Search results for "Earing"
showing 10 items of 867 documents
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
2015
Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium-and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both…
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
2004
The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH sy…
Epidemiological study of nonsyndromic hearing loss in Sicilian newborns
2007
Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the d…
Petrography and high-resolution geochemical records of Lower Jurassic manganese-rich deposits from Monte Mangart, Julian Alps
2016
Deposits with unusually high Mn contents sampled at Monte Mangart in the Julian Alps include organic-rich marlstone and black shale with interbedded manganoan and siliceous limestone, which were deposited during the early Toarcian Oceanic Anoxic Event. Mn enrichment during that period has been related to global sea-level change coincident with increasing subsidence rate. The formation of Fe-Mn nodules, marking a hardground at the base of the Monte Mangart section, seems to be triggered by release of Mn from remote hydrothermal vents into a region of relatively elevated submarine topography where oxidizing conditions prevailed. However, very high Mn contents in carbonate phases above the har…
Caring, employment, and quality of life: comparison of employed and nonemployed mothers of adults with intellectual disability.
2010
Abstract The effects of caregiving on mothers of adults with intellectual disability was examined by determining whether there are differences in quality of life and related factors between mothers with different employment status. Study participants were 302 working-age mothers who had adult children with intellectual disability based on the 2008 census survey on intellectual disability carried out in Hsinchu, City, Taiwan. Results revealed that nonemployed mothers are more likely to have a lower level of health status, including the WHOQOL Physical Health domain, than are mothers employed fulltime. Multiple regression analysis showed that mothers' quality of life was significantly determi…
Self-reported hearing is associated with time spent out-of-home and withdrawal from leisure activities in older community-dwelling adults.
2015
Background Hearing difficulties are prevalent among older people and can lead to difficulties in social interaction. These difficulties may increase the tendency to remain at home and withdraw from leisure activities. Aims To investigate whether self-reported hearing problems are associated with time spent out-of-home and withdrawal from a leisure activity among older persons. Methods Cross-sectional and longitudinal data on 75- to 90-year-old community-dwelling men and women (n = 767) was used. Self-reports of hearing, diseases, and difficulty walking 2 km were obtained via home interviews at baseline, and withdrawal from a leisure activity via 1- and 2-year follow-up telephone interviews.…
Hearing loss and use of health services : a population-based cross-sectional study among Finnish older adults
2015
Background Older adults with hearing difficulties face problems of communication which may lead to underuse of health services. This study investigated the association of hearing loss and self-reported hearing difficulty with the use of health services and unmet health care needs in older adults. Methods Data on persons aged 65 and older (n = 2144) drawn from a population-based study, Health 2000, were analyzed. Hearing loss was determined with screening audiometry (n = 1680). Structured face-to-face interviews were used to assess self-reported hearing difficulty (n = 1962), use of health services (physician and nurse visits, health examinations, mental health services, physical therapy, he…
Dual sensory loss and social participation in older Europeans
2013
The purpose of the study was to describe the prevalence of hearing difficulties, vision difficulties and dual sensory difficulties in 11 European countries, and to study whether sensory difficulties are associated with social inactivity in older Europeans. This cross-sectional study is based on the 2004 data collection of the Survey of Health, Ageing and Retirement in Europe comprising 27,536 men and women aged 50 years and older. Hearing and vision difficulties, as well as participation in seven different social activities were assessed using a structured computer-assisted personal interview. Logistic regression models were used for analyses. Altogether, 5.9 % of the participants reported …
Pharmacological treatment of sensorineural hearing loss
2019
Sudden sensorineural hearing loss is a common and alarming symptom of about 360 million people that suffer from hearing impairment worldwide. The sudden sensorineural hearing loss usually arises unilaterally and it is habitually described as greater than 30dB hearing reduction, attributable to lesions of the cochlea, cranial nerve VIII, brainstem and temporal lobe. There are many factor that promote the onset of this lesions such us infections, circulatory diseases, inner ear neoplasia and neurological disorders. This pathology is characterized by primary symptoms such as the impairment of the comprehension of spoken language and the struggling to listen to music. Subsequently, secondary sy…
Das Cogan-I-Syndrom
2003
Wir berichten uber 2 Patienten, die seit dem Sauglings- und Kleinkindesalter unter einem Cogan-I-Syndrom leiden.Bei diesem seltenen Krankheitsbild handelt es sich um eine akute oder schubweise Verschlechterung der Horleistung des Innenohrs mit vestibularer Symptomatik und einer nichtsyphilitischen interstitiellen Keratitis oder anderen entzundlichen okularen Symptomen beim atypischen Cogan-I-Syndrom. Die erste Patientin erkrankte im 5.Lebensjahr an verschiedenen okularen Entzundungen, sodass ein Auge im 8.Lebensjahr erblindete.Zu dieser Zeit begann die Horverschlechterung. Im Alter von 17 Jahren litt die Patientin beidseits unter einer an Taubheit grenzenden Schwerhorigkeit. Bei dem zweiten…