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Background: Ustekinumab, an interleukin-12/23 inhibitor, is effective in the treatment of psoriasis. A recent Italian study showed more favourable response to ustekinumab in patients with positive human leucocyte antigen (HLA)-Cw6. Nonetheless, there are differences in genetic susceptibility to psoriasis between races, and no studies have specifically assessed the candidate genetic markers in predicting therapy outcome in Chinese patients with psoriasis treated with ustekinumab., Objectives: To determine whether HLA gene polymorphisms can predict the response to ustekinumab in Chinese patients with psoriasis., Methods: Sixty-six patients with psoriasis treated with ustekinumab were included in the study, and the effectiveness of ustekinumab therapy was evaluated at weeks 0, 16 and 28 by Psoriasis Area and Severity Index (PASI)., Results: More HLA-Cw6-positive patients achieved a PASI 75 response at week 4 compared with HLA-Cw6-negative patients (38% vs. 9%, P = 0·019). Similarly, at week 16, patients carrying the HLA-Cw6 allele showed a higher likelihood of achieving PASI 50, 75 and 90 than Cw6-negative patients, although this was not statistically significant. At week 28, a significantly higher percentage of HLA-Cw6-positive patients maintained PASI 90 response compared with Cw6-negative patients (63% vs. 26%, P = 0·035). Further analysis of other HLA allele polymorphisms did not show significant associations with therapeutic response to ustekinumab., Conclusions: This pharmacogenetic study provides preliminary data indicating that positive HLA-Cw6 is associated with a good response to ustekinumab treatment in Chinese patients with psoriasis., (© 2014 British Association of Dermatologists.)

Background: HLA-Cw*06 has a strong influence on the clinical features and the susceptibility to psoriasis in different ethnicities. It is also used as a biomarker to predict the therapeutic efficacy of biologics, with inconsistent results. Additionally, most Asian patients with psoriasis do not carry HLA-Cw*06., Objectives: To determine additional HLA alleles which confer susceptibility or affect the severity of psoriasis in Chinese Han individuals. In addition, the potential of using HLA to predict treatment outcomes was also investigated., Methods: We conducted a case-control association study in 199 Chinese patients with psoriasis and 200 unrelated healthy controls. HLA-B and HLA-C genotyping was performed and correlated with the therapeutic efficacy of the biologics, including alefacept, efalizumab, etanercept and ustekinumab. Patients with psoriasis were divided into group A (high-need patients with moderate to severe psoriasis) and B (general patients with psoriasis)., Results: The frequencies of HLA-B*60, HLA-B*75, HLA-Cw*06 and HLA-Cw*10 were significantly increased in patients with psoriasis compared with the healthy controls. However, the prevalence of HLA-Cw*06 was lower in group A compared with group B (6% vs. 17%, Pc=0·04). HLA-B*46 was found to be strongly associated with group A but not with group B patients with psoriasis. HLA-Cw*01/HLA-B*46 was also identified as a risk haplotype for Chinese patients with psoriasis, compatible with the results in Thais. Significant differences in response to biologics were observed between HLA-Cw*01+ and HLA-Cw*01- individuals in the alefacept treatment group, and between HLA-B*37+ and HLA-B*37-, and HLA-B*58+ and HLA-B*58- individuals in the efalizumab treatment group., Conclusions: In addition to HLA-Cw*06, the HLA-Cw*01/HLA-B*46 haplotype was also increased in Chinese patients with psoriasis. High-need patients with psoriasis had a lower frequency of HLA-Cw*06 but a higher prevalence of HLA-B*46 compared with general patients with psoriasis in our population., (© 2011 The Authors. BJD © 2011 British Association of Dermatologists.)

FHIT located at chromosome 3p14.2 was discovered and proposed as a candidate tumor suppressor gene in several cancers. To determine whether the FHIT gene at 3p14.2 is altered in Chinese brain tumors, we examined 13 brain tumors for deletions within FHIT locus. Evaluation of the FHIT gene in the panel of brain tumors led to a comprehensive mutation analysis. The complete sequence of the FHIT gene was determined and deletions between exon 5-8 were found in all 13 cases. In addition, single point mutation of amino acid from two glioblastoma and one atypical meningioma cases and multiple amino acid mutations from one pituitary tumor were observed. Our results support the hypothesis that FHIT gene alteration is involved in tumorigenic development of human neoplasms.

Vertical root fractures (VRFs) in teeth without endodontic treatment are uncommon. A clinical study was done on 64 cases of VRFs in 61 Chinese patients to define better the clinical characteristics, diagnostic signs, and possible causes. Results showed that fractures occurred most often in first molars of patients between 40 and 69 yr of age, and the incidence was two times higher in males than in females. Flat roots with smaller mesiodistal diameters were more prone to fracture. The majority (79%) of patients had intact dentition with less than four teeth missing. Fractured teeth were frequently attrited with no restorations. VRFs may result from excessive or repetitive masticatory force due to damaging chewing habits exerted on flat roots of smaller mesiodistal diameter. Nonendodontic VRFs seem to occur more frequently than earlier believed and may represent an underdiagnosed clinical entity deserving of our attention.

Background: Japanese encephalitis is a major cause of death and disability throughout Asia, including the Indian subcontinent. Although an effective vaccine for Japanese encephalitis is available, hundreds of millions of susceptible individuals remain unimmunised because of the vaccine's cost. In 1988, an inexpensive live-attenuated vaccine (SA14-14-2) was licensed in China. We have measured the effectiveness of this vaccine., Methods: In a case-control study in rural Sichuan Province, China, the 56 cases consisted of children admitted to hospital with acute Japanese encephalitis, and were confirmed serologically. 1299 village-matched and age-matched controls were identified, and vaccination histories obtained from pre-existing written records., Findings: The effectiveness of one dose was 80% (95% Cl 44 to 93%); that of two doses was 97.5% (86 to 99.6%). Controlling for multiple potential confounders did not alter these results., Interpretation: We conclude that a regimen of two doses of live-attenuated Japanese encephalitis vaccine, administered 1 year apart, is effective in the prevention of clinically important disease. Subsequent study is needed to assure the safety of this vaccine.

A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilibrium with restriction fragment length polymorphism haplotype 4. In addition, another mutation (R408W), at the same codon and prevalent on haplotype 2 PKU chromosomes in Caucasians, is identified in a PKU allele of haplotype 41. Previously, this mutation has been observed on a haplotype 44 background in Chinese PKU patients.

In the first case-control study analyzing risk factors in sporadic hemorrhagic fever with renal syndrome, 111 cases occurring in Shanghai in 1983 and 1984 and 136 matched controls were studied. Three factors were associated with risk of disease: travel in the month before onset of illness, intense exposure to rodents in the home, and cat ownership. Risk associated with cat ownership was not confounded by exposure to rodents in the home. Neither cat ownership nor risk associated with rodent exposure was confounded by history of travel. The role of cats as reservoir hosts of Hantaan virus is undefined, but this epidemiologic study indicates that infected cats may pose an important risk in the spread of this virus to humans. A survey of peridomestic animals in suburban Shanghai disclosed Hantaan virus infections in two rodent species and in an insectivore, Suncus murinus.