Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Bipedalism, speech, and intellect are the most prominent traits that emerged in the evolution of . Here, we describe a novel genetic cause of an "involution" phenotype in four patients, who are characterized by quadrupedal locomotion, intellectual impairment, the absence of speech, small stature, and hirsutism, observed in a consanguineous Brazilian family. Using whole-genome sequencing analysis and homozygous genetic mapping, we identified genes bearing homozygous genetic variants and found a homozygous 36.

Alterations of ectonucleotidases and acetylcholinesterase activities in lymphocytes of Down syndrome subjects: relation with inflammatory parameters.

Background: Subjects with Down syndrome (DS) have an increased susceptibility to infections and autoimmune disorders. ATP, adenosine, and acetylcholine contribute to the immune response regulation, and NTPDase, adenosine deaminase (ADA) and acetylcholinesterase (AChE) are important enzymes in the control of the extracellular levels of these molecules. We evaluated the activities of these enzymes and the cytokine levels in samples of DS individuals.

[Monitoring the genotoxic action in shoe workers by micronucleus test, Pelotas, Rio Grande do Sul State].

In this paper it was investigated the micronuclei frequency in exfoliated oral mucosa cells in shoe shop workers in the city of Pelotas, RS. The study counted on 54 shoe workers exposed to glue and solvents and 54 controls. It was evaluated the incidence of cells with micronucleus (CMN), bi-nucleus (CBN), linked nucleus (CLN) and total amount of anomalies (TAA), in 2000 cells per person.

[Oral health conditions diagnostic in cerebral palsy individuals of Pelotas, Rio Grande do Sul State, Brazil].

Cerebral Palsy (CP) is an encephalic static lesion defined as a non-progressive disorder of movements and posture. It is usually associated with epilepsy, speaking, hearing and sight disorders and also mental retardation. Even though, people who have CP need special care for the prevention of factors linked to oral problems, in the odontological context, the literary information is contradictory when it comes to the incidence of oral diseases on patients who have cerebral palsy.

[Prevalence of antidepressant use and associated factors among adults in Pelotas, Rio Grande do Sul State, Brazil, 2006].

The objective of this study was to estimate the prevalence and determinants of antidepressant use among adults in a city in southern Brazil. The cross-sectional study was based on interviews with adults 40 years or older living in the urban area of Pelotas, Rio Grande do Sul State, Brazil, 2006. The chi-squared test was used for comparisons between proportions.

[Prevention of neural tube defects: prevalence of folic acid supplementation during pregnancy and associated factors in Pelotas, Rio Grande do Sul State, Brazil].

To determine folic acid use and associated factors, a cross-sectional population-based study was conducted in all five maternity hospitals in Pelotas, Rio Grande do Sul State, Brazil. Data were collected from April 1 to August 15, 2006 (n = 1,450 women). A standard questionnaire was applied in the hospitals.

A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.

This article describes the case of four brothers, born of a consanguineous couple, that present a severe mental retardation syndrome, coarse facial characteristics, hirsutism, quadrupedal gait (pithecoid walk), small stature, absence of speech, strabismus as well as having small hands and feet. This case seems to be a behavioral syndrome, which was inherited in an autosomal recessive manner not previously recorded.

Community diagnosis of maternal exposure to risk factors for congenital defects.

Objectives: This paper describes a community diagnosis of maternal exposure to risk factors for congenital defects in the population of Pelotas, RS, Brazil (400000 inhabitants). The authors investigated biological and demographic factors (maternal age, alcohol ingestion and smoking), social and economic factors (family income and type of work), and welfare factors (prenatal care, illnesses during pregnancy, drug therapy, and vaccinations). These factors were matched up with the Decalogue for Prevention of Congenital Defects recommended by the Latin American Collaborative Study of Congenital Malformations.