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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. [ABSTRACT FROM AUTHOR]

This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes Astrotactin 1 (ASTN1), EBF Transcription Factor 1 (EBF1), Eukaryotic Elongation Factor, Selenocysteine-tRNA Specific (EEFSEC), Microtubule-Associated Serine/Threonine Kinase 1 (MAST1), and Tumor Necrosis Factor Alpha (TNF-α) 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 ASTN1 rs146756455, EBF1 rs2963463, EBF1 rs2946169, EEFSEC rs201450565, MAST1 rs188343966, and TNF-α rs1800629 SNPs was performed using TaqMan real-time PCR. p-values were Bonferroni-adjusted for multiple comparisons. EBF1 SNP rs2963463 was significantly associated with sPTB (p adj = 0.03). Women carrying the CC genotype had a 3–4-times lower risk of sPTB (p adj < 0.0001). In addition, a significant difference in the frequency of the minor C allele was observed when comparing familial sPTB cases with controls (p adj < 0.0001). All other associations were based on unadjusted p-values. The minor T allele of EBF1 SNP rs2946169 was more frequent in sPTB cases overall than in controls, especially in sporadic sPTB (p = 0.045). Similarly, the CC genotype of ASTN1 SNP rs146756455 was more frequent in sporadic sPTB cases compared to controls (p = 0.019). Finally, the TNF-α SNP rs1800629 minor A allele and AA genotype were more common in the familial sPTB group compared to sporadic sPTB and controls (p < 0.05). The EBF1 SNP rs2963463 polymorphism showed a protective effect in the pathogenesis of sPTB, particularly in women carrying the CC genotype. Moreover, EBF1 SNP rs2946169 and ASTN1 SNP rs146756455, as well as TNF-α SNP rs1800629, were associated with an increased risk of sPTB, representing suggestive potential risk factors for sporadic and familial sPTB, respectively. [ABSTRACT FROM AUTHOR]

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic behaviour, corpus callosum hypoplasia and seizures). To date, approximately a hundred cases of the syndrome have been described, with an estimated prevalence of 1 in 100 000–250 000. BBSOAS is caused by the loss of function of the NR2F1 gene (nuclear receptor subfamily 2 group F member 1), which encodes the COUP‐TFI (Chicken ovalbumin upstream promotor‐transcription factor 1). COUP‐TFI functions as a homodimer and is one of the major transcriptional regulators directing cortical arealization, cell differentiation and maturation. Most cases of BBSOAS occur de novo, and one case was previously described in which the disease resulted from gonadal mosaicism. In the present case, we report two sisters with BBSOAS, a novel nonsense mutation in the NR2F1 gene and potential gonadal mosaicism as the cause of this rare disease, making it the second such case described in the literature. [ABSTRACT FROM AUTHOR]

The improvement of teacher competencies in medical education belongs to a wider system of professional development of employees, also known as faculty development. Faculty development is a focused strategy of a higher education institution for enabling the acquirement of knowledge, skills and attitudes in its fundamental activities, including education, research methodology and leadership. Organized strategies, especially for the conduction of different types of education and various professional activities, are particularly important and developed in the health professions, and are conducted through separate organizational units, such as offices, centers or departments. In modern medical education, it is crucial that each higher education institution has a centralized strategy for managing the faculty educational development of teachers, which should be aligned with the vision and mission of the faculty, especially the teaching and quality control sectors. In this review article we describe the activities of the Center for the Improvement of Teacher Competences and Communication Skills at the Faculty of Medicine in Rijeka, as a basic organizational unit that, in an organized and systematic manner, provides for the improvement of teacher competences since 2017. In addition, we will describe the educational activities that have been carried out through the Center since the mentioned year, including the lifelong learning programme Acquiring And Improving Teaching Competencies In Medical Education, courses Basics Of Work In The Distance Learning Management System Merlin, Preparatory English Language Course For Teachers, English As A Medium of Instruction In Medicine (EJVINMed) and Teaching In Clinical Simulation. Special emphasis will be placed on the basic programme for improving teacher competencies at the Faculty of Medicine in Rijeka, Modern and Practical Medical Education, which has been conducted since 2022. Finally, we will also mention other activities of the Center, such as peer review, organisation of scientific and professional meetings and the Student Section. [ABSTRACT FROM AUTHOR]

Case-based learning (CBL) is an authentic method of active learning in medical education in which students learn by solving written, highly structured guides that enable a detailed and systematic case analysis of a selected patient. Although CBL is applied for teaching clinical reasoning, the basic thinking process that medical doctors use when solving patient cases, and implies the existence of at least a certain level of previously acquired knowledge from basic courses, recent research points to the fact that CBL should be used both in preclinical and clinical courses. Considering that CBL simulates actual clinical practice, its application leads to increased motivation of students for learning, enabling the memorization of patients in patterns of clinical features and consequently their facilitated recognition in real practice. Therefore, medical educators should be encouraged to apply this learning method in their daily work, especially with the recent development of interactive applications for case analysis, which additionally contribute to the quality and possibilities of its implementation. This article presents ten ways of successful implementation of CBL through selected experiences at the Faculty of Medicine in Rijeka, including: encouraging interaction with students during lectures and seminars and gradation of students’ independence in mastering the expected learning outcomes; applying flipped classroom in seminars or practicals; encouraging directed self-learning in virtual space; application in clinical teaching in demanding conditions; encouraging early integration of clinical content into pre-clinical courses; application as an evaluation method; encouraging publishing and recognition of an institution; application in the education of medical educators; popularization of medical education in students and motivating students as medical educators. [ABSTRACT FROM AUTHOR]

The Student section of the scientific journal Medicina Fluminensis, the official journal of the Croatian Medical Association – Rijeka Branch and the Faculty of Medicine in Rijeka, was founded in 2017 with the aim of promoting and enchancing student scientific activities at the Faculty of Medicine in Rijeka, which over time expanded to other national and international medical faculties. However, although there are only a few student sections of scientific journals in the world, the Student Section of Medicina Fluminensis represents a unique educational platform that provides support to students in their scientific development through numerous activities, including conducting education in scientific methodology (workshop How to write a good case report, The art of active participation in scientific meetings, Everything students need to know about science in 120 minutes), providing professional support to student scientific meetings (MedRi Scientific PICNIC, NeuRi – Student Neuroscience Congress, HitRi – Student Congress of Emergency Medicine, Sanitas – Student Congress of Health Protection, OSCON – International Translational Medicine Congress of Students and Young Physicians, SAMED – International Medical Students Congress Sarajevo, Plexus Split) and popularization of science (Science Sunday, Case night formats). In addition to the mentioned activities, this article describes the aims, principles and importance of the Student Section, as well as the possibilities of its further development for the benefit of students of various studies in the health professions. [ABSTRACT FROM AUTHOR]

Epigenetic changes include all modifications affecting the expression of genes without changing the nucleotide sequence of the genome. Most studied epigenetic changes include DNA methylation, histone alterations and non-coding RNAs. DNA methylation is an important epigenetic mark, protecting the genome during gametogenesis and early embryo development. Demethylation process is a genome-wide event, taking place in two distinct waves during gametogenesis. The first event helps restore naïve pluripotency of the zygote, while the second event aids in the loss of parental epigenetic memory and facilitates specification of gametes. Histone modifications were recognized in murine and human primordial germ cells where their subsets condense chromatin, protecting it from dynamic changes taking place during gamete maturation. Deacetylation of histones was recognized as an important prerequisite of chromosomal segregation during metaphase II. Germline-specific ncRNAs and piRNAs are important in inhibiting transposon activity during gametogenesis, protecting overall genome stability. All epigenetic changes are prone to disruption, especially by exogenous factors. In recent years, with the increase in infertility, the association between assisted reproductive technology (ART) and its effects on epigenome remodeling of gametes have gained importance. The aim of this review is to summarize the epigenetic modifications crucial for oocyte development, while highlighting their role in reproductive disorders and ART. [ABSTRACT FROM AUTHOR]

The article offers information on the MedRi 2023 Conference, which consisted The First International Conference on Teaching and Learning in Medical Education and the satellite student symposium on Future Doctors Educating the World. The aim of the conference was to address the challenges and developments in medical education in Croatia, encourage cooperation, share best practices, and provide solutions and directions for the future of medical education in the country.

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. [ABSTRACT FROM AUTHOR]

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 DNMT polymorphisms and factors proposed to modulate DNAm, in patients who delivered early preterm. This case-control study included women who delivered spontaneously early preterm (23–336/7 weeks of gestation), and control women. DNAm was analyzed in peripheral blood lymphocytes by quantification of LINE-1 DNAm using the MethyLight method. There was no significant difference in LINE-1 DNAm between patients with early PTB and controls. Among the investigated predictors, only the history of previous PTB was significantly associated with LINE-1 DNAm in PTB patients (β = −0.407; R2 = 0.131; p = 0.011). The regression analysis showed the effect of DNMT3B rs1569686 TT+TG genotypes on LINE-1 DNAm in patients with familial PTB (β = −0.524; R2 = 0.275; p = 0.037). Our findings suggest novel associations of maternal LINE-1 DNA hypomethylation with DNMT3B rs1569686 T allele. These results also contribute to the understanding of a complex (epi)genetic and environmental relationship underlying the early PTB. [ABSTRACT FROM AUTHOR]

Background Objectives Search strategy Selection criteria Data collection and analysis Results Conclusions Despite various genomic approaches used in prior studies investigating the association of maternal genetic variability with spontaneous preterm birth (sPTB), results show inconsistency and contradictions.To conduct a systematic review of studies analyzing the association between maternal genetic variants and sPTB, evaluate retrieved studies based on selection criteria, classify studies into hypothesis‐based and hypothesis‐free, and perform a meta‐analysis to identify the strongest associations.PubMed, Scopus, and reference lists were searched until October 2024.English‐language, case–control, cross‐sectional, and prospective cohort studies examining the association between maternal genetic variations and sPTB were included.Data on authors, publication year, ethnicity, genes/variants, P values, study type, sample size, inclusion criteria, and methods were collected. The association strength was estimated using odds ratios with 95% confidence intervals.Eighty‐one studies met eligibility criteria: 73 utilized a hypothesis‐based and 14 a hypothesis‐free approach. Thirty‐five studies qualified for a meta‐analysis, revealing a significant association in tumor necrosis factor α (rs1800629) gene for alleles and additive and recessive genetic models (P ≤ 0.05). From the hypothesis‐free approach, 13 genes reached global significance in association with sPTB (P < 5 × 10−8).No single gene or variant was consistently associated with sPTB risk among studies. Hypothesis‐based analyses highlighted tumor necrosis factor α (rs1800629) as a modest signal, while hypothesis‐free approaches identified 13 genes with genome‐wide significance, pointing to new research directions in understanding sPTB genetics. [ABSTRACT FROM AUTHOR]

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. The vitamin D receptor (VDR) is a crucial mediator of the pleiotropic cellular effects of vitamin D. Its function is influenced by several single nucleotide polymorphisms (SNPs). The main objective of this study is to assess whether maternal VDR SNPs are associated with the risk of RPL in Slovenian and Croatian women.Methods: A case-control study including 320 women with RPL and control women is designed to examine the potential association of VDR polymorphisms (FokI rs222857, Cdx2 rs11568820, and Taq1 rs731236) with RPL. Genotyping is performed using polymerase chain reaction and restriction fragment length polymorphism methods.Results: We find a statistically significant higher frequency of the rs222857 CC genotype (χ2 = 6.61, p = .036) and C allele (χ2 = 5.93, p = .015) in RPL women compared to controls. Subsequently, the odds for RPL for the rs222857 are increased under the recessive (CCvsCT + TT: OR = 1.78; 95% CI = 1.12-2.82; p = .015) and the codominant (CCvsTT: OR = 2.21; 95% CI = 1.08-4.53; p = .029; CCvsCT: OR = 1.68; 95% CI = 1.04-2.72; p = .036) genetic models. The other two analyzed polymorphisms did not show any statistical significant result.Conclusions: Our results suggest that variations in the maternal VDR FokI gene might be associated with RPL in Slovenian and Croatian women. [ABSTRACT FROM AUTHOR]

Timely diagnosis of recessive single-gene diseases in patients is of the utmost importance for the implementation of the available methods of disease prevention or specific symptomatic therapy when the disease has already developed. Furthermore, an important link in the prevention and monitoring of the likelihood of appearance of recessive monogenic diseases are various possibilities of genetic testing that can detect carriers, who are most often healthy individuals but can transmit the genetic change to offspring. This review article presents the latest findings related to the definition, frequency, and diagnosis of recessive monogenic diseases, including diagnostic genetic testing, carrier testing, population screening, and extended genomic carrier screening. [ABSTRACT FROM AUTHOR]

Background: In light of recent extensive efforts to improve the quality of teaching at the Faculty of Medicine in Rijeka, comprehensive research was conducted for the first time on students of the last three years of Medical studies to determine the current state of teachers’ competencies in clinical teaching at the Faculty of Medicine in Rijeka. Aim: The main aim of this study was to investigate the medical students’ attitudes towards currently existing clinical teaching strategies and teachers’ competencies at the Faculty of Medicine in Rijeka. Materials and Methods: The study was conducted with 4th, 5th, and 6th year students of the Integrated Undergraduate and Graduate University Study Medicine at the Faculty of Medicine in Rijeka, who voluntarily and anonymously completed an online questionnaire in the academic year 2021/22. The questionnaire consisted of 3 questions about the general characteristics of the respondents and 9 questions about the methodology and specificities of clinical teaching at the Faculty of Medicine in Rijeka. All questions on specificities of clinical teaching included grading from 1 to 5 on a Likert scale. Results: A total of 54 students from the last three years of study participated in answering the questionnaire. The average grade for all questions on the specificities of clinical teaching was 2.4. The highest grade of 3.7 was given for the question “To what extent is the scope of the course material too detailed or too specialized for medical students?”, while the lowest grade of 1.5 was given for the question “Do teachers assess the different levels of clinical competences in students at the beginning of courses?”. Conclusion: Considering the low average grade with which students answered all questions on the specifics of clinical teaching, this survey highlights the importance of continuous education for medical educators to improve teachers’ competencies, as well as the overall quality of the teaching process. [ABSTRACT FROM AUTHOR]

Puzzles of Heredity is a project conducted since 2021 by the Centre for Genetic Education at the Faculty of Medicine in Rijeka and CroMSIC – Croatian Medical Students’ International Committee. The workshop is intended for children of preschool and early school age (grades 1–4), and the aims are to introduce children to the hierarchical structure of the human body, as well as the basic concepts of genetics and principles of inheritance, and raise awareness in children about the importance of respecting differences between humans and other living beings. The workshop is conducted by genetic educators from the Centre for Genetic Education, as well as specifically trained student genetic educators from CroMSIC. Genetic educators use different types of educational materials for the workshop, including a picture book and three didactic toys, which were designed by a preschool teacher, Montessori pedagogue.The Puzzles of Heredity workshop encourages the development of genetic literacy in children from an early age, enabling the acquisition of knowledge about basic genetic concepts, developing positive attitudes towards the appreciation of differences between living beings, as well as developing respect for life in general. Genetic diseases are not exclusively rare diseases and low levels of genetic literacy among healthcare professionals and the general population are the main cause of discrimination and mistreatment of people who are born “different”. Therefore, increasing genetic literacy in children is of the utmost importance because knowledge is the only way to release fear and development of negative attitudes. The aim of this lecture is to present the aims, concept, results and significance of conducting the Puzzles of Heredity workshop in children of preschool and early school age. In addition, the aim is to emphasize the important role medical educators and medical students have in the transfer of highly specific knowledge to the general public. [ABSTRACT FROM AUTHOR]

The higher education system in the healthcare profession is unique because professionals involved in delivering education have three simultaneous roles, including that of the healthcare provider, medical educator and scientist. However, while current mandatory programs are focused mostly on delivering education on how to become a healthcare provider, the increasing demands on professionals to acquire both teaching and research excellence imposes challenges for organizing new concepts for additional training. These highly organized professional development activities are known as faculty development programs, but are currently underrepresented in the European higher education systems. The aim of this presentation is to highlight the innovative approach to how the Faculty of Medicine in Rijeka, Croatia transformed professional development activities through the Centre for Improving Teachers’ Competencies and Communication Skills, a specialized organizational unit, the activities of which are aimed at both healthcare professionals, as well as students. The Centre provides a plethora of faculty development programs, which are primarily focused on educational development for improving teachers’ competencies, introducing innovative learning methods, conducting peer review and organization of international meetings. In addition, our rich student development programs include primarily research development, which is conducted in association with the scientific journal Medicina Fluminensis and represents an internationally and nationally awarded program for encouraging student scientific activities. Finally, as the result of the international collaboration between the Faculty of Medicine in Rijeka and Texas Tech University Health Sciences Center El Paso, this presentation emphasizes the importance of establishing international collaborative faculty and student development programs. The intention of such programs is to share best practices and provide support for the establishment of an international platform for improving professional competencies in the healthcare higher education system. [ABSTRACT FROM AUTHOR]

The aim of this mini-review is to give an overview of the current controversies and advances regarding the definition and causes of recurrent spontaneous abortion, with particular emphasis on genetic factors. The presented knowledge is based on the most recent findings of observational and experimental studies, as well as systematic reviews and meta-analyses. [ABSTRACT FROM AUTHOR]

Keywords: genetic literacy; genetic education; medical education; medical genetics; medicine EN genetic literacy genetic education medical education medical genetics medicine 1 2 2 05/02/22 20220428 NES 220428 Genetic literacy is a critical prerequisite for appropriate care for patients with genetic disorders, and includes the literacy on basic concepts in human and medical genetics. Unfortunately, these advances have not been accompanied by an adequate level of genetic literacy in medical students, non-genetic health professionals involved in the care of patients with genetic disorders, as well as general public, including patients. Except for Slovenia, all other countries offer either courses in basic education in human genetics or both basic education in human genetics and clinical education in medical genetics. [Extracted from the article]

Background: In light of recent extensive efforts to improve the quality of teaching at the Faculty of Medicine in Rijeka, a comprehensive research was conducted for the first time to determine the current state of teachers’ competencies at the Faculty. Aim: The main objective of this research was to assess the quality of teachers’ competencies at the Faculty of Medicine in Rijeka by medical students of all study years. Materials and Methods: The study involved students from all years of the Integrated Undergraduate and Graduate University Studies at the Faculty of Medicine in Rijeka, who anonymously and voluntarily completed an online questionnaire in the academic year 2021/22. The questionnaire consisted of four groups of questions: general information about the respondents; lesson planning (syllabi, learning objectives and outcomes, planned course content); learning methods; student assessment. All questions included grading from 1 to 5 on a Likert scale. Results: A total of 136 students from all years of study participated in answering the questionnaire. The questions on lesson planning were answered with an average grade of 3.1, with a clear trend towards a decrease in grades in the later years of study. The questions on learning methods, which relate to the actual delivery of classes, received the same average grade of 3.1. In addition, in this part of the questionnaire, respondents assessed the degree of interactivity, individualization, and relevance of the course content in the different forms of teaching, with practicals receiving the highest average grade (3.6) and lectures the lowest (2.3). The average grade obtained for the questions on student assessment was 2.8. Conclusion: The obtained results underline the importance of conducting education of medical educators with the aim of improving the quality of the teaching process, as well as teachers’ competencies. [ABSTRACT FROM AUTHOR]

Medicina Fluminensis is the official scientific journal of the Croatian Medical Association–Rijeka Branch and Faculty of Medicine in Rijeka, Croatia. The journal is indexed in Scopus and published in electronic and printed editions four times a year. The initiative to establish the Student Section of the journal was started in 2017 and all alctivities are implemented based on the teamwork of the Executive Editor for the Student section, student representatives in the Editorial Board, and students involved in the scientific program of the Faculty of Medicine in Rijeka. The main aim of the Student Section is to promote and enhance student scientific activities through three main activities, including conducting scientific education, providing professional support to student scientific meetings and science popularization. The student section is an educational base that enables the acquisition of knowledge and skills in scientific methodology, strengthening and providing security to students in a structural framework so that they can achieve the highest level of creative freedom in their scientific activities. Therefore, we want to provide students with quality and easily accessible science education. The main feature of our workshops is that they are conducted exclusively through active learning methods. [ABSTRACT FROM AUTHOR]

The aim of this workshop is to provide a short overview of the basic concepts in research methodology that are essential for every student in the healthcare profession. The workshop is structured into three parts. The first part is dedicated to the structure and function of case reports as a scientific article, conference abstract, poster and oral presentation. In the second part, students are introduced to the types of scientific articles, whereas the third part focuses on literature search. The workshop is conducted exclusively through active learning methods, using examples from actual research practice. At the end of the workshop, every participant is assigned with a short homework with the aim of developing specific skills in research methodology. [ABSTRACT FROM AUTHOR]

Objective. The aim of this study was to investigate the association of functional MMP-1-1607 1G/2G and MMP-9-1562 C/T gene polymorphisms with spontaneous preterm birth (SPTB; preterm birth with intact membranes) in European Caucasian women, as well as the contribution of these polymorphisms to different clinical features of women with SPTB. Methods and Patients. A case-control study was conducted in 113 women with SPTB and 119 women with term delivery (control group). Genotyping of MMP-1-1607 1G/2G and MMP-9-1562 C/T gene polymorphisms was performed using the combination of polymerase chain reaction and restriction fragment length polymorphism methods. Results. There were no statistically significant differences in the distribution of neither individual nor combinations of genotype and allele frequencies of MMP-1-16071G/2G and MMP-9-1562 C/T polymorphisms between women with SPTB and control women. Additionally, these polymorphisms do not contribute to any of the clinical characteristics of women with SPTB, including positive and negative family history of SPTB, gestational age at delivery, and maternal age at delivery, nor fetal birth weight. Conclusion. We did not find the evidence to support the association of MMP-1-1607 1G/2G and MMP-9-1562 C/T gene polymorphisms with SPTB in European Caucasian women. [ABSTRACT FROM AUTHOR]

Copyright of Collegium Antropologicum is the property of Croatian Anthropological Society and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation. [ABSTRACT FROM AUTHOR]

Copyright of Collegium Antropologicum is the property of Croatian Anthropological Society and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective. The insulin-like growth factor 2 (IGF2) and its receptor (IGF2R) are important regulators of placental function and fetal growth. Our aim was to investigate the association between IGF2R gene Gly1619Arg G>A polymorphism and recurrent spontaneous abortion (RSA). Methods. Polymerase chain reaction and restriction fragment length polymorphism methods were performed to identify the genotypes in 149 couples with a history of at least three consecutive spontaneous abortions and 149 age-matched, unrelated, and fertile couples. Results. There were no statistically significant differences in genotype or allele frequency among the couples with RSA and healthy controls. Conclusions. We found no evidence that the IGF2R Gly1619Arg variation is associated with RSA. [ABSTRACT FROM AUTHOR]

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. Results: Chromosome aberrations were detected in 52/73 POCs (71.2%), of which 41 (56.2%) were identified by QF‐PCR and an additional 11 (15.1%) by aCGH. Numerical aberrations constituted 92.3% of abnormalities, with trisomies as the most common subtype (72.9%). Causative structural aberrations were found in three samples (5.8%). The frequency of chromosome aberrations was not dependent on the number of previous miscarriages, whereas it significantly increased with advanced maternal age. Conclusion: Our results confirm that chromosome aberrations are the most common cause of RM and that QF‐PCR and aCGH combination should be included in the routine genetic analysis of POCs of couples with miscarriage. [ABSTRACT FROM AUTHOR]

A meta-analysis of association studies was performed to assess whether the reported genetic polymorphisms in cytokine genes are risk factors for recurrent miscarriage (RM). The electronic PubMed database was searched for case-control studies on immunity-related genes in RM. Investigations of a single polymorphism/gene involvement in RM reported more than five times were selected. Aggregating data from seven case-control studies on --308/tumour necrosis factor-α polymorphism, the odds ratio (OR) for RM was 1.1 (0.87-1.39) if the polymorphism was considered under a dominant genetic model. In six studies on --1082/interleukin-10 (IL-10) polymorphism, the OR under a dominant model was 0.76 (0.58-0.99), and under a recessive model the OR was 0.90 (0.71-1.15). In five case-control studies on --174/IL-6 polymorphism, the OR for RM under a recessive model was 1.29 (0.69-2.40). The results show a statistically significant association with RM for the -1082/IL-10 genotype. [ABSTRACT FROM AUTHOR]

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. The molecular analysis of VDR SNPs employed polymerase chain reaction and restriction fragment length polymorphism. Results Patients and controls did not significantly differ in the distribution of genotype or allele SNP frequencies. However, the FokI polymorphism had a significant effect on newborn birth weight in women with SPTB but not in controls (F = 5.17, P = 0.007, one-way ANOVA with post-hoc Scheffe test), with newborns of FokI TT carriers having the lowest birth weight (P = 0.011). No other VDR SNP was associated with any other clinical characteristic of women with SPTB and their newborns. Conclusion The TT genotype of the VDR FokI polymorphism is associated with newborn birth weight in women of European origin with SPTB. [ABSTRACT FROM AUTHOR]

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. The clinical characteristics included in the analysis were family history of preterm birth, maternal smoking, maternal age, gestational week at delivery, and fetal birth weight. Results DNMT gene polymorphisms were not significantly associated with SPTB. DNMT3B rs1569686 and rs2424913 minor alleles (T) were significantly more frequent in women with familial PTB than in women with non-familial PTB, increasing the odds for familial PTB 3.30 and 3.54 times under dominant genetic models. They were also significantly more frequent in women with SPTB who smoked before pregnancy, reaching the most significant association under additive genetic models (odds ratio 6.86, 95% confidence interval 2.25-20.86, P < 0.001; odds ratio 3.77, 95% confidence interval 1.36-10.52, P = 0.011, respectively). Conclusions DNMT3B rs1569686 and rs2424913 gene polymorphisms might be associated with positive family history of PTB and smoking status. [ABSTRACT FROM AUTHOR]

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. Literature search was performed using PubMed and Scopus databases. We included 42 case-control studies in the systematic review for the following disorders: adenomyosis, endometriosis, hypertensive disorders of pregnancy, preterm birth and recurrent spontaneous abortion. Although a large number of MMP and TIMP gene polymorphisms were tested, no exclusive and unambiguous risk factors were identified for any of the disorders. The majority of statistically significant associations were confirmed in just one study. Additionally, we performed two meta-analyses for MMP9 rs3918242 polymorphism in endometriosis/adenomyosis and preeclampsia but found no association with either disorder. Considering the modest associations and conflicting results between individual case-control studies, new data is needed for further research of this subject. [ABSTRACT FROM AUTHOR]