Search results for "NHE"
showing 10 items of 1058 documents
Parental Support and Objectively Measured Physical Activity in Children: A Yearlong Cluster-Randomized Controlled Efficacy Trial
2017
ABSTRACTPurpose: We studied whether physical activity (PA) counseling for parents influenced the level of parental support of children’s PA and leisure-time PA in children of different levels of initial parental support. We hypothesized that the initial level of parental support would moderate the intervention efficacy. Method: Children (n = 44, Mage = 6.09 ± 1.17 years) and their parents (n = 61) randomly assigned to an intervention group received counseling for 6 months. Children in the control group (n = 47, Mage = 6.12 ± 1.11 years) and their parents (n = 63) did not receive any counseling. Parental support was assessed using the Family Physical Activity Environment Questionnaire, and c…
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no eviden…
2013
BACKGROUND Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS None…
Addressing the impact of SARS-CoV-2 infection in persons with congenital bleeding disorders: The Italian MECCOVID-19 study
2021
congenital bleeding disorders
Tracking of fruit, vegetables and unhealthy snacks consumption from childhood to adulthood (15 year period): does exposure to a free school fruit pro…
2019
Background The rationale for promoting increased consumption of fruit and vegetables (FV) at an early age is based on results from previous tracking-studies, indicating that dietary habits learned in childhood sustain into adulthood. Previous tracking studies have several limitations (e.g. low study sample, few repeated measurements and/or short a follow-up period). In addition, to our knowledge, no study has shown that a dietary intervention initiated in childhood affects tracking of dietary behaviour. The main objectives in this study were therefore to assess tracking of FV and unhealthy snacks in a large sample with multiple follow-up surveys over 15-years, and whether exposure to free s…
PORCN mutations in focal dermal hypoplasia: coping with lethality.
2009
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …
Spanish Adaptation and Validation of the Short Internalized Homonegativity Scale (SIHS)
2016
Internalized homophobia has been related to mental health problems and sexual risk behaviors among nonheterosexual people. This article validates the Spanish adaptation of the Short Internalized Homonegativity Scale (SIHS). For this purpose, 347 men and 183 women completed the instrument. Exploratory factorial analysis showed three factors: public identification as homosexual (PIH), sexual comfort with homosexual people (SEXC), and social comfort with homosexual people (SOCC). These factors explained 57.96% of total variance. In addition, confirmatory factorial analysis supported this structure and internal consistency (Cronbach's alpha) was.80 for the full scale. The three subscales ranged…
Cognitive and emotional empathy in patients with schizophrenia spectrum disorders: A replication and extension study.
2019
Impairments of social cognition are defined as core features in the pathology of schizophrenia. In a study by Lehmann and colleagues (2014), patients with schizophrenia have been shown to demonstrate a diminished capacity to understand others' emotions (i.e. cognitive empathy), but a preserved ability to share or feel the emotional states of others (i.e. emotional empathy). Here, we report on an independent replication study investigating cognitive and emotional empathy in 35 patients with schizophrenia spectrum disorders and a matched control group, which 1) confirms that patients demonstrate preserved emotional empathy in self-report and behavioural measurements, and 2) reveals associatio…
High density of tryptase-positive mast cells in human colorectal cancer: a poor prognostic factor related to protease-activated receptor 2 expression
2013
Tryptase(+) mast cells (MCs), abundant in the invasive front of tumours, contribute to tissue remodelling. Indeed, protease-activated receptor- 2 (PAR-2) activation by MC-tryptase is considered an oncogenic event in colorectal cancer (CRC). Recently, we have suggested NHERF1 as a potential new marker in CRC. In this study, we aimed to determine the distribution of tryptase(+) MCs and PAR-2 and to examine the relationship between PAR-2 and NHERF1, investigating their reputed usefulness as tumour markers. We studied a cohort of 115 CRC specimens including primary cancer (C) and adjacent normal mucosa (NM) by immunohistochemical double staining, analyzing the protein expression of MC-tryptase,…
Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum
2020
The EUGEI project was supported by the European Community’s Seventh Framework Program under grant agreement no. HEALTH-F2-2009-241909 (Project EU-GEI). Dr O’Donovan is supported by MRC programme grant (G08005009) and an MRC Centre grant (MR/ L010305/1). Dr Rutten was funded by a VIDI award number 91718336 from the Netherlands Scientific Organisation. Drs Guloksuz and van Os are supported by the Ophelia research project, ZonMw grant number: 636340001. Dr Arango was supported by the Spanish Ministry of Science and Innovation; Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024); CIBERSAM; Madrid Regional Government (B2017/BMD-3740, AGES-CM-2); Fundación Familia Alonso and Fundac…
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
2007
Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…