Search results for "Families"
showing 10 items of 164 documents
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
2010
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c…
Adolescents’ health literacy, health protective measures, and health-related quality of life during the Covid-19 pandemic
2020
AbstractPurposeFirst, to describe adolescents’ health information sources and knowledge, health literacy (HL), health protective measures, and health-related quality of life (HRQoL) during the initial phase of the Covid-19 pandemic in Norway. Second, to investigate the association between HL and the knowledge and behavior relevant for preventing spread of the virus. Third, to explore variables associated with HRQoL in a pandemic environment.MethodsThis cross-sectional study includes survey data from 2,205 Norwegian adolescents 16–19 years of age. The participants reported on their health information sources, HL, handwashing knowledge and behavior, number of social interactions, and HRQoL. A…
Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families
2012
Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
2004
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …
The effects of mothers’ musical background on sedentary behavior, physical activity, and exercise adherence in their 5-6-years-old children using mov…
2017
Objectives The purpose of this study was to examine whether mothers’ musical background has an effect on their own and their children’s sedentary behavior (SB) and physical activity (PA). The aim was also to assess children’s and their mothers’ exercise adherence when using movement-to-music video program. Design Sub-group analysis of an intervention group in a randomized controlled trial (ISRCTN33885819). Method Seventy-one mother-child-pairs were divided into two categories based on mothers’ musical background. Each pair performed 8 weeks exercise intervention using movement-to-music video program. SB and PA were assessed objectively by accelerometer, and exercise activity, fidelity, and …
Costs and Benefits of Orthographic Inconsistency in Reading: Evidence from a Cross-Linguistic Comparison.
2016
We compared reading acquisition in English and Italian children up to late primary school analyzing RTs and errors as a function of various psycholinguistic variables and changes due to experience. Our results show that reading becomes progressively more reliant on larger processing units with age, but that this is modulated by consistency of the language. In English, an inconsistent orthography, reliance on larger units occurs earlier on and it is demonstrated by faster RTs, a stronger effect of lexical variables and lack of length effect (by fifth grade). However, not all English children are able to master this mode of processing yielding larger inter-individual variability. In Italian, …
Visões dos agentes envolvidos na concepção, divulgação e utilização de materiais educativos digitais nos portais educativos espanhóis
2019
Este artículo recoge resultados de un estudio más amplio dedicado al análisis de las visiones de los agentes y actores implicados en el diseño, difusión y utilización de los materiales digitales educativos presentes en portales educativos españoles que ofertan servicios y recursos educativos. Forma parte, a su vez, de un proyecto de I+D+i, denominado “Escuela Digital”, dedicado al análisis de la producción y uso de contenidos didácticos digitales en los centros escolares1. El propósito principal del artículo es presentar los resultados de las visiones del profesorado, el alumnado y las familias sobre los materiales digitales presentes en los portales institucionales de Galicia y Valencia, o…
How can we best organise communication with patients’ families?
2018
IF 1.542 (2016); International audience
Metallothionein Gene Family in the Sea Urchin Paracentrotus lividus: Gene Structure, Differential Expression and Phylogenetic Analysis
2017
Metallothioneins (MT) are small and cysteine-rich proteins that bind metal ions such as zinc, copper, cadmium, and nickel. In order to shed some light on MT gene structure and evolution, we cloned seven Paracentrotus lividus MT genes, comparing them to Echinodermata and Chordata genes. Moreover, we performed a phylogenetic analysis of 32 MTs from different classes of echinoderms and 13 MTs from the most ancient chordates, highlighting the relationships between them. Since MTs have multiple roles in the cells, we performed RT-qPCR and in situ hybridization experiments to understand better MT functions in sea urchin embryos. Results showed that the expression of MTs is regulated throughout de…
Effects of cadmium exposure on sea urchin development assessed by SSH and RT-qPCR: metallothionein genes and their differential induction
2012
In order to study the defense strategies activated by Paracentrotus lividus embryos in response to sub-lethal doses of CdCl2, we compared the induced transcripts to that of control embryos by suppression subtractive hybridization technique. We isolated five metallothionein (MT) cDNAs and other genes related to detoxification, to signaling pathway components, to oxidative, reductive and conjugative biotransformation, to RNA maturation and protein synthesis. RT-qPCR analysis revealed that two of the five P. lividus MT (PlMT7 and PlMT8) genes appeared to be constitutively expressed and upregulated following cadmium treatment, whereas the other three genes (PlMT4, PlMT5, PlMT6) are specifically…