Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least 16 genes have been identified as causative genes for human OCA. No comprehensive analysis has been conducted to study the spectral distribution of OCA in Chinese patients. We screened 127 unrelated and unselected Chinese OCA patients for mutations in the TYR, OCA2, TYRP1, SLC45A2, and HPS1 genes. We found that the spectrum of mutational genes and alleles of OCA is population specific. OCA1 is the most common (70.1% of cases) form of Chinese OCA, whereas OCA2, OCA4, and HPS1 account for 10.2%, 12.6%, and 1.6%, respectively. No apparent pathological mutation of TYRP1 has been found. Thirty-eight previously unreported mutational alleles were identified from these OCA patients and were not found in 100 nonalbinism subjects. Of the TYR mutational alleles, 81.1% were clustered on exons 1 and 2. Ten common alleles account for 74.6% of the mutational TYR alleles in Chinese OCA1 patients. The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. These results provide useful information for the establishment of an optimized strategy of gene diagnosis and genetic counseling of Chinese OCA patients.

Abstractobjective There is a high burden of both diabetes (DM) and tuberculosis (TB) in China, and this study aimed to assess feasibility and results of screening patients with TB for DM within the routine healthcare setting of six health facilities.method Agreement on how to screen, monitor and record was reached in May 2011 at a stakeholders' meeting, and training was carried out for staff in the six facilities in July 2011. Implementation started in September 2011, and we report on 7 months of activities up to 31 March 2012.results There were 8886 registered patients with TB. They were first asked whether they had DM. If the answer was no, they were screened with a random blood glucose (RBG) followed by fasting blood glucose (FBG) in those with RBG ‡ 6.1 mm (one facility) or with an initial FBG (five facilities). Those with FBG ‡ 7.0 mm were referred to DM clinics for diagnostic confirmation with a second FBG. Altogether, 1090 (12.4%) patients with DM were identified, of whom 863 (9.7%) had a known diagnosis of DM. Of 8023 patients who needed screening for DM, 7947 (99%) were screened. This resulted in a new diagnosis of DM in 227 patients (2.9% of screened patients), and of these, 226 were enrolled to DM care. In addition, 575 (7.8%) persons had impaired fasting glucose (FBG 6.1 to <7.0 mm). Prevalence of DM was significantly higher in patients in health facilities serving urban populations (14.0%) than rural populations (10.6%) and higher in hospital patients (13.5%) than those attending TB clinics (8.5%).conclusion This pilot project shows that it is feasible to screen patients with TB for DM in the routine setting, resulting in a high yield of patients with known and newly diagnosed disease. Free blood tests for glucose measurement and integration of TB and DM services may improve the diagnosis and management of dually affected patients.

Knowledge and awareness concerning the harmful effects of sun exposure are widespread among the Chinese population. Sunscreens with high SPF and PA are the most commonly used among Chinese people. Clear sex differences were observed. There is a significant difference in the attitude toward suntan between Chinese and Caucasian populations.

Hydroa vacciniforme-like cutaneous lymphoma is a rare type of Epstein-Barr virus-associated lymphoma. We analyze clinicopathologic features of seven Chinese child patients with hydroa vacciniforme-like cutaneous lymphoma and determine the pathogenic association of Epstein-Barr virus with this disorder. Clinical, histologic, and immunohistochemical features were reviewed. Skin lesions were subjected to Epstein-Barr virus-encoded RNA detection by in situ hybridization. Serologic assay and quantitation of Epstein-Barr virus DNA were performed. All seven patients presented with facial vesicles, papulovesicles, and atrophic scarring. Histologically, skin specimens showed epidermal blister formation, and dense lymphoid infiltration throughout the dermis and subcutaneous tissue. The infiltrate was composed of both small and large irregular lymphocytic cells expressing CD45RO or CD56. Tumor cells positive for Epstein-Barr virus-encoded RNA were detected in cutaneous infiltrates in all seven cases. Besides skin eruptions, all patients had systemic manifestations, such as intermittent fever, hepatosplenomegaly or lymph node enlargement. The amounts of Epstein-Barr virus DNA were increased in the peripheral blood in two detected cases, and antibody titers to Epstein-Barr virus revealed a chronic active Epstein-Barr virus infection in all cases. The diagnosis of hydroa vacciniforme-like cutaneous lymphoma was made. Four of seven patients were treated with interferon α intramuscularly, and the skin eruptions improved. Hydroa vacciniforme-like cutaneous lymphoma may present with severe facial edema, papulovesicular eruptions and permanent scars. The tumor cells often express natural killer- or T-cell markers. The disease is often preceded by chronic active Epstein-Barr virus infection.

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The study demonstrated the capacity of women for proper self-evaluation of their skin type. It also suggests a potential link between nutritional factors such as spicy and/or sweet diets and oily skin as well as between sensitive and oily skin in this population.

A wide range of mucocutaneous disorders were observed in HIV-infected Chinese patients. Oral candidiasis, P. marneffei infection and PPE may be the signs of advanced HIV infection. HAART had an impact on the spectrum of HIV-associated mucocutaneous disorders.

MicroRNAs (miRNAs) were first identified in Caenorhabditis briggsae and later recognized as playing pivotal roles in a vast range of cellular activities. It has been shown that miRNAs are an important mechanism not only for host defense against virus but also for the establishment of viral infection. During human immunodeficiency virus type 1 (HIV-1) infection, host miRNA profiles are altered either as a host response against the virus or alternatively as a mechanism for the virus to facilitate viral replication and infection or to maintain latency. The altered miRNA profiles can be detected and quantified by various advanced assays, and potentially serve as more sensitive, accurate and cost-efficient biomarkers for HIV-1 diagnosis and disease progression than those detected by currently available standard clinical assays. Such new biomarkers are critical for optimizing treatment regimens. In this review, we focus on the potential application of miRNA profiling to the diagnosis of HIV-1 infection and the monitoring of disease progression.