COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency.

OBJECTIVES: To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. METHODS: Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (COL1A1), rs1882435 in collagen type IV alpha 3 chain (COL4A3), rs2277698 in metallopeptidase inhibitor 2 (TIMP2), and rs1800468 in transforming growth factor beta 1 (TGFB1). RESULTS: We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011). CONCLUSIONS: The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan syndrome represented 76% of the subjects, with heterozygous variants in nine different genes, mainly PTPN11, SOS1, RAF1, LZTR1, and RIT1, detected by Sanger and next-generation sequencing. The latter was applied to 126 individuals, with a positive yield of 63% in genes of the RAS/MAPK cascade. We present evidence that there are some allelic differences in PTPN11 across distinct populations. We highlight the clinical aspects that pose more medical concerns, such as the cardiac anomalies, bleeding diathesis and proliferative lesions. The genotype-phenotype analysis between the RASopathies showed statistically significant differences in some cardinal features, such as craniofacial and cardiac anomalies, the latter also statistically significant for different genes in Noonan syndrome. We present two individuals with a Noonan syndrome phenotype, one with an atypical, structural cardiac defect, harboring variants in genes mainly associated with isolated hypertrophic cardiomyopathy and discuss the role of these variants in their phenotype.

Risk factors for gastroschisis: A case-control study in a Brazilian population.

OBJECTIVE: To evaluate risk factors associated with fetal gastroschisis. METHODS: As a secondary aim of a larger case-control study, pregnant women attending the Fetal Medicine Unit at the Department of Obstetrics and Gynecology at Hospital das Clinicas, Sao Paulo University Medical School between July 1, 2013, and July 31, 2015, were allocated into either the gastroschisis group, where the woman was carrying a fetus with gastroschisis, or the control group, where the fetus was normal. Patients in the control group were matched at study entry for maternal age, preconception body mass index and weeks of gestation. In-person interviews were conducted during pregnancy to obtain data on demographic, medical, and social characteristics; exposure to substances; pregnancy history; the presence of chronic disease, urinary tract infections (UTIs), influenza, and fever; and the occurrence of stress events between the month before the last menstrual period and the first trimester of pregnancy. RESULTS: Of 171 women included in the study, 57 were allocated to the gastroschisis group and 114 to the control group. There were significant associations between gastroschisis and maternal UTI (P=0.011), tobacco use (P=0.001), alcohol consumption (P≤0.001), and illicit drug use (P=0.012). After analysis by standard logistic regression, the remaining significant factors were UTI, tobacco use, and alcohol consumption. CONCLUSION: UTI and exposure to tobacco or alcohol just before conception and during early pregnancy were associated with an increase in the likelihood of fetal gastroschisis.

Contaminação de tubos de resina composta manipulados sem barreira de proteção / Contamination of composite resin tubes handled without a protective barrier

A contaminação dos materiais de uso comum nas clínicas/escola de odontologia representa um problema, principalmente pelo risco de transmissão de microrganismos patogênicos. Os tubos de resina composta, por exemplo, podem ser veículos responsáveis por contaminação cruzada. O objetivo deste estudo foi verificar a presença de contaminação em tubos de resina manipulados sem barreira de proteção. Os tubos de resina foram manipulados por um grupo de graduandos em uma clínica/escola durante 9 sessões, sempre ao final do procedimento clínico, estando o voluntário ainda calçado com as luvas utilizadas no atendimento do paciente. Dez tubos de resina, do mesmo lote de fabricação, foram utilizados; sendo que um deles foi o controle negativo e 9 foram manipulados na clínica. Para verificação de contaminação um tubo de resina de cada vez foi incubado por 24h num tubo de ensaio contendo água peptonada tamponada e 100µL do inóculo resultante foi semeado em duplicata em Ágar BHI e em Ágar Manitol Salgado. A contaminação foi observada através da contagem total de microrganismos nas culturas em Agar BHI, e a presença de Staphylococcus spp. nas culturas em Agar Manitol Salgado. O tubo controle não apresentou nenhuma contaminação. Os tubos manipulados após os procedimentos clínicos apresentaram contaminação desde a primeira sessão de manipulação. A cada nova sessão de manipulação foi observada maior contagem total de microrganismos e maior contagem de estafilococos. Os resultados indicam que para evitar infecções cruzadas há necessidade de utilização de métodos de desinfecção e utilização de barreiras de proteção dos materiais de uso comum.

The contamination of materials of common use at the clinics of dental schools is a problem, mainly due to the risk of transmission of pathogenic microorganisms. Composite resin tubes, for example, can be vehicles for cross-contamination. The purpose of this study was to verify the presence of contamination on resin tubes handled without a protective barrier. The resin tubes were manipulated during nine sessions in a dental school clinic by a group of last-grade students, always at the end of the clinical procedure, when each volunteer was still using the same gloves he used to care for his/her last patient. Ten resin tubes of the same batch / lot number were used: one of them was the negative control, and nine were handled at the clinic. To determine contamination, one resin tube at a time was inoculated for 24 hours in a test tube containing buffered peptone water; 100µL of the resultant inoculate was placed in duplicate in a plaque with BHI agar and in mannitol salt agar. Contamination was observed by total microorganism count in BHI agar cultures, and the presence of Staphylococcus spp. was verified in mannitol salt agar. The control tube showed no contamination. The tubes manipulated after clinical procedures were contaminated right from the first handling session. Each new session showed a higher total count of microorganisms and a higher count of Staphylococcus spp. The results indicate that it is necessary to use disinfection methods and protective barriers to avoid cross-infections by the use of common-use materials.