Papers by Violeta Anastasovska
Diagnostic value of anti-cyclic citrullinated peptide antibodies in patients with rheumatoid arthritis
Makedonski medicinski pregled, 2007
Turkish Journal of Pediatrics, 2023
Congenital hypothyroidism (CH) is an endocrine disorder due to thyroid hormone deficiency present... more Congenital hypothyroidism (CH) is an endocrine disorder due to thyroid hormone deficiency present at birth, causing irreversible intellectual disability. It is classified as primary when the origin of the defect is in the gland itself, or secondary when the hypothalamic-pituitary axis is affected. 1-4 Primary CH can be further divided into permanent CH due to persistent thyroid hormone deficiency and transient CH that refers to a temporary deficiency of thyroid hormones. 1,5 Most neonates born with CH
P017 Different ethnical distribution of the incidence of cystic fibrosis in Republic of North Macedonia
Journal of Cystic Fibrosis, 2021
Difficulties in Diagnosing Variable Disorders of Sexual Development
Testicular Adrenal Cell Rest Tumours are not Associated with 21 Hydroxylase Mutations or Therapy Compliance in Boys with Classic form of CAH
Journal of Cystic Fibrosis, 2020
Results: Among 6354 infants, there were 2299 in C1, 2172 in C2 and 1883 in C3. Reported age at di... more Results: Among 6354 infants, there were 2299 in C1, 2172 in C2 and 1883 in C3. Reported age at diagnosis was earlier than AFE. Across time periods, AFE decreased. Weight for age (WFA) and height for age (HFA) Z-scores at age 1 were close to 0 and not different between the cohorts. HFA Z-score at age 5 was better in C2 than C1. Pseudomonas aeruginosa (PA) infection rates decreased over time. Results are summarized in the table.
P012 Two-year neonatal screening for cystic fibrosis in Republic of North Macedonia
Journal of Cystic Fibrosis, 2021
Partial monosomy 22q11 associated with velo-cardio-cutaneus syndrome due to a de novo translocation
European Journal of Human Genetics 10(Suppl, Jan 8, 2002
Balkan Journal of Medical Genetics, 2021
There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibros... more There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibrosis (CF) in terms of reduced disease severity, improved quality of life, lower treatment burden, and reduced costs. More and more countries in the world are introducing NBS for CF as a national preventive health program. Newborn screening for CF was introduced in the Republic of North Macedonia (RNM) in April, 2019, after a pilot study of 6 months in 2018. A two-step immunoreactive trysinogen (IRT-IRT) algorithm is performed, and then a sweat test for confirmation/exclusion of the CF diagnosis when the IRT values were both over the cutoff (70.0 and 45.0 ng/mL, respectively). In cases with confirmed diagnosis of CF (a sweat chloride concentration >60.0 mmol/L) or with intermediate sweat test results (a sweat chloride concentration of between 30.0 and 59.0 mmol/L), CF transmembrane conductance regulator (CFTR) mutation analysis is performed. By the end of 2020, over a period of 27 months...
P045 Results from a newborn screening (NBS) pilot study for cystic fibrosis in the Republic of Macedonia
Journal of Cystic Fibrosis, 2019
P009 The spectrum of CFTR mutations in newly diagnosed cases of cystic fibrosis through newborn screening in the Republic of North Macedonia
Journal of Cystic Fibrosis
Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia—a multiethnic country
European Journal of Pediatrics, 2014
Genotype-Phenotype Correlation in CAH Patients with Severe CYP21A2 Point Mutations in the Republic of Macedonia
Journal of Pediatric Endocrinology and Metabolism, 2010
Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH... more 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. We have performed direct molecular diagnosis of the nine common CYP21A2 point mutations in 24 Macedonian CAH patients from 20 unrelated families, using differential PCR and ACRS. Five of the analysed mutations were detected in 23 patients: 15 patients were homozygous for one mutation, four patients were compound heterozygotes and four patients were heterozygotes. The most common was IVS2-13A/C mutation found in 60.4% of the alleles, followed by Q318X (22.9%), R356W (4.2%), V281L (2.1%) and P30L (2.1%). The concordance of genotype to phenotype in the patients was 83.3% with complete concordance in the genotypes predicting the SW and SV phenotype. The distribution of the detected mutations in the Macedonian CAH patients was similar with those described in other European populations. The genotype-phenotype correlation observed in our patients strengthens the fact that the genotype cannot be completely predictive of phenotype.
Balkan Journal of Medical Genetics, 2010
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal... more A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal HyperplasiaNonclassical congenital adrenal hyperplasia (NCAH) is an autosomal recessive imbalance in cortisol synthesis with adrenal androgen excess. Although rarely recognized in infants, it may cause premature adrenarche and pubarche, virilization in young women and variable symptoms in young men. It is commonly caused by mutations in CYP21A2, the gene for steroid 21-hydroxylase. Patients with the p.P30L allele tend to have pronounced evidence of androgen excess but are categorized as nonclassical. We used direct molecular detection of the p.P30L mutation in CYP21A2 in 11 Macedonian NCAH patients and in 17 members of their families using polymerase chain reaction/amplification created restriction site (PCR/ACRS) analysis and digestion with restriction enzymes. The p.P30L mutation was found in a homozygous state in seven (63.6%) and in a heterozygous state in four (36.4%) patients. Of ...
Balkan Journal of Medical Genetics, 2007
Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepan... more Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype DiscrepancyCongenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a variable clinical presentation caused by a spectrum of different mutations. A significant association of genotype with phenotype has been reported.The molecular analysis of a girl with a mild form of CAH presenting with precocious pubarche, confirmed that she was heterozygous for two mutations of the CYP21 gene (exon 1, codon 30/exon 8, codon 318). Her mother was homozygous for the codon 30 mutation and her father was homozygous for the codon 318 mutation. The only anomaly in the parents was a difficulty in conceiving. The molecular analysis of this family confirmed the variability of presentation in carriers of different mutations, which caused difficulties in decisions about the timing of therapy and in genetic counseling.
Balkan Journal of Medical Genetics, 2010
Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Rep... more Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of MacedoniaCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed CYP21A2 and P450c21). The IVS-II-656 (C/A>G) mutation leaves ~2.0% enzyme activity, and comprises 25% of the classic CYP21 deficiency alleles and 51% of alleles in the salt-wasting form.We performed direct molecular diagnosis of the IVS-II mutation in 41 Macedonian patients with different clinical forms of CAH and 55 of their healthy parents and siblings from 37 unrelated families, using the differential polymerase chain reaction/amplification created restriction site method (PCR/ACRS). The IVS-II mutation was detected in 41.5% patients (29.3% were homozygotes and 12.2% were heterozygotes). All homozygotes had a severe classical CAH phenotype (of which 91.7% were salt-wasting and 8.3% were simple viri...
Balkan Journal of Medical Genetics, 2014
Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in chil... more Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick. The TSH cut-off level was 10 mU/L. The neonatal thyroid screening coverage was 93.4%. Eight newborns with CH were detected, with an incidence of 1:1220 live births, significantly higher compared to the nationwide results 1:2602. The TSH level was not significantly dependent on the gender of the newborn. There was a statistically significant difference between the TSH level ...
Prilozi, 2006
It has been well documented that hypercholesterolemia represents both a common and a dominant, al... more It has been well documented that hypercholesterolemia represents both a common and a dominant, although non-obligatory, risk factor in the progression of atherosclerosis. Research was conducted upon experimentally induced hyperlipidemic animals by means of a custom-tailored atherogenic diet. Cell susceptibility to nonenzyme-induced oxidative stress appears to be influenced by membrane fatty acid composition. This study was undertaken to determine whether differences in lipid peroxidation in steady-state and induced lipid peroxidation is a result of a different fatty acid supplementation. Adult Wistar strain rats of male gender were exposed to an atherogenic diet for a period of 160 days, before randomization into 6 dietary groups with different intragastral oil supplementation. Lipid peroxidation products were measured in 2.5% (w/v) of fresh liver homogenates (Tris-HCl, pH 7.4), by the assay of a thiobarbituric acid reactive substances (TBARS) formation using the procedures describe...
Prilozi, 2010
BACKGROUND Deficiency of 21-hydroxylase is present in 90-95% cases of congenital adrenal hyperpla... more BACKGROUND Deficiency of 21-hydroxylase is present in 90-95% cases of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. Eleven common pseudogene-derived mutations account for approximately 95% of all affected CYP21A2 alleles in all three clinical forms of the disease. OBJECTIVE To analyse the detected heterozygotes during the molecular analysis of eleven CYP21A2 common pseudogene-derived point mutations in Macedonian CAH patients and their relatives, using the PCR-ACRS protocol. MATERIAL AND METHODS We performed direct molecular detection of CYP21A2 mutations: p.P30L, IVS2-655 C/A→G, G110Δ8nt, p.I172N, p.I236N, p.V237E, p.M239K, p.F306+t, p.V281L, p.Q318X and p.R356W, in 51 CAH Macedonian patients and their 70 healthy relatives (parents and siblings), using the differential PCR-ACRS protocol. RESULTS Six of the analysed mutations were detected in 29.4% (15/51) of the patients, in the heterozygous state, with the following distribution: IVS2-655 C/A→G (13.7%), p....
Phenylketonuria screening in the Republic
Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by ea... more Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Macedonia since 2011.
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Papers by Violeta Anastasovska