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

Caries and its association with infant feeding and oral health-related behaviours in 3-4-year-old Brazilian children

Objectives: To investigate the relationships between socio-demographic factors, infant feeding habits, oral hygiene and the prevalence and patterns of caries in Brazilian 3-4-year-olds. Methods: Systematic random sampling was used to select children enrolled in municipal nurseries in Araraquara, Brazil, in 1998. Clinical examinations were carried out by one examiner using dmft and dmfs indices and WHO criteria. Questionnaires for information related to the socio-demographic background, oral hygiene and dietary history of the children were completed by their mothers. Results: Caries was seen in 46% of the children; 17% of them had the more extensive pattern involving molars and incisors. Social class, mother's education, and age at which breast-feeding terminated showed statistically significant associations with caries. Feeding bottles with added sugars were still being given to 80% of the children. When the significant variables were taken into account only age at which breast-feeding terminated showed a significant relationship to the pattern of disease. Children who were never breast-fed or were breast-fed beyond the age of 24 months had a higher prevalence of the more extensive pattern of caries. Conclusions: The association between the length of time a mother breast-feeds and extensive caries should be a consideration in any local infant feeding policies or health promotion strategies. The duration for appropriate breast- or bottle-feeding should be emphasised.

The Brazilian version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ)

We report the cross-cultural adaptation and validation into Brazilian-Portuguese of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children regardless the underlying disease. The Brazilian CHAQ was revalidated, while the CHQ has been derived from the Portuguese version. A total of 471 subjects were enrolled: 157 patients with JIA (27% systemic onset, 38% polyarticular onset, 9% extended oligoarticular subtype, and 26% persistent oligoarticular subtype) and 314 healthy children. The CHAQ discriminated clinically healthy subjects from JIA patients, with the systemic, polyarticular and extended oligoarticular subtypes having a higher degree of disability, pain, and lower overall well-being scores when compared to their healthy peers. Also the CHQ discriminated clinically healthy subjects from JIA patients, with the systemic onset, polyarticular onset and extended oligoarticular subtypes having a lower physical and psychosocial well-being score when compared to their healthy peers. In conclusion the Brazilian versions of the CHAQ-CHQ are reliable and valid tools for the combined physical and psychosocial assessment of children with JIA. © Copyright Clinical and Experimental Rheumatology 2001.

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.

Genotoxicity of cigarette smoking in maternal and newborn lymphocytes

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

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.

Social disparity and oral health

There is a clear reported association between social disparity and oral health, for example, between dental caries and malnutrition in children. This fact is detected in several studies, and also found amongst the Brazilian population. However, several efforts have been made to improve the quality of life of the population and to achieve the 2015 Millennium Development Goals. Oral health is a branch to be improved among these goals. The Brazilian experience has been drawing the attention of authorities, insofar as there have been direct improvements in oral health through state oral health programs, and also indirect results by improving the quality of life of the population. Included within the Brazilian oral health programs are the Family Health Program and Smiling Brazil Program. The former is a global healthcare program which involves primary oral healthcare, while the latter is a specialized oral care program. Among the social programs that would indirectly improve oral health are Family Stipend and the Edmond and Lily Safra International Institute of Neuroscience of Natal (ELS-IINN). In conclusion, although oral health problems are related to socioeconomic factors, the implementation of primary oral health programs and programs to improve the population's quality of life may directly or indirectly improve the oral health scenario. This fact is being observed in Brazil, where the oral health policies have changed, and social programs have been implemented.

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.

TERRITORIAL DISPUTES, LABOUR RELATIONS and ENVIRONMENTAL HEALTH IN AGROHIDRONEGOCIO sugarcane IN THE PONTAL PARANAPANEMA (SP)

This research aims to analyze the conflict over land in Postal do Paranapanema (state of São Paulo, Brazil), considering the competition for water resources and the degradation of environmental health in the area called the agrohidronegocio sugarcane. The survey results indicate that the expansion of sugarcane cultivation in this region is causing the worsening health of workers. Moreover, the research also seeks to identify alternative models to the hegemonic project of regional development based on matrix agrohidroenergetica. For this, the research has as interlocutors various types of social movements such as the Landless Workers Movement and the Movement of Dam Affected, and union leaders.

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.

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.

Sentimentos e percepções de puérperas com relação à assistência prestada pelo serviço materno-infantil de um hospital universitário

OBJETIVOS: avaliar percepções e sentimentos de puérperas adultas e adolescentes, relacionados ao filho e a assistência materno-infantil, em hospital universitário de nível terciário. MÉTODOS: estudo transversal, envolvendo 180 puérperas, no Alojamento Conjunto (AC) e no Berçário Interno (BI) do Hospital das Clínicas da Faculdade de Medicina de Botucatu , entrevistadas no segundo e terceiro dia pós-parto e distribuídas em três grupos: adultas primíparas, adultas multíparas e adolescentes. Para comparação entre grupos e locais de internação utilizou-se o chi2 ou teste de Fisher. RESULTADOS: ultrasom obstétrico e cardiotocografia tiveram impacto positivo na emoção materna. Houve pouca diferença entre os grupos quanto aos sentimentos antes e após o parto, sendo felicidade, amor, responsabilidade, ansiedade e medo os mais freqüentes. A culpa predominou nas adolescentes do BI. As percepções relacionadas ao filho, a avaliação da assistência e equipe, não diferiram entre adultas e adolescentes. Nas duas enfermarias o relacionamento entre mães e cuidadores foi bom, as mães mostraram-se satisfeitas com a equipe e a assistência, mas o aleitamento materno foi pouco valorizado e poucas mães conheciam o médico. CONCLUSÕES: está ocorrendo um processo de humanização na assistência materno-infantil deste hospital universitário, mas alguns aspectos precisam ser melhorados, especialmente a valorização do aleitamento materno e a individualização no contato médico-paciente.

Cryptosporidium infection in Brazil: implications for veterinary medicine and public health

O objetivo deste trabalho foi relatar, por meio de revisão de literatura, os resultados de pesquisas sobre a criptosporidiose no Brasil, com ênfase em sua ocorrência em animais e suas implicações em medicina veterinária e em saúde pública. Um número crescente de trabalhos sobre a infecção por Cryptosporidium spp. no Brasil está disponível na literatura nacional e internacional. Nestes trabalhos, são abordados principalmente aspectos relacionados à ocorrência de Cryptosporidium spp. em alimentos, amostras ambientais, no homem e em diversas espécies animais, particularmente em aves, bovinos, cães e gatos. Por meio de técnicas de biologia molecular, a maioria das espécies e alguns genótipos identificados em outros países foram descritos no Brasil. em mamíferos, houve identificação de C. bovis, C. canis, C. felis, C. meleagridis, C. parvum e o genótipo cervídeo; em diversas espécies de aves, foi descrita infecção por C. baileyi, C. galli, C. meleagridis, C. parvum e pelos genótipos I, II e III de aves. Várias espécies foram descritas no homem, como C. parvum e C. hominis, além de algumas espécies adaptadas a hospedeiros animais, como C. canis, C. felis e C. meleagridis.