Faculty of Medicine
Permanent URI for this communityhttps://repository.ukim.mk/handle/20.500.12188/14
Browse
11 results
Search Results
- Some of the metrics are blocked by yourconsent settings
Item type:Publication, PREVALENCE OF ANTI-SARS-COV-2 IGG ANTIBODIES IN SKOPJE, NORTH MACEDONIA: TWO-TIME POINTS POPULATION-BASED CROSS-SECTIONAL STUDY(University Ss. Cyril and Methodius in Skopje, 2023); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant(Walter de Gruyter GmbH, 2023-05); ; ; Muaremoska-Kanzoska, LjeljaHoloprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis(Frontiers Media SA, 2024); ; ; Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Mutation of ABCA4 gene as a cause of autosomal recessive form of Stargardt disease – case report(Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, 2024-12); ; Rushiti, MuhamedinStargardt disease is the most common type of juvenile macular dystrophy. It is inherited autosomal recessively, although autosomal dominant forms have also been described. It affects both sexes equally, without racial predisposition. Patients experience a progressive deterioration of the macular region and loss of central vision, leading to legal blindness in the majority of affected individuals.In this paper, we describe the case of an 11-year-old boy who presented for an ophthalmological evaluation due to a progressive decrease in visual acuity. The fundoscopic examination supplemented with imaging ophthalmological methods were sufficient to establish a working diagnosis of Stargardt disease. The diagnosis was confirmed by genetic testing, a mutation of the ABCA4 gene, which is associated with this dystrophy. The importance of this case report is that it is one of the first documented cases of Stargardt disease with ABCA4 mutation in Macedonia - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Recurrent Severe Polyhydramnios in Bartter Syndrome: A Case Report(Journal of Biomedical Science Networks+ LLC, 2023); ; Gurzanova, TatjanaRepetitive severe polyhydramnios is a potentially serious obstetric condition which requires detail evaluation. We present a case of a 35-year-old pregnant woman referred due to extreme repetitive polyhydramnios in 19 gestational week. She had history of two missed abortions and premature labor in 23 gestational weeks with extreme polyhydramnios and death. Pat histology report didn’t show any anomaly of the organs and systems of that neonate. The actual pregnancy was conceived with IVF procedure and went uneventful until 19 GW. Combined first trimester screening and the noninvasive prenatal test went with low risk for aneuploidies. Gestational diabetes was excluded. Second trimester morphology scan and TORCH infections were within normal. She was hospitalized in 26 GW as a result of premature contractions, received tocolytic therapy on several occasions. Amnioreduction was performed twice, amniotic fluid for quantitative karyotype was done and came negative for aneuploidies (13,18,21 and sex chromosomes). Consultation with genetics and pediatric nephrologist was made due to suspicion of Bartter syndrome. Amniotic fluid as well as blood from both partners was sent to referent genetic laboratory and the molecular findings were in line with the diagnosis of SLC12A1 associated Bartter syndrome type 1 in the fetus. Corticosteroid therapy for fetal lung maturation was given and delivery was made by caesarean section in 31 gestational weeks. The neonate with weight 1180g, length 30cm, Apgar score 6/6/7, was admitted to neonatal intensive care unit. On the 7th day there was a gradual worsening in the general condition with cardiopulmonary failure and no response to reanimation resulted in neonatal death. Conclusion: Bartter syndrome is an autosomal recessive disease characterized by severe fetal polyuria and extreme polyhydramnios. It can be cause of preterm labor and should be suspected in cases of repetitive polyhydramnios. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, TYPE OF CYP450 2C19 GENE METABOLIZERS IN PATIENTS UNDERGOING PERCUTANEOUS CORONARY INTERVENTION IN THE REPUBLIC OF NORTH MACEDONIA -A PILOT STUDY(University Ss. Cyril and Methodius in Skopje, 2022); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A single dose of BNT162b2 vaccine elicits strong humoral response in SARS-CoV-2 seropositive individuals(Wiley, 2022-01); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Association of 22 cytokine gene polymorphisms with tuberculosis in Macedonians(2009-07); ; Strezova, AnaTo examine the possible role of 22 cytokine gene polymorphisms in host susceptibility to or protection against tuberculosis (TB) in Macedonians. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis(Panstwowe Wydawnictwo Naukowe, 2008);