Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death of nerve cells. Mutations in the APP gene, which encodes an amyloid precursor protein, is the strongest genetic risk factor for sporadic AD. METHODS AND RESULTS: We studied the APP gene (NM_000484.3: c.2045A > T; p.E682V) variants carried by members of a family suffering from AD using whole-exome sequencing and Sanger sequencing. CONCLUSION: In this study, we identified a new variant of the APP gene (NM_000484.3: c.2045A > T; p.E682V) in members of a family with AD. This provides potential targets for subsequent studies and information that can be used in genetic counselling.

An analysis of the effect of artificial lengthening femoral head replacement in elderly patients with stage Ⅰ of unstable femoral intertrochanteric fracture / 中国基层医药

Objective To analyze of the effect of artificial lengthening femoral head replacement in elderly patients with stage Ⅰ of unstable femoral intertrochanteric fracture.Methods 203 patients with stage Ⅰ of unstable femoral intertrochanteric fracture were selected as the research object,and they were taken artificial lengthening femoral head replacement,among which 65caese were male,female in 138 cases.The Harris scoring,SF-36,VAS pain scores on admission,2 weeks after operation,postoperative follow-up limb were counted,and the pain of the affected limb and the hip scores were compared amond 3 time periods.Results All 203 cases of senile patients with follow-up,average operation time was 83.64 minutes,the intraoperative blood loss was 355.41mL.The curative effect was evaluated according to the Harris score,SF-36 and VAS pain scoring criteria,and the Harris scores of the affected limbs at admission,at 2 weeks after the operation and after the follow-up were (28.26 ± 5.50) points,(68.26 ±5.50) points,(93.13 ± 5.31) points,respectively,the differences were statistically significant (t =-71.27,-1 397.55,-46.07,all P ＜ 0.01);The VAS pain scores were (8.19 ± 0.48) points,(3.53 ± 0.71) points,(0.23 ± 0.42) points,respectively,the differences were statistically significant (t =88.06,324.17,60.84,all P ＜ 0.01).The sf-36 scores:physiological [(8.35 ± 1.24) points,(15.23 ± 2.17) points,(19.21 ± 2.12) points],social/family [(7.01 ±1.13) points,(14.12 ± 2.12) points,(19.85 ± 2.24) points],emotional [(4.83 ± 1.01) points,(10.12 ±1.22)points,(14.87 ± 1.32) points],function [(6.35 ± 1.21) points,(13.67 ± 1.87) points,(16.81 ±2.12) points],additional focus [(8.85 ± 1.45) points,(16.38 ± 2.12) points,(20.21 ± 2.42) points],total quality of life [(47.35 ± 4.76) points,(74.69 ± 5.87) points,(89.21 ± 6.12) points],the differences were statistically significant(-39.77,-62.92,-20.21,-44.87,-71.89,-26.79,-45.04,-89.01,-38.25,-45.79,-63.41,-15.29,-45.20,-60.39,-17.54,-52.12,-76.49,-22.58,all P＜0.O1).Conclusion Artificial lengthening femoral head replacement in elderly patients with stage Ⅰ of unstable femoral intertrochanteric fracture has good clinical effect,intraoperative high safety,less postoperative complications,postoperative limb functional recovery is good,and it is worthy of clinical promotion and application.

Progress in genetic research on pachydermoperiostosis / 中华医学遗传学杂志

Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.

Antibacterial mechanism and safety of zinc oxide / 中国组织工程研究

BACKGROUND:Zinc oxide has shown extraordinary antibacterial effect. But the antibacterial mechanisms of zinc oxide have not been wel developed, and the safety of zinc oxide has not yet been confirmed. OBJECTIVE:To summarize the antibacterial mechanism and safety of zinc oxide based on the current research situation of zinc oxide. METHODS:The CNKI database and PubMed database (2005-01/2013-08) were used to search the related articles about zinc oxide antibacterial mechanism and safety. The retrieval keywords were“zinc oxide or ZnO, antibacterial”,“zinc oxide or ZnO, safety”both in English and Chinese. RESULTS AND CONCLUSTION:The antibacterial mechanism of zinc oxide is complex. Zinc oxide reveals its antibacterial power by photo catalysis, zinc ion dissolve out, and active oxygen. But the relationship between photo catalysis and active oxygen is different based on different studies. The safety of zinc oxide is not confirmed, and different studies have different results. Especial y for the nano-zinc oxide, some studies have showed that the zinc oxide is toxic. Al of these mean much more researches are needed to verify the safety of zinc oxide.