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Abstract: Recently, a large-scale genetic epidemiological study has shown significant association of single nucleotide polymorphisms (SNPs) in the protein kinase C η (PRKCH) gene with cerebral infarction, particularly, with lacunar infarction. To extend the findings, we tested association of two SNPs previously reported – rs3783799 and rs2230500 – in PRKCH with silent lacunar infarction (SLI), which has drawn substantial attention in the aging societies. Disease association was tested in the case–control study design. Subjects with and without SLI were recruited from people who underwent a health-screening examination including brain MRI. Two SNPs were genotyped and proven to be in complete linkage disequilibrium (D′=1.00, r 2 =1.00) and thus showed comparable results of disease association, which were reproduced in two panels collected independently. In the entire population involving 295 cases and 497 controls, two SNPs remained to be significantly associated with SLI under a dominant model even after adjustment for confounding factors such as hypertension (e.g., genetic effects of rs2230500, P =0.0026 for AA+AG vs. GG, adjusted odds ratio=1.27; 95% CI, 1.09–1.48). As the two SNPs appear to be common only in Asian people, further replication study is warranted in the other Asian populations as well as the Japanese. [Copyright &y& Elsevier]

Purpose: To investigate the factors associated with endothelial survival after Descemet's membrane endothelial keratoplasty (DMEK) in eyes of Asian patients with bullous keratopathy (BK)., Methods: In this retrospective, consecutive interventional case series, 72 eyes of 72 patients who underwent DMEK were evaluated. Best corrected visual acuity (BCVA) and corneal endothelial cell density (ECD) were assessed at 12 months postoperatively. Multiple regression analysis was performed to assess parameters such as age, sex, axial length, preoperative visual acuity, re-bubbling, the ratio of graft to cornea area, iris damage scores, types of filling gases, air or SF6 volume in the anterior chamber (AC) on postoperative day 1, and ECD loss rates at 12 months postoperatively., Results: BCVA improved significantly at 12 months after DMEK (P < .001). The rate of ECD loss at 12 months after DMEK was 54.4 ± 16.1%. Multiple linear regression analysis showed that a larger ratio of graft to corneal area (P = 0.0061) and higher donor ECD (P = 0.042) were the primary factors for a lower ECD loss rate at 12 months after DMEK., Conclusion: A relatively larger graft size compared to the host cornea and more donor ECD might help endothelial survival in patients with BK. Moreover, for such patients, the surgeon should attempt to use a relatively larger graft size when performing DMEK, particularly in Asian eyes., Competing Interests: The authors have declared that no competing interests exist.

The Asian Diversity Project (ADP) assembled 37 cosmopolitan and ethnic minority populations in Asia that have been densely genotyped across over half a million markers to study patterns of genetic diversity and positive natural selection. We performed population structure analyses of the ADP populations and divided these populations into four major groups based on their genographic information. By applying a highly sensitive algorithm haploPS to locate genomic signatures of positive selection, 140 distinct genomic regions exhibiting evidence of positive selection in at least one population were identified. We examined the extent of signal sharing for regions that were selected in multiple populations and observed that populations clustered in a similar fashion to that of how the ancestry clades were phylogenetically defined. In particular, populations predominantly located in South Asia underwent considerably different adaptation as compared with populations from the other geographical regions. Signatures of positive selection present in multiple geographical regions were predicted to be older and have emerged prior to the separation of the populations in the different regions. In contrast, selection signals present in a single population group tended to be of lower frequencies and thus can be attributed to recent evolutionary events.

Sixty genetic loci associated with abdominal obesity, measured by waist circumference (WC) and waist-hip ratio (WHR), have been previously identified, primarily from studies conducted in European-ancestry populations. We conducted a meta-analysis of associations of abdominal obesity with approximately 2.5 million single nucleotide polymorphisms (SNPs) among 53,052 (for WC) and 48,312 (for WHR) individuals of Asian descent, and replicated 33 selected SNPs among 3,762 to 17,110 additional individuals. We identified four novel loci near the EFEMP1, ADAMTSL3 , CNPY2, and GNAS genes that were associated with WC after adjustment for body mass index (BMI); two loci near the NID2 and HLA-DRB5 genes associated with WHR after adjustment for BMI, and three loci near the CEP120, TSC22D2, and SLC22A2 genes associated with WC without adjustment for BMI. Functional enrichment analyses revealed enrichment of corticotropin-releasing hormone signaling, GNRH signaling, and/or CDK5 signaling pathways for those newly-identified loci. Our study provides additional insight on genetic contribution to abdominal obesity.

A total of 56 C. difficile strains were selected from 310 isolates obtained from different hospitals in Japan and Korea and from healthy infants from Indonesia. Strains that had been previously typed by pulsed-field gel electrophoresis and PCR ribotyping, were characterized by toxinotyping and binary toxin gene detection. When toxinotyped, 35 strains were determined to be toxinotype 0, whereas 21 strains showed variations in toxin genes and could be grouped into 11 variant toxinotypes. Six of the toxinotypes had been described before (I, III, IV, VIII, IX, and XII). In addition, five new toxinotypes were defined (XVI to XX). Three of the new toxinotypes (XVIII, XIX, and XX) vary only in repetitive regions of tcdA and produce both toxins. In two strains from toxinotypes XVI and XVII, the production of TcdA could not be detected with commercial immunological kits. Strain J9965 (toxinotype XVII) was in PaLoc similar but not identical to another known A(-)B(+) strain, C. difficile 8864. Strain SUC 36 (toxinotype XVI), on the other hand, was similar to well-defined group consisting of toxinotypes V, VI, and VII, which thus far includes only A(+)B(+) strains. Toxinotypes XVI and XVII represent two new groups of A(-)B(+) strains. Strains of the well-known A(-)B(+) group from toxinotype VIII have a nonsense mutation at the beginning of tcdA gene, and the introduction of a stop codon at amino acid position 47 results in nonproduction of TcdA. The 5'-end sequence of tcdA in two newly described A(-)B(+) strains does not contain an identical mutation. The prevalence of variant C. difficile strains varied greatly among nine hospitals. Only five strains from four different hospitals were positive in PCR for amplification of the binary toxin gene.

A 28-year old Japanese man with heroin abuse was reported. He is an ex-beautician and has abused a variety of substances such as toluene, marihuana, methamphetamine, LSD, and so on since he was in a junior high school in Japan. He experienced an intravenous injection of heroin for five days on his first trip to Thailand in 1989. Soon after he returned home, he went back there to use heroin again. He also experienced tearing and running nose as withdrawal at the end of his ten-day trip. During his third stay there he got a job as a wholesale dealer of heroin under a illegal drug organization in the northern part of Thailand. Before he returned home in Japan, he managed to withdraw from heroin by reducing the dose and replacing it with opium smoking. On his fourth trip he failed to withdraw from heroin and injected the drug intravenously at Chiang Mai Airport before leaving Thailand. He began to show acute heroin withdrawal just after he arrived in Osaka, Japan and sought treatment without telling heroin abuse. He was hospitalized next day and soon showed more severe withdrawal and delirium for next ten days. The delirium was thought to be due to not only heroin but the other drugs which he used. Recently heroin abuse, once prevalent during the latter half of 1950s in Japan, has been hardly seen owing to changing the law to severe punishment in 1963. To avoid strict regulations in home some of young Japanese seem to travel abroad and abuse drugs in Asian countries where the drugs are easily available.(ABSTRACT TRUNCATED AT 250 WORDS)