Living Conditions, Ability to Seek Medical Treatment, and Awareness of Health Conditions and Healthcare Options among Homeless Persons in Tokyo, Japan

Empirical data indicative of the health conditions and medical needs of homeless persons are scarce in Japan. In this study, with the aim of contributing to the formulation of future healthcare strategies for the homeless, we conducted a self-administered questionnaire survey and interviews at a park in Shinjuku Ward, Tokyo, to clarify the living conditions of homeless persons and their health conditions and awareness about the availability of medical treatment. Responses from 55 homeless men were recorded (response rate:36.7%). With the exception of one person, none of them possessed a health insurance certificate. Half of the respondents reported having a current income source, although their modal monthly income was 30,000 yen($1 was approximately 90 yen). The number of individuals who responded "yes" to the questions regarding "Consulting a doctor on the basis of someone's recommendation" and "Being aware of the location of the nearest hospital or clinic" was significantly higher among those who had someone to consult when they were ill than among those who did not (the odds ratios [95% confidence intervals] were 15.00 [3.05-93.57] and 11.45 [1.42-510.68], respectively). This showed that whether or not a homeless person had a person to consult might influence his healthcare-seeking behavior. When queried about the entity they consulted (multiple responses acceptable), respondents mentioned "life support organizations" (61.1%) and "public offices" (33.3%). Overall, 94.5% of the respondents were aware of swine flu (novel influenza A (H1N1)). Their main sources of information were newspapers and magazines. On the basis of these findings, with regard to the aim of formulating healthcare strategies for homeless persons, while life support organizations and public offices play significant roles as conduits to medical institutions, print media should be considered useful for communicating messages to homeless persons

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

もやもや病感受性遺伝子の特定とその機能についての発見. 京都大学プレスリリース. 2011-7-21.Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown. Methodology/Principal Findings Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10-4). Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria. There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p.N321S variant in PCMTD1 could not be confirmed by the Sanger method. Sequencing RNF213 in 42 index cases confirmed p.R4810K and revealed it to be the only unregistered variant. Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families. Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except p.R4810K. A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10−119). Sequencing of RNF213 in East Asian cases revealed additional novel variants: p.D4863N, p.E4950D, p.A5021V, p.D5160E, and p.E5176G. Among Caucasian cases, variants p.N3962D, p.D4013N, p.R4062Q and p.P4608S were identified. RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain. These exhibit ATPase and ubiquitin ligase activities. Although the mutant alleles (p.R4810K or p.D4013N in the RING domain) did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels. Conclusions/Significance We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease