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.

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.

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.

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.

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.

[Impact of moderate intellectual disability on the dynamics and quality of family life: a qualitative clinical study].

This qualitative clinical study investigated the impact of moderate intellectual disability on family dynamics and quality of life. The data were collected using individual interviews with 15 mothers of children with intellectual disabilities, as a convenience sample, and examined with categorical thematic content analysis. The results were discussed using a comprehensive and interpretative approach.

Teratogens: a public health issue - a Brazilian overview.

Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects.

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Background: Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis.

[New possible determinants of the quality of life of patients with treated thyroid cancer: a qualitative study].

The aim of this study was to develop a qualitative approach of determinant factors of the quality of life of treated patients with papillary thyroid carcinoma. Sixteen in-depth interviews were conducted with individuals 18 to 45 years old regarding their disease representations and experiences, followed by statements content analysis. The results show issues already provided in structured questionnaires about quality of life, although others were only partially assumed in these surveys (management of the concept of disease etiology; the "forced" patient introduction into the medical conceptual universe; the fear of the prognosis and positive changes in lifestyle).

Quality of Life in Adults with Neurofibromatosis 1 in Brazil.

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients' lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1.

[Public health policies for the intellectually disabled in Brazil: an integrative review].

This study presents an integrative review of the scientific literature and federal legislation on public health policies for intellectually disabled in Brazil. Nine articles, published in the PubMed, Scopus, Virtual Health Library and Web of Science databases between 2002 and 2012, were selected. Based on the references of these studies, 6 other articles were identified, totaling 15 studies in the review.

Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil.