Dobrevski, Boban

Preferred name
Dobrevski, Boban
Official Name
Dobrevski, Boban
Main Affiliation
Email
boban.dobrevski@medf.ukim.edu.mk

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    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)
    Savevska, Tamara
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    Stamatovska, Kristina
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    Otljanska, Magdalena
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    Arnaudova, Frosina
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    Incidence of β-lactoglobulin intolerance among lactose intolerance suspected population and diagnostic approach
    (Macedonian Pharmaceutical Association, Ss. Cyril and Methodius University in Skopje, Faculty of Pharmacy, 2022-12-31)
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    Zhivikj, Zoran
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    Milk and dairy products have high nutritional value due to its protein, vitamin, mineral and fatty acid content (FAO, 2013). However, regular usage of these products in some individuals may result in manifestation of adverse reactions, such as lactose intolerance (LI) and cow`s milk protein intolerance (CMPI). LI is a syndrome with primarily gastrointestinal symptoms as a result of lactase deficiency in the intestinal mucosa and lactose malabsorption. It can be genetically driven, known as primary LI, where homozygous LCT-13910C and LCT-22018G variants are coding low lactase activity, or secondary LI due to damaged mucosa. CMPI is an immune mediated reaction to milk`s proteins causing abdominal pain, diarrhea, vomitus, nausea etc. Since LI is highly prevalent in the population, while clinical features of LI and CMPI are similar, the last is often misdiagnosed. Treatment of both conditions is mainly based on food restrictions excluding lactose or cow`s milk proteins, so relevant diagnosis is important in successful disease management (Di Constanzo et al., 2019). The aim of this study was to determine the incidence of β-lactoglobulin intolerance (the most frequent form of CMPI) in LI suspected population and to identify diagnostic tools that can help to differentiate CMPI and LI.
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    DETECTION OF A RARE MUTATION IN A NOONAN SYNDROME SUSPECTED PATIENT: A CASE REPORT
    (Croatian Society of Biologists in Health Care (CROBIH), 2020-04)
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    Milanovski Gorjan
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    Noonan syndrome (NS) is a genetic autosomal dominant condition, caused by mutations in PTPN11 and other genes. The aim of this report is to highlight a finding of a rare mutation in the RAF1 gene in a six-year-old child evaluated for Noonan Syndrome. An Ampliseq Research Panel covering A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SPRED1 genes was used on the Ion Torrent platform. Out of 54 variants detected, a single nucleotide missense mutation c.483T>G in the RAF1 gene was classified as likely pathogenic, based on a single previous submission to Clinvar. Further investigations may shed light on the possible role of this variant in the pathogenesis of Noonan Syndrome and other RASopathies.
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    The role of immunogenetics in COVID-19
    (2022)
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    T. Brnjarchevska-Blazhevska
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    T. Savevska
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