Téma: 

Hereditary haemochromatosis

Michaela Bátorová, Lenka Haferová, Štefan Hrušovský, Mária Belovičová, Boris Rychlý

Hereditary haemochromatosis is an inherited, autosomally recesive disease associated with excessive absorption of iron from duodenum and its deposition to the parenchyma of many organs and tissues leading to their disorders. The disease is caused by mutations of the HFE-gene localised in 6. chromosome. The clinical manifestation of haemochromatosis includes weakness, hepatopathy, diabetes, skin pigmentation, cardiopathy, arthropathy and hypogonadism. To prove the diagnosis, biochemical tests (mild elevation of aminotransferases, Fe serum level over 35 µmol/l, transferrin saturation over 45 % and ferritinemia over 1000 µmol/l), liver biopsy (high iron levels in hepatocytes), diagnostic imaging, and molecular genetic methods (HFE gene mutations C282Y and/or H63D) are used. The basic therapy by phlebotomies is inexpensive, effective and well tolerated. The aim of screening protocols (serum ALT, Fe, transferrin saturation) is to detect the disease in its early stages, as early treatment allows the patient to live a normal life.

Ročník 2006  Témy časopisu Gastroenterology for practice 1 / 2006

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

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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.

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

DIAGNOSTIC AND THERAPEUTICAL ALGORITHMS
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MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
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- 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.

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