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Časopis Internal medicine – Článok Clinical and biochemical aspects of copper metabolism impairment and Wilson disease

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: 

Clinical and biochemical aspects of copper metabolism impairment and Wilson disease

Viera Kupčová

Wilson disease (WD) is a congenital disease, with autosomal-recessive type of inheritance, which leads to accumulation
of copper in tissues, dominantly inside the liver and brain. The hepatic form of WD may be manifested as steatosis,
chronic, eventually acute hepatitis, or liver cirrhosis. The neurological form is manifested most offen after second decade
as motoric disturbance (tremor, speech and writing impairment), which may have progression to severe extrapyramidal
syndrome with dysarthria, dyphagia, tremor, rigidity and sometimes even with muscle contractures.
Neurological symptoms may be combined with psychiatric symptomatology. Confirmation of diagnosis is possible
according to clinical and laboratory investigations (finding of Kayser-Fleischer ring, decreased level of ceruloplasmin
and copper in serum, elevation of free copper in serum, elevated amount of copper in urine after 24 hours, etc.). Genetical
investigation, or investigation of copper in liver tissue confirms the diagnosis. In a group of 109 individuals there
was: 45 patients – homozygots, 6 patients – combined heterozygots, 44 individuals with one mutation in heterozygous
form and 14 individuals withouth mutation. 60 % of patients had hepatic form of disease, 21 % neurologicpsychiatric
form of disease and 19 % mixed form of disease. 91 % of patients were treated conservatively, 9 % underwent
liver transplantation. In patients with WD signifficant decreased values of apoceruloplasmin, ferroxidase and polyfenoloxidase
activity of ceruloplasmin were present. These findings support oxidation stress in Wilson disease.

Wilson disease, ceruloplasmin, apoceruloplasmin, ferroxidase activity of ceruloplasmin, polyfenoloxidase activity of ceruloplasmin
Interná med.; 15 (7-8): 341-346

Ročník 2015  Témy časopisu Internal medicine 7 / 2015

Jozef Holomáň
Miroslav Mydlík, Katarína Derzsiová, Katarína Javorská, Katarína Šebeková, Ivana Koborová, Radana Gurecká
Anna Gvozdjáková, Jarmila Kucharská, Oľga Vančová, Oľga Uličná
Iveta Šimková, Anna Remková, Marcela Boháčeková, Tatiana Valkovičová, Monika Kaldarárová
Viera Kupčová
Ľubomír Skladaný, Svetlana Adamcová-Selčanová, Erika Čellárová
Mária Szántová
Michaela Fedelešová, Ľubomír Valko
Viliam Mojto
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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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.
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a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor


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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