Faculty of Medicine
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Item type:Publication, Assessement of bone health in adults with cystic fibrosis in the Republic of North Macedonia(Македонско лекарско друштво = Macedonian medical association/De Gruyter, 2022-11); ; The term Cystic Fibrosis Bone Disease (CFBD) is used to describe low BMD and /or fragility fractures in CF patients. Objective: We decided to carry out a bone health screening of adult patients with CF in the Republic of North Macedonia and establish their current status. Material and Methods: We conducted a prospective study which comprised a sample of 30 individuals with CF above the age of 18, of the population of ~50 adults with CF in North Macedonia. The sex, age, height and weight (later converted to BMI kg/m2) were recorded, blood sample analysed for serum levels of calcium, free calcium, phosphate, parathyroid hormone (PTH) and 25(OH)D. We conducted an interview with all subjects regarding additional risk factors. All subjects underwent DXA scan, by measuring the BMD at the lumbar spine and proximal hip. Results: approximately half of the adults with CF have low BMD and about a quarter of them also have osteoporosis. 33,3% of the patients had history of fragility fractures, the mean BMI was lower than the recommended values, vitamin D deficiency was found in 60% and continuous use of glucocorticoids was recorded in 30% of the subjects. Conclusion: Our findings align with those of other studies. The most effective method for evaluating BMD in adult CF patients is DXA scanning and monitoring regularly. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, CYSTIC FIBROSIS MUTATION SPECTRUM IN NORTH MACEDONIA: A STEP TOWARD PERSONALIZED THERAPY(Macedonian Academy of Sciences and Arts / Sciendo, 2019); ; Sukarova-Stefanovska EThe most prevalent “rare” disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem dis ease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple, fast and cost-effective genetic testing approach, also for better management of CF patients, including the administration of novel targeted therapies. Here, we present genetic results of 158 unrelated CF patients from the National CF Registry of the Republic of North Macedonia. Initially, patients were screened for the 11 most common CF mutations. Additional CF muta tions and large deletions/duplications in the CFTR gene were analyzed using commercial kits. If the genotype was undetermined, all CFTR exons were analyzed using Sanger DNA sequencing or next generation sequencing (NGS) (since 2014). The most common CF mutation, c.1521_ 1523del (legacy name F508del), was found with an over all incidence of 75.9%. Additionally, 26 other pathogenic variants and three large deletions were identified in the CFTR gene as a genetic cause of CF. Two of these, c.1070 C>T (p.Ala357Val) and c.2779_2788dup CTTGCTATGG (p.Gly930AlafsTer48), were novel. According to the distri bution and prevalence of the pathogenic variants detected in our patients, a fast and cost-effective method, based on a single base extension was designed as a first-line CF genetic test with a 90.0% detection rate within our population. Furthermore, the knowledge of CFTR mutation classes in our CF patients represents the first step toward personalized therapy for CF in our country. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience(Macedonian Academy of Sciences and Arts / Sciendo, 2021-07); ;