Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report.

Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, deletions, duplications, and complex structural rearrangements. We aim to present our experience with OGM at the Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slovenia.

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.

Purpose: In recent years, many genes have been associated with male infertility; however, testing of monogenic forms has not yet been clinically implemented in the diagnosis of severe forms of idiopathic male infertility, as the diagnostic utility has not been established yet. The aim of this study was therefore to answer if the implementation of genetic testing for monogenic forms of male infertility could contribute to the clinical diagnosis of men with severe forms of idiopathic male infertility.

Materials And Methods: Based on the ClinGene curation protocol, we defined a panel of genes with sufficient evidence for the involvement with severe male infertility.

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.

Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy (HCM). However, information on founder variants in non-sarcomeric protein genes, such as FHOD3, which have only recently been associated with HCM, remains scarce. In this study, we conducted a retrospective analysis of exome sequencing data of 134 probands with HCM for recurrent pathogenic variants.

Polymorphisms of and thrombophilic genes: risk for recurrent pregnancy loss.

Background: Recurrent pregnancy loss (RPL) affects up to 5% of pregnancies, but with no consensus on the definition. Inherited thrombophilia has been postulated as a risk factor for RPL. The aim of this study was to investigate the association of RPL with polymorphisms of five genes that influent the coagulation and fibrinolysis.

Association of ATG16L1 rs2241880 and TP53 rs1042522 with characteristics and course of diffuse large B-cell lymphoma.

Background: Diffuse large B-cell lymphoma (DLBCL) represents the most frequent lymphoma in adults. Prognosis for DLBCL patients may be evaluated through the most prominent clinical/laboratory parameters or pattern of gene expression. In order to improve prognostic/prediction scores or provide new therapeutic targets, novel genetic markers are needed.

Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy.

Objective: The objective was to investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, crucial for DNA methylation, and risk of offspring aneuploidy.

Methods: MTHFR gene polymorphisms 677C>T and 1298A>C were determined by polymerase chain reaction based method, in 163 women with offspring aneuploidy and 155 women with healthy children. Five genetic models were used to assess risk, according to the type of aneuploidy and the age of women at conception.

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages.

In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and Herzegovina, Croatia, Montenegro, North Macedonia, Serbia, and Slovenia). The study was conducted from June to September 2021. One representative from each country was invited to collect and interpret the data for all medical faculties in their respective country.

Association of cytokine gene polymorphisms and risk factors with otitis media proneness in children.

Unlabelled: In order to assess the association between gene polymorphisms and otitis media (OM) proneness, tumor necrosis factor alpha (TNFA) -308, interleukin (IL) 10-1082 and -3575, IL6 -597, IL2 -330, and CD14 -159 genotyping was performed in 58 OM-prone children and 85 controls who were exposed to similar number and frequency of environmental and host risk factors. The frequencies of genotypes (wild type vs. genotypes containing at least one polymorphic allele) were not significantly different between groups, except for IL10 -1082.

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe.

Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre.

Correlation between cytokine levels in nasal fluid and scored clinical parameters in patients with nasal polyposis.

The aim of this study was to compare the cytokine levels in nasal fluid in subjects with nasal polyposis (NP) and co-morbid asthma and NP patients without asthma and to correlate these levels with clinical parameters of severity of disease. Forty NP patients (20 asthmatic and 20 nonasthmatic) were enrolled. Nasal secretion samples were collected from nasal cavities of all 40 subjects.

Proinflammatory cytokine levels in nasal fluid as indicators of severity of nasal polyposis.

The aim of this prospective study was to evaluate whether cytokine levels in nasal secretions may be clinical parameters of severity of nasal polyposis. Forty nasal polyp patients (20 asthmatic and 20 nonasthmatic) requiring surgical treatment were included. Nasal secretion samples were collected from nasal cavities of all 40 subjects.

Influence of allergy on the immunomodulatory and clinical effects of long-term low-dose macrolide treatment of nasal polyposis.

Aims: Cytokine levels in nasal secretions reflect the inflammatory status of the nasal and paranasal sinus mucosa and the development of mucosal disease. The results of previous investigations suggest that macrolide antibiotics can be effective in treatment of chronic rhinosinusitis and nasal polyposis. The aim of this prospective study was to compare the immunomodulatory and clinical effects of long-term low-dose macrolide treatment of nonatopic and atopic patients with nasal polyposis.

Correlation between cytokine levels in nasal fluid and eosinophil counts in nasal polyp tissue in asthmatic and non-asthmatic patients.

Background/aims: Concentrations of mediators in nasal secretions could reflect the inflammatory status of the nasal mucosa and evolution of sinus disease. So, the aim of our study was to evaluate local immune reaction by measuring crucial Th1, Th2 and inflammatory cytokines in nasal fluid samples of patients with nasal polyps (NP), and to correlate them to clinical, radiological findings and to the degree of eosinophil infiltration of polyp tissue. Therefore, in our study we compared the cytokine levels in nasal fluid of asthmatic and non-asthmatic patients with nasal polyposis, the eosinophil counts in NP tissues of these patients, and we correlated cytokine levels with eosinophil counts in NP tissue specimens.

Cytokine levels in nasal secretions in asthmatic and nonasthmatic patients with nasal polyposis.

Objectives: The aim of this study was to compare the cytokine levels of subjects with nasal polyps (NP) and comorbid asthma and NP patients without asthma.

Patients And Methods: Thirty patients with NP (15 asthmatic and 15 nonasthmatic) were included in this prospective study. Nasal secretion samples were collected from the nasal cavities of all subjects.