Faculty of Medicine
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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, 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, 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); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Cytokine gene polymorphisms in population of ethnic Macedonians(2005-08); ;