extent is 2 pages.

MISCELLANEOUS
Reactions to articles, information on professional events, new books, reviews, conference reports, invitations and so on. Abstract written in Slovak or Czech from scientific work published here or 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. Appropriate is to explain basic terms.


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 the text into columns - do not do page make-up, tables put 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). 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 case studies).
4. English translation: paper title, summary, key words (only at overview papers and case studies)
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. Vaughan TL, Davis S, Kristal A, et al. Obesity, alcohol and tobacco risk factors for cancers of esophagus and gastric cardia :adenocarcinoma versus squamous cell carcinoma Cancer Epidemiol Biomarkers Prev 1995; 4: 85-92.
2. Gao YT, McLaughlin JT, Gridley T, et al. Risk factors for esophageal cancer in Shanghai, China. Role of diet and nutrients. Int J Cancer 1994; 58: 197-202.
3. 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.

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."


AUTODIDACTIC TEST

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.

Origination of pigment stones is related to:
a. acute haemolysis
b. chronic haemolysis
c. hypercalcaemia
d. hyperlipoproteinaemia

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 practice of gastroenterologists and related specialisations.

Send contributions in the e-mail to the address: paulenova@amedi.sk
Period 4x per year
ISSN:1336–1473
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
Gastroenterology for practice
Gastroenterology for practice
Reviewed, postgraduate scientific medical journal.
Period 4x per year
Predplatné