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; Homo sapiens; . 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 36.2 kb deletion in the gene of glutamate receptor delta 2 (; GRID2; ) in the patients, resulting in the lack of a coding region from the fifth to the seventh exons. The; GRID2; gene is highly expressed in the cerebellum cortex from prenatal development to adulthood, specifically in Purkinje neurons. Deletion in this gene leads to the loss of the alpha chain in the extracellular amino-terminal protein domain (ATD), essential in protein folding and transport from the endoplasmic reticulum (ER) to the cell surface. Then, we studied the evolutionary trajectories of the; GRID2; gene. There was no sign of strong selection of the highly conservative; GRID2; gene in ancient hominids (Neanderthals and Denisovans) or modern humans; however, according to in silico tests using the Mfold tool, the; GRID; 2 gene possibly gained human-specific mutations that increased the stability of; GRID2; mRNA

Increased micronucleated cell frequency related to exposure to radiation emitted by computer cathode ray tube video display monitors

It is well recognized that electromagnetic fields can affect the biological functions of living organisms at both cellular and molecular level. The potential damaging effects of electromagnetic fields and very low frequency and extremely low frequency radiation emitted by computer cathode ray tube video display monitors (VDMs) has become a concern within the scientific community. We studied the effects of occupational exposure to VDMs in 10 males and 10 females occupationally exposed to VDMs and 20 unexposed control subjects matched for age and sex. Genetic damage was assessed by examining the frequency of micronuclei in exfoliated buccal cells and the frequency of other nuclear abnormalities such as binucleated and broken egg cells. Although there were no differences regarding binucleated cells between exposed and control individuals our analysis revealed a significantly higher frequency of micronuclei (p < 0.001) and broken egg cells (p < 0.05) in individuals exposed to VDMs as compared to unexposed. We also found that the differences between individuals exposed to VDMs were significantly related to the sex of the individuals and that there was an increase in skin, central nervous system and ocular disease in the exposed individuals. These preliminary results indicate that microcomputer workers exposed to VDMs are at risk of significant cytogenetic damage and should periodically undergo biological monitoring

Fatores genéticos e ambientais associados a espinha bífida Genetic and ambient factors and profile of the newborns with spina bifida

OBJETIVOS: analisar a freqüência e os fatores associados à ocorrência da espinha bífida. MÉTODOS: os dados foram obtidos por meio de entrevista de 47 casos e 47 controles, nascidos nas cinco maternidades da cidade de Pelotas, durante o período de 1 de Janeiro de 1990 a 31 de Dezembro de 2003. É estudo com delineamento de caso-controle, de base populacional que abrangeu todos os nascimentos hospitalares. O controle foi o neonato normal que nasceu após cada caso com malformação. Todos os dados foram obtidos mediante questionário-modelo. A análise do planejamento de análise de dados incluiu o uso do teste t de Student, chi&sup2; e odds ratio. RESULTADOS: ocorreram aproximadamente 77.000 nascimentos nesse período. Desses, 1.043 (1,3%) apresentaram algum tipo de malformação congênita. Dentre essas, 47 de 162 anomalias do fechamento do tubo neural foram diagnosticadas como espinha bífida. Foram encontradas diferenças significativas quanto ao número de natimortos prévios, bem como proporção superior de casos de espinha bífida em recém-nascidos do sexo feminino. Neste estudo, muitos fatores como o uso de medicamentos; doenças agudas; afecções crônicas; número de gestações; idade, escolaridade e ocupação dos pais, entre outros, não mostraram associação com o nascimento de recém-nascido com espinha bífida. CONCLUSÕES: a espinha bífida deve ser considerada como importante fator de risco para a morbidade perinatal, e sua ocorrência está associada a um histórico gestacional de natimortos prévios.<br>PURPOSES: to analyze the frequency, associated risk factors for the occurrence of spina bifida and differences between the newborns carrying this malformation and the newborns' morbidities. METHODS: data were obtained through interview of 47 cases and 47 controls, born in the five maternities of the city of Pelotas, during the period from January 1, 1990 to December 31, 2003. This is a population-based case-control study, comprising all births occurred in hospitals. The control was the normal newborn that was born after each case with spina bifida. All data were obtained by using the model ECLAMC questionnaire. The planning of analysis of data included the use of the Student's t test, chi&sup2; and odds ratio. RESULTS: in this period there were approximately 77,000 births. Of these, 1,043 (1.35%) presented some type of congenital malformation. Among these, 47 of 162 anomalies of the neural tube (29%) were spina bifida cases. Significant differences have been found in the number of previous stillborn babies, as well as a higher rate of spina bifida cases in females. In this study, many factors such as the use of medical drugs; acute and chronic illnesses; number of gestations; age, education and occupation of the parents, among others, did not influence the occurrence of spina bifida. CONCLUSIONS: spina bifida must be considered as an important factor of risk for perinatal morbidity, and its occurrence is associated with a history of previous stillborn babies

Avaliação da atividade mutagênica da infusão de Baccharis trimera (Less.) DC. em teste de Allium cepa e teste de aberrações cromossômicas em linfócitos humanos

A carqueja (Baccharis trimera(Less.) DC.) é uma planta medicinal da família Asteraceae muito utilizada como chá no sul do Brasil no tratamento de doenças renais, intestinas, estomacais e principalmente como emagrecedora. O objetivo desde trabalho foi de avaliar a mutagenicidade in vivoe in vitrodo chá e para isso foi realizado o teste de Allium cepaL. e o de aberrações cromossômicas em linfócitos humanos utilizando quatro tratamentos: T1 (água); T2 (20 g/L de carqueja); T3 (200 g/L de carqueja), e T4 (paracetamol, a 400 mg/L). Ambos os procedimentos foram analisados pelo teste Mann-Whitney U. Este estudo evidencia um efeito mutagênico do chá em células vegetais (Allium cepa) e em células humanas (aberrações cromossômicas) cultivadas, pois em ambos os testes, T2 e T3 obteve-se uma média mais elevada que nos outros tratamentos. Este estudo demonstra que o efeito é dependente da dose, portanto recomenda-se que o chá de carqueja seja consumido com moderação

Jornal de Pediatria Epidemiology of polydactylies: a case-control study in the population of Pelotas-RS

Abstract Objective: to identify and compare cases of isolated polydactyly with healthy newborns regarding familial and maternal characteristics. Methods: we conducted this hospital-based case-control study from 1990 to 1998. We collected data in interviews with mothers of cases and controls during the post-delivery period. Cases were defined as newborns presenting an extra or a bifid digit in hands and/or feet. Controls were the four healthy newborns that were born after the case, at the same hospital. Information was gathered on type of polydactyly, gender and birthweight, twin pregnancy, parental consanguinity, ethnicity. Results: African ancestry and positive family history of congenital malformation, especially polydactyly, were significantly associated with the occurrence of this type of congenital anomaly (crude OR of 3.3; 10.0; and 55.0, respectively). Conclusion: isolated polydactyly was one of the most frequent malformations found in the studied population. The findings associated with black African ancestry confirm the data presented in the literature. Studies conducted on this same population, with a larger population of patients with this type of malformation, could investigate this association better and justify the results presented here. J Pediatr (Rio J) 2001; 77 (2): 148-52: polydactyly, birth defects, blacks/genetics