Acerca da família nuclear

Este trabalho é motivado por uma questão básica, presente, atual: A família nuclear estaria sofrendo uma transformação em sua organização. Especificamente a dissolubilidade dos laços matrimoniais estaria contribuindo para uma diferente ordenação das relações de parentesco. O modelo familiar proposto, aqui no Brasil, pela Igreja e pela higiene, como procuramos demonstrar no texto, está, ao menos no que diz respeito à classe média da população, sendo descaracterizado por um tipo de relacionamento afetivo diverso do casamento tradicional "até que a morte os separe". Esta pergunta se amplia numa questão maior: ou a organização familiar transforma-se através da história, através das diferentes formações sociais, ou a família nuclear, objeto da nossa pesquisa, é um sempre-existente; ou seja, desde que o homem se aculturou a forma de organização familiar se restringiu, com variações que não passariam de meras exceções, meros desvios da estrutura primordial (a família restrita), como querem alguns autores? A nossa resposta a esta questão é claramente a favor do ponto de vista que afirma a transformação da organização familiar através dos tempos, portanto através da história, e o que é mais importante, através de diferentes formações sociais. Assim sendo, fomos levados, não só pela nossa prática, mas principalmente pela íntima ligação que a pesquisa histórica revela entre o surgimento da psicanálise e a sedimentação do modelo da família restrita, pelo novo poder de "gerir a vida", ou seja, um poder que, ao invés de tirar a vida daqueles que não o servem a contento, se interessa em extrair da vida tudo que de melhor ela pode dar, um poder a quem interessa uma qualidade cada vez maior de corpos, a fim de explorar a maior quantidade possível de produção. A família por si só é um problema. Trata-se de uma instituição que obriga a todas as ciências humanas, inclusive a medicina, a se depararem com ela em suas respectivas práticas, seja esta prática empírica ou teórica. Daí, por tratar-se de um trabalho teórico, tornou-se necessário percorrer vários saberes, os mais notáveis no nosso entender, para poder atingir os nossos objetivos.

Cicero, Tullia, and Marcus: Gender-Specific Concerns for Family Tradition?

A fair number of Cicero's letters reveal his concern for his daughter Tullia and his son Marcus. Recent scholarship has read these letters as evidence for a ‘natural’ emotional attachment of a father to his children, in reaction to Philippe Ariès's opposite claim. This chapter considers whether Cicero's letters can be analysed only as expressions of paternal affection. The fact that the pater familias Cicero occupies a political position simultaneously in his nuclear family, his domus, and the Senate, results in a concern for his prestige within the social field of the aristocracy. And this concern is necessarily conferred upon his support of the education and the social and political career of his children. The chapter traces the gender-specific differences between Cicero's treatment of Tullia and Marcus, shows the social construction of parental affection, and contributes to a further understanding of the different functions of daughters and sons in the social force field of family memory.

Influence of the host related factors in the development of the hepatosplenic form of schistosomiasis mansoni

The frequency of hepatosplenomegaly in endemic areas is not proportional to the fecal ova count. This may be explained by epidemiological genetic. The occurrence of two or more cases of schistosomal hepatosplenomegaly in nuclear family is much higher than expected. The concentration is higher among siblings than it is among mothers and children of further and children. It is not significant between father and mother. If the mother, instead of the father has hepatosplenic schistosomiasis the relative risk for the child to acquire hepatosplenomegaly is at least five times (the maternal affect). The inbreeding is highler in the hepatosplenic than in the hepatointestinal patients. In some areas in Brazil the hepatosplenic form of the schistosomiasis mansoni occurs with much higher frequency in whites than in blacks. After treatment, reversion of hepatosplenic schistosomiasis occurs more frequently in non-whithers. It seems that the resistance of blacks to the hepatosplenic form of schistosomiasis may be related to the glyoxalase system , perhaps associated to another genetic marker. The hepatosplenic schistosomiasis is less frequent in longilineal individuals. In some areas the hepatosplenic form of schistosomiasis is more frequent in A blood group of ABO sistem. The family heredograms do not suggest a single mendelian inheritance, but probably a multifactorial and possibility poligenic one.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone responses. Although many cases of complete CSNB (cCSNB) are caused by mutations in NYX and GRM6, in approximately 60% of the patients the gene defect remains unknown. Animal models of human diseases are a good source for candidate genes, and we noted that a cCSNB phenotype present in homozygous Appaloosa horses is associated with downregulation of TRPM1. TRPM1, belonging to the family of transient receptor potential channels, is expressed in ON bipolar cells and therefore qualifies as an excellent candidate. Indeed, mutation analysis of 38 patients with CSNB identified ten unrelated cCSNB patients with 14 different mutations in this gene. The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells.

Proyecto APEGO sobre evaluación y promoción de competencias parentales en el sistema sanitario público andaluz

Consta de dos partes.

Riesgo de infección en pacientes de diálisis peritoneal: factores potencialmente relacionados

Comunicaciones Posters

Suuresta suvusta pieneen perheeseen : itäsuomalainen perhe 1700-luvulla

Summary: From joint family to nuclear family

Ethnic differences in proximal and distal tubular sodium reabsorption are heritable in black and white populations.

BACKGROUND: Segmental handling of sodium along the proximal and distal nephron might be heritable and different between black and white participants. METHODS: We randomly recruited 95 nuclear families of black South African ancestry and 103 nuclear families of white Belgian ancestry. We measured the (FENa) and estimated the fractional renal sodium reabsorption in the proximal (RNaprox) and distal (RNadist) tubules from the clearances of endogenous lithium and creatinine. In multivariable analyses, we studied the relation of RNaprox and RNadist with FENa and estimated the heritability (h) of RNaprox and RNadist. RESULTS: Independent of urinary sodium excretion, South Africans (n = 240) had higher RNaprox (unadjusted median, 93.9% vs. 81.0%; P < 0.001) than Belgians (n = 737), but lower RNadist (91.2% vs. 95.1%; P < 0.001). The slope of RNaprox on FENa was steeper in Belgians than in South Africans (-5.40 +/- 0.58 vs. -0.78 +/- 0.58 units; P < 0.001), whereas the opposite was true for the slope of RNadist on FENa (-3.84 +/- 0.19 vs. -13.71 +/- 1.30 units; P < 0.001). h of RNaprox and RNadist was high and significant (P < 0.001) in both countries. h was higher in South Africans than in Belgians for RNaprox (0.82 vs. 0.56; P < 0.001), but was similar for RNadist (0.68 vs. 0.50; P = 0.17). Of the filtered sodium load, black participants reabsorb more than white participants in the proximal nephron and less postproximally. CONCLUSION: Segmental sodium reabsorption along the nephron is highly heritable, but the capacity for regulation in the proximal and postproximal tubules differs between whites and blacks.

Para-arterial sparing phenotype in Leber congenital amaurosis associated with homozygous p.R108X SPATA-7 mutation

Purpose: To describe the genotype/phenotype correlation associated with homozygous p.R108X mutation in the SPATA7 gene. Methods: A consanguineous nuclear family of Ethiopian origin was ascertained for genotypic and phenotypic characterization, including fundus photography, fundus autofluorescence (FAF), and full-field ERG. Molecular diagnosis was performed using a microarray. Results: Two of the 5 family members were affected with LCA. A homozygous c.322C>T (p.R108X) mutation in exon 5 of SPATA-7 was identified in both of them. The patients were 4 and 11 years old, respectively. Fundus examination revealed an unremarkable macular area, but optic nerve pallor, attenuated vascular calibre and deep retinal nummular deposits with para-arterial sparing predominant in the midperiphery. FAF showed multiples areas of hyperautofluorescence, corresponding to the deep retinal deposits. ERG was not recordable in the young patient, and showed severe rods/cones dysfunction in the older one. Conclusions: The literature describing genotype/phenotype correlation of SPATA-7 mutations in Leber congenital amaurosis (LCA) is still limited. We report the occurrence of para-arterial sparing in two sibs with SPATA7-linked LCA which may represent a clinical marker of this condition.

Limited telomere shortening in hematopoietic stem cells after transplantation.

The number of cell divisions in hematopoietic stem cells (HSCs) following transplantation of bone marrow or mobilized peripheral blood into myelo-ablated recipients is unknown. This number is expected to depend primarily on the number of transplanted stem cells, assuming that stem cells do not differ in engraftment potential and other functional properties. In a previous study, we found that the telomere length in circulating granulocytes in normal individuals shows a biphasic decline with age, most likely reflecting age-related changes in the turnover of HSCs. In order to study HSCs' proliferation kinetics following stem cells transplantation, we analyzed the telomere length in donor-derived nucleated blood cells in four HLA-matched bone marrow transplant recipients relative to comparable cells from the sibling donors. In each case, the telomeres in granulocytes were shorter in the recipient than in the donor. This difference was established in the first year post transplantation and did not change after that. The telomere length in naïve and memory T cells showed marked differences after transplantation, complicating the interpretation of telomere length data using unseparated nucleated blood cells. Interestingly, the telomere length in naïve T cells that were first observed six months post transplantation was very similar in donor and recipient pairs. Our observations are compatible with a limited number of additional cell divisions in stem cell populations after bone marrow transplantations and support the idea that different populations of stem cells contribute to short-term myeloid and long-term lympho myeloid hematopoiesis.