Aleksandar J. Dimovski

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Reviewing the past and the present status of personalized medicine, the hope and promise from several years ago was critically compared to what is really achieved to tailor the drug treatment according to the patient's individuality. The basis for consideration is what we know about the variant of the disease the patient is suffering from, and about the(More)
The ABCB1 gene encodes the P-glycoprotein (Pgp) protein, which is thought to transport various antiepileptic drugs. The single nucleotide polymorphism (SNP) (C3435T) in exon 26 of this gene correlates with the altered expression levels of P-glycoprotein, range of drug response and clinical conditions. In order to investigate the influence of this(More)
BACKGROUND Although age-related loss of chromosome Y (LOY) in normal hematopoietic cells is a well-known phenomenon, the phenotypic consequences of LOY have been elusive. However, LOY has been found in association with smoking, shorter survival and higher risk of cancer. It was suggested that LOY in blood cells could become a predictive biomarker of male(More)
The Atlanta type of hereditary persistence of fetal hemoglo-bin (HPFH) is characterized by a mild elevation of Hb F (2% to 5% in heterozygotes), almost exclusively of the ' y type (more than 90%). Gene-mapping analysis has identified this condition as a-'y-'y-arrangement with the-158 (C-+ T) substitution in the promoters of both ' y genes. We have(More)
Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood. Method. Review of the case characteristics and literature review. Results. We report on a 20-year-old man presenting with dyspnea, fatigue, fever, and(More)
Reviewing the past and the present status of personalized medicine, the hope and promise from several years ago was critically compared to what is really achieved to tailor the drug treatment according to the patient's individuality. The basis for consideration is what we know about the variant of the disease the patient is suffering from, and about the(More)
AIM To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point(More)
We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1A and PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRRS). The patient presented dysmorphic features as well as developmental delay at the age of 5 months.(More)
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