ABSTRACT
Down syndrome is the main genetic cause of intellectual disability. Many studies describe the clinical characteristics of DS patients; however, few have investigated the clinical profile of mothers who have children with DS. Advanced maternal age (≥ 35 years old) is a risk factor for DS. Although there is an overall increase in pregnancies among women with advanced maternal age, there is still a lack of awareness of the increased risk of aneuploidy. Here, we reported the clinical and epidemiological profile of DS children and their mothers in a public reference hospital in the State of Rio de Janeiro, Brazil. For data collection, we performed a face-to-face interview guided by a structured questionnaire with closed-ended questions. A total of 344 individuals, 172 mothers and their DS children, were included in this study. Our results show that 56% of the mothers sampled were ≥ 35 years of age at childbirth. Although 98% of them received prenatal care, only 4% obtained a prenatal diagnosis of DS. Most mothers reported not drinking alcohol or smoking cigarettes during pregnancy. Furthermore, 91% of women took prenatal vitamins and supplements; however, 47% were not aware of their benefits for a healthy pregnancy. Given the strict correlation between advanced maternal age and DS, prenatal care should include genetic counseling for women over 35 years of age. This study highlights the importance of prenatal care and the urgent need for better DS screening allowing for immediate postnatal care, positively impacting the life expectancy of these patients.
ABSTRACT
The purpose of this study was to establish a subsampling procedure for benthic macroinvertebrates to aid in the development of a multimetric index to assess the biological condition of streams. Data from six streams that are considered minimally impaired were used. Subsampling was done using a device divided into 24 quadrats. The sediment from each quadrat was sorted, and all organisms were removed and identified. Richness metrics were the most affected by subsample size. Relative-abundance metrics were the most stable, proving that the sample was well distributed throughout the tray and abundance proportions were maintained. The results showed that the macroinvertebrate assemblage present in the six quadrats was similar to that present in the full sample. These analyses indicated that six quadrats, randomly designated, with a minimum of 200 collected specimens could be used in place of the full sample. In routine water management, managing time and costs are a major challenge; therefore, this type of simplification is absolutely necessary to ensure that a biomonitoring tool is useful for practical applications.
