Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.

In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.

Teaching and training of human resources for genetics and genomics in Brazil.

This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics.

Development and psychometric evaluation of a questionnaire to measure university students' knowledge on the effects of alcohol use during pregnancy.

Introduction: Alcohol consumption during pregnancy can lead to fetal alcohol spectrum disorders. This study developed and validated a questionnaire to assess university students' knowledge regarding the effects of alcohol during pregnancy.

Methods: We designed an instrument with true-false-I do not know statements.

Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.

Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences.

Objectives: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1.

Methods: This is a descriptive cross-sectional study.

[Trauma Injuries Associated with Rope Bullfights in the Azores: A Cross-Sectional Study].

Introduction: The aim of the study was to describe trauma injuries associated with rope bullfights in the Azores, Portugal, regarding the cause of the incident, trauma mechanism, most affected anatomical areas, and injury severity.

Methods: Two-year cross-sectional study in the local hospital with prospective data collection. Patients who were consecutively admitted to the local hospital's emergency department with trauma injuries from the bull's direct impact or from falls either during the bull's escape or when handling the rope, were included.

Prevalence and antimicrobial resistance profile of pathogens isolated from patients with urine tract infections admitted to a university hospital in a medium-sized Brazilian city.

This study aimed to determine the antibiotic profile of microorganisms isolated from urine samples of patients with community urine tract infections (UTI) admitted to the University Hospital of the Federal University of Sao Carlos to support an appropriate local empirical treatment. A retrospective cross-sectional study was conducted from October 2018 to October 2020. Data from 1,528 positive urine cultures for bacterial pathogens and antibiograms were tabulated.

Exploring spiritual/religious coping strategies among mothers of children with severe or profound intellectual disability during genetic counseling in Brazil.

Parents use several coping strategies to deal with the challenges of caring for children with disabilities. This qualitative study explored the spiritual/religious coping strategies adopted by Brazilian mothers of children with severe or profound intellectual disabilities who were attending the medical genetics clinic for genetic counseling. Individual semi-structured interviews were conducted with 15 participants, selected by convenience.

Enhancing understanding of SARS-CoV-2 infection among individuals with Down syndrome: An integrative review.

Background: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections.

Objective: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS.

Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study.

This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The mean overall FQoL score was 3.

Impact of the SARS-CoV-2 infection in individuals with sickle cell disease: an integrative review.

Unlabelled: Sickle cell disease is the most common hemoglobinopathy among humans. As the condition promotes susceptibility to infections, chronic inflammation, and hypercoagulability disorders, several international agencies have included individuals with this disease in the COVID-19 risk group for severe outcomes. However, available information about the subject is not properly systematized yet.

Growth, survival, and myogenic gene expression in the post-larvae of Colossoma macropomum provisioned with Artemia nauplii.

Artemia nauplii are widely used as fish larvae feed due to its beneficial nutritional characteristics for larval development; however, efficient feeding strategies are needed to balance its high costs. Therefore, we evaluated the effects of different densities of Artemia nauplii (100, 250, 500, 750, and 1000 nauplii/post-larvae) on the growth, survival, water quality, and myogenic gene expression of tambaqui (Colossoma macropomum) post-larvae cultivated in a recirculating aquaculture system. After 2 weeks of trial, there was a significant decrease in dissolved oxygen concentration with the increase in nauplii density, but it did not interfere with larval performance and survival.

Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study.

This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.

Quality of life of Brazilian families who have children with Williams syndrome.

This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL Scale. The overall FQoL score was 3.

Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder.

Background: Intellectual disability (ID) and autism spectrum disorder (ASD) are often concomitant childhood developmental disorders. These disorders can alter family quality of life (FQoL).

Objective: To investigate FQoL among families who have children with mild ID, associated with mild ASD.

Alcohol Consumption During Pregnancy in Brazil: Elements of an Interpretive Approach.

With this research, we aimed to raise elements to enhance the understanding of alcohol consumption among pregnant women in Brazil. Fourteen women identified as alcohol consumers during pregnancy were interviewed. Alcohol consumption during pregnancy seemed to be associated with three groups of interconnected issues: subjective and individual issues (such as expectations, motivations, and women's difficulty in identifying their own consumption as risky); sociocultural and environmental issues (such as alcohol cultural value, easy access, and influence from relatives, friends, and partners); misinformation, inconsistent opinions publicized through media and lack of technically addressing the subject during prenatal care.

Neonatal thyrotropin levels and auditory neural maturation in full-term newborns.

Objective: This study aimed to look for a possible relationship between thyrotropin (TSH) values from neonatal bloodspot screening testing and newborn lower auditory pathway myelinization evaluated using the brainstem evoked response audiometry (ABR) test.

Methods: Sixty-two healthy full-term newborns without perinatal problems were enrolled in the study. TSH results were collected from neonatal bloodspot screening data and were below the test cut-off level (15μUI/mL).

Neonatal screening program for five conditions in Honduras.

We present the initial results of a neonatal screening program in part of the public health system in Honduras, that is, the Honduran Social Security Institute. The program design includes steps from neonatal bloodspot in the first newborn days to evaluation and treatment when necessary. In 2018 and 2019, 19,911 newborns were tested for hypothyroidism, cystic fibrosis, galactosemia, phenylketonuria, and adrenal hyperplasia.

Detoxification of sisal bagasse hydrolysate using activated carbon produced from the gasification of açaí waste.

Due to its recalcitrance and difficult disruption, biomass requires severe treatment conditions to produce bioproducts. These processes also generate substances that inhibit microbial metabolism, resulting in low conversion of sugars into bioproducts. To minimize this, in this work the sisal bagasse acid hydrolysate was detoxified using the activated carbon obtained from residues of the gasification of açaí endocarp.

Motivation for alcohol consumption or abstinence during pregnancy: A clinical-qualitative study in Brazil.

Background: In Brazil, alcohol consumption is estimated to range from 7 to 40% in pregnant women. This research investigated the motivation for alcohol consumption or abstinence during pregnancy in a purposive sample of Brazilian women.

Methods: Clinical-qualitative research was conducted, in which 14 women participated, identified as risk-drinkers during pregnancy by the T-ACE screening tool.

Metastasis of renal cell carcinoma to the parathyroid gland 12 years after radical nephrectomy.

Renal cell carcinoma (RCC) accounts for 2-3% of all malignant tumors in adults. RCC is well-known for its propensity to metastasize to unusual sites, and late metastasis, even after several years, is common. Involvement of the parathyroid gland has only four reported cases in literature.

A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability.

Background: This study investigated the psychocultural perspectives concerning family quality of life among Brazilian families with children who have severe or profound intellectual disability.

Methods: Individual in-depth semi-structured interviews conducted with 15 mothers, selected by convenience, were analysed using a categorical thematic analysis technique. The themes were examined to allow for an interpretative approach of the results.

Effects of intrauterine latent iron deficiency on auditory neural maturation in full-term newborns.

Objective: This study analyzed the relationship between latent iron deficiency evaluated by ferritin, and the myelination of the central nervous system evaluated through the brainstem evoked response audiometry test.

Method: A total of 109 full-term newborns, born without anemia and risk factor for hearing deficiency, were enrolled. After delivery, umbilical cord blood was collected to determine ferritin and hematocrit levels.