Anastasovska, Violeta
Preferred name
Anastasovska, Violeta
Official Name
Anastasovska, Violeta
Main Affiliation
81 results
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Item type:Publication, Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia(MDPI, 2017-08-21); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia(Walter de Gruyter GmbH, 2010-09); Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity. - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency(Society of Medical Biochemists of Serbia, 2015-01); ; Steroid 21-hydroxylase deficiency is present in 90-95% of all cases with congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. It can present as the severe classical salt wasting (SW) or simple virilising (SV) form, or the milder, nonclassical form. Nine pseudogene-derived point mutations account for about 80% of all defects in the CYP21A2 gene coding the 21-hydroxylase enzyme. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism(Walter de Gruyter GmbH, 2016-07-01); ; The essential role of thyroid hormones for normal brain development during a critical period of life is well established. Neonatal screening programs for congenital hypothyroidism (CH) enable early detection of patients and attainment of euthyroid status as quickly as possible. Adequate and accurate monitoring of thyroid function is necessary. In the study we aimed to determine the periodicity of thyroid function testing in the first year of life (3-month intervals versus <3-month intervals monitoring). - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia(Frontiers Media SA, 2020); ; ; Schoenmakers, NadiaNeonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; additionally, a small proportion of thyroid hypoplasia has a monogenic cause, such as TSHR and PAX8 defects. The genetic architecture of Macedonian CH cases has not previously been studied. We recruited screening-detected, non-syndromic GIS CH or thyroid hypoplasia cases (n = 40) exhibiting a spectrum of biochemical thyroid dysfunction ranging from severe permanent to mild transient CH and including 11 familial cases. Cases were born at term, with birth weight >3,000 g, and thyroid morphologies included goiter (n = 11), thyroid hypoplasia (n = 6), and apparently normal-sized thyroid. A comprehensive, phenotype-driven, Sanger sequencing approach was used to identify genetic mutations underlying CH, by sequentially screening known dyshormonogenesis-associated genes and TSHR in GIS cases and TSHR and PAX8 in cases with thyroid hypoplasia. Potentially pathogenic variants were identified in 14 cases, of which four were definitively causative; we also detected digenic variants in three cases. Seventeen variants (nine novel) were identified in TPO (n = 4), TG (n = 3), TSHR (n = 4), DUOX2 (n = 4), and PAX8 (n = 2). No mutations were detected in DUOXA2, NIS, IYD, and SLC26A7. The relatively low mutation frequency suggests that factors other than recognized monogenic causes (oligogenic variants, environmental factors, or novel genes) may contribute to GIS CH in this region. Future non-hypothesis-driven, next-generation sequencing studies are required to confirm these findings. - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up(2018-04); ; Testicular adrenal rest tumors (TARTs) are found in 30-94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its association with metabolic control and genetic mutations. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Gender difference in leptin and adiponectin production in obese children(De Gruyter, 2014-06); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, BASELINE AND ACTH-STIMULATED SERUM 17-HYDROXYPROGESTERONE VALUES IN MACEDONIAN AND SERBIAN 21-HYDROXYLASE DEFICIENCY PATIENTS(De Gruyter, 2014);