A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child

Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSH beta -subunit, the TSH receptor, the G(A)alpha -subunit, and the transcription factor PAX8. Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). Mutations in the coding region of the TSH beta -subunit gene, the TSH receptor gene, and exons 8 and 9 of G(mu)alpha had been excluded previously. Serum TSH concentrations were 150 mU/liter or more, TG levels were within normal limits, and thyroid autoantibodies were absent. Technetium scintigraphies did not reveal the presence of thyroid tissue, but ultrasonography documented hypoplastic, normally located glands.One patient was found to harbor a heterozygous transversion 119A -->C in exon 3 of PAX8 replacing a conserved glutamine by proline in the paired box domain (Q40P). Analysis of her family members revealed that her mother, who has a thyroid gland of normal size and mild, adult-onset autoimmune hypothyroidism, is also heterozygous for this mutation. Functional analyses of the PAX8 Q40P mutation showed impaired binding to a PAX8 response element and absent transactivation of a thyroid peroxidase promoter luciferase reporter gene.These findings confirm the important role of PAX8 in the development of the thyroid, but they indicate that PAX8 gene mutations may have a variable penetrance or expressivity. The absence of mutations in the coding sequences of the analyzed genes in the three other patients supports the concept that the pathogenesis of congenital hypothyroidism associated with thyroid hypoplasia is diverse.

Health surveys and use of maternal and child health care services in three municipalities within the São Paulo metropolitan area

Objectives. To describe the changes in the use of maternal and child health care services by residents of three municipalities-Embu, Itapecerica da Serra, and Taboao da Serra-in the São Paulo metropolitan area, 12 years after the implementation of the Unified Health System (SUS) in Brazil, and to analyze the potential of population-based health care surveys as sources of data to evaluate these changes.Methods. Two population-based, cross-sectional surveys were carried out in 1990 and 2002 in municipalities located within the São Paulo metropolitan area. For children under 1 year of age, the two periods were compared in terms of outpatient services utilization and hospital admission; for the mothers, the periods were compared in terms of prenatal care and deliveries. In both surveys, stratified and multiple-stage conglomerate sampling was employed, with standardization of interview questions.Results. The most important changes observed were regarding the location of services used for prenatal care, deliveries, and hospitalization of children less than 1 year of age. There was a significant increase in the use of services in the surrounding region or hometown, and decrease in the utilization of services in the city of São Paulo (in 1990, 80% of deliveries and almost all admissions for children less than 1 year versus 32% and 46%, respectively, in 2002). The use of primary care units and 24-hour walk-in clinics also increased. All these changes reflect care provided by public resources. In the private sector, there was a decrease in direct payments and payments through company-paid health insurance and an increase in payments through self-paid health insurance.Conclusions. The major changes observed in the second survey occurred simultaneous to the changes that resulted from the implementation of the SUS. Population-based health surveys are adequate for analyzing and comparing the utilization of health care services at different times.

Tradução e adaptação transcultural do Caregiver Priorities and Child Health Index of Life with Disabilities Questionnaire (CPCHILD©) para a lingua portuguesa do Brasil

Pós-graduação em Bases Gerais da Cirurgia - FMB

As representações sociais de pais sobre a pensão alimentícia: entre a ajuda e o direito

Pós-graduação em Serviço Social - FCHS

A new short and simple health-related quality of life measurement for paediatric rheumatic diseases: initial validation in juvenile idiopathic arthritis

Objective. To develop and validate a new short and simple measure of health-related quality of life (HRQL) in children with juvenile idiopathic arthritis (JIA).Methods. The Paediatric Rheumatology Quality of Life Scale (PRQL) is a 10-item questionnaire that explores HRQL in two domains: physical health (PhH) and psychosocial health (PsH). Validation of the parent proxy report and child self-report versions of the instrument was accomplished by evaluating 472 JIA patients and similar to 800 healthy children. Validation analyses included assessment of feasibility, face and content validity; construct and discriminative ability; internal structure and consistency; test-retest reliability; responsiveness to clinical change; and minimal clinically important difference.Results. The PRQL was found to be feasible and to possess both face and content validity. The PRQL score correlated in the predicted range with most of the other JIA outcome measures, thereby demonstrating good construct validity, and discriminated well between different levels of disease severity. Assessment of internal structure (factor analysis) revealed that the PhH and PsH subscales identify two unambiguously separated domains. The internal consistency (Cronbach's alpha) was 0.86. The intraclass correlation coefficient for test-retest reliability was 0.91. The PRQL revealed fair responsiveness, with a standardized response mean of 0.67 in improved patients. Overall, the PRQL appeared to be more able to capture physical HRQL than psychosocial HRQL.Conclusion. The PRQL was found to possess good measurement properties and is, therefore, a valid instrument for the assessment of HRQL in children with JIA. This tool is primarily proposed for use in standard clinical care.

Surface dental enamel lead levels and antisocial behavior in Brazilian adolescents

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Práticas educativas e problemas de comportamento: uma análise à luz das habilidades sociais

Este artigo tem por objetivo analisar as relações entre práticas educativas dos pais e problemas de comportamento dos filhos, à luz do referencial teórico-prático do treinamento em habilidades sociais. A forma como os pais educam seus filhos parece ser crucial à promoção de comportamentos socialmente adequados, porém, com freqüência, as famílias acabam estimulando comportamentos inadequados por meio de disciplina inconsistente, pouca interação positiva, pouco monitoramento e supervisão insuficiente das atividades da criança. Considera-se que os pais, para promoverem comportamentos adequados em seus filhos, necessitam ter habilidades sociais educativas, tais como expressar sentimentos e opiniões, estabelecer limites evitando coerção, entre outras. Conclui-se que, intervenções com pais, com a finalidade de promover habilidades sociais educativas, são importantes meios para prevenção e redução de problemas de comportamento em crianças, de forma a evitar dificuldades escolares e de socialização na meninice e na adolescência.

Genotoxicity of cigarette smoking in maternal and newborn lymphocytes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A phylogenetic analysis of Pleurodema (Anura: Leptodactylidae: Leiuperinae) based on mitochondrial and nuclear gene sequences, with comments on the evolution of anuran foam nests

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Evaluation of nutritional indicators and body composition in patients with advanced liver disease enrolled for liver transplantation

PURPOSE: Malnutrition is prevalent in patients with advanced liver disease (LD) related to multifactorial causes. Fluid retention can underestimate the nutritional status based on anthropometric measures. We evaluated nutritional indicators and body composition (BC) in patients with liver cirrhosis and correlated them with LD severity. METHODS: Forty three patients with LD enrolled for liver transplantation were evaluated by Anthropometric measures, subjective evaluation (Global Assessment of Nutritional Status - SGA) and biochemical indicators. Single-frequency electrical bioimpedance (SFE-BIA) was used to evaluate body composition (BC). It measured resistance (R), reactance (Xc) and the phase angle (PA). LD severity was estimated by Child-Pugh and Meld criteria (Model for End-Stage Liver Disease). RESULTS: Child-Pugh index between patients was 7.11±1.70 and Meld was 12.23±4.22. Arm Circumference, Arm Muscle Circumference and Arm Muscle Area, SGA, hemoglobin, hematocrit and albumin showed better correlation with disease severity. Xc and PA showed correlation both with Meld and Child-Pugh score when BC were evaluated. PA was depleted in 55.8% of the patients. CONCLUSIONS: Diagnosis of malnutrition varied according to the method. Global assessment of nutritional status showed better correlation with disease severity than with objective methods. Single-frequency electrical bioimpedance for body composition analysis in cirrhotic patients must be cautiously used; however, primary vectors seems to be valid and promising in clinical practice.

Social aspects of dental caries in the context of mother-child pairs

The relationship between mother and child in the context of oral health has traditionally been exposed by the scientific literature in microbiology, which lacks a broad and necessary discussion of health and illness seen as processes, both biological and social. Objective: Investigate the family social determinants associated with the caries history of children and the need for dental treatment (NDT) among their mothers was the objective of this study. Material and Methods: This research employed a cross-sectional study of mother-child pairs living in southern Brazil. Data collection occurred in public institutions of early childhood education. The instruments included a structured questionnaire administered to mothers and clinical oral examinations of the mothers and children. The social variables considered were marital status, maternal education, number of children, income, employment status, and frequency of visits to a dental professional. The measured outcomes were the maternal NDT and child caries history. Data were analyzed by the chi-square test (chi 2) and by discriminant analysis. Results: The final sample consisted of 272 mother-child pairs and it was found that the greatest need for treatment was among mothers with low educational level and low family income who rarely or never visited a dentist. Tooth decay was less frequent in only child, and most frequent in children of mothers with low educational attainment, and in children in lower income households who rarely or never visited the dentist. The social determinants of caries in children and of the maternal NDT were similar. It follows that the maternal NDT and caries history among children were strongly associated with maternal education (p<0.0001), household income (p<0.0001), and frequency of visits to a dental professional (0.0018). Caries history among children was also associated with number of children in the household (p<0.0001). Conclusions: The results suggest that the caries experience in children depended less on the family social variables than on the maternal NDT.

Assessing Paternity in Japanese Quails (Coturnix Japonica) Using Microsatellite Markers - Inferences for Its Mating System and Reproductive Success

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Body mass index, dental caries and sugar intake in 2-5 year-old preschoolers

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Medicinal plants in pregnancy and lactation: perception of the health risk and practical educational group in Araraquara, São Paulo State, Brazil

The use of medicinal plants among pregnant women and lactating is a common practice in diverse countries. However, many medicinal plants are contraindicated during pregnancy and lactating, due to various adverse effects, such as teratogenic, embryotoxic and abortive effects, exposing these women, their fetus and babies to health unknown risks. Thus, the purpose of this commentary, was to analyze the perception about the use of medicinal plants by pregnant women and lactating registered in the "baby on board" NGO, Araraquara, São Paulo state, Brazil, between 2010 at 2013. The group was constituted by 48 women, between the first and last trimester of pregnancy or whilst breastfeeding. Information was collected during group meetings by oral interview, using a questionnaire, as script. The nature of the study was a qualitative analysis. The results were based on reports about the use of medicinal plants by pregnant women during group meetings: use, indication of use, knowledge about risks. All participants received written and oral information about the study and they gave a written informed consent. The use of medicinal plants is a reality among pregnant and lactating women of the "baby on board" NGO. They reported that they feel that "natural" products are not harmful for their health. The primary information sources for the majority of women about medicinal plants during pregnancy are family, neighbors and herbalists. The plants most cited (in popular name in Brazil) were: senna, chamomile, boldo, lemon balm, lemon grass. They were used mainly for: nausea, heartburn, indigestion, flatulence, intestinal and abdominal pain, anxiety, intestinal constipation and low milk production. The pregnant and lactating women lacked knowledge about the health risks of the use of medicinal plants and herbal medicines in pregnancy and lactation. They also reported difficulties in clarifying some questions about the use of medicinal plants with their doctors. The results of the present study showed that educative actions about the rational use of medicinal plants in pregnancy and breastfeeding could be part of the operating protocols to promote the maternal and child health programs in Araraquara. Thus, our results also suggest the importance of creating institutionalized places, to the implementation of continued education programs about rational use of medicinal plants in pregnancy and lactation. These targeted programs are not only for health professionals, but also for community members, pregnant women and breastfeeding. Our results pointed out the importance of guidance of doctors and healthcare professionals on the scientific studies about medicinal plants and herbal medicines and the risk/benefit of using herbs during pregnancy. Finally, it is noted the importance of the health professionals to inform women of childbearing on risks to their health, as well as on possibilities of utilization of herbs during fertile period, giving special attention to the potential risk of self-medication.