A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome / 医学前沿

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Inhibition of proliferation of adult T-cell leukemia cells by celastrol / 生物工程学报

We studied the effect of celastrol on the proliferation and apoptosis of adult T-cell leukemia (ATL) cells. After treating adult T-cell leukemia cell lines with different concentrations of celastrol, we analyzed the cell proliferation by MTT and colony formation assays. Flow cytometry was conducted to detect cell apoptosis by Annexin V-FITC/PI staining. Western blotting and dual-luciferase reporter assay were done to study the mechanism how celastrol suppressed the growth of adult T-cell leukemia cells. Celastrol could significantly inhibit the proliferation of adult T-cell leukemia cells, and induce apoptosis of ATL cells. With the increase of the concentration of celastrol, the ratio of Bax/Bcl-2 protein was up-regulated. The Caspase-3/7 protein was cleaved and activated after treatment with celastrol. Moreover, the expression of HTLV-1-encoded viral protein Tax was significantly inhibited in the celastrol treated cells. Taken together, these results indicated that celastrol effectively inhibited the proliferation of adult T-cell leukemia cells by regulating the expression of Bcl-2 family protein, and induced cell apoptosis by activating Caspase dependent pathway. In addition, celastrol could inhibit the expression of viral protein Tax. This study will provide an experimental basis for the clinical application of celastrol in the treatment of adult T-cell leukemia.

HTLV-1 bZIP Factor (HBZ): Roles in HTLV-1 Oncogenesis / 病毒学报

Human T-cell leukemia virus type 1 (HTLV-1) is a retrovirus demonstrated to be associated with human disease. Infection by the HTLV-1 can cause T-cell leukemia (ATL) in adults. HTLV-1 bZIP factor (HBZ) is a viral protein encoded by the minus strand of the HTLV-1 provirus. Among the regulatory and accessory genes of HTLV-1, HBZ is the only gene that remains intact and which is expressed consistently in all patients with ATL. Moreover, HBZ has a critical role in the leukemogenesis of ATL. Here, we review the function of HBZ in the oncogenesis of HTLV-1 and its molecular mechanism of action.

The drug resistance situation and clinical distribution of multi-drug resistance Acinetobacter baumannii in a general hospital in 2014 / 国际检验医学杂志

Objective To investigate the drug resistance situation and clinical distribution of multi‐drug resistance Acinetobacter baumannii(MDRAB) ,in order to provide references for clinical treatment and prevention of MDRAB infection .Methods The de‐partments ,types of specimens ,time of infection ,gender and age of patients with Acinetobacter baumannii(AB)infection from Janu‐ary to December 2014 were retrospectively analysed ,and drug resistance rates of MDRAB were analysed as well .Results A total of 123 strains of MDRAB were isolated ,which accounted for 44 .73% of all strains of AB .The antibacterial resistance rates were over 90% for MDRAB against 12 out of 15 common antibacterial agents ,while the antibacterial resistance rate for MDRAB against mi‐nocycline was relatively low(19 .23% ) .Distribution of AB and MDRAB infection concentrated to certain departments ,which shown that intensive care unit(ICU) ,departments of respiratory medicine and neurosurgery were the major departments of infection .The strains of AB and MDRAB isolated from sputum specimens accounted for 84 .00% and 93 .50% respectively .There was no signifi‐cant differences of MDRAB infection among 12 Months in 2014 .There was no statistically significant differences in constituent ratio of MDRAB infection and non‐MDRAB infection between patients in different gender and between patients in different age groups . Conclusion MDRAB strains are seriously resistant to commonly used antibacterial agents ,while minocycline could still be a signifi‐cant antibacterial agent for clinical treatment of MDRAB infection .Strengthening infection management in ICU and departments of respiratory medicine and neurosurgery ,and infection management of respiratory tract and wound could have significance for reduc‐ing the risk of MDRAB infection .

Application of PDCA management in safety management of vein transfusion by indwelling needle / 现代临床护理

Objective To study the effect of the PDCA management on safety management of venous transfusion by indwelling needles?.Method The measures included standardizing nurses manipulation,improving the management system related to venous transfusion,and regulating details management process for tube fixing and dressing and tube maintenance.Results The rates of unstandardized maintenance and obstruction of tubes after the enforcement of details management were significantly lower than those before its enforcement(P<0?05).Conclusions PDCA management is effective for standardizing nursing implementation and ensuring the safety of venous transfusion by indwelling needle?