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.

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.

Effects on mother and fetus of epidural and combined spinal-epidural techniques for labor analgesia

OBJETIVO: A peridural (AP) e a técnica de duplo bloqueio (DB) são utilizadas em analgesia para o trabalho de parto. Este estudo comparou os efeitos na mãe e no feto de ambas as técnicas em analgesia e anestesia para o parto. MÉTODOS: Quarenta parturientes ASA I e II receberam por via peridural 15 ml de ropivacaína a 0,125% (grupo AP) e 5 µg de sufentanil com 2,5 mg bupivacaína por via subaracnóidea (grupo DB). Foram avaliados: intensidade de dor, altura do bloqueio sensitivo, tempo de latência, bloqueio motor, duração da analgesia de parto, tempo para a resolução do parto, hipotensão materna e presença de prurido. Os recém-nascidos foram avaliados pelo índice de Apgar e escore da capacidade adaptativa e neurológica (ECAN), método de Amiel-Tison. RESULTADOS: Não houve diferenças significativas entre os grupos na intensidade da dor, no tempo de latência, no nível do bloqueio sensitivo e no índice de Apgar. O bloqueio motor, a duração da analgesia e o tempo para resolução do parto foram maiores no grupo DB, do qual sete parturientes apresentaram prurido leve. ECAN foi maior no grupo AP após meia hora, duas horas e 24 horas. Noventa e cinco por cento dos recém-nascidos do grupo AP e 60% do grupo DB foram considerados neurologicamente vigorosos ao exame de 24 horas. CONCLUSÃO: As duas técnicas mostraram-se eficazes para analgesia do trabalho de parto. As parturientes do grupo DB apresentaram prurido e trabalho de parto mais prolongado. Recém-nascidos de mães que receberam analgesia de parto via peridural apresentaram melhor ECAN.

Genotoxicity of cigarette smoking in maternal and newborn lymphocytes

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

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.

DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER

An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11 % of her lymphocytes the duplicated X was active.

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

DNA Damage and Its Cellular Response in Mother and Fetus Exposed to Hyperglycemic Environment

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

Documentação oficial e o mito da educadora nata na educação infantil

O artigo descreve a trajetória, bem como apresenta as conclusões de pesquisa que resultou em dissertação de mestrado em educação, defendida em 1997, cujo objeto de estudo é o profissional que atua na educação infantil em nosso país. As análises levaram à conclusão de que, ao longo da história, tem-se reforçado a imagem do profissional dessa área como sendo a da mulher naturalmente educadora, passiva, paciente, amorosa, que sabe agir com bom senso, é guiada pelo coração, em detrimento da formação profissional. A não-valorização salarial, a inferioridade perante os demais docentes, a vinculação do seu trabalho com o doméstico e a deficiência articulam-se à difusão da figura mitificada, que não consegue desvincular-se das significações que interligam a mãe e a criança.

Sintomas depressivos e ansiosos em mães de recém-nascidos com e sem malformações

OBJETIVO: comparar as condições emocionais de mães cujos filhos nascem com malformações visíveis (Grupo M) com as das mães de crianças eutróficas (Grupo E) logo após o nascimento. MÉTODO: foram avaliados os sintomas de ansiedade e depressão de 22 mães de cada grupo por meio do Inventário de Depressão de Beck (BDI) e do Inventário de Ansiedade Traço-Estado (IDATE). Foram excluídas as mães portadoras de deficiência sensorial incapacitante, HIV, distúrbios psiquiátricos e síndromes genéticas. Os dados foram complementados com consultas a prontuários médicos da criança e da mãe. Para análise comparativa entre as medianas dos grupos foi utilizado o teste não-paramétrico U de Mann-Whitney; para amostras independentes e para os escores indicativos de sintomas clínicos, o teste exato de Fisher e o teste do χ2. RESULTADOS: houve diferenças significativas nas medianas dos escores das três subescalas (ansiedade-traço, ansiedade-estado e disforia/depressão) entre os dois grupos de mães. Houve uma porcentagem significativamente maior de mães do Grupo M com escores indicativos de sinais clínicos para depressão ou ansiedade no pós-parto imediato e, para ambos os quadros, quando comparadas com mães do Grupo E. Os resultados podem ser decorrentes de traços de personalidade materna, visto que os índices de ansiedade-traço eram significativamente maiores nas mães de crianças malformadas, mas especialmente pelo estado da criança, seu encaminhamento para a UTI e sua condição de vida futura. CONCLUSÕES: a porcentagem de mães de recém-nascidos com malformações visíveis que apresentou escores indicativos de sinais clínicos para ansiedade, depressão e ambos sugerem a necessidade de suporte, individual ou em grupo.

Freqüência e variáveis associadas ao aleitamento materno em crianças com até 12 meses de idade no município de Araçatuba, São Paulo, Brazil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Hipomineralização molar-incisivo: prevalência, severidade e etiologia em escolares de Araraquara

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Avaliação de estresse e enfrentamento das mães de crianças com cardiopatias congênitas

Pós-graduação em Bases Gerais da Cirurgia - FMB

Perfil terapêutico assistencial da sífilis congênita no Distrito Federal no ano de 2008

Pós-graduação em Ginecologia, Obstetrícia e Mastologia - FMB

A desafetação no olhar da psicanálise: a função materna e a relação mãe-bebe

Pós-graduação em Psicologia - FCLAS