Association Between Intellectual Disability and Hair Cortisol Concentration in Adolescents in a Brazilian Population-Based Birth Cohort.

Objective: Children with intellectual disability (ID) usually exhibit neuroendocrine functioning impairment, such as alterations in the hypothalamic-pituitary-adrenal (HPA) neuroendocrine axis, which can result in glucocorticoid cortisol release alterations. Indeed, many studies showed a positive association between ID and cortisol concentration. However, evidence is lacking on the relationship between child neurodevelopment and cortisol levels during adolescence in population-based studies.

Medical care in clinical genetics: an experience of decentralization in southern Brazil.

Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care.

Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc).

Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society.

Congenital anomalies in Rio Grande do Sul State: a time series analysis.

Introduction: In Rio Grande do Sul Sate (Brazil), the incidence of congenital anomalies ranges from 10 to 15/1,000 live births. Identifying risk factors can change congenital anomalies frequency and neonatal mortality. This paper intends to analyze temporal variation of congenital anomalies in the State of Rio Grande do Sul, from 2005 to 2014, and to identify the factors associated with its occurrence.

PROGRESSIVE OSSIFYING FIBRODYSPLASIA: CASE REPORT.

Progressive ossifying fibrodysplasia is a rare genetic disease that affects one individual in every two million births. Its main consequence is heterotopic ossification, i.e.

DOOR syndrome: report of three additional cases.

Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.