Search results for "Family"
showing 10 items of 3539 documents
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Family violence and mental health in a sample of Finnish health care professionals : the mediating role of perceived sleep quality
2019
Background Family violence (FV) is a prevalent health issue around the world and health care services have an important role in both recognizing and treating the consequences of violence. However, FV experiences among health care professionals themselves have not been investigated much. We also lack specific knowledge on the associations between FV and mental health. Aim The purpose of the study was to investigate the prevalence and effects of FV in a sample of Finnish health care professionals. In addition to analysing direct connections between different types of FV and mental health, the mediating effect of sleep quality was also taken into account. Methods The study followed a cross‐sec…
A scale on beliefs about children's adjustment in same-sex families: reliability and validity.
2012
In this study, we developed a new instrument named Scale Beliefs about Children's Adjustment on Same-Sex Families (SBCASSF). The scale was developed to assess of the adults' beliefs about negative impacts on children who are raised by same-sex parents. An initial pool of 95 items was generated by the authors based on a review of the literature on homophobia and feedback from several focus groups. Research findings, based on a sample of 212 university students (mean age 22 years, SD = 8.28), supported the reliability and validity of the scale. The final versions of the SBCASSF included items reflecting the following two factors: individual opposition (α = .87) and normative opposition (α = .…
Does Theorizing on Reciprocal Altruism Apply to the Relationships of Individuals with a Spinal Cord Injury?
2012
From the perspective of reciprocal altruism, we examined the role of reciprocity in the close relationships of people inflicted with a spinal cord injury (SCI) ( n = 70). We focused on the help receiver rather than on the help giver. Participants perceived more reciprocity in relationships with friends than in relationships with the partner and with family members. In these last relationships, perceptions of indebtedness were more prevalent than perceptions of deprivation. However, most negative feelings were evoked by a lack of reciprocity in partner relationships, followed by family relationships, and next by friendships. Moreover, depression was especially associated with a lack of perc…
Communication Deviances and Clarity Among the Mothers of Normally Achieving and Learning-Disabled Boys.
1994
The main purpose of the study was to reexamine the association between maternal communication deviances and learning disabilities in children. In this study, we adapted and extended the procedure used by Ditton, Green, and Singer (1987). A two-part experimental task was used: one in which the child could not request any clarification of mother's instructions, and another in which the mother and child could communicate. Both communication deviances and the clarity of mothers' communication were analyzed. The subjects were 60 mother-child pairs in which half of the children had learning disabilities and the other half were normally achieving children matched for age and parents' SES. The dyad…
Exposure therapy changes dysfunctional evaluations of somatic symptoms in patients with hypochondriasis (health anxiety). A randomized controlled tri…
2015
Dysfunctional evaluations of somatic symptoms are considered a central factor in maintaining hypochondriasis. The aim of the current study was to investigate whether exposure therapy (ET) without cognitive restructuring is sufficient to change dysfunctional evaluations of somatic symptoms. The current study was based on a randomized controlled trial and compared patients with hypochondriasis (N=73) receiving ET or cognitive therapy (CT) to a wait list (WL) control group. In both the ET and CT groups, dysfunctional symptom evaluations changed significantly compared with the WL group. No differences between the ET and CT groups emerged. The relationship between the treatment condition (active…
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation
2007
We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced pe…
Guideline-based survey of outpatient COPD management by pulmonary specialists in Germany
2012
Thomas Glaab1,2, Claus Vogelmeier3, Andreas Hellmann4, Roland Buhl11Department of Respiratory Diseases III, Medical Center of the Johannes Gutenberg-University, Mainz, 2Medical Affairs Germany, Respiratory Medicine, Boehringer Ingelheim Pharma GmbH and Co, KG, Ingelheim, 3Department of Respiratory Diseases, University Hospitals of Giessen and Marburg, Marburg, 4Federal Association of Pneumologists, Augsburg, GermanyBackground: Little is known about the role of guidelines for the practical management of chronic obstructive pulmonary disease (COPD) by office-based pulmonary specialists. The aim of this study was to assess their outpatient management in relation to current guideline recommenda…
Respite care as a community care service: Factors associated with the effects on family carers of adults with intellectual disability in Taiwan
2008
This study examines the effects and associated factors of respite care, which was legislated as a community service for adults with an intellectual disability (ID) in Taiwan in 1997.A total of 116 family carers who live with an adult with ID and have utilised the respite care program were surveyed using standardised measures.The results suggest that the most notable effects of respite care include improvement in the carers' social support and life satisfaction, and relief of psychological stress and overall burden of care. The factors associated with these effects include the way the participants have used the respite care and the users' individual characteristics.How families used the resp…
Sympathetic Nervous System Synchrony in Couple Therapy
2016
The aim of this study was to test whether there is statistically significant sympathetic nervous system (SNS) synchrony between participants in couple therapy. To our knowledge, this is the first study to measure psychophysiological synchrony during therapy in a multiactor setting. The study focuses on electrodermal activity (EDA) in the second couple therapy session from 10 different cases (20 clients, 10 therapists working in pairs). The EDA concordance index was used as a measure of SNS synchrony between dyads, and synchrony was found in 85% of all the dyads. Surprisingly, co-therapists exhibited the highest levels of synchrony, whereas couples exhibited the lowest synchrony. The client-…