scholarly journals The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients

2021 ◽  
Author(s):  
Shin-ichi Usami ◽  
Shin-ya Nishio

AbstractEtiological studies have shown genetic disorders to be a major cause of sensorineural hearing loss, but there are a limited number of comprehensive etiological reports based on genetic analysis. In the present study, the same platform using a diagnostic DNA panel carrying 63 deafness genes and the same filtering algorithm were applied to 10,047 samples obtained from social health insurance-based genetic testing of hearing loss. The most remarkable result obtained in this comprehensive study was that the data first clarified the genetic epidemiology from congenital/early-onset deafness to late-onset hearing loss. The overall diagnostic rate was 38.8%, with the rate differing for each age group; 48.6% for the congenital/early-onset group (~5y.o.), 33.5% for the juvenile/young adult-onset group, and 18.0% for the 40+ y.o. group. Interestingly, each group showed a different kind of causative gene. With regard to the mutational spectra, there are certain recurrent variants that may be due to founder effects or hot spots. A series of haplotype studies have shown many recurrent variants are due to founder effects, which is compatible with human migration. It should be noted that, regardless of differences in the mutational spectrum, the clinical characteristics caused by particular genes can be considered universal. This comprehensive review clarified the detailed clinical characteristics (onset age, severity, progressiveness, etc.) of hearing loss caused by each gene, and will provide useful information for future clinical application, including genetic counseling and selection of appropriate interventions.

PLoS ONE ◽  
2016 ◽  
Vol 11 (9) ◽  
pp. e0162230 ◽  
Author(s):  
Kentaro Mori ◽  
Hideaki Moteki ◽  
Maiko Miyagawa ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami

2007 ◽  
Author(s):  
Jürgen Wasem ◽  
Hans-Dieter Nolting ◽  
Yvonne Grabbe ◽  
Stefan Loos

2021 ◽  
Vol 6 (2) ◽  
pp. e004117
Author(s):  
Aniqa Islam Marshall ◽  
Kanang Kantamaturapoj ◽  
Kamonwan Kiewnin ◽  
Somtanuek Chotchoungchatchai ◽  
Walaiporn Patcharanarumol ◽  
...  

Participatory and responsive governance in universal health coverage (UHC) systems synergistically ensure the needs of citizens are protected and met. In Thailand, UHC constitutes of three public insurance schemes: Civil Servant Medical Benefit Scheme, Social Health Insurance and Universal Coverage Scheme. Each scheme is governed through individual laws. This study aimed to identify, analyse and compare the legislative provisions related to participatory and responsive governance within the three public health insurance schemes and draw lessons that can be useful for other low-income and middle-income countries in their legislative process for UHC. The legislative provisions in each policy document were analysed using a conceptual framework derived from key literature. The results found that overall the UHC legislative provisions promote citizen representation and involvement in UHC governance, implementation and management, support citizens’ ability to voice concerns and improve UHC, protect citizens’ access to information as well as ensure access to and provision of quality care. Participatory governance is legislated in 33 sections, of which 23 are in the Universal Coverage Scheme, 4 in the Social Health Insurance and none in the Civil Servant Medical Benefit Scheme. Responsive governance is legislated in 24 sections, of which 18 are in the Universal Coverage Scheme, 2 in the Social Health Insurance and 4 in the Civil Servant Medical Benefit Scheme. Therefore, while several legislative provisions on both participatory and responsive governance exist in the Thai UHC, not all schemes equally bolster citizen participation and government responsiveness. In addition, as legislations are merely enabling factors, adequate implementation capacity and commitment to the legislative provisions are equally important.


BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e044322
Author(s):  
Wenqi Fu ◽  
Jufang Shi ◽  
Xin Zhang ◽  
Chengcheng Liu ◽  
Chengyao Sun ◽  
...  

ObjectivesTo determine the incidence and intensity of household impoverishment induced by cancer treatment in China.DesignAverage income and daily consumption per capita of the households and out-of-pocket payments for cancer care were estimated. Household impoverishment was determined by comparing per capita daily consumption against the Chinese poverty line (CPL, US$1.2) and the World Bank poverty line (WBPL, US$1.9) for 2015. Both pre-treatment and post-treatment consumptions were calculated assuming that the households would divert daily consumption money to pay for cancer treatment.ParticipantsCancer patients diagnosed initially from 1 January 2015 to 31 December 2016 who had received cancer treatment subsequently. Those with multiple cancer diagnoses were excluded.Data sourcesA household questionnaire survey was conducted on 2534 cancer patients selected from nine hospitals in seven provinces through two-stage cluster/convenience sampling.Findings5.89% (CPL) to 12.94% (WBPL) households were impoverished after paying for cancer treatment. The adjusted OR (AOR) of post-treatment impoverishment was higher for older patients (AOR=2.666–4.187 for ≥50 years vs <50 years, p<0.001), those resided in central region (AOR=2.619 vs eastern, p<0.01) and those with lower income (AOR=0.024–0.187 in higher income households vs the lowest 20%, p<0.001). The patients without coverage from social health insurance had higher OR (AOR=1.880, p=0.040) of experiencing post-treatment household impoverishment than those enrolled with the insurance for urban employees. Cancer treatment is associated with an increase of 5.79% (CPL) and 12.45% (WBPL) in incidence of household impoverishment. The median annual consumption gap per capita underneath the poverty line accumulated by the impoverished households reached US$128 (CPL) or US$212 (WBPL). US$31 170 395 (CPL) or US$115 238 459 (WBPL) were needed to avoid household impoverishment induced by cancer treatment in China.ConclusionsThe financial burden of cancer treatment imposes a significant risk of household impoverishment despite wide coverage of social health insurance in China.


2018 ◽  
Vol 3 (1) ◽  
pp. e000582 ◽  
Author(s):  
Neeraj Sood ◽  
Zachary Wagner

Life-saving technology used to treat catastrophic illnesses such as heart disease and cancer is often out of reach for the poor. As life expectancy increases in poor countries and the burden from chronic illnesses continues to rise, so will the unmet need for expensive tertiary care. Understanding how best to increase access to and reduce the financial burden of expensive tertiary care is a crucial task for the global health community in the coming decades. In 2010, Karnataka, a state in India, rolled out the Vajpayee Arogyashree scheme (VAS), a social health insurance scheme focused on increasing access to tertiary care for households below the poverty line. VAS was rolled out in a way that allowed for robust evaluation of its causal effects and several studies have examined various impacts of the scheme on poor households. In this analysis article, we summarise the key findings and assess how these findings can be used to inform other social health insurance schemes. First, the evidence suggests that VAS led to a substantial reduction in mortality driven by increased tertiary care utilisation as well as use of better quality facilities and earlier diagnosis. Second, VAS significantly reduced the financial burden of receiving tertiary care. Third, these benefits of social health insurance were achieved at a reasonable cost to society and taxpayers. Several unique features of VAS led to its success at improving health and financial well-being including effective outreach via health camps, targeting expensive conditions with high disease burden, easy enrolment process, cashless treatment, bundled payment for hospital services, participation of both public and private hospitals and prior authorisation to improve appropriateness of care.


Sign in / Sign up

Export Citation Format

Share Document