Faculty of Medicine
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Item type:Publication, Impaired glucose tolerance in obese children and adolescents(Blackwell Munksgaard, 2008); ; Sukarova Angelovska, Elena - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A new familial mutation in the SRY gene (Arg133Gly)(Macedonian Academy of Sciences and Arts, 2006-09); Mutations in the testis-determining gene SRY result in XY sex reversal with pure gonadal dysgenesis (PGD). Most of the SRY mutations affect the HMG domain of SRY which plays a central role in DNA binding and bending activity of SRY. The arginine at codon 133 is conserved in the SRY gene of all studied species. It is part of the basic C-terminal region of the HMG box, which was proposed to provide nuclear localization signal. A de novo Arg133Trp mutation was described in two unrelated patients with pure gonadal dysgenesis. Impaired nuclear localization of SRY was proposed as a cause of organogenesis failure for mutations affecting Arg133. Here we describe a novel mutation that affects codon 133 of the SRY gene, resulting in an arginine to glycine substitution in the protein. It was detected in a 17 years old girl with primary amenorrhea, non-mosaic 46,XY karyotype and bilateral gonadoblastoma. The Arg133Gly mutation in the SRY gene was also detected in patient’s father, who is a phenotipically normal male. However, the mutation was not found in the SRY gene of 90 other males, thus excluding the possibility of a common polymorphism. Our report of familial Arg133Gly mutation suggests that replacement of Arg 133 of the SRY is not sufficient for impaired organogenesis and emphasizes the importance of modifier genes in the sex determination pathway. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Неонатален скрининг за вроден хипотироидизам методолошки пристап(Faculty of Medicine, University Ss. Cyril and Methodius in Skopje, 2007); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Воведување на неонатален скрининг за хипотироидизам во Република Македонија(Македонско лекарско друштво, 2002); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A need for a follow up od children with Williams syndrom(Македонско лекарско друштво, 2007); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Weight, height and puberty in a cohort of Macedonian girls(Academy of Medical Sciences of Bosnia and Herzegovina, 2009); ; Obesity is becoming a growing problem in developed and developing countries. Many studies report an increasing incidence of obesity in the last decade. The aim of our transversal epidemiological study was to evaluate the prevalence of overweight children, auxological characteristics and pubertal stage in healthy girls from first (200 girls), third (209), fifth (290) and seventh (223) grade of school. In this study 928 girls were evaluated through systematic school examinations in the ambulance of municipality of Karposh, Skopje. The Rome and Turkish nationality, as well as Serbian were present in a small percentage, while detailed analysis was performed in the Macedonian and Albanian population of girls. The initiation of puberty (stage M2 or P2 by Tanner) was present in Macedonian girls: 4,3% of children in first grade, 23% in third grade, and 51,7% in fifth grade. In Albanians, in first grade M2 is present in 2,7%, in third grade 5,2%, and in fifth grade 46,9%. Body mass index (BMI SDS) was +3,5 ± 1,5 in 35% of Macedonian girls and only 5% of Albanian girls. The Macedonian girls were also significantly higher (p < 0,01) and more obese than the Albanian girls. The pubertal stage was also more advanced in Macedonian girls. Most of the obese children who were included in the study reported increased consumption of fast food. Although in the past years obesity was not a problem in our country, it is becoming more severe with every year. - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Assoziation von IL-1ra und Adiponektin mit C-Peptid und Remission bei Typ-1-Diabetes(Georg Thieme Verlag KG, 2008) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Chimerism and donor-specific nonreactivity 27 to 29 years after kidney allotransplantation(LIPPINCOTT WILLIAMS & WILKINS, 1993-06)