To improve health care for older persons, we need to learn more about ageing, e.g. identify protective factors and early markers for diseases. The Gothenburg H70 Birth Cohort Studies (the H70 studies) are multidisciplinary epidemiological studies examining representative birth cohorts of older populations in Gothenburg, Sweden. So far, six birth cohorts of 70-year-olds have been examined over time, and examinations have been virtually identical between studies. This paper describes the study procedures for the baseline examination of the Birth cohort 1944, conducted in 2014–16. In this study, all men and women born 1944 on specific dates, and registered as residents in Gothenburg, were eligible for participation (n = 1839). A total of 1203 (response rate 72.2%; 559 men and 644 women; mean age 70.5 years) agreed to participate in the study. The study comprised sampling of blood and cerebrospinal fluid, psychiatric, cognitive, and physical health examinations, examinations of genetics and family history, use of medications, social factors, functional ability and disability, physical fitness and activity, body composition, lung function, audiological and ophthalmological examinations, diet, brain imaging, as well as a close informant interview, and qualitative studies. As in previous examinations, data collection serves as a basis for future longitudinal follow-up examinations. The research gained from the H70 studies has clinical relevance in relation to prevention, early diagnosis, clinical course, experience of illness, understanding pathogenesis and prognosis. Results will increase our understanding of ageing and inform service development, which may lead to enhanced quality of care for older persons. Electronic supplementary material The online version of this article (10.1007/s10654-018-0459-8) contains supplementary material, which is available to authorized users.

Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons, respectively. More than 120 different disease-causing mutations have been reported, however, most of the previous reports concern mutations restricted to exons 1-21 of the USH2A gene. To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene. Altogether, 122 USH2A DNA sequence alterations were identified of which 57 were predicted to be disease-causing, 7 were considered to be of uncertain pathogenicity and 58 were predicted to be benign variants. Of 36 novel pathogenic USH2A mutations 31 were located in exons 22-73, specific to the long isoform. USH2A mutations were identified in 89/118 (75.4%) families. In 79/89 (88.8%) of these families two pathogenic mutations were identified whereas in 10/89 (11.2%) families the second mutation remained unidentified. In 5/118 (4.2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date.

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Patients with a mixed hearing loss present special challenges. The amplification demands of mixed hearing loss can drive powerful digital hearing aids to their limits and introduce distortion through saturation. Conversely, the Baha System effectively bypasses the conductive component and focuses on compensating for the sensorineural component of the hearing loss. Ten patients with a mixed hearing loss participated in the present study. Results indicate that Baha provided significant benefits (p < 0.01) over conventional air conduction hearing instruments across the dimensions of audibility, speech understanding and sound quality. Given the increased output force of the latest Baha instruments, once the conductive component of a severe mixed hearing loss becomes greater than 30 dB, a Baha should be considered and evaluated on audiological grounds alone to provide optimal amplification.

Objectivethe world population is ageing rapidly. In light of these demographic changes, it is of interest to generate current data regarding the prevalence and characteristics of age-related hearing loss. The purpose of this study was to investigate hearing acuity and the prevalence of hearing loss in a contemporary age-homogenous cohort of old adults, and to assess secular trends in hearing function during the last half-century (1971–2014).Methodswe performed a prospective population-based cohort comparison study of unscreened populations. As part of a geriatric population-based study (H70), a new cohort of 70-year olds (n = 1,135) born in 1944 was tested with computerised automated pure-tone audiometry. The hearing thresholds were compared to three earlier born cohorts of 70-year olds, born in 1901–02 (n = 376), 1906–07 (n = 297) and 1922 (n = 226), respectively.Resultssignificant improvements in median pure-tone thresholds were seen at several frequencies in both men (range: 5–20 dB, P < 0.01) and women (range: 5–10 dB, P < 0.01). When investigating the effect of birth cohort on hearing in a linear regression, significant trends were found. Men’s hearing improved more than women’s. The prevalence of hearing loss declined in the study period (1971–2014) from 53 to 28% for men and 37 to 23% for women (P < 0.01).Conclusionsthese results indicate that the hearing acuity in Swedish 70-year olds has improved significantly over more than four decades. The largest improvements were seen at 4–6 kHz in men, possibly reflecting a decrease in occupational noise exposure. Further studies are required to pinpoint the reasons for improved hearing-health among older people.