Search results for "NHE"
showing 10 items of 1058 documents
New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis
1994
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.
The Role of Parental Support and the Students’ Opinions in Active Finnish Physical Education Homework
2022
Prior research indicates that adolescent boys are often more active than girls, implying a need for special attention to increase the physical activity levels of adolescent girls. Adolescents are at an age where they are especially susceptible to environmental and social influences but still have a limited amount of autonomy over their own behaviors. The effective physical activity programs implemented at this age may benefit health into adulthood. The fact that adolescents’ physical activity is influenced by many factors indicates that to achieve any behavioral change, interventions must target several levels across the socio-ecological model. During childhood, the family is the prim…
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain.
2014
Genome wide association studies (GWAS) has allowed the discovery of some interesting risk variants for schizophrenia (SCZ). However, this high-throughput approach presents some limitations, being the most important the necessity of highly restrictive statistical corrections as well as the loss of statistical power inherent to the use of a Single Nucleotide Polymorphism (SNP) analysis approach. These problems can be partially solved through the use of a polygenic approach. We performed a genotyping study in SCZ using 86 previously associated SNPs identified by GWAS of SCZ, bipolar disorder (BPD) and autistic spectrum disorder (ASD) patients. The sample consisted of 3063 independent cases wit…
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
2018
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…
Associations of parental physical activity trajectories with offspring's physical activity patterns from childhood to middle adulthood : The Young Fi…
2022
We investigated the association of parental physical activity (PA) trajectories with offspring's youth and adult PA. Self-reported PA data were extracted from the Young Finns Study with three follow-ups for parents between 1980 and 1986 and nine follow-ups for their offspring in youth between 1980 and 2011 (aged 9-39 years, n = 2402) and in adulthood in 2018. Accelerometer-derived PA was quantified in 2018-2020 (aged 43-58 years, n = 1134). Data were analyzed using mixture models and conducted in 2022. We identified three trajectories for fathers and mothers (high-stable activity, 20.2%/16.6%; moderate-stable activity, 50.5%/49.6%; and low-stable activity, 29.4%/33.7%) and four for youth ma…
Relationship between mothers' enjoyment and sedentary behavior and physical activity of mother-child dyads using a movement-to-music video program : …
2020
Background: Parental support and participation in physical activity (PA) with children and parents' acting as a role model for less sedentary behaviors (SB) are critical factors for children's healthier lifestyle. The purpose of the study was to assess the relationship between mothers' enjoyment and participants' sedentary behavior (SB) and physical activity (PA) as a secondary analysis of a randomized controlled trial (RCT) using data from Moving Sound RCT in the Pirkanmaa area of Finland. Methods: The participants were 108 mother-child dyads (child age 5-7 years) who completed the eight-week exercise intervention using a movement-to-music video program in their homes. Mothers' enjoyment w…
Validity of the Finnish version of the Parental Burnout Assessment (PBA)
2020
The aim of the present study was to validate the Finnish version of the Parental Burnout Assessment (PBA) using data from 1,688 Finnish parents (91\% mothers) living in Finland with at least one child living at home. Confirmatory factor analyses supported the theoretical four-factor structure of the PBA – emotional exhaustion in one’s parental role, contrast with previous parental self, feelings of being fed up with one’s parental role, and emotional distancing from one’s children. Internal consistency for the total scale was excellent (Cronbach’s alpha ≥ 0.90) and for the subscales from acceptable (alpha ≥ 0.70) to excellent. The results further demonstrated strict factorial invariance of …
Depression is associated with poor control of symptoms in asthma and rhinitis: A population-based study
2019
Abstract Background Although many studies have highlighted the link between asthma/rhinitis and depression, it is still unclear which characteristics of these diseases are associated with the risk of depression. We aimed to explore the relationship between depression and asthma or rhinitis in a representative sample of the Italian general population. Methods The data were collected in GEIRD, an Italian multicenter, population-based, multicase-control study. 2227 participants (age 21–86 years, female 50%) underwent standardized interviews, skin prick and lung function tests, and were divided into cases of current asthma (n = 528), rhinitis without asthma (n = 972), and controls (n = 727). Tw…
Parent contributions to friendship stability during the primary school years.
2018
The present study examines whether characteristics of parents predict the stability of a child’s best friendships across the primary school years. Participants included 1,523 Finnish children (766 boys) who reported involvement in a total of 1,326 reciprocated friendship dyads in the 1st grade (M = 7.16 years old). At the onset of the study, mothers and fathers completed questionnaires describing their own parenting (i.e., behavioral control, psychological control, and affection toward the child) and depressive symptoms. Child scores for peer status (i.e., acceptance and rejection) were derived from 1st grade peer nomination data. Discrete-time survival analyses predicted the occurrence and…
Clinical Predictors of Response to Magnetic Seizure Therapy in Depression
2019
Objectives Magnetic seizure therapy (MST) is a novel convulsive brain stimulation method in clinical testing, which is used as an alternative for electroconvulsive therapy in patients with treatment-resistant depression (TRD). Preliminary studies have suggested that MST leads to fewer cognitive adverse effects than electroconvulsive therapy but has similar efficacy. However, the clinical predictors of response to MST have not been evaluated yet. This study aimed to investigate whether these predictors can be identified in patients with TRD. Methods Thirty-eight patients with TRD were included. As clinical predictors for treatment response, we used the diagnosis, sex, age, family history, an…