Duration of Anticoagulation Therapy in Patients with Genetic Inherited Thrombophilia.

Genetic factors play an important role in deep vein thrombosis (DVT). The duration of anticoagulation therapy in patients with verified genetic inheritance and previous events of DVT is still questionable. We present three cases of siblings (two brothers and one sister) with verified Venous thromboembolism (VTE) and genetic inheritance.

Leptin, Obesity Parameters, and Atopy Among Children with Asthma.

Leptin, as a major adipokine, positively correlates with the body's fat, while atopy is an important feature in the development of childhood asthma. We aimed to evaluate the relationship between leptin, parameters of obesity, and atopy in children with asthma. The study included 112 children (73 boys, 39 girls, mean age 11.

The Gamma Gap Predicts All-Cause Mortality in Chronic Dialysis Patients.

Introduction: The gamma gap (γ-gap) represents the total serum protein concentration minus the albumin concentration. The main aim of this study was to test whether the gamma gap is a predictor of mortality and whether it is associated with other predictors of mortality in chronic hemodialysis patients (CHPs).

Materials And Methods: We studied a cohort of 100 CHPs with a mean age of 59 ± 12.

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

De novo variants in the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. This condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical signs, including intellectual disability (ID), developmental delay (DD), seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies. Currently, 18 cases have been reported in the literature and for only 15 of them a clinical description is available.

First insights into the genetics of 21-hydroxylase deficiency in the Roma population.

Background: 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder with an incidence of 1:10,000-1:20,000 and is the result of various mutations in the CYP21A2 gene. 21OHD has been described in many different populations, but it has not been studied in Roma individuals so far. The aim of the study was to analyse the genotype in Roma patients with 21OHD and the prevalence of the disease in the Roma population of North Macedonia.

HLA profile of the Macedonian, Albanian and Macedonian Muslim donors in the Macedonian Bone Marrow Donor Registry.

The aim of this study was to determine the HLA allele and haplotype frequencies of the volunteer donors from the Macedonian Bone Marrow Donor Registry (MBMDR). We analyzed 1541 donors, from different nationalities and presented the HLA allele and haplotype frequencies for Macedonian, Albanian and Macedonian Muslims, most numerous nationalities in MBMDR. Difference between the three groups was observed for allele frequencies in HLA-C and HLA-DRB1 loci.

HLA profile of the donors in the Macedonian Bone Marrow Donor Registry.

The importance of HLA alleles in the process of haematopoietic stem cell transplantation, especially the process of unrelated donor search, is enormous. Macedonian Bone Marrow Donor Registry was established in 2010 and has registered volunteer donors from different nationalities that live in the Republic of Macedonia. The aim of this study was to determine the HLA allele and haplotype frequencies of the volunteer donors from the Macedonian Bone Marrow Donor Registry and to compare this results with the Macedonians from a family study.

Genetics in Macedonia-Following the international trends.

Genetics in Macedonia-Following the international trends.

HLA-A, -B, -C and -DRB1 allele and haplotype frequencies in the Macedonian population based on a family study.

Aim: The aim of this study was to determine HLA allele and 2-, 3- and 4-loci haplotype frequencies in a sample from Macedonian population with defined haplotypes based on family history.

Material And Methods: We analysed 286 unrelated individuals with Macedonian origin, parents of patients who needed stem cell transplantation, in the period of 01.01.

FC gamma receptor polymorphisms in patients with immune thrombocytopenia.

Introduction: Immune thrombocytopenia (ITP) is an autoimmune blood disease of unknown etiology. The aim of our study was to investigate a possible role of FCGR2A and FCGR3A polymorphisms in the development of primary ITP.

Methods: We analyzed 125 adult patients with ITP and 120 healthy controls.

Total IgE Distribution in Food Allergy Suspected Patients in Republic of Macedonia (2001-2011).

Background: IgE may be considered the hallmark of allergic disorders. It is easily detected in serum and can be measured as total IgE and as allergen-specific IgE. In fact, the serum IgE assay is used to diagnose an allergy.

Distribution of 22 cytokine gene polymorphisms in Roma from the Republic of Macedonia.

The aim of this study was to analyze 22 cytokine polymorphisms in the Roma population from the Republic of Macedonia. The Roma population consists of 77 healthy unrelated individuals, residents of different geographical regions of the Republic of Macedonia (Skopje, Gostivar, and Kochani). Blood samples were collected after obtaining written consent.

Killer cell immunoglobulin-like receptor genes in four human West Nile virus infections reported 2011 in the Republic of Macedonia.

West Nile virus (WNV) is a neurotropic, arthropod-borne flavivirus that is maintained in an enzootic cycle between mosquitoes and birds, but can also infect and cause disease in horses and humans. The aim of this study was to examine KIR gene polymorphisms by determining the frequencies of 16 KIR genes and pseudogenes and KIR genotypes in Macedonian patients with West Nile virus infection, and to compare with healthy Macedonians. The studied sample consists Republic of Macedonia, hospitalized at the University Clinic of Infective Diseases between September 2011 and October 2011, and reported through WHO.

Distribution of killer cell immunoglobulin-like receptor genes in Roma from Republic of Macedonia.

The aim of this study was to analyze Killer Ig-Like Receptor (KIR) gene polymorphisms in Roma people from Republic of Macedonia. The studied sample consists of 103 healthy unrelated individuals, aged 20-45 years. All individuals are of Roma origin, residents of different geographical regions (Gostivar, Skopje, and Kochani).

Association of 22 cytokine gene polymorphisms with tuberculosis in Macedonians.

Objective: To examine the possible role of 22 cytokine gene polymorphisms in host susceptibility to or protection against tuberculosis (TB) in Macedonians.

Method: 301 healthy unrelated individuals and 75 patients with pulmonary TB were studied. Cytokine genotyping was performed by PCR with sequence-specific priming (PCR-SSP) (Heidelberg kit).

Association between 22 cytokine gene polymorphisms and dilated cardiomyopathy in Macedonian patients.

Background: Inflammation is an important component in the pathogenesis of many cardiovascular diseases and one of the commonest mechanisms in cardiomyopathy. There have been several studies on the cytokine polymorphism and dilated cardiomyopathy (DCM), but the results obtained were contradictory.

Aim: To examine a possible role of 22 cytokine gene polymorphisms in host susceptibility to or protection against DCM in Macedonians.

Investigation of SERPINE1 genetic polymorphism in Macedonian patients with occlusive artery disease and deep vein thrombosis.

Background: Raised SERPINE1 plasma levels are related to a 1-bp guanine deletion/insertion (4G5G) polymorphism in the promoter of the SERPINE1 (plasminogen activator inhibitor 1 - PAI1) gene. Evidence suggested that the plasma levels of SERPINE1 modulate the risk of coronary artery disease; furthermore, that the 4G5G polymorphism affects the expression of the SERPINE1 gene.

Aim: To analyse association of SERPINE1 polymorphism with occlusive artery disease (OAD) and deep venous thrombosis (DVT) in Macedonians in order to investigate its role as a part of candidate genes in different vascular diseases in Macedonians.

Distribution of killer cell immunoglobulinlike receptors in the Macedonian population.

The aim of this study was to analyze killer immunoglobulinlike receptor (KIR) gene polymorphism in the Macedonian population. The study sample consists of 214 healthy unrelated individuals, aged 20-35 years. All individuals are of Macedonian origin and nationality, and residents of different geographic regions.

Family analysis of immunoglobulin classes and subclasses in children with autistic disorder.

Autistic disorder is a severe neurodevelopment disorder characterized by a triad of impairments in reciprocal social interaction, verbal and nonverbal communication, and a pattern of repetitive stereotyped activities, behaviours and interests. There are strong lines of evidence to suggest that the immune system plays an important role in the pathogenesis of autistic disorder. The aim of this study was to analyze quantitative plasma concentration of immunoglobulin classes, and subclasses in autistic patients and their families.

Association of 22 cytokine gene polymorphisms with rheumatoid arthritis in population of ethnic Macedonians.

To examine the possible role of 22 cytokine gene polymorphisms in host susceptibility to or protection against RA in Macedonians. In this study, 301 healthy unrelated individuals and 85 patients with RA were studied. Cytokine genotyping was performed by PCR with sequence-specific priming (PCR-SSP) (Heidelberg kit).

Distribution of the 22 cytokine gene polymorphisms in healthy Macedonian population.

Background: Distribution of cytokine gene polymorphisms may vary significantly among different ethnic groups, and eventually contribute to observed differences in disease frequencies.

Objectives: To genotype 22 cytokine polymorphisms in the Macedonian population. The Macedonian population consists of 301 healthy unrelated individuals.

Association of cytokine gene polymorphisms with chronic obstructive pulmonary disease in Macedonians.

The aim of this study was to examine the association of 22 cytokine gene polymorphism in Macedonians with chronic obstructive pulmonary disease (COPD). The sample of the population comprised of 301 normal respondents and 62 patients with COPD. Cytokine genotyping was performed by polymerase chain reaction with sequence-specific priming (PCR-SSP).