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    BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia
    (Springer Science and Business Media LLC, 2018-04)
    Jakimovska, Milena
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    Maleva Kostovska, Ivana
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    Popovska-Jankovic, Katerina
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    Kubelka-Sabit, Katerina
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    Karadjozov, Mitko
    We aimed to establish the spectrum of BRCA1/2 mutations among the breast cancer (BC) patients from the Republic of Macedonia.
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    Item type:Publication,
    DOUBLE TROUBLE: DCX MUTATION-ASSOCIATED SUBCORTICAL BAND HETEROTOPIA – A CASE REPORT
    (Macedonian Neurological Society, 2025-10)
    Babunovska, Marija
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    Boshkovski, Bojan
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    Kostovska, Irena
    Background: Patients with epilepsy have an increased risk of fractures, partly due to antiepileptic therapy (AET) through reduced bone mineral density (BMD). Although bone loss is multifactorial, AET may play a significant role, but the exact mechanisms remain unclear. Aim: To investigate the association between AET use and decreased BMD in an unselected population of Macedonian patients with epilepsy. Internationally accepted guidelines for bone health monitoring in epilepsy are lacking, and in our country there are no standardized recommendations. Identifying highrisk groups is essential for the prevention of osteoporosis and fractures. Methods: A cross-sectional study was conducted on 95 patients older than 20 years, treated with AET for more than 2 years, who attended the Epilepsy Outpatient Department at the University Clinic of Neurology between January 1st, 2021 and January 31st, 2024. Data included DXA scan results and demographic information. Logistic regression and other statistical analyses were applied. Results: Osteopenia was present in 50.5% and osteoporosis in 20.0% of patients. Independent risk factors for reduced BMD were female sex, polytherapy with AET, comorbidities, menopause, older age, and longer epilepsy duration. Age >50 years and depression were significant in univariate analysis but not confirmed in multivariate analysis. Conclusion: Independent risk factors such as female sex, menopause, older age, lower BMI, polytherapy, epilepsy duration, and comorbidity were associated with decreased BMD in epilepsy patients. These findings emphasize the importance of using known risk factors as guidance to identify patients at high risk of osteoporosis and fractures.
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    А rare case of left ventricular hypertrophy and non-compaction cardiomyopathy in an adult: diagnostic approach
    (Macedonian Society of Cardiology, 2021-03)
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    Zafirovska, P
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    Risteski, D
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    Left ventricular non-compaction cardiomyopathy (LVNC) is a rare form of primary genetic cardiomyopathy which is characterized by prominent trabeculations and intertrabecular recesses that communicate with the cavity of the left ventricle. The prevalence is between 0.014%-1.3% in the general population. LVNC is associated with different genetic mutations and may have a genetic overlap with the phenotype of other cardiomyopathies, including hypertrophic cardiomyopathy (HCM). In this case report we present a 26-year-old female patient presenting to emergency room with bradycardia and syncope. The transthoracic echocardiography revealed hypertrophy and trabeculations with prominent recesses of the left ventricle. Cardiovascular magnetic resonance imaging (MRI) was performed to confirm the diagnosis of LVNC. The genetic analysis showed mutation of PRKAG2 gene indicating hypertrophic cardiomyopathy with conduction disturbance. In the last years, LVCN and HCM are diagnosed more frequently due to improvements in imaging methods. Although there are many diagnostic tools including contrast ventriculography, CT and MRI, echocardiography is the main imaging method used for diagnostic evaluation of LVNC and HCM. Key words: left ventricular non-compaction cardiomyopathy, hypertrophic cardiomyopathy, echocardiography, cardiovascular magnetic resonance imaging
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    Association of TNF-a (rs361525 and rs1800629) with susceptibility to cervical intraepithelial lesion and cervical carcinoma in women from Republic of North Macedonia
    (Wiley-Blackwell Publishing Ltd., 2020)
    Duvlis, Sotirija
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    Cvetkovski, Aleksandar
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    Cervical cancer (CCa) is one of the most common malign diseases in women associated with human papillomavirus (HPV). The virus is an initiating factor, but not sufficient for the development of cervical intraepithelial lesions (CIN) and CCa. The disease might be a result of the influence of host's genetic factors and polymorphisms in inflammatory-related genes that modify the immune response to HPV and attribute to cancer susceptibility. We carried out a study to determine the association between TNF-a-238G/A and TNF-a-308 G/T polymorphisms with HPV-positive CIN and CCa in women living in the Republic of North Macedonia. Using multiplex SNaPshot analysis for single nucleotide polymorphisms (SNPs), we analysed the genotype and allele distributions of TNF-a-238G/A and TNF-a-308 G/T in 134 cases (HPV-positive and histologically confirmed CIN and CCa) and in 113 controls (cytological and HPV-negative women). For further analysis, the case group was stratified in three subgroups (all cases: CINs+ CCa− group; CIN2+ -group and CIN1− group). Data analysed using the odds ratio (OR) and chi-square test showed the frequency of AA genotypes and A alleles are not significantly higher in cases compared to the controls for both SNPs: AA of TNF-a-238 (0.7% versus 0%) and TNF-a-308 (1.5% versus 0.9%) as well as A allelic frequency (3.0% versus 1.7%) and (13.1% versus 10.6), respectively. The comparison of the case's subgroups with the control group did not show a statistically significant difference. Compared to controls, TNF-a-238G/A and TNF-a-308 G/T are not associated with the risk of HPV associated CIN or CCa in the studied women.
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    THE ROLE OF THE EARLY DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE IN FETUSES- CASE STUDY
    (SHMSHM - AAMD, 2018-09)
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    ABSTRACT Introduction: The autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder that is present in 1:20,000 babies. A fetal death may occur due to a severe oligohydramnios, or neonatal death caused by pulmonary insufficiency. The aim of the case study presentation is to point out the importance of the ultrasound diagnosis as early as possible in the pregnancy, so that the right decision is made by the parents and by the gynecologist. Methods: The methods used in this case include ultrasound, invasive diagnosis- amniocentesis and chorionic villus sampling, cytopathologic analysis and PCR amplification and sequencing of PKHD1 gene in the parents’ blood, amniotic fluid and chorionic villi. Results: The patient is 29 years old women, fourth pregnancy, previous two labors on time with caesarean section, both of the babies died in the neonatal period and are subject to post-mortem examination. The findings from the post-mortem examination shown a suspicion for autosomal recessive polycystic kidney disease (ARPKD). After the second result of the post-mortem examination, the parents were examined for having a mutation in the PKHD1 gene and it was confirmed that both of them are having this mutation. The third pregnancy ended with an induced abortion because the amniocentesis confirmed a fetus having a homozygote for ARPKD. In the fourth pregnancy a chorionic villus sampling was performed and a fetus was found with a heterozygote for ARPKD and the pregnancy was successful with a viability of the fetus. Conclusion: The timely intervention of gynecologist can prevent unfavorable effects- Caesarean section of matured fetuses that then usually exist in the first two months, because dialysis is the only therapy, temporarily until kidney transplantation takes place. This leads to emotional and medical consequences suffered by the parents.