Croatian medical journal
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Croatian medical journal · Aug 2006
Strategy for mapping quantitative trait loci (QTL) by using human metapopulations.
To present a novel strategy for mapping quantitative trait loci (QTL), using human metapopulations. The strategy is based on the expectation that in geographic clusters of small and distinct human isolates, a combination of founder effect and genetic drift can dramatically increase population frequency of rare QTL variants with large effect. In such cases, the distribution of QT measurements in an (affected) isolate is expected to deviate from that observed in neighboring isolates. ⋯ Early epidemiological assessment supports the feasibility of the proposed strategy. Clusters of individuals with extreme QT values responsible for over-representation of single villages can usually be linked to a larger pedigree and may be useful for further QTL mapping, using linkage analysis.
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Croatian medical journal · Aug 2006
Historic exposure to plague and present-day frequency of CCR5del32 in two isolated island communities of Dalmatia, Croatia.
To assess the frequency of deletion of 32 base pairs in a CCR5 gene, shown to confer resistance to HIV infection, in two isolated island communities of Dalmatia, Croatia, with different histories of exposure to (plague) during the medieval period and beyond. ⋯ This study does not rule out the possible role of plague in positive selection at CCR5del32. However, analyses of further neighboring isolated island communities need to be made in order to provide more substantial support for this hypothesis.
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Croatian medical journal · Aug 2006
ReviewMendelian diseases and conditions in Croatian island populations: historic records and new insights.
Among Croatian islands, there are several which are known for unusual autochthonous diseases and specific medical conditions that result from the reproductive isolation and specific population genetic structure. These populations are characterized by high degree of genetic isolation, consanguinity, and inbreeding. The reported diseases include Mal de Meleda on Mljet island, hereditary dwarfism on Krk island, familial learning disability on Susak island, familial ovarian cancer on Lastovo island, and several other rare diseases and conditions inherited in Mendelian fashion. ⋯ The disease gene causing Mal de Meleda was first localized at 8q chromosome, and mutations in the ARS (component B) gene encoding SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1) protein were identified subsequently. The genetic etiology of dwarfism on the island of Krk is explained by a mutation in the PROP1 gene, responsible for the short stature. The search for mutations underlying other monogenic diseases in Croatian islands is under way.
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Croatian medical journal · Jun 2006
Survival analysis of 314 episodes of sepsis in medical intensive care unit in university hospital: impact of intensive care unit performance and antimicrobial therapy.
To evaluate epidemiology of sepsis in medical intensive care unit (ICU) in a university hospital, and the impact of ICU performance and appropriate empirical antibiotic therapy on survival of septic patients. ⋯ The mortality rate of sepsis was unacceptably high. The odds for poor outcome increased with acquisition of sepsis at another department, winter season, limited mobility, higher SOFA score on day 1, history of chronic global heart failure, COPD-connected respiratory failure, and septic shock present during ICU treatment, whereas longer ICU length of stay, positive blood culture, and adequate empirical antibiotic therapy were protective factors.
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Croatian medical journal · Jun 2006
Sepsis syndrome in Croatian intensive care units: piloting a national comparative clinical database.
To assess the incidence of sepsis in selected intensive care units (ICUs) in Croatia, isolates from blood cultures, and sepsis outcomes, and to compare the results with those from other European countries. ⋯ Overall mortality of patients with sepsis syndrome in Croatian ICUs was high, but outcomes of their treatment were comparable with those in other European countries. Better education in triage and treatment strategies is needed, including better implementation of Surviving Sepsis Campaign guidelines.