Faculty of Medicine
Permanent URI for this communityhttps://repository.ukim.mk/handle/20.500.12188/14
Browse
3 results
Search Results
- 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,