Faculty of Medicine
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Item type:Publication, Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia – ten years experience(Walter de Gruyter GmbH, 2025-05-26); ; ; Debeljak, MarušaObjectives Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation, with potentialy fatal outcome. Early diagnosis of MCADD by acylcarnitine analysis on newborn screening using tandem mass spectrometry can potentially reduce morbidity and mortality. In this study, we evaluate the prevalence and genetic background of MCADD in North Macedonia. Methods Medium chain length acylcarnitines, were measured on newborn screening blood spot cards by tandem mass spectrometry. The molecular diagnosis was performed by whole exome sequencing of the ACADM gene, and detected mutations were confirmed with Sanger sequencing in all neonates with positive MCAD screening markers, and their parents as well. Results A total of 52,942 newborns were covered by metabolic screening during the period May 2014–May 2024. 11 unrelated Macedonian neonates were detected with positive MCADD screening markers, and prevalence of 1/4,813 live births was estimated. Molecular analysis of the ACADM gene showed that c.985A>G was the most prevalent mutation occurred on 77.27 % of the alleles, while 18.18 % alleles carried c.244dupT pathogenic variant. Seven patients were homozygous for c.985A>G (63.6 %) while one was homozygous for c.244dupT (9.1 %) variant. Two patients were compound heterozygotes with c.985A>G/c.244dupT genotype (18.2 %), and one patient had c.985A>G allele without detection of the second ACADM mutant allele. Conclusions The NBS estimated prevalence of MCADD in Macedonian population was more frequent than in the other European population and worldwide incidence in general. This is the first report of the genetic background of MCADD in North Macedonia. - Some of the metrics are blocked by yourconsent settings
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, Thyroid function and dysfunction in preterm infants-Challenges in evaluation, diagnosis and therapy(Wiley, 2021-10); Thyroid hormone levels have a crucial role for optimal brain development from gestation through the first 2 postnatal years. However, thyroid hormones vary with gestational age, and their levels vary between term and preterm infants. Preterm newborns are prone to thyroid dysfunction which is now more frequently observed with the advances of neonatal care and improved survival of extremely premature infants. Thus, hypothyroxinaemia of prematurity associated with delayed TSH elevation is very common in low birth weight premature infants most likely due to the immaturity of the hypothalamic-pituitary thyroid axis. Furthermore, postnatal illness, medications and iodine status may contribute to the thyroid dysfunction or affect the interpretation of the thyroid function tests. Despite available guidelines, timing of screening and optimal treatment of thyroid dysfunction in premature infants remains controversial. Furthermore, it is unknown whether untreated thyroid dysfunction in premature babies affects neurodevelopmental outcome. In the vast majority of preterm infants, hypothyroxinaemia is transient; however, permanent hypothyroidism due to thyroid dysgenesis or enzyme defects might also occur. Therefore, careful monitoring of thyroid function and long-term follow-up is needed to assess an appropriate therapeutic approach. This article reviews thyroid physiology in preterm infants, the influences of gestation and other neonatal conditions on thyroid function tests, optimal timing of screening and possible predictors to differentiate transient hypothyroxinaemia from permanent hypothyroidism. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism(2018-02); ; ; ; Diagnostic re-evaluation is important for all patients with congenital hypothyroidism (CH) for determining the etiology and identifying transient CH cases. Our study is a first thyroxine therapy withdrawal study conducted in Macedonian CH patients for a diagnostic re-evaluation. We aimed to evaluate the etiology of CH, the prevalence of transient CH and identify predictive factors for distinguishing between permanent (PCH) and transient CH (TCH). - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Prevalence of congenital hypothyroidism in North Macedonia: data from a newborn screening program conducted for twenty years(Turkish National Pediatric Society, Hacettepe University Institute of Child Health, and The International Children's Center, 2023); ; ; Jovcevska Meceska, JasminaCongenital hypothyroidism (CH) is a common endocrine disorder that can be treated if timely detected by newborn screening, optimizing the developmental outcome in affected children. In the present study, we analyze the data of the national newborn thyroid screening program in North Macedonia collected over twenty years, including the CH prevalence as well as its geographical and ethnic variations. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Prevalence of congenital hypothyroidism in North Macedonia: data from a newborn screening program conducted for twenty years(Turkish National Pediatric Society, 2023); ; ; Meceska Jovcevska, JasminaBackground. Congenital hypothyroidism (CH) is a common endocrine disorder that can be treated if timely detected by newborn screening, optimizing the developmental outcome in affected children. In the present study, we analyze the data of the national newborn thyroid screening program in North Macedonia collected over twenty years, including the CH prevalence as well as its geographical and ethnic variations. Methods. The thyroid-stimulating hormone (TSH) was measured on a filter paper blood spot sample using the DELFIA fluoroimmunometric assay. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter. Results. Out of 377,508 screened live births, a total of 226 newborns with primary CH were detected, providing an overall prevalence of 6.0 per 10,000. Lowering the TSH cutoff led to an apparently increased prevalence of the transient CH, from 0.2 to 2.4 per 10,000 live births (p<0.0001) with an impact on the overall prevalence of primary CH (from 4.0 to 7.1 per 10,000, p=0.0001). Taking ethnicity into account, the significantly highest primary CH prevalence of 11.3 per 10,000 live births was observed among the Roma neonates, with a predominance of permanent CH (75.5%). There were also regional differences in the prevalence of primary CH. The highest primary CH prevalence of 11.7 per 10,000 live births was observed in the Vardar region, together with the highest regional prevalence of the transient CH (3.2 per 10,000). The highest prevalence of permanent CH was observed in the Pelagonia region (6.6 per 10,000) where the largest percentage of the Roma population lives. Conclusions. The overall CH prevalence is high in North Macedonia, with substantial ethnic and geographical variations. Further analysis to elucidate the causes for the significant variations in the CH prevalence including environmental factors is warranted - 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, 46, XX DSD with diphallus as a part of a multimalformative syndrome - a case report(2018-02-23); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Thyroid peroxidase (TPO) mutations in Macedonian patients with congenital hypothyroidism(Springer Nature, 2020-06-06); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Detected genotypes in Macedonian patients with simple virilizing form of congenital adrenal hyperplasia(2019-04-17); ; ; ; Ilieva, Gordana