Prevalence, diagnostic delay and economic burden of endometriosis and its impact on quality of life: results from an Eastern Mediterranean population.

Background: There are limited data on endometriosis from the Eastern Mediterranean region. This study for the first time estimates the prevalence and impact of endometriosis on women in Northern Cyprus, an under-represented region in Europe.

Methods: Cyprus Women's Health Research Initiative, a cross-sectional study recruited 7646 women aged 18-55 in Northern Cyprus between January 2018 and February 2020.

Predictors and trends of Caesarean section and breastfeeding in the Eastern Mediterranean region: Data from the cross-sectional Cyprus Women's Health Research (COHERE) Initiative.

Introduction: Caesarean section (C-section) is a life-saving procedure when medically indicated but unmet need and overuse can add to avoidable morbidity and mortality. It is not clear whether C-section has a negative impact on breastfeeding and there is limited data available on rates of C-section or breastfeeding from Northern Cyprus, an emerging region in Europe. This study aimed to investigate prevalence, trends and associations of C-section and breastfeeding in this population.

The Cyprus Women's Health Research (COHERE) initiative: normative data from the SF-36v2 questionnaire for reproductive aged women from the Eastern Mediterranean.

Purpose: Describe the health-related quality of life for a representative cohort of women aged 18-55 in Northern Cyprus.

Methods: We utilised the SF-36-Health-Survey-version-2 (SF-36v2) questionnaire as part of the COHERE Initiative study to calculate the eight physical and mental subscale scores, as well as the two overall summary measures for physical and mental health, where we present results using Cyprus-specific scoring as well as scores based on the test developers' algorithms. We examined associations between sociodemographic characteristics for both scores.

Protocol for the Cultural Translation and Adaptation of the World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonization Project Endometriosis Participant Questionnaire (EPHect).

Endometriosis affects 10% of women worldwide and is one of the most common causes of chronic pelvic pain and infertility. However, causal mechanisms of this disease remain unknown due to its heterogeneous presentation. In order to successfully study its phenotypic variation, large sample sizes are needed.

CRISPR and KRAS: a match yet to be made.

CRISPR (clustered regularly interspaced short palindromic repeats) systems are one of the most fascinating tools of the current era in molecular biotechnology. With the ease that they provide in genome editing, CRISPR systems generate broad opportunities for targeting mutations. Specifically in recent years, disease-causing mutations targeted by the CRISPR systems have been of main research interest; particularly for those diseases where there is no current cure, including cancer.

Host Genetics at the Intersection of Autoimmunity and COVID-19: A Potential Key for Heterogeneous COVID-19 Severity.

COVID-19 presentation is very heterogeneous across cases, and host factors are at the forefront for the variables affecting the disease manifestation. The immune system has emerged as a key determinant in shaping the outcome of SARS-CoV-2 infection. It is mainly the deleterious unconstrained immune response, rather than the virus itself, which leads to severe cases of COVID-19 and the associated mortality.

Neurotransmitter receptor genotypes associated with mental and behavioral disorders.

Aim: Investigation of association studies within the field of mental and behavioral disorders is of value given their complex molecular etiology including epistatic interactions of multiple genes with small effects.

Materials & Methods: Utilizing biomedical text mining, associations are uncovered for all mental and behavioral conditions listed in Diagnostic and Statistical Manual of Mental Disorders Text Revision. Specifically, a computational pipeline is designed to retrieve neurotransmitter receptor variations from biomedical literature with a text mining approach, where unique polymorphisms are also mined.

KRAS AND THE REALITY OF PERSONALIZED MEDICINE IN NON-SMALL CELL LUNG CANCER.

Lung cancer is the leading cause of mortality among all cancer types, worldwide. Latest available global statistics of World Health Organization report 1.59 million casualities in 2012 alone.

Genotype-based prevention of psychosis onset and schizophrenia: a personalized approach in a target population.

Schizophrenia imposes a significant burden on public health, affecting approximately 25 million individuals worldwide and generating an extensive healthcare burden. It is important to consider that the disease onset in schizophrenia stems from gene-environment interactions. Early interventions in order to prevent schizophrenia are of high clinical interest, and this is where personalized healthcare and medicine comes in.

Blood contact properties of ascorbyl chitosan.

Ascorbyl chitosan was synthesized by heating chitosan with ascorbic acid in isopropanol. The products were characterized by FTIR and C-13 NMR spectroscopies, SEM, and elemental analysis. Blood contact properties of ascorbyl chitosans were evaluated.

A new public health genomics model for common complex diseases, with an application to common behavioral disorders.

Aim: In the light of common forms of gene-environment interplay, particularly epigenomics and ecogenetics, the incorporation of envirome data into public health genomics models becomes necessary. Developing and restructuring public health genomics models is essential within the context of common complex diseases.

Materials & Methods: We developed a novel theoretical model integrating a gene-environment interaction paradigm into public health genomics, which integrates four main sources of data: personal genome data, personal envirome data, molecular genetic/genomic evidence and environmental factors implicated in gene-environment interactions underlying common complex disease phenotypes.

Biomedical impact of splicing mutations revealed through exome sequencing.

Splicing is a cellular mechanism, which dictates eukaryotic gene expression by removing the noncoding introns and ligating the coding exons in the form of a messenger RNA molecule. Alternative splicing (AS) adds a major level of complexity to this mechanism and thus to the regulation of gene expression. This widespread cellular phenomenon generates multiple messenger RNA isoforms from a single gene, by utilizing alternative splice sites and promoting different exon-intron inclusions and exclusions.

Is there room for ethics within bioinformatics education?

When bioinformatics education is considered, several issues are addressed. At the undergraduate level, the main issue revolves around conveying information from two main and different fields: biology and computer science. At the graduate level, the main issue is bridging the gap between biology students and computer science students.

Cancer incidence in North Cyprus (1990-2004) relative to European rates.

Cancer incidence in North Cyprus (NC), deemed an interesting epidemiological case due to possible contrasting prevailing factors in relation to South and North Europe (SE and NE), was evaluated for the period 1990-2004. Age standardized rates (ASRs) and average age of incidence (AAI) values were determined for 12 different cancers, separately for males and females. Annual trends were analyzed using linear regression slopes.

An RNA map predicting Nova-dependent splicing regulation.

Nova proteins are a neuron-specific alternative splicing factors. We have combined bioinformatics, biochemistry and genetics to derive an RNA map describing the rules by which Nova proteins regulate alternative splicing. This map revealed that the position of Nova binding sites (YCAY clusters) in a pre-messenger RNA determines the outcome of splicing.

Alternative splicing of mouse transcription factors affects their DNA-binding domain architecture and is tissue specific.

Background: Analyzing proteins in the context of all available genome and transcript sequence data has the potential to reveal functional properties not accessible through protein sequence analysis alone. To analyze the impact of alternative splicing on transcription factor (TF) protein structure, we constructed a comprehensive database of splice variants in the mouse transcriptome, called MouSDB3 containing 461 TF loci.

Results: Our analysis revealed that 62% of these loci in MouSDB3 have variant exons, compared to 29% of all loci.