Socioeconomic inequalities in occupational, leisure-time, and transport related physical activity among European adults: A systematic review

<p>Abstract</p> <p>Background</p> <p>This study systematically reviewed the evidence pertaining to socioeconomic inequalities in different domains of physical activity (PA) by European region.</p> <p>Methods</p> <p>Studies conducted between January 2000 and December 2010 were identified by a systematic search in Pubmed, Embase, Web of Science, Psychinfo, Sportdiscus, Sociological Abstracts, and Social Service Abstracts. English-language peer-reviewed studies undertaken in the general population of adults (18–65 years) were classified by domain of PA (total, leisure-time including sport, occupational, active transport), indicator of socioeconomic position (education, income, occupation), and European region. Distributions of reported positive, negative, and null associations were evaluated.</p> <p>Results</p> <p>A total of 131 studies met the inclusion criteria. Most studies were conducted in Scandinavia (n = 47). Leisure-time PA was the most frequently studied PA outcome (n = 112). Considerable differences in the direction of inequalities were seen for the different domains of PA. Most studies reported that those with high socioeconomic position were more physically active during leisure-time compared to those with low socioeconomic position (68% positive associations for total leisure-time PA, 76% for vigorous leisure-time PA). Occupational PA was more prevalent among the lower socioeconomic groups (63% negative associations). Socioeconomic differences in total PA and active transport PA did not show a consistent pattern (40% and 38% positive associations respectively). Some inequalities differed by European region or socioeconomic indicator, however these differences were not very pronounced.</p> <p>Conclusions</p> <p>The direction of socioeconomic inequalities in PA in Europe differed considerably by domain of PA. The contradictory results for total PA may partly be explained by contrasting socioeconomic patterns for leisure-time PA and occupational PA.</p

Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

Contains fulltext : 153519.pdf (publisher's version ) (Closed access)OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN: A Dutch family with autosomal recessively inherited hearing loss was examined. Audiometric, ophthalmic, and vestibular evaluations were performed besides the genetic analysis. RESULTS: The hearing loss had an early onset with a downsloping audiogram configuration. Slight progression of the hearing loss was seen in both affected individuals. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss in this family, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). Extensive ophthalmic and vestibular examinations demonstrated no abnormalities that are usually associated with Usher syndrome type I. CONCLUSIONS: This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G. Our findings expand the phenotypic spectrum of mutations in USH1G

Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN: A Dutch family with autosomal recessively inherited hearing loss was examined. Audiometric, ophthalmic, and vestibular evaluations were performed besides the genetic analysis. RESULTS: The hearing loss had an early onset with a downsloping audiogram configuration. Slight progression of the hearing loss was seen in both affected individuals. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss in this family, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). Extensive ophthalmic and vestibular examinations demonstrated no abnormalities that are usually associated with Usher syndrome type I. CONCLUSIONS: This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G. Our findings expand the phenotypic spectrum of mutations in USH1G

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

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MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse

DOOFNL Consortium.In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs∗22). By screening a cohort of phenotype-matched subjects and a cohort of HI subjects in whom WES had been performed previously, we identified two additional families with biallelic truncating variants of MPZL2. Affected individuals demonstrated symmetric, progressive, mild to moderate sensorineural HI. Onset of HI was in the first decade, and high-frequency hearing was more severely affected. There was no vestibular involvement. MPZL2 encodes myelin protein zero-like 2, an adhesion molecule that mediates epithelial cell-cell interactions in several (developing) tissues. Involvement of MPZL2 in hearing was confirmed by audiometric evaluation of Mpzl2-mutant mice. These displayed early-onset progressive sensorineural HI that was more pronounced in the high frequencies. Histological analysis of adult mutant mice demonstrated an altered organization of outer hair cells and supporting cells and degeneration of the organ of Corti. In addition, we observed mild degeneration of spiral ganglion neurons, and this degeneration was most pronounced at the cochlear base. Although MPZL2 is known to function in cell adhesion in several tissues, no phenotypes other than HI were found to be associated with MPZL2 defects. This indicates that MPZL2 has a unique function in the inner ear. The present study suggests that deleterious variants of Mplz2/MPZL2 affect adhesion of the inner-ear epithelium and result in loss of structural integrity of the organ of Corti and progressive degeneration of hair cells, supporting cells, and spiral ganglion neurons.This work was supported by a grant from the Heinsius Houbolt Foundation (to H.K., R.J.E.P., and H.P.M.K.) and partially by grants from the Spanish Ministry of Economy and Competitiveness and the European Regional Development Fund (Fonds Europeen de Developpement Economique et Regional, [FEDER]: SAF2014-53979-R) and from FEDER, CIBERER, and Instituto de Salud Carlos III (ISCIII) (to I.V.N.), and a grant from ISCIII to I.d.C. (PI14/01162; Plan Estatal de IþDþI 2013-2016, with co-funding from the European Regional Development Fund). S.M., A.M.C., and E.G.R. hold CIBERER ISCIII researcher contracts.Peer reviewe