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Časopis Internal medicine – Článok Congenital dysfibrinogenemia and hypofibrinogenemia – molecular basis and clinical phenotype

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

Congenital dysfibrinogenemia and hypofibrinogenemia - molecular basis and clinical phenotype

Angelika Bátorová, Denisa Jankovičová, Ján Lazúr, Tatiana Prigancová, Philippe de Moerloos, Marquerite Neerman-Arbez, Mária Kušíková, Martin Mistrík

Inherited fibrinogen (FBG) disordes represent rare blood coagulation disorders. Discovery of molecular basis and structural
and funcional characteristics of FBG is a key for undersranding of significant variability of clinical manifestation of
these disorders. The National Registry of Congenital Coagulopathies accounts a total of 268 individials with congenital
FBG disorders, among them 1, 77 and 190 individuals with afibrinogenemia, hypofibrinogenemia (hypoFBG) and dysfibrinogenemia
(dysFBG), respectively. We analysed clinical phenotype and genotype in 91 and 28 subjects, respectively.
Out of 75 subjects dysFBG with a median FBG: coag 0,74g/l and FBG: Ag 2,81 g/l, 53%, 41 % and 8 % were asymptomatic,
experienced bleeding and thrombosis, respectively. Out of 16 hypoFBG persons with FBG: coag 1,1 g/l and FBG:
Ag 1,1 g/l, 38 % 38 %, 44 % and 18 % were asymptomatic, had bleeding and thrombosis, respectively, with combined
phenotype in two patients. Genotype analysis in 20 dysFBGs revealed two heterozygous mutations on the exon 2 of the
FGA gene: 13 individuals/3 families had frequent mutation AαArg16His and 6 subjects/2 families had mutation AαGly-
13Glu. In hypoFBG 2 novel mutations on FGG gene were identified: one subject with mutation on exon 7 γTrp253Cys
and 6 persons/3 families had mutation on exon 1 γTrp3→Stop. Variability of phenotype did not allow to establish the
genotype-phenotype correlations. At present, genetic analysis enables to confirm the diagnosis, to reveal potential carriers
and to perform prenatal diagnosis.

hypofibrinogenemia, dysfibrinogenemia, bleeding, thrombosis, gene mutations
Interná med. 2016; 16 (3): 109-115

Ročník 2016  Témy časopisu Internal medicine 3 / 2016

OVERVIEW WORKS

Marián Babčák
Vladimír Uličiansky, Zbynek Schroner
Tomáš Šimurda, Miroslava Dobrotová, Ján Staško, Peter Kubisz
Juraj Papinčák
Andrej Dukát, Lucia Mistríková, Peter Sabaka, Peter Gavorník, Milan Kriška, Michal Pecík, Ľudovít Gašpar
Angelika Bátorová, Denisa Jankovičová, Ján Lazúr, Tatiana Prigancová, Philippe de Moerloos, Marquerite Neerman-Arbez, Mária Kušíková, Martin Mistrík
Kristína Brázdilová, Daniel Čierny, Zdenko Killinger, Juraj Payer
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.

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Eva Stachová
e-mail: stachova@amedi.sk 

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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.

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


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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
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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


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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