Shukarova Angelovska, Elena

Preferred name

Official Name

Shukarova Angelovska, Elena

Main Affiliation

elena.shukarova.angelovska@medf.ukim.edu.mk

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Genetics in Macedonia-Following the international trends
(Wiley Online Library, 2018)
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Genetics in Macedonia-Following the international trends.
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Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia
(MDPI, 2017-08-21)
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Milica Pesevska
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Elizabeta Taseva
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The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff levels. The incidence of CH in different regions of Macedonia has not been evaluated before. A total of 251,008 newborns from all eight regions in the country have been screened between 2002 and 2015, by measurement of the thyroid-stimulating hormone (TSH) from blood spots, sampled 48-72 h after birth, using the DELFIA assay. Overall CH incidence confirmed at birth was 1/1976. The highest CH incidence was observed in the Vardar region (1/970), while the Eastern region had the lowest incidence (1/4202; p=0.021). In the other regions, the following CH incidence was detected: Northeastern 1/1459, Pelagonia 1/1627, Polog 1/1444, Skopje 1/2430, Southwestern 1/3226, and Southeastern 1/1843. Interestingly, in the Vardar region, 4.44% of the screened newborns had a TSH concentration > 5 mIU/L, as an indicator of regional iodine deficiency, compared to the Eastern region where 1.66% of newborns had a TSH > 5 mIU/L. The higher CH incidence in some of the regions may be due to increasing exposure to environmental toxic agents and/or deficient iodine intake. Further research into the potential environmental determinants of increased CH risk is warranted.
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Remission phase of type 1 diabetes in children in the Republic of Macedonia
(Elsevier BV, 2000-09)
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The many faces of oral-facial-digital syndrome
(Walter de Gruyter GmbH, 2012-06)
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N Angelkova
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S Palcevska-Kocevska
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The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.
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Correlation of serum adiponectin and leptin concentrations with anthropometric parameters in newborns
(Serbian Medical Society, 2012)
Palcevska-Kocevska, Snezana
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Aluloska, Natasa
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Kojik, Ljiljana
It has been shown that some adipocytokines and their mutual relationship can be indicators of fetal and neonatal growth. Physiological role of leptin and adiponectin in fetal and neonatal growth is not well established. Objectives. The aim of this study was to assess the correlation of the anthropometrics parameters and serum concentration of leptin and adiponectin levels in healthy newborns. Methods. A cohort of 110 neonates, born after uncomplicated singleton pregnancies at term, were classified as AGA (n=60), SGA (n=30) and LGA (n=20) according to the Lubchenco curves. Anthropometric parameters of the neonates: birth weight (BW), birth length (BL), body weight/body length ratio (BW/ BL), Body Mass Index (BMI) and Ponderal Index (PI) were recorded after birth. Results. Mean serum leptin and adiponectin levels in both sexes were not significantly different (male: 1.85±0.75; 29.51±22.89 and female: 2.06±0.99; 31.60±23.51 ng/mL). There was a significant difference between leptin levels in AGA and LGA newborns (1.93±0.84 vs. 3.12±1.50 ng/mL) (p<0.05), and in adiponectin levels between AGA and LGA compared to SGA newborns (32.8±23.29 and 43.40±31.24 vs. 12.67±2.43 ng/mL, respectively; p<0.05; p<0.05). Leptin and adiponectin levels were positively correlated with BW (r=0.63 and r=0.41), BL (r=0.63, r=0.42), BW/BL (r=0.61, r=0.41), BMI (r=0.54, r=0.35), and PI (r=0.47, r=0.29, (p<0.01). Conclusion. Significantly higher adiponectin levels were found in AGA neonates compared to SGA neonates. Leptin and adiponectine levels were positively correlated with birth weight. These findings suggest that these adipocytokines may be involved in fetal growth regulation.
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Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature
(BMC Part of Springer Nature, 2015-12-15)
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Elena Kochova
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Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum of the NF1 gene is wide and complex; R681X is a rare severe mutation of the NF1 gene known to cause truncation of neurofibromin, with only ten reported cases in the literature so far.
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Prenatal Diagnosis of Cryptic Translocation t(5p;17q) with Fluorescent In Situ Hybridization
(Springer Science and Business Media LLC, 2018-03-08)
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E. Sukarova-Stefanovska
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G. Ilieva
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T. Hristova-Dimkovska
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Two cases of non-syndromic congenital unilateral breast hypoplasia in one family
(Institute of Public Health of the Republic of North Macedonia = Институт за јавно здравје на Република Северна Македонија, 2020-02-20)
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Ana Stamatova
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Micromastia or breast hypoplasia is described as underdevelopment of a womanâ€™s mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breÐ°st cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach.
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Pituitary pseudotumor with unusual presentation reversed shortly after the introduction of thyroxine replacement therapy
(Walter de Gruyter GmbH, 2001)
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S. Netkov
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Pituitary pseudotumor (pituitary thyrotroph hyperplasia) caused by unrecognized and untreated hypothyroidism has been described as a rare condition, mostly in adults. There are only a few reports on this condition in children. Here we describe an unusual association of pituitary pseudotumor with hypothyroidism, vaginal bleeding, and growth retardation in a girl at an early stage of puberty. Hormonal testing showed low thyroxine and high TSH levels, hyperprolactinemia, low growth hormone levels and prepubertal levels of gonadotrophins. Ovarian cyst was detected by ultrasound. A large intrasellar mass expanding beyond the sella turcica was detected on MRI. Homogeneous contrast enhancement confirmed pituitary hyperplasia. Therapy with L-thyroxine resulted in rapid improvement of the clinical signs, normalization of the hormone levels, and resolution of the pituitary hyperplasia on MRI within 40 days. In children, prolonged unrecognized primary hypothyroidism might be accompanied by growth deficiency and pubertal disharmony. Pituitary hyperplasia should be sought in these cases.
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New Vascular Anomaly in a Girl With Turner Syndrome: Mid-Aortic Narrowing
(Elmer Press, Inc., 2012)
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Dafina Kuzmanovska

Shukarova Angelovska, Elena

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