Application of fluorescent in situ hybridization for ‘de novo’ anomalies in prenatal diagnosis

Fluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in all three cases, which gives a better insight into the relationship between genotype and phenotype and makes more adequate genetic counselling possible.     

Detection of fetomaternal haemorrhage associated with cordocentesis using serum α-fetoprotein and the kleihauer technique

Fetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. α-Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than 0.25 ml was detected in 46 per cent of the cases by the Kleihauer test. In the second trimester of pregnancy both techniques are comparable, while in the third trimester the Kleihauer technique appears to be more sensitive in detecting FMH after cordocentesis. An anterior position of the placenta is a risk factor for FMH.     

Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case

A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.     

Prenatal ultrasound diagnosis of the Holt-Oram syndrome

The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.     

Social and hospital costs of patients admitted to a university hospital in Brazil due to motorcycle crashes

Objective: This study aimed to investigate the social and hospital costs of patients treated at a public hospital who were motorcycle crash victims.

Method: This prospective study was on 68 motorcycle riders (drivers or passengers), who were followed up from hospital admission to 6 months after the crash. A questionnaire covering quantitative and qualitative questions was administered.

Results: Motorcycle crash victims were responsible for 12% of the institution's hospital admissions; 54.4% were young (18–28 years of age); 92.6% were the drivers; 91.2% were male; and 50% used their motorcycles as daily means of transportation. Six months afterward, 94.1% needed help from someone; 83.8% had changed their family dynamics; and 73.5% had not returned to their professional activities. Among the injuries, 94.7% had some type of fracture, of which 53.5% were exposed fractures; 35.3% presented temporary sequelae; and 32.4% presented permanent sequelae. They used the surgical center 2.53 times on average, with a mean hospital stay of 18 days. The per capita hospital cost of these victims’ treatment was US$17,481.50.

Conclusion: The social and hospital costs were high, relative to the characteristics of a public institution. Temporary or permanent disability caused changes to family dynamics, as shown by the high numbers of patients who were still away from their professional activities more than 6 months afterward.     

Environmental practices of governance of companies in emerging markets: An analysis of structural relationships

The aim of this study is to analyze the structural relationships between strategy, environmental performance, and disclosure in view of the lack of research on these endogenous activities. To analyze these relationships, an environmental governance proxy consisting of five dimensions was developed for Brazilian companies. Hence, from an economic perspective, a trend is expected of companies disclosing more information and maintaining an environmental governance structure to avoid or reduce potential political costs. Using the structural equation technique, 573 Brazilian companies were analyzed. According to the results, the Brazilian companies’ mean compliance level with environmental governance practices is 49.2%. There is evidence of a positive association between the governance structure and the environmental management system (GSEM) as well as environmental performance (EP) and environmental disclosure levels (DISC). In addition, the level of environmental conflicts of interest a sector faces increased the need for environmental disclosure. Furthermore, the results demonstrate that the latent variables, GSEM and EP, exert direct and indirect positive effects on DISC. In other words, companies with more structured environmental management systems have obtained better performance indicators, and consequently, are more likely to feel encouraged to disseminate environmental information and to reduce political costs than is the case with other companies.     

Gastroenteric Viruses Detection in a Drinking Water Distribution-to-Consumption System in a Low-Income Community in Rio de Janeiro

Food and Environmental Virology - The availability of drinking water is one of the main determinants of quality of life, disease prevention and the promotion of health. Viruses are important agents...