Efficacité a court et moyen termes des traitements d'urgence-crise pour couples et families: résultats et perspectives [Short and medium-term effectiveness of the emergency-crisis treatments for couples and families: results and perspectives].

From 2007 to 2010, the emergency-crisis unit of the Couple and Family Consultation Unit -UCCF (West Psychiatric Service, Prangins Psychiatric Hospital, Psychiatric Department of CHUV) has carried out a research about the relevance and usefulness of emergency-crisis, systemic-oriented treatments, for deeply distressed couples and families. Besides epidemiologic data, we present results demonstrating the efficiency of those treatments, both at short-term and at a one year's range. The global impact of such treatments in terms of public health, but also economical issues, make us believe that they should be fully included in the new trend of psychiatric ambulatory care, into the social net.

Heritability of renal function in hypertensive families of African descent in the Seychelles (Indian Ocean).

BACKGROUND: We estimated the heritability of three measures of glomerular filtration rate (GFR) in hypertensive families of African descent in the Seychelles (Indian Ocean). METHODS: Families with at least two hypertensive siblings and an average of two normotensive siblings were identified through a national hypertension register. Using the ASSOC program in SAGE (Statistical Analysis in Genetic Epidemiology), the age- and gender-adjusted narrow sense heritability of GFR was estimated by maximum likelihood assuming multivariate normality after power transformation. ASSOC can calculate the additive polygenic component of the variance of a trait from pedigree data in the presence of other familial correlations. The effects of body mass index (BMI), blood pressure, natriuresis, along with sodium to potassium ratio in urine and diabetes, were also tested as covariates. RESULTS: Inulin clearance, 24-hour creatinine clearance, and GFR based on the Cockcroft-Gault formula were available for 348 persons from 66 pedigrees. The age- and gender-adjusted correlations (+/- SE) were 0.51 (+/- 0.04) between inulin clearance and creatinine clearance, 0.53 (+/- 0.04) between inulin clearance and Cockcroft-Gault formula and 0.66 (+/- 0.03) between creatinine clearance and Cockcroft-Gault formula. The age- and gender-adjusted heritabilities (+/- SE) of GFR were 0.41 (+/- 0.10) for inulin clearance, 0.52 (+/- 0.13) for creatinine clearance, and 0.82 (+/- 0.09) for Cockcroft-Gault formula. Adjustment for BMI slightly lowered the correlations and heritabilities for all measurements whereas adjustment for blood pressure had virtually no effect. CONCLUSION: The significant heritability estimates of GFR in our sample of families of African descent confirm the familial aggregation of this trait and justify further analyses aimed at discovering genetic determinants of GFR.

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

BACKGROUND: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. METHODS: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequencing of the TGFBI gene. Clinical, histological and immunohistochemical characteristics of corneal opacification were reported and compared with the coding region changes in the TGFBI gene. RESULTS: A novel mutation Leu509Pro was detected in one family with a geographic pattern-like clinical phenotype. Histopathologically we found amyloid together with non-amyloid deposits and immunohistochemical staining of Keratoepithelin (KE) KE2 and KE15 antibodies. In two families and one sporadic case the novel mutation Gly623Arg with a late-onset, map-like corneal dystrophy was identified. Here amyloid and immunohistochemical staining of only KE2 antibodies occurred. Further, five already known mutations are reported: Arg124Cys Arg555Trp Arg124His His626Arg, Ala546Asp in 13 families and five sporadic cases of German origin. The underlying gene defect within the TBFBI gene was not identified in any of the four probands with Thiel-Behnke corneal dystrophy. CONCLUSIONS: The two novel mutations within the TGFBI gene add another two phenotypes with atypical immunohistochemical and histopathological features to those so far reported.

Family-based affirmative action? Subversion and resilience strategies of gay father families

The present doctoral dissertation is aimed at analyzing how and with what consequences gay father families and their children’s schools negotiate possible differences in the construction of family and gender at home and in the families’ social milieus. This objective fits in with the broader goal of researching how family-school interactons are influenced by the social context such as hegemonic masculinity (Connell, 2002). The thesis is based on qualitative fieldwork carried out with 18 nonheterosexual parent families in Spain, comprising 30 interviews with 44 people. The principal participant group were 14 de novo (adoptive and surrogacy) gay father families with resident preadolescent children. The findings revealed that all the de novo families assumed open communication strategies at school with inclusive consequences: apart from incidental questions and reactions of surprise, the children did not suffer homophobic bullying. The analisis showed that the necessary condition for inclusion was not the open communication but rather illocutionary orientation (Habermas, 1984; Soler & Flecha, 2010), understood as the parents’ sensitivity to the attitudes of their children and schools. The schools received the families in an inclusive manner, which, however, was only receptive and not proactive, therefore some of the families (reconstituted ones), coerced by the social context, got excluded. Gender relations at home were predominantly androgynous, and outside home predominantly traditional, yet the children negotiated this difference with inclusive consequences. They participated in hegemonic collective practices, thus confirming the thesis on the similarity between homo- and heterosexual-parent families (Golombok, 2006). Consistently, also the families’ identity politics was “assimilationist” and non-queer. Admittedly, the analisis showed that such a politics was increased by social expectations. Still, the findings suggest that educational and other family policies should draw on broad agendas of gender and family diversity rather than on the politics of difference and the unique status of LGB families.

Working for Children and Families: Exploring Good Practice

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Working for children and families : exploring good practice

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Fathers and Families: research and reflection on key questions

This is the third report to be published by the Department of Health and Children under the Springboard Initiative. It is written to promote understanding and appreciation of the role of a fathers in family life. Download the Report here

A Guide to What Works in Family Support Services for Vulnerable Families

This publication is part of research undertaken for the Springboard Family Support Initiative. Springboard is one of the most important initiatives of any Government in recent times to support vulnerable families. It aims to support families which are experiencing difficulties in providing adequate care and protection for their children through community based centres  which work in partnership not only with other local service providers but with the families themselves. Download the Report here

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms.

Growing Up in Ireland: National Longitudinal Study of Children. The Infants And Their Families - Infant CohortOther Relevant Documents

Growing Up in Ireland: National Longitudinal Study of Children. The Infants And Their Families – Infant Cohort Click here to download PDF 9.46MB   Click here to download the document summary 2.84MB