Association of 25(OH)-Vitamin D3 Serum Concentrations and Vitamin D Receptor Gene Variants with the Risk of Idiopathic Spontaneous Preterm Birth in the Croatian Population.

Preterm birth (PTB) forms a heterogeneous group with possible genetic predisposition. 25(OH)-vitamin D3 plays a significant role during implantation, placentation, and the maintenance of normal pregnancy. The aim of our research was to examine whether FokI, Cdx2, and ApaI gene variants, as well as serum concentrations of 25-hydroxy25(OH)-vitamin D3 in women and their newborns, might be predisposing factors for idiopathic spontaneous preterm birth.

Protective Effect of () Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study.

This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes (), (), , (), (), and () to assess whether these genetic variants contribute to the risk of spontaneous preterm birth (sPTB). A case-control study was conducted involving 573 women from Croatia and Slovenia: 248 with sporadic sPTB (positive personal and negative family history of sPTB before 37 weeks' gestation), 44 with familial sPTB (positive personal and family history of sPTB before 37 weeks' gestation), and 281 control women. The analysis of rs146756455, rs2963463, rs2946169, rs201450565, rs188343966, and rs1800629 SNPs was performed using TaqMan real-time PCR.

Decoding the Epigenetics of Infertility: Mechanisms, Environmental Influences, and Therapeutic Strategies.

Infertility is a complex condition caused by a combination of genetic, environmental, and lifestyle factors. Recent advances in epigenetics have highlighted the importance of epigenetic changes in fertility regulation. This review aims to provide a comprehensive overview of the epigenetic mechanisms involved in infertility, with a focus on DNA methylation, histone modification, and non-coding RNAs.

GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.

Parkinson's disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities. It is likely that both genetic and environmental factors, along with age, contribute to the cause. However, there is no comprehensive guideline for genetic testing for Parkinson's disease, and more research is needed to understand genetic variations in different populations.

Non-genetic physicians' knowledge, attitudes and behavior towards medical genetics.

To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and specialists, who encounter the highest number of patients with specific genetic disorders, in their everyday practice. The cross-sectional study involved 182 nongenetic residents and specialists in the Republic of Croatia, who completed a validated online questionnaire anonymously and voluntarily. The questionnaire consisted of five groups of questions: general information, knowledge, behavior in practice, attitude toward genetic testing, and additional education in medical genetics.

Epidemiological analyses of African swine fever in the European Union: (September 2020 to August 2021).

This report provides a descriptive analysis of the African swine fever (ASF) Genotype II epidemic in the affected Member States in the EU and two neighbouring countries for the period from 1 September 2020 to 31 August 2021. ASF continued to spread in wild boar in the EU, it entered Germany in September 2020, while Belgium became free from ASF in October 2020. No ASF outbreaks in domestic pigs nor cases in wild boar have been reported in Greece since February 2020.

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.

Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth.

Despite considerable effort aimed at decreasing the incidence of spontaneous preterm birth (SPTB), it remains the leading cause of infant mortality and morbidity. The aim of this study was to evaluate maternal LINE-1 DNA methylation (DNAm), along with polymorphisms and factors proposed to modulate DNAm, in patients who delivered early preterm. This case-control study included women who delivered spontaneously early preterm (23-33 weeks of gestation), and control women.

Epidemiological analysis of African swine fever in the European Union (September 2019 to August 2020).

An update on the African swine fever (ASF) situation in the 10 affected Member States (MS) in the EU and in two neighbouring countries from the 1 September 2019 until the 31 August 2020 is provided. The dynamics of the proportions of PCR- and ELISA-positive samples since the first ASF detection in the country were provided and seasonal patterns were investigated. The impact of the ASF epidemic on the annual numbers of hunted wild boar in each affected MS was investigated.

A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report.

Y‑autosome translocations are relatively uncommon in humans, with t(Y;1) stated to be even rarer. On the contrary, pericentric inversion 9 is the most commonly seen inversion  of chromosome . Although considered to have no significant effect on male fertility, the literature reporting on reproductive risks for both aberrations remains controversial.

The impact of needs-based education on the change of knowledge and attitudes towards medical genetics in medical students.

In this research we aimed to (1) develop and validate a new questionnaire examining attitudes and knowledge towards medical genetics, (2) examine the knowledge and attitudes towards medical genetics in students of the Medical Faculty in Rijeka, Croatia and (3) evaluate the impact of education from the mandatory course Medical Genetics on the change of knowledge and attitudes. The study was conducted on 191 fifth- and sixth-year students of the Integrated Undergraduate and Graduate University Study of Medicine in the academic year 2019/2020. Students completed the validated online questionnaire anonymously and voluntarily.

Vitamin D receptor polymorphisms in spontaneous preterm birth: a case-control study.

Aim: To evaluate the association between the FokI (rs2228570), ApaI (rs7975232), Bsml (rs1544410), TaqI (rs 731236), and Cdx2 (rs11568820) single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene and spontaneous preterm birth (SPTB), as well as their effect on clinical characteristics of women with SPTB and their newborns.

Methods: This case-control study enrolled women who gave birth at the Department of Obstetrics and Gynecology, University Medical Center Ljubljana between 2010 to 2019. Cases were 118 women with spontaneous initiation of PTB after natural conception and 119 controls with a term singleton delivery after an uncomplicated pregnancy.

DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status.

Aim: To evaluate the association between spontaneous preterm birth (SPTB) and DNA methyltransferase (DNMT)1, 3A, 3B, and 3L gene polymorphisms, and their contribution to the clinical characteristics of women with SPTB and their newborns.

Methods: This case-control study, conducted in 2018, enrolled 162 women with SPTB and 162 women with term delivery. DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, DNMT3B rs2424913, and DNMT3L rs2070565 single nucleotide polymorphisms were genotyped using polymerase chain reaction and restriction fragment length polymorphism methods.

Combination of QF-PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage.

Background: Our aim was to conduct a comprehensive genetic evaluation using the combination of QF-PCR (quantitative fluorescence polymerase chain reaction) and aCGH (array comparative genomic hybridization) for the detection of the frequency and type of chromosome aberrations in recurrent miscarriage (RM) in the clinical setting.

Methods: This retrospective study was conducted on 73 first-trimester products of conception (POC) between September 2014 and February 2017. The POCs were collected from 73 women with at least one previous miscarriage and analyzed for chromosomal anomalies using QF-PCR and aCGH as part of the routine clinical evaluation.

Genetic variation in the maternal vitamin D receptor FokI gene as a risk factor for recurrent pregnancy loss.

Purpose: Recurrent pregnancy loss (RPL) is a reproductive disorder defined as the loss of two or more pregnancies before 24 weeks of gestation. Despite the fact that several mechanisms have been previously described for the pathogenesis of RPL, the causes of ∼50% of cases remain unknown. However, recent studies indicate association of vitamin D deficiency with adverse pregnancy outcome, including RPL.

Matrix metalloproteinase and tissue inhibitors of metalloproteinases gene polymorphisms in disorders that influence fertility and pregnancy complications: A systematic review and meta-analysis.

Matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) gene polymorphisms have been extensively evaluated as predisposing factors to human reproductive disorders. However, the evidence available is inconsistent. Therefore, we performed a systematic review and meta-analysis to provide the first comprehensive synopsis of case-control studies that investigated the association of MMP and TIMP gene polymorphisms with disorders that influence fertility and pregnancy complications.

A Single Nucleotide Polymorphism of DNA methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion.

Problem: Aberrant DNA methylation has been suggested as a potential cause of recurrent spontaneous abortion (RSA). Considering the growing evidence on the important roles of DNA methylation in gametogenesis and early pregnancy, we investigated the potential association of DNA methyltransferase gene polymorphisms (DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686) with RSA in Slovenian reproductive couples.

Method Of Study: A total of 146 couples with ≥3 consecutive spontaneous abortions and 149 control women and men with ≥2 normal pregnancies were included.

Functional single nucleotide polymorphisms of matrix metalloproteinase 7 and 12 genes in idiopathic recurrent spontaneous abortion.

Purpose: The aim of this study was to investigate the potential association of matrix metalloproteinase 7 (MMP7) -181 A/G and MMP12 -82 A/G functional single nucleotide polymorphisms (SNP) with idiopathic recurrent spontaneous abortion (IRSA) in Slovenian reproductive couples.

Methods: A case-control study was conducted on 149 couples with 3 or more consecutive idiopathic spontaneous pregnancy loses and 149 women and men with at least 2 live births and no history of pregnancy complications. Genotyping of MMP7 -181 A/G and MMP12 -82 A/G SNPs was performed using polymerase chain reaction and restriction fragment length polymorphism methods.

Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion.

Objectives: 1) To perform the first comprehensive systematic review of genetic association studies (GASs) in idiopathic recurrent spontaneous abortion (IRSA); 2) to analyze studies according to recurrent spontaneous abortion (RSA) definition and selection criteria for patients and control subjects; and 3) to perform meta-analyses for the association of candidate genes with IRSA.

Design: Systematic review and meta-analysis.

Setting: Not applicable.

Insertion/deletion polymorphism in intron 16 of ACE gene in idiopathic recurrent spontaneous abortion: case-control study, systematic review and meta-analysis.

The insertion/deletion (I/D) polymorphism in intron 16 of the angiotensin I-converting enzyme gene (ACE) has been extensively studied as a predisposing factor for idiopathic recurrent spontaneous abortion (IRSA). A case-control study including 149 women with ≥3 spontaneous abortions and 149 controls was performed to test the association of ACE I/D polymorphism with IRSA. A systematic review was conducted of previous case-control studies, with strict selection criteria for meta-analyses.

The -2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortion.

Purpose: The vascular endothelial growth factor A (VEGFA) is crucial for normal vasculogenesis and angiogenesis during pregnancy, and alterations in the VEGFA gene expression were detected in women with idiopathic recurrent spontaneous abortion (IRSA) and spontaneously aborted conceptuses. Our aim was to evaluate whether there is an association between the functional -2549 insertion/deletion (I/D) polymorphism in the promoter region of the VEGFA gene and IRSA in reproductive couples.

Methods: We performed a case-control study involving 149 women and their 140 partners with three or more IRSA and 149 control women and men.

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.