Background and Objectives: Preterm birth (PTB) is a complex condition with various contributing factors, including genetic and epigenetic influences such as DNA methylation. Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in DNA methylation and the remethylation of homocysteine. This study aimed to investigate the association between maternal MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation levels, and the risk of idiopathic spontaneous preterm birth (SPTB) in Caucasian women from Croatia and Slovenia. Materials and Methods: A total of 50 women with SPTB (<34 weeks of gestation) and 50 control women were included in the study. MTHFR polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and LINE-1 DNA methylation levels were quantified using the MethyLight method. Results: The study found no significant differences in MTHFR C677T and A1298C polymorphisms’ genotype or allele frequencies between women with SPTB and controls. Additionally, no statistical significance of LINE-1 DNA methylation was found between the genotypes of the MTHFR polymorphisms analyzed. Conclusions: The study suggests no conclusive association between MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation, and SPTB in Croatian and Slovenian women. Considering prior evidence connecting MTHFR polymorphisms, hyperhomocysteinemia, and PTB, the lack of homocysteine measurements and unassessed impact of folate or vitamin B supplementation limit the conclusions.

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 VDR 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. The patient group consisted of 44 pairs of women with ISPTB and their children, and the control group consisted of 44 pairs of women who delivered at term and their children. At the time of delivery, peripheral blood was collected from every woman, and after newborn delivery, umbilical cord blood was collected. For genotyping of the rs2228570 C/T, rs11568820 G/A, and rs7975232 T/G SNPs, a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was used. Serum concentrations of 25(OH)-vitamin D3 were determined using high-performance liquid chromatography (HPLC). There were no statistically significant differences in the frequencies of VDR genotypes and alleles between women with ISPTB and control women. There was a statistically significant difference in the distribution of VDR Cdx-2 (rs11568820) genotypes between preterm-born children and controls, with the GG genotype and G allele being more prevalent among patients than controls (p < 0.001). There were no statistically significant differences in mean values between women with ISPTB and control women, nor between preterm and full-term newborns, although the 25(OH)-vitamin D3 concentrations in preterm-born children were lower than in controls. Furthermore, there was a statistically significant correlation in 25(OH)-vitamin D3 concentrations between mothers and children both in the patient and in the control groups (b = 0.771, p < 0.001). The results of our study demonstrate a notable association between the VDR Cdx2 gene polymorphism and idiopathic spontaneous preterm birth (ISPTB) in a Caucasian population, but because of the small number of participants, further research is needed.

Editorial: The Importance of Genetic Literacy and Education in Medicine

Unaprjeđenje nastavničkih kompetencija u medicinskoj izobrazbi dio je šireg sustava profesionalnog razvoja djelatnika, poznatog i kao faculty development, odnosno usmjerene strategije visokoškolske ustanove u stjecanju znanja, vještina i stavova za u...

Introduction: 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).Materials and Methods: 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. All representatives filled a questionnaire, which consisted of two sets of questions. The first set of questions was factual and contained specific questions about medical faculties and design of compulsory courses, whereas the second set of questions was more subjective and inquired the opinion of the representatives about mandatory education in clinical medical genetics in their countries and internationally. In addition, full course syllabi were analysed for course aims, learning outcomes, course content, methods for student evaluation and literature.Results: Detailed analysis was performed for a total of 22 medical faculties in Bosnia and Herzegovina (6), Croatia (4), Montenegro (1), North Macedonia (3), Serbia (6), and Slovenia (2). All but the two medical faculties in Slovenia offer either compulsory courses in basic education in human genetics (16 faculties/courses) or clinical education in medical genetics (3 faculties/courses). On the other hand, only the medical faculty in Montenegro offers both types of education, including one course in basic education in human genetics and one in clinical education in medical genetics. Most of the basic courses in human genetics have similar aims, learning outcomes and content. Conversely, clinical courses in medical genetics are similar concerning study year position, number of contact hours, ECTS (European Credit Transfer and Accumulation System) and contents, but vary considerably regarding aims, learning outcomes, ratio of types of classes, teaching methods and student evaluation.Conclusion: Our results emphasise the need for future collaboration in reaching a consensus on medical genetics education in Balkan countries with Slavic languages. Further research warrants the analysis of performance of basic courses, as well as introducing clinical courses in medical genetics to higher years of study across Balkan countries.

Aim: Although previous studies demonstrated short, medium and long-term effectiveness of faculty development programs (FDP) for medical teachers, there is a lack of studies describing the methodology for creating a sustainable comprehensive FDP in medical education. We present the methodology for creating the “Modern and Practical Medical Education (MPME),” a comprehensive four-month educational FDP tailored to actual institutional needs, and the initial results of its implementation and transformation of medical education at the University of Rijeka, Faculty of Medicine, Croatia (EU).Materials and methods: We conducted a multi-phase mixed-method cross-sectional study from July 2021 to June 2024 consisting of three steps: (1) construction of MPME FDP basic structure according to local/national priorities/specificities, literature and expertise, (2) a 360-degree current state analysis for adaptation of basic structure to actual institutional needs, and (3) analysis of the FDP education effectiveness. Step 2 included syllabi analyses and group interviews with 65 teachers’ at 8 departments (qualitative), as well as the analysis of medical students’ perspective using the “Medical students’ questionnaire” on 236 participants (quantitative), and 23 interviews with 8 participants using the “Medical students’ focus group” (qualitative). Step 3 included the quantitative analysis of 40 medical teachers’ self-assessments for 30 teachers’ competencies before and after MPME education using the “MPME questionnaire,” and qualitative analysis of measurable program outcomes.Results: The MPME FDP consists of three major modules with seven courses, and is based on a tripartite flipped classroom model. The results of qualitative and quantitative 360-degree analysis identified common weak spots in teachers’ competencies, which were used for program development. Program effectiveness was demonstrated through a highly significant change in the self-assessment for all 30 teachers’ competencies before and after education (p < 0.001), and numerous measurable educational outcomes.Conclusion: The creation of a comprehensive and sustainable FDP in medical education should be based on a three-step quantitative and qualitative process that includes the 360-degree analysis of actual institutional needs, and the effectiveness of the program education. This methodology has a highly significant positive effect on teachers’ competencies at the individual level, and creation of educational projects that transform medical education at the institutional level.