Adesão ao tratamento por cuidadores de crianças com hipotireoidismo congênito

As doenças crônicas requerem atenção e avaliações continuas e têm despertado a atenção de profissionais da área da saúde, especialmente aqueles que se dedicam à Psicologia Pediátrica, campo de aplicação que se dedica ao estudo do desenvolvimento da criança, bem como das relações entre saúde e doença e as interferências na qualidade de vida da criança e de seus familiares. Esta pesquisa teve como objetivo principal realizar um estudo descritivo, a fim de identificar variáveis que estivessem facilitando ou dificultando a adesão ao tratamento por cuidadores de crianças com Hipotireoidismo Congênito atendidas em um centro de referência no Estado do Pará. Participaram deste estudo 50 cuidadores principais, com idade entre 17 a 55 anos, com diferentes graus de parentesco com a criança. As variáveis relacionadas à adesão foram identificadas por meio de entrevistas estruturadas com os cuidadores. Características do Programa foram analisadas por meio de entrevistas realizadas com os profissionais da equipe. A análise dos relatos dos cuidadores mostrou que algumas exigências para a adesão ao tratamento não estão sendo fornecidas. Informações sobre características da doença, etiologia, diagnóstico, tratamento e prognóstico não fazem parte do repertório da maioria dos cuidadores, independente da idade, escolaridade, grau de parentesco e tempo em que a criança está no Programa de Triagem Neonatal. Diferenças significativas foram encontradas quanto ao tempo adequado para a realização do exame, o que demonstrou atraso no inicio do tratamento, As dificuldades descritas pelos profissionais quanto à adesão ao tratamento pelo cuidador foram atribuídas tanto a problemas apresentados pela própria estrutura do Programa como por falta de interesse do cuidador. O estudo traz implicações relevantes para a implantação de programas de prevenção mais efetivos e eficazes que atendam os cuidadores e promovam o adequado desenvolvimento da criança.

Sendo mãe, sendo pai: sexualidade, reprodução e afetividade entre adolescentes de grupos populares em Belém

Este estudo focaliza os eventos relacionados às trajetórias afetivo-sexuais de jovens (homens e mulheres) de camadas populares, em sua maioria, estudantes de uma escola da rede pública (estadual) de ensino. Orientada por um olhar antropológico, a pesquisa contemplou além dos 36 adolescentes (24 mulheres e 12 homens), interlocutores principais, pessoas pertencentes às suas redes de relações na família e na escola, tais como: mães, tias, irmãs, avós, madrinhas, professoras e amigos. A observação direta nos contextos de sociabilidade do grupo foi acrescida de conversas informais e da utilização do diário de campo, tendo sido realizadas entrevistas individuais aprofundadas com os 36 participantes. No interior das diferentes trajetórias aqui analisadas, são pontuados os contextos e desdobramentos da gravidez durante a adolescência, a maternidade e a paternidade, os conflitos, os impasses, os arranjos, re-arranjos e as redes de relações estabelecidas em torno dos mencionados eventos, no âmbito da família e da escola. São postas em relevo as lógicas culturais que presidem as experiências afetivo-sexuais, informadas, sobretudo, pelas diferenciações de gênero. O objetivo foi formular uma compreensão, o mais próxima possível traduzida numa interpretação textualizada dos significados culturais atribuídos aos eventos por aqueles que os vivenciam.

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-alpha 1(I) and pro-alpha 2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression of autosomal dominant OI was identified and characterized. Scanning for mutations was carried out using SSCP and DNA sequence analysis. The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S). The proband's mother had the disease signs, but without bone fractures, as did five of nine uncles and aunts of the patient. All of them carried the mutation, which was excluded in four healthy brothers of the patient's mother. This is the first description in a Brazilian family with OI showing variable expression; only one among seven carriers for the c.3235G>A mutation developed bone fractures, the most striking clinical feature of this disease. This finding has a significant implication for prenatal diagnosis in OI disease.

Robin Huws Jones (United Kingdom), President 1976- 1980

Robin Huws Jones, President of the International Association of Schools of Social Work from 1976 to 1980, lived a life of challenge and change. Born in Wales in 1909, he often remarked that learning to speak Welsh at age two was such a challenge that he didn’t bother to learn English until he was six. The death of his mother when he was three led to the first of many changes in a life that was not easy in the formative years. Robin remained in the care of his father while his sister became the ward of two aunts. With his father, a draper’sassistant, he left Wales to live in a crowded boarding house in Liverpool.

Genetic epidemiology of childhood brain tumors

A rare familial cancer syndrome involving childhood brain tumors (CBT), breast cancer, sarcomas and an array of other tumors has been described (Li and Fraumeni 1969, 1975, 1982, 1987). A survey of CBT identified through the Connnecticut Tumor Registry in 1984 revealed a high frequency of CBT, leukemia and other childhood cancer in siblings of CBT patients (Farwell and Flannery, 1984). Other syndromes such as neurofibromatosis and nevoid basal cell carcinoma syndrome have also been associated with CBT; however, no systematic family studies have been conducted to determine the extent to which cancer aggregates in family members of CBT patients. This family study was designed to determine the frequency of cancer aggregation overall or at specific sites, to determine the frequency of known or potentially hereditary syndromes in families of CBT patients, and to determine a genetic model to characterize familial cancer syndromes and to identify specific kindreds to which such a model(s) might apply. This study includes 244 confirmed CBT patients referred to the University of Texas M. D. Anderson Cancer Center between the years 1944 and 1983, diagnosed under the age of 15 years and resident in the U.S. or Canada. Family histories were obtained on the proband's first (parents, siblings and offspring) and second degree (proband's aunts, uncles and grandparents) relatives following sequential sampling scheme rules. To determine if cancer aggregates in families, we compared the cancer experience in the population to that expected in the general population using Connecticut Tumor Registry calendar year, age, race and sex-specific rates. The standardized incidence ratio (SIR) for cancer overall was 0.91 (41 observed (O) and 44.94 expected (E); 95% Confidence Interval (CI) = 0.65-1.24). We observed a significant excess of colon cancer among the proband's first degree relatives (O/E = 5/1.64; 95% CI = 1.01-7.65), in particular those under age 45 year. Segregation analysis showed evidence for multifactorial inheritance in the small percentage (N = 5) of the families. ^

Letter from Samuel Willard, Brunswick, Maine, to William Willard and Katherine Willard, Petersham, Massachusetts, October 17, 1804

Willard describes his tutoring job at Bowdoin College, explains his contract and salary, terms and conditions, and describes President Joseph McKeen, as well as the town of Brunswick. He mentions that he saw his Aunt Chadwick, and that she discussed the death of her brother. He also describes his aunt’s house, and mentions the death of another close relation.

Pollyanna /

Advertisements on p. [1-6], [1]-10 at end.

Fairy and folk tales of the Irish peasantry /

Variant issue: series title on half title; errata slip inserted at p. [ix].

Rebecca of Sunnybrook Farm /

Mode of access: Internet.

On becoming pope in late antiquity

To an extent unusual among holders of papal office in late antiquity, we know something of the family of Gregory the Great (590-604). His father, Gordianus, was a wealthy Roman who had married a lady named Silvia, who herself had a sister named Pateria, while he had another three aunts, Aemiliana, Gordiana, and Tarsilla, the sisters of his father.(1) He also seems to have had one, and possibly a second brother.(2) We know from his writings that his three aunts on his father's side adopted a religious life in common, but they attained very different levels, for Gregory reports that, whereas Gordiana disgraced herself by marrying a farmer on her estates, Tarsilla reached the highest level of holiness. He describes his great-great-grandfather Felix, a bishop of the Roman church, appearing to her in a vision in which he showed her a mansion of great brightness and told her to come, for he would receive her there; soon afterwards, she died of fever.(3) While such details may appear sparse, they provide a basis on which we can make some general statements on the kinds of people who became pope in the period from the late fifth to the early seventh centuries; a table of these popes is appended to this paper. We shall suggest that there was a set of criteria which were met by new popes time and time again, and that these remained surprisingly constant across the period.

A phenomenological study of Irish and Portuguese women’s experiences of receiving family support when studying STEM subjects at technical institutes

Comunicação apresentada na 44th SEFI Conference, 12-­15 September 2016, Tampere, Finland