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.
•A large number of MMP and TIMP SNPs were tested as predisposing factors to fertility disorders.•The aim of the study was to conduct a systematic review and meta-analysis of MMP and TIMP SNPs.•No unambiguous risk factors were identified for any of the disorders.
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.
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.
We find a statistically significant higher frequency of the rs222857 CC genotype (χ
2
= 6.61, p = .036) and C allele (χ
2
= 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.
Our results suggest that variations in the maternal VDR FokI gene might be associated with RPL in Slovenian and Croatian women.
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. Genotyping was performed using PCR‐RFLP methods.
Results
We found a statistically significant higher frequency of the DNMT3B rs1569686 GG genotype (X2=7.37;P = .025) and G allele (X2 = 6.33;P = .012) in RSA women compared with controls. Moreover, the odds for RSA in women were increased under the recessive genetic model (GGvsTG+TT: OR=1.92; 95% CI=1.18‐3.09; P = .008).
Conclusion
DNMT3B rs1569686 gene polymorphism in women might be a genetic marker for the susceptibility to RSA.
Foster carers have a specific task related to providing care to children who have experienced traumatic experiences and who, due to their complex needs, require longer periods of care. This paper ...aims to show the most common sources of stress of traditional and specialized foster carers for children that are mentioned in scientific papers published in Ebsco, Sage and Google Scholar databases and on the Croatian scientific portal Hrčak in the period from 2002 to 2022. A total of 33 papers were analysed, of which 17 papers are available on the scientific portal Hrčak and 16 papers are available in the databases Ebsco, Sage and Google Scholar. The identification of the sources of stress in foster parents for children is approached from the transactional model of stress according to the author Richard S. Lazarus, and the sources of stress in this paper are divided according to the characteristics of the person (foster and foster child) and the nature of external events. In addition to some sociodemographic characteristics, providing care to children with more pronounced emotional or behavioural difficulties is the most common source of stress for foster parents, which is related to the characteristics of the foster child. Sources of stress related to the characteristics of foster parents are feelings of professional incompetence, while sources of stress related to external events refer to working conditions and relationships with others. In our paper, sources of stress related to the organization of work of foster parents can still be identified. Key words: sources of stress; foster parents for children; social housing service
Cilj rada je dobiti uvid u prisutne stresore kod udomiteljica za djecu te teškoće koje udomiteljice doživljavaju pri obavljanju udomiteljstva. U radu se prikazuje dio rezultata kvalitativnog ...predistraživanja provedenog u sklopu istraživanja pod nazivom ”Odrednice profesionalnog stresa, sagorijevanja i mentalnog zdravlja udomiteljica za djecu” u kojem je sudjelovalo 16 udomiteljica za djecu s područja Osječko-baranjske županije, a koje je provedeno u svibnju 2022. godine. Ovo je prvo istraživanje u Hrvatskoj u kojemu su udomiteljice izravno upitane o izvorima stresa - stresorima, a rezultati su pokazali podudaranje s ranijim istraživanjima koji posredno dotiču teme stresora kod udomitelja u Hrvatskoj i svijetu, osobito u odnosu na stresore povezane s obilježjima udomljenog djeteta (kada udomljeno dijete pokazuje internalizirane i eksternalizirane probleme u ponašanju). U objašnjenju i samom prikazu rezultata slijeđen je teorijski okvir transakcijskog modela stresa i podjela profesionalnih izvora stresa na obilježja koja su povezana s osobama i prirodom izvanjskih događaja. Prisutni izvori stresa kod udomiteljica za djecu su povezani s obilježjima osoba (udomiteljica i udomljenog djeteta), kao i s prirodom izvanjskih događaja (koji se dijele na izvore stresa povezane uz organizaciju rada, radne uvjete i socijalne odnose).
The aim of the paper is to gain insight into the stressors present in foster carers for children and the difficulties that foster carers experience when performing foster care. The paper presents part of the results of qualitative pre-research conducted as part of the research entitled "Determinants of professional stress, burnout and mental health of foster carers for children" in which 16 foster carers from the Osijek-Baranja County participated from all six Regional Offices (Osijek, B. Manastir, D. Miholjac, Valpovo, Našice, Đakovo) of the Croatian Institute for Social Work. The research was carried out in May 2022. This is the first research in Croatia in which foster carers were directly asked about sources of stress, and the results showed a match with earlier research that indirectly engage in the topic of stressors in foster carers in Croatia and the world; especially in relation to stressors related to the characteristics of the foster child (when the foster child exhibits internalized and externalized behaviour problems). In the explanation and presentation of the results, the theoretical framework of the transaction model of stress and the division of professional sources of stress into characteristics related to people and the nature of external events were followed. The sources of stress present in foster carers for children are related to the characteristics of the persons (foster and foster child), as well as to the nature of external events (which are divided into sources of stress related to the organization of work, working conditions and social relations).
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.
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. We report here, as far as we know, the first case of a unique combination of balanced reciprocal translocation t(Y;1) with pericentric inversion of chromosome 9 in a patient with nonobstructive azoospermia (NOA) and an otherwise normal phenotype. Our patient was a 37-year-old Caucasian male sent to our Department due to azoospermia reported by semen analysis. The cytogenetic analysis revealed a balanced reciprocal translocation including chromosomes Y and 1 in all observed metaphases: 46, X,t(Y;1)(q12;q21) and a pericentric inversion of chromosome 9: inv(9)(p12q13). By performing metaphase FISH, the t(Y;1) translocation was confirmed. By means of multiplex-PCR, no Y-chromosome microdeletions were detected in the AZF regions. This report demonstrates a unique karyotype showing balanced reciprocal translocation t(Y;1)(q12;q21) with pericentric inversion 9: inv(9)(p12q13), in a patient with NOA, and highlights the importance of appropriate genetic counseling for patients with regard to the medical management of balanced chromosomal aberrations.
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.
Results
There were no statistically significant differences in the distribution of
MMP7
-181 A/G and
MMP12
-82 A/G genotype, allele, or haplotype frequencies between IRSA patients and controls, as well as patients’ primary and secondary IRSA. We also found no association of
MMP7
-181 A/G and
MMP12
-82 A/G genotypes, alleles, and haplotypes with IRSA.
Conclusions
We found no evidence to support the association between IRSA and
MMP7
-181 A/G and
MMP12
-82 A/G SNPs in Slovenian reproductive couples.
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