Semilobar Holoprosencephaly Caused by a Novel and De Novo Pathogenic Variant.

Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable.

Effect of Supplemental Antioxidant-Based Therapy on the Oxidative Stress Level in COVID-19 Patients.

: COVID-19 is a disease in several stages starting with virus replication to dysregulation in immune system response, organ failure and recovery/death. Our aim was to determine the effect of Ganoderma lucidum, lycopene, sulforaphane, royal jelly and resveratrol extract on markers of oxidative stress, inflammation, routine laboratory analyses and duration of symptoms in COVID-19 patients. : The oxidative stress parameters and interleukines 6 and 8 (IL-6, IL-8), tumor necrosis factor alpha (TNF-α) were determined in order to estimate the antioxidant and the anti-inflammatory effect of the product using a spectrophotometric and a magnetic bead-based multiplex assay in serum of 30 patients with mild form of COVID-19.

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.

Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.

We present a case with congenital syndromic asplenia associated with immune deficiency, glandular hypospadias and cryptorchidism. Genetic analysis identified a likely pathogenic de novo variant in NR2F2. Pathogenic NR2F2 variants have been associated with other congenital anomalies affecting the central axis, such as congenital heart disease and diaphragmatic hernia, which were not part of our patient's clinical features.

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.

Relationship between Vitamin D, Inflammation and Lung Function In Patients with Severe Uncontrolled Asthma.

Background: Recently epidemiological studies showed that low vitamin D is linked to airway hyperresponsiveness, decreased lung function, poor asthma control, and steroid-resistant asthma.

Aim: We investigated the relationship between Vitamin D, inflammation with circulating IL-33 and lung function in 30 patients with severe uncontrolled asthma.

Materials And Methods: The study included 30 patients with severe uncontrolled asthma.

Vascular Genetic Variants and Ischemic Stroke Susceptibility in Albanians from the Republic of Macedonia.

Background: Acute first-ever ischemic stroke (FIS) is a heterogeneous, polygenic disorder. The contribution of vascular genetic variants as inherited causes of ischemic stroke has remained controversial.

Aim: To examine the association of genetic variants in vascular factors with the occurrence of FIS.

Genomic Imprinting.

Background: Genomic imprinting is the inheritance out of Mendelian borders. Many of inherited diseases and human development violates Mendelian law of inheritance, this way of inheriting is studied by epigenetics.

Aim: The aim of this review is to analyze current opinions and options regarding to this way of inheriting.

How to Verify Plagiarism of the Paper Written in Macedonian and Translated in Foreign Language?

Aim: The aim of this study was to show how to verify plagiarism of the paper written in Macedonian and translated in foreign language.

Material And Methods: Original article "Ethics in Medical Research Involving Human Subjects", written in Macedonian, was submitted as an assay-2 for the subject Ethics and published by Ilina Stefanovska, PhD candidate from the Iustinianus Primus Faculty of Law, Ss Cyril and Methodius University of Skopje (UKIM), Skopje, Republic of Macedonia in Fabruary, 2013. Suspected article for plagiarism was published by Prof.

The Effect of Combined Therapy ICS/LABA and ICS/LABA plus Montelukast in Patients with Uncontrolled Severe Persistent Asthma Based on the Serum IL-13 and FEV1.

Background: IL-13 is one of many cytokines responsible for the chronic inflammation of asthma.

Aim: The aim of this study was to determine the effect of combined therapy ICS/LABA and ICS/LABA plus Montelukast in patients with uncontrolled severe persistent asthma by analyzing of serum IL-13 and FEV1 before the treatment and after 6 months of therapy.

Material And Methods: In study we included two groups.

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.

Novel RET mutations in macedonian patients with medullary thyroid carcinoma: genotype-phenotype correlations.

Medullary thyroid carcinomas (MTCs) are rare neoplasms comprising 2-10% of all thyroid malignnancies. More than 75% are sporadic tumors and the remainder is familial and MEN2 related. Both sporadic and syndromic MTCs frequently show mutations in the RET proto-oncogene.

Current Scientific Impact of Ss Cyril and Methodius University of Skopje, Republic of Macedonia in the Scopus Database (1960-2014).

Aim: The aim of this study was to analyze current scientific impact of Ss Cyril and Methodius University of Skopje, Republic of Macedonia in the Scopus Database (1960-2014).

Material And Methods: Affiliation search of the Scopus database was performed on November 23, 2014 in order to identify published papers from the Ss Cyril and Methodius University of Skopje (UC&M), Republic of Macedonia. A total number of 3960 articles (3055 articles from UC&M, 861 articles from Faculty of Medicine, UC&M, and 144 articles from Faculty of Pharmacy, UC&M) were selected for analysis (1960-2014).

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.

Gene polymorphisms of 22 cytokines in Macedonian children with atopic dermatitis.

Atopic dermatitis (AD) is a common chronically relapsing skin disease associated with abnormal cytokine production, and activation of T-helper 2 cells. The aim if this study was to determine whether cytokine gene polymorphisms might influence the development of AD. Single nucleotide polymorphisms in the genes for I-L1alpha, IL-1beta, IL-1R, IL-2, IL-4, IL-6, IL-10, IL-12, TGF beta, TNF and IFNgamma were investigated by PCR and sequence specific primers in Macedonian patients with AD (67 children, age of 6 months to 5 years) and 301 normal unrelated individuals.

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).

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).

Association of cytokine gene polymorphisms with bronchial asthma in Macedonians.

Bronchial asthma is a multifactorial disease whereby both environmental and genetic factors contribute to its aetiology and/or clinical severity. The aim of this study was to examine the association of 22 cytokine gene polymorphism in the Macedonian population with bronchial asthma (BA). The sample of the population comprised of 301 normal unrelated individuals and 74 patients with BA.