Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing

Dois pacientes índices da família analisada neste estudo foram submetidos a adrenalectomia bilateral devido a feocromocitoma. Foi, então, realizado o estudo genético dos pacientes e de sete parentes de primeiro grau. Os dois pacientes com feocromocitoma e dois outros membros assintomáticos da família apresentaram a mutação c496G>T no exon 3 do gene VHL. A família perdeu seguimento médico. Três anos após a realização da avaliação genética, a irmã dos pacientes, portadora da mutação, foi encaminhada para o nosso serviço após uma gestação complicada por pré-eclampsia. Ela referia paroxismos sugestivos de feocromocitoma, mas as metanefrinas urinárias eram negativas. Entretanto, a tomografia computadorizada de abdômen evidenciou uma massa adrenal que também se contrastou na cintilografia com metaiodobenzilguanidina (MIBG). Esse estudo mostra que a análise molecular do paciente índice pode levar à identificação de parentes assintomáticos portadores da mutação. Além disso, mesmo com as metanefrinas urinárias negativas, a identificação de uma mutação específica levou a um aumento da suspeita e detecção de feocromocitoma na irmã dos afetados pela doença.

Correlation between immunoexpression of BCL-2 protein family with apoptosis index, cellular proliferation and survival in colorectal carcinomas

Objectives: To evaluate the Bcl-2, Bax, Bad and Bak immunoexpression in tumor and nontumorous tissue of 130 patients with colorectal carcinoma submitted to surgery at São Paulo Hospital, EPM/ UNIFESP, from 2002 to 2005, and to correlate the immunoexpression data with the apoptotic index (AI, obtained by anti-cleaved caspase 3 and M30 labeling), cell proliferation score (CPS, obtained by Ki-67), immunoexpression of p53 and patient’s clinical prognosis. Results: Positive correlation was verified between Bcl-2 protein family in tumor and nontumor tissue. Only Bcl-2 protein correlated with IA and CPS in the tumor. Positive correlation was observed between pro- -apoptotic proteins and Bcl-2 protein. In the adjacent mucosa, Bcl-2 correlated with Ki-67 and p53, but not with IA. Carcinomas exhibited higher immunoexpression of CPS and IA markers. No correlation occurred between immunoexpression data and patient survival. Conclusion: Positive correlation was observed between the pro-apoptotic proteins of the Bcl-2 family and the anti-apoptotic protein Bcl-2. In the adjacent nontumor mucosa, Bcl-2 correlated with Ki-67 and p53, but not with AI. Carcinomas presented greater immunoexpression for CPS and AI markers; however immunoexpression of these markers was not correlated with patient survival.

Auditory evoked potential: a proposal for further evaluation in children with learning disabilities

The information presented in this paper demonstrates the author's experience in previews cross-sectional studies conducted in Brazil, in comparison with the current literature. Over the last 10 years, auditory evoked potential (AEP) has been used in children with learning disabilities. This method is critical to analyze the quality of the processing in time and indicates the specific neural demands and circuits of the sensorial and cognitive process in this clinical population. Some studies with children with dyslexia and learning disabilities were shown here to illustrate the use of AEP in this population.

Polysomnografic findings of obstrutive sleep apnea in children with adenotonsillar hypertrophy

Serous Background: There are few studies assessing the clinical manifestations of sleep breathing disorders and polysomnograms in several pediatric age ranges. This studied aimed to assess polysomnography results such as apnea-hypopnea index, mean oxygen saturation and sleep efficiency in children presenting with airway obstruction and adenotonsillar hypertrophy complaints, and to establish whether they are correlated to age and sex. Methods: A retrospective study with children of both sexes, aged between 2 and 12 years, with clinically suspected obstructive sleep apnea syndrome and adenotonsillar hypertrophy, who underwent polysomnography before surgery. The children were allocated to groups according to their age range (Group I: 2 to 4 years old; Group II: 5 to 8 years old; Group III: 9 to 12 years old). Apnea-hypopnea index, mean oxygen saturation and sleep efficiency data were compared between sexes and among the three groups (Student’s t test, p < 0.05). Results: Of 167 children studied by polysomnography, 76.6% were of school age and 67% were male. For all studied age ranges, there was no difference between sexes for the investigated parameters (body mass index, apnea-hypopnea index, mean oxygen saturation and sleep efficiency). As regards mean oxygen saturation, Group I showed the lowest value (89.9 ± 6.2). Apnea-hypopnea indexes were higher in male children aged between 2 and 4 years (9.9 ± 5.2). Group III had the lowest sleep efficiency (84.1 ± 9.2). Conclusion: There was a predilection of more severe cases of obstructive sleep apnea syndrome for children younger than four years, shown by higher apnea-hypopnea index per hour and lower mean oxygen saturation in this age range.

Backpacks and school children's obesity: challenges for public health and ergonomics

This descriptive study of cross sectional has focused on analyzing the school material weight transported by students associated with children and adolescents overweight in primary and secondary schools. Participants 339 students of both genders, aged 10-19 years. 243 students carrying and average load of 12.65% of his body weight. 53 students were overweight with a BMI of 20,00 to 35,6. 20 overweight students carrying backpacks more than 10% of his body weight. 21% of the students rated complained of back and shoulder pain. This data is very important in the preventive aspects for the individuals studied, as well as others with the same anthropometric characteristics and the same demand.

Pollination Biology of Jacaranda oxyphylla with an Emphasis on Staminode Function

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

HB D Los Angeles in a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Consumption of bottled water by children in the city of Bauru, State of São Paulo, Brazil - A brief communication

Objectives: To determine the consumption of bottled water by children in the city of Bauru, State of São Paulo, Brazil. Methods: A stratified sample of the 17 areas established by the city plan was used to identify a total of 1,000 homes for visitation. Information was collected using a questionnaire concerning the type of water consumed and population demographics. Results: Overall, around 30 percent of all residences used bottled water. Among all households where bottled water was consumed, about 26 percent had children residing. For those with children and bottled water, 81 percent reported to use bottled water for the preparation of the children's foods and beverages. Conclusions: An important percentage of children consume bottled water in the city of Bauru, State of São Paulo, Brazil. Considering previous studies showing that fluoride concentrations vary in bottled water, public health measures should be implemented in order to guarantee adequate levels of fluoride in commercialized water. © 2007, American Association of Public Health Dentistry.

Conflitos conjugais e seus efeitos sobre o comportamento de crianças: Uma revisão teórica

Marital conflicts have been largely investigated in research, especially because of its impact on child development. Based on a literature review, this article aims to present some reflections about marital conflicts and its possible associations with children's behavior, particularly through parental practices. Emphasis is made on a systemic view of causality between marital conflict and child behavior, which offers a better comprehension of the family functioning. This perspective also allows us to enlarge the analysis scope beyond linear correlations between both variables.

Psychosocial factors for risk and protection to child malnutrition in mothers of malnourished and eutrophic children: the role of maternal mental health

In this study, the relationship between child malnutrition, depression, anxiety and other maternal socio-demographic variables was investigated in mothers of malnourished (MD) and eutrophic (ME) children. The causes attributed by mothers to malnutrition were also studied. Ten mothers from each group, with children aged from 11 months to three years and who were users of primary health care units, participated in the study. They answered Beck depression and anxiety inventory, a questionnaire on vital events and an open question concerning the causes of malnutrition. The evaluation instruments were corrected according to proper guidelines and comparative analyses between the groups were performed. The answers to the open question were qualitatively evaluated, submitted to content analysis. The mothers in the two groups were nearly 30 years old or older. They had a steady partner and were subject to very similar life conditions. They had attended school for 5.5 years and were housewives or worked in low-income jobs. Concerning mental health indicators, a significantly larger number of mothers in the MM group showed depression indicators when compared to mothers in the EM group. Most mothers attributed malnutrition to biological factors or to the lack of maternal care, with more moralist statements in the EM group, and statements filled with guilt in MM. Results suggest that in order to fight malnutrition, in addition to nutritional interventions, it is necessary to heed attention to maternal socio-emotional issues.

Concepções de professores sobre agressão e violência em crianças no início da escolarização

Pós-graduação em Educação Escolar - FCLAR

Trabalho com famílias na educação infantil: concepções e práticas

Pós-graduação em Educação - FCT

Os significados do acolhimento institucional de crianças e adolescentes sob a perspectiva dos profissionais do judiciário

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)