Objective: This study aimed to assess the knowledge of puerperal mothers about the Guthrie test. Methods: A total of 75 mothers who sought primary care between October 2014 and February 2015 were investigated. The form was applied by the main researcher and the data was analyzed, using descriptive statistics with Microsoft Office Excel, and Statistical Package for Social Sciences (SPSS) programs. Association tests and statistical power were applied.Results: Among the 75 mothers, 47 (62.7%) would have liked to receive more information about the newborn screening, especially regarding the correct sample collection period, followed by the screened morbidities. Most participants (n=55; 85.9%) took their children to be tested between the third and the seventh day of birth, as recommended by the Brazilian Health Ministry. Fifty-four women (72%) were unable to name the morbidities screened by the test in Minas Gerais, and they were also unaware that most have genetic etiology. The health professional who informed the mother about the Guthrie test was mainly the physician. This information was given prenatally to 57% of the cases, and to 43 % at the time of discharge from the hospital. The association test showed that mothers with higher education have more knowledge about the purpose and importance of the Guthrie test. The statistical power was 83.5%.Conclusions: Maternal knowledge about the Guthrie test is superficial and may reflect the health team’s usual practice.

TNF-alpha plays an important role in trypanocidal mechanisms and is related to tissue injury. This cytokine has been detected in the heart of human chagasic patients where it is associated with tissue damage. This study investigated whether TNF-alpha levels and the presence of genetic polymorphisms are associated with the presence of T. cruzi infection and/or with the development of the cardiac form in chronic chagasic patients. Genomic DNA of 300 subjects from an endemic area was extracted and analyzed by PCR using specific primers. TNF-alpha was assayed in culture supernatants by ELISA. An association was observed between the absence of the TNF-238A allele and negative serology. Furthermore, seropositive individuals carrying the TNF-238A allele produced significantly higher TNF-alpha levels without stimulation (p = 0.04) and after stimulation with LPS (p = 0.007) and T. cruzi antigens (p = 0.004). The present results suggest that the polymorphism at position -238 influences susceptibility to infection and that this allele is associated with higher TNF-alpha production in seropositive individuals.

Thus, the interleukin 1 alpha gene could be used as a therapeutic tool for the diagnosis, as well as for monitoring the patients.

ObjetivoDescrever o conhecimento dos profissionais de saúde sobre a triagem neonatal.MétodosTrata-se de um estudo exploratório, descritivo, quantitativo realizado com 122 profissionaisde saúde (57 enfermeiros, 57 técnicos de enfermagem e 8 médicos) que trabalhavamnas Unidades Básicas de Saúde de Uberaba, Minas Gerais. Os participantes responderama um questionário semiestruturado e os dados foram analisados de forma descritiva.ResultadosHouve predomínio do sexo feminino (93,5%) e idade média de 39 anos. Quanto àsdoenças detectadas pela triagem neonatal, a fibrose cística e anemia falciforme foram citadas por 89,4% dos participantes, a fenilcetonúria e hipotireoidismo congênitopor 78,9% e 75,6%, respectivamente, e a hiperplasia adrenal congênita por 43,1%.Apenas 24,4% dos participantes mencionaram a deficiência da biotinidase. A maioriados participantes (aproximadamente 90.0%) citaram que a triagem neonatal dever serrealizada entre o terceiro e o sétimo dias de vida do neonato e que sua finalidade éa detecção de doenças tratáveis. Quanto ao momento ideal para orientações sobre atriagem neonatal, a maioria citou o pré-natal (74,8%) seguido pela alta hospitalar e antesda coleta do exame, com valores de 43,1% cada. Cerca de 30.0% dos participantesnão sabiam para onde encaminhar as amostras após a coleta e 70.0% não realizaramreciclagens sobre o assunto.ConclusãoOs resultados mostram um conhecimento insuficiente sobre triagem neonatal. Essa lacunapoderia ser preenchida com ações de educação continuada, que proporcionariam umamelhora na qualidade da assistência prestada ao binômio mãe/filho.

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/ trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.

Exposure to certain chemical agents causes damage to the genetic material. There is controversy about the genotoxic and/or mutagenic effect caused by acute or chronic anesthetics exposure. The aim of this research was to assess and compare the frequency of micronuclei (MN) in professionals working in operating rooms and other hospital areas. The genotoxic and cytotoxic effects were evaluated in lymphocytes using the micronucleus test and the proliferative index, respectively. We examined peripheral blood lymphocyte cultures from 30 operating room professionals (exposed group) and 30 professionals non-exposed in other hospital areas of the same hospital (control group). There was no statistically significant difference in proliferative index between the groups. Nevertheless, there was an increase in MN frequency in binucleated (BN) cells in the exposed group (p=0.0003) compared to the control group. Moreover, there was a statistically significant difference between genders (p=0.0187), and the frequency of MN in BN cells from women was higher than in men. Therefore, gender influenced the frequency of MN. The age and period of working time in an operating room influenced the MN frequency only in women professionals. Thereby, there was a genotoxic effect in occupationally exposed professionals, and the micronucleus test could be used in the biomonitoring of human populations for evaluating the risk of developing cancer.

In conclusion, although the screening results were significant only to the RFC1 A80G polymorphism, the other determinations of the genetic factors associated with abnormal chromosome segregation could be helpful in future studies, including other polymorphisms involved in folate metabolism.

Down syndrome (DS) is the most common disease due to an autosomal aneuploidy in live born children and also the major known genetic cause of mental retardation. The risk of a DS pregnancy increases substantially with increasing maternal age. However, several women aged less than 35 years at conception have a child with DS. The micronucleus (MN) assay can identify chromosome breakage or chromosome malsegregation and is an ideal biomarker to investigate genomic instability. The aim of the present study was to determine the frequency of peripheral lymphocytes with MN in the parents of DS individuals. The subjects were 17 couples, 1 father and 9 mothers, and 24 couples who had at least one healthy child formed the control group. For each individual we evaluated the frequency of binucleated micronucleated lymphocytes (BNMN%) as number of binucleated lymphocytes containing one or more MN per 1000 binucleated cells. The mean age of DS parents and controls was 32.6 and 29.8 years, respectively. The frequency of MN in DS parents was significantly higher compared to controls. The higher frequency of MN in DS parents suggests a higher predisposition of DS parents to aneuploidy events in this sample.