RESUMO
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.
Assuntos
Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Nascimento Prematuro/genética , Receptores de Calcitriol/genética , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Técnicas de Genotipagem , Idade Gestacional , Heterozigoto , Humanos , Recém-Nascido , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Gravidez , Adulto JovemRESUMO
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.
Assuntos
DNA (Citosina-5-)-Metiltransferases/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Nascimento Prematuro/genética , Fumar/genética , Adolescente , Adulto , Estudos de Casos e Controles , Saúde da Família , Feminino , Frequência do Gene , Técnicas de Genotipagem , Idade Gestacional , Humanos , Recém-Nascido , Razão de Chances , Reação em Cadeia da Polimerase , Gravidez , Adulto Jovem , DNA Metiltransferase 3BRESUMO
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.
Assuntos
Aborto Habitual/genética , Aborto Espontâneo/genética , Predisposição Genética para Doença , Metaloproteinase 12 da Matriz/genética , Metaloproteinase 7 da Matriz/genética , Aborto Habitual/patologia , Aborto Espontâneo/patologia , Adulto , Alelos , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , GravidezRESUMO
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. We also aimed to evaluate the potential differences in summary estimates between studies defining IRSA as ≥2 and ≥3 spontaneous abortions. Genotyping was performed by PCR, and systematic review conducted using PubMed and Scopus. There was no association of the polymorphism with IRSA in Slovenian women. Sixteen case-control studies, showing substantial differences regarding IRSA definition and selection criteria for women were identified. Meta-analysis was performed and included four studies defining IRSA as ≥2 spontaneous abortions and the current study, which defined IRSA as ≥3 spontaneous abortions. Based on random effects model, meta-analysis conducted on 1192 patients and 736 controls showed no association with IRSA under dominant(DD+IDvsII) and recessive(DDvsID+II) genetic models. Well-designed studies are needed to evaluate the role of ACE I/D polymorphism in IRSA defined as ≥3 spontaneous abortions.
Assuntos
Aborto Habitual/genética , Mutação INDEL , Íntrons , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Alelos , Estudos de Casos e Controles , Medicina Baseada em Evidências , Feminino , Predisposição Genética para Doença , Variação Genética , Genótipo , Humanos , Gravidez , EslovêniaRESUMO
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 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8 , Proteínas de Ligação a DNA/genética , Deleção de Genes , Síndrome de Langer-Giedion/genética , Fatores de Transcrição/genética , Feminino , HumanosRESUMO
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. Allele-specific polymerase chain reaction was used for genotyping. RESULTS: We found no association of the -2549 I/D polymorphism with IRSA in women. However, men with the DD genotype have a 1.75-fold increased risk of IRSA compared with men carrying the ID and II genotypes (95 % confidence interval (CI) = 1.05-2.93, P = 0.032). In addition, the D allele in men contributes to a 1.42-fold increased risk of IRSA (95 % CI = 1.02-1.97, P = 0.036) compared to men carrying the I allele. CONCLUSIONS: Our results indicate that the -2549 I/D polymorphism in the VEGFA gene in men might be associated with IRSA. Additional genetic association studies including both partners, as well as expression studies, are needed to elucidate the role of this polymorphism in IRSA.
Assuntos
Aborto Habitual/genética , Mutação INDEL , Fator A de Crescimento do Endotélio Vascular/genética , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Polimorfismo Genético , EslovêniaRESUMO
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. The median score for overall knowledge of medical genetics was 70.2% among obstetrician-gynecologists, 80.5% among pediatricians, and 76.7% among neurologists (Pâ¯< 0.001, lowest median in obstetrician-gynecologists). When asked about their behavior in daily practice, around 90% of respondents admitted the possibility of not recognizing patients with genetic disorders, which is why more than 90% emphasized the need for additional education in medical genetics. In addition, the respondents showed a positive attitude toward genetic testing, but they did not feel educated enough to interpret the results of genetic testing. The results highlight the need for further genetic education of non-genetic health professionals, which would lead to greater confidence and ability to recognize patients with genetic disorders, select the appropriate genetic testing method and achieve more efficient communication with patients.
Assuntos
Genética Médica , Ginecologia , Obstetrícia , Médicos , Feminino , Gravidez , Humanos , Criança , Conhecimentos, Atitudes e Prática em Saúde , Estudos Transversais , Inquéritos e Questionários , Atitude do Pessoal de SaúdeRESUMO
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. There has been no research on the genetic background of Parkinson's disease in Croatia so far. Therefore, with the GiOPARK project, we aimed to investigate the genetic variants responsible for Parkinson's disease in 153 Croatian patients with early onset, familial onset, and sporadic late-onset using whole-exome sequencing, along with multiplex ligation-dependent probe amplification and Sanger sequencing in select patients. We found causative variants in 7.84% of the patients, with GBA being the most common gene (4.58%), followed by PRKN (1.96%), ITM2B (0.65%), and MAPT (0.65%). Moreover, variants of uncertain significance were identified in 26.14% of the patients. The causative variants were found in all three subgroups, indicating that genetic factors play a role in all the analyzed Parkinson's disease subtypes. This study emphasizes the need for more inclusive research and improved guidelines to better understand the genetic basis of Parkinson's disease and facilitate more effective clinical management.
Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/genética , Doença de Parkinson/epidemiologia , Croácia , Testes Genéticos , Sequenciamento do ExomaRESUMO
OBJECTIVE: To test the association between insulinlike growth factor 2 (IGF2) ApaI and IGF2 receptor (IGF2R) Gly1619Arg gene polymorphisms and idiopathic male infertility. STUDY DESIGN: Polymerase chain reaction and restriction fragment length polymorphism methods were performed to detect the IGF2 ApaI and IGF2R Gly1619Arg genotypes in 98 Croatian men with idiopathic infertility and 113 fertile men. RESULTS: There were no significant differences between patients and controls according to genotype (chi2(IGF2) = 3.46, p = 0.177; chi2(IGF2R) = 1.12, p= 0.571, respectively) and allele frequencies (chi2(IGF2) = 3.23, p = 0.072; chi2(IGF2R) = 0.99, p = 0.319, respectively). Odds ratios for recessive, dominant and codominant models and association testing with each genotype combination revealed no difference between infertile men and controls. CONCLUSION: In this study we have shown that IGF2 ApaI and IGF2R Gly1619Arg gene polymorphisms are not associated with male infertility.
Assuntos
Infertilidade Masculina/genética , Fator de Crescimento Insulin-Like II/genética , Polimorfismo de Nucleotídeo Único , Receptor IGF Tipo 2/genética , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Croácia , Frequência do Gene , Genes Dominantes , Genes Recessivos , Genótipo , Humanos , Masculino , Razão de Chances , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de RestriçãoRESUMO
Langer-Giedion syndrome (LGS) is a contiguous gene syndrome caused by a hemizygous deletion on chromosome 8q23.3-q24.11 involving TRPS1 and EXT1 genes. We report on a girl with LGS phenotype and a 7.5 Mb interstitial deletion at chromosome 8q23.3-q24.13. Array-comparative genomic hybridization (a-CGH) revealed a deletion encompassing only the EXT1 and not the TRPS1 gene. Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact. To our knowledge, this is the third such case. Our patient differs from previously reported LGS patients without TRPS1 gene deletion in that she has the typical LGS facial dysmorphism and skeletal abnormalities. However, the girl is of normal height and has only a mild developmental delay. Additionally, she has dyslalia and premature adrenarche classified as Tanner stage 3 premature pubarche which have not yet been described as features of LGS. We examine the molecular breakpoints and phenotypes of our patient and previously reported cases.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8 , Proteínas de Ligação a DNA/genética , Deleção de Genes , Síndrome de Langer-Giedion/genética , Fatores de Transcrição/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Fenótipo , Proteínas RepressorasRESUMO
Idiopathic recurrent spontaneous abortion (IRSA) has been associated with abnormalities in the remodelling of endometrial extracellular matrix, as well as aberrant matrix metalloproteinase (MMP) gene expression in endometrium of IRSA women and chorionic villi of IRSA concept. This study investigated the association of five functional MMP gene promoter polymorphisms (MMP1 -1607 1G/2G, MMP2 -735 C/T, MMP2 -1306 C/T, MMP3 -1612 5A/6A and MMP9 -1562 C/T) with IRSA. A total of 149 couples with at least three consecutive IRSA and 149 fertile couples were included in a case-control study. Genotype analysis was performed using PCR restriction fragment length polymorphism. Statistically significant differences were found in distributions of MMP2 -735 CT (chi-squared 10.21, P=0.006; OR 2.15, 95% CI 1.34-3.45, P=0.001), and MMP9 -1562 CC (chi-squared 9.06, P=0.010; OR 2.21, 95% CI 1.30-3.80, P=0.004) between IRSA women and controls. Combined analysis of MMP gene polymorphisms did not increase their predictive value. There were no statistically significant differences in genotype and allele frequencies of any polymorphism between IRSA men and controls. MMP2 -735 C/T and MMP9 -1562 C/T functional gene polymorphisms might be associated with an increased risk of IRSA in women. Considering the insufficient knowledge on genetic contribution to pregnancy loss, studies on genetic causes of idiopathic recurrent spontaneous abortion (IRSA) are of great importance. Development of a histologically and functionally normal endometrium is critical for subsequent endometrial decidualization, receptivity and implantation. The proper communication and interaction between maternal decidual cells and the embryo is essential for the establishment of a functional fetal-maternal interface. IRSA has been associated with abnormalities in the remodelling of endometrial extracellular matrix, as well as aberrant matrix metalloproteinase (MMP) gene expression in endometrium of IRSA women and chorionic villi of IRSA concepti. The aim of this study was to investigate the association of five functional MMP gene promoter polymorphisms with IRSA. A total of 149 couples with at least three consecutive IRSA and 149 fertile couples were included in a case-control study. Genotype analysis was performed using polymerase chain reaction and restriction fragment length polymorphism. Statistically significant differences were found in distribution of MMP2 -735 CT and MMP9 -1562 CC genotypes between IRSA and control women. Combined analysis of MMP gene polymorphisms did not increase their predictive value. There were no statistically significant differences in distribution of genotype and allele frequencies of any polymorphism between IRSA men and controls. Our results demonstrate that MMP2 -735 C/T and MMP9 -1562 C/T functional gene polymorphisms might be associated with an increased risk of IRSA in women.
Assuntos
Aborto Habitual/genética , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 2 da Matriz/genética , Metaloproteinase 3 da Matriz/genética , Metaloproteinase 9 da Matriz/genética , Polimorfismo de Nucleotídeo Único/genética , Aborto Habitual/epidemiologia , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Fatores de RiscoRESUMO
The aim of this research was to investigate the prevalence of obesity and high blood pressure and to prove which of three anthropometric indicators of obesity - waist circumference, body mass index (BMI) waist-to-hip ratio - is better predictor for the development of hypertension in women population of the island of Cres. We approached separately groups of women with measured high blood pressure and with previously diagnosed. The research was preformed within the research project "Genetic and biomedical characteristics of the population of the island of Cres". This was the cross sectional study and data were obtained on the sample of 247 females over 18 years old that voluntarily participated in this study. In our study group the prevalence of overweight was 39.0%, obesity 27.5%, increased waist circumference was present in 69.4% while increased blood pressure was found in 53.0% examinees. Our results indicate that age, BMI, impaired glucose concentration and serum cholesterol could be considered as predictors for the development of arterial hypertension, whether measured or previously diagnosed.
Assuntos
Antropometria/métodos , Índice de Massa Corporal , Hipertensão/epidemiologia , Circunferência da Cintura , Relação Cintura-Quadril , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Obesidade/epidemiologia , Valor Preditivo dos Testes , Fatores de Risco , Adulto JovemRESUMO
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 (ß = -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 (ß = -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.
Assuntos
Metilação de DNA , Desoxirribonuclease I , Nascimento Prematuro , Estudos de Casos e Controles , Desoxirribonuclease I/genética , Feminino , Humanos , Recém-Nascido , Polimorfismo Genético , Gravidez , Nascimento Prematuro/genética , Fatores de RiscoRESUMO
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. In the Baltic States, overall, there has been a declining trend in proportions of polymerase chain reaction (PCR)-positive samples from wild boar carcasses in the last few years. In the other countries, the proportions of PCR-positive wild boar carcasses remained high, indicating continuing spread of the disease. A systematic literature review revealed that the risk factors most frequently significantly associated with ASF in domestic pigs were pig density, low levels of biosecurity and socio-economic factors. For wild boar, most significant risk factors were related to habitat, socio-economic factors and wild boar management. The effectiveness of different control options in the so-named white zones, areas where wild boar densities have been drastically reduced to avoid further spread of ASF after a new introduction, was assessed with a stochastic model. Important findings were that establishing a white zone is much more challenging when the area of ASF incursion is adjacent to an area where limited control measures are in place. Very stringent wild boar population reduction measures in the white zone are key to success. The white zone needs to be far enough away from the affected core area so that the population can be reduced in time before the disease arrives and the timing of this will depend on the wild boar density and the required population reduction target in the white zone. Finally, establishing a proactive white zone along the demarcation line of an affected area requires higher culling efforts, but has a higher chance of success to stop the spread of the disease than establishing reactive white zones after the disease has already entered in the area.
RESUMO
BACKGROUND: The population of the island of Cres presents one of the few persisting Eastern Adriatic isolates and is thereby suitable for human population differentiation analyses. AIM: The aim of this study was to analyse the genetic structure of the island of Cres with respect to its eight sub-populations and to compare the genetic variation of the island of Cres with other Eastern Adriatic islands and the Croatian mainland. SUBJECTS AND METHODS: Fifteen AmpFlSTR identifiler loci were analysed in a sample group of 122 unrelated autochthonous individuals from the island of Cres, Croatia. RESULTS: Analysis of STR polymorphisms revealed genetic homogeneity among sub-populations of the island of Cres and small but significant levels of genetic heterogeneity among geographically distant Eastern Adriatic islands. CONCLUSION: Despite a considerable degree of genetic homogeneity among the studied Eastern Adriatic islands, small but significant differentiation between distant islands indicates geographic sub-structuring which follows the isolation by distance model. This study is supportive of the notion that STR markers are useful for genetic differentiation between larger and geographically more distant regions.
Assuntos
Repetições de Microssatélites , Polimorfismo Genético , Alelos , Croácia , Frequência do Gene , Variação Genética , Geografia , Humanos , Reação em Cadeia da PolimeraseRESUMO
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.
Assuntos
Acalasia Esofágica/etiologia , Síndrome de Williams/complicações , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Recidiva , Síndrome de Williams/diagnósticoRESUMO
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. Fifth-year students completed the questionnaire twice (beginning/end of the course), while sixth-year students completed the questionnaire once, 3 months after completing the course. The education was carefully designed for medical students according to the CoreCompetences in Genetics for Health Professionals in Europe issued by the European Society of Human Genetics. Using the Kruskal-Wallis test, a statistically significant difference was found between fifth year before and after education and between the fifth year before education and sixth year for (a) total knowledge (P < 0.001), (b) total attitudes (P < 0.001) and (c) personal assessment of knowledge in medical genetics (P < 0.001). Moreover, positive attitudes were associated with higher levels of knowledge. In conclusion, our results emphasise the importance of needs-based education in medical genetics for medical students, which is indispensable for the increase in the level of knowledge and development of positive attitudes in order to provide better health care for patients with genetic disorders.
Assuntos
Atitude , Genética Médica/educação , Avaliação das Necessidades , Estudantes de Medicina/psicologia , Inquéritos e Questionários/normas , Educação Médica/métodos , Educação Médica/normas , HumanosRESUMO
Yautosome 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.
Assuntos
Azoospermia , Infertilidade Masculina , Adulto , Azoospermia/genética , Cromossomos Humanos Y , Humanos , Infertilidade Masculina/genética , Masculino , Aberrações dos Cromossomos Sexuais , Translocação GenéticaRESUMO
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 â¼50% 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.
Assuntos
Aborto Habitual , Receptores de Calcitriol , Aborto Habitual/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez , Receptores de Calcitriol/genética , Fatores de Risco , Vitamina DRESUMO
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.