A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes

Osteoporosis is the most common metabolic bone disorder globally and is characterized by skeletal fragility and microarchitectural deterioration.Genetic pleiotropy occurs when a single genetic element is associated with more than one phenotype.We aimed to identify pleiotropic loci associated with bone mineral density(BMD)and nonbone phenotypes in genome-wide association studies.In the discovery stage,the NHGRI-EBI Catalog was searched for genome-wide significant associations(P value<5 x 108),excluding bone-related phenotypes.SNiPA was used to identify proxies of the significantly associated single nucleotide polymorphisms(SNPs)(r2=1).We then assessed putative genetic associations of this set of SNPs with femoral neck(FN)and lumbar spine(LS)BMD data from the GEFOS Consortium.Pleiotropic variants were claimed at a false discovery rate<1.4x 103 for FN-BMD and<1.5 x 10-3 for LS-BMD.Replication of these genetic markers was performed among more than 400000 UK Biobank participants of European ancestry with available genetic and heel bone ultrasound data.In the discovery stage,72 BMD-related pleiotropic SNPs were identified,and 12 SNPs located in 11 loci on 8 chromosomes were replicated in the UK Biobank.These SNPs were associated,in addition to BMD,with 14 different phenotypes.Most pleiotropic associations were exhibited by rs479844(AP5B1,O V O L 1 genes),which was associated with dermatological and allergic diseases,and rs4072037(M U C 1 gene),which was associated with magnesium levels and gastroenterological cancer.In conclusion,12 BMD-related genome-wide significant SNPs showed pleiotropy with nonbone phenotypes.Pleiotropic associations can deepen the genetic understanding of bone-related diseases by identifying shared biological mechanisms with other diseases or traits.

高精度经颅直流电刺激对Y平衡任务下姿势控制表现的即刻影响

本研究以Y平衡任务为目标动作,探究高精度经颅直流电刺激(HD-tDCS)对健康男性姿势控制表现的影响。招募12名健康成年男性,采用随机交叉实验设计。对受试者进行2次tDCS干预(HD-tDCS;假刺激,s-tDCS),每次干预前后进行Y平衡测试,2次干预间隔3~7 d。采集Y平衡任务中的推出距离,压力中心(COP)移动距离及速度。采用重复测量双因素方差分析评估时间(刺激前后)×条件(刺激类型)对各因变量的影响。结果表明:在HD-tDCS干预后,受试者右腿Y平衡任务中前侧方向的推出距离显著增加2.84%;左腿Y平衡任务中后内侧推出时的COP内外移动距离、COP移动轨迹长度分别显著降低了20%和16%;后外侧推出时的COP内外移动距离显著降低了20%;初级运动皮层的高精度经颅直流电刺激能够在一定程度上改善健康男性姿势控制能力。

Assessment of imaging diagnosis ability of skin tumors in Chinese dermatologists

Skin tumors begin from normal skin cells, and some parts of them may transform with the potential to reproduce in an out-of-control manner.[1] Skin tumors are exceedingly common and the incidence is increasing at an alarming rate across the globe.

Diagnostic capacity of skin tumor artificial intelligence-assisted decision-making software in real-world clinical settings

Background:Youzhi artificial intelligence(AI)software is the AI-assisted decision-making system for diagnosing skin tumors.The high diagnostic accuracy of Youzhi AI software was previously validated in specific datasets.The objective of this study was to compare the performance of diagnostic capacity between Youzhi AI software and dermatologists in real-world clinical settings.Methods:A total of 106 patients who underwent skin tumor resection in the Dermatology Department of China-Japan Friendship Hospital from July 2017 to June 2019 and were confirmed as skin tumors by pathological biopsy were selected.Dermoscopy and clinical images of 106 patients were diagnosed by Youzhi AI software and dermatologists at different dermoscopy diagnostic levels.The primary outcome was to compare the diagnostic accuracy of the Youzhi AI software with that of dermatologists and that measured in the laboratory using specific data sets.The secondary results included the sensitivity,specificity,positive predictive value,negative predictive value,F-measure,and Matthews correlation coefficient of Youzhi AI software in the real-world.Results:The diagnostic accuracy of Youzhi AI software in real-world clinical settings was lower than that of the laboratory data(P<0.001).The output result of Youzhi AI software has good stability after several tests.Youzhi AI software diagnosed benign and malignant diseases by recognizing dermoscopic images and diagnosed disease types with higher diagnostic accuracy than by recognizing clinical images(P=0.008,P=0.016,respectively).Compared with dermatologists,Youzhi AI software was more accurate in the diagnosis of skin tumor types through the recognition of dermoscopic images(P=0.01).By evaluating the diagnostic performance of dermatologists under different modes,the diagnostic accuracy of dermatologists in diagnosing disease types by matching dermoscopic and clinical images was significantly higher than that by identifying dermoscopic and clinical images in random sequence(P=0.022).The diagnostic accuracy of dermatologists in the diagnosis of benign and malignant diseases by recognizing dermoscopic images was significantly higher than that by recognizing clinical images(P=0.010).Conclusion:The diagnostic accuracy of Youzhi AI software for skin tumors in real-world clinical settings was not as high as that of using special data sets in the laboratory.However,there was no significant difference between the diagnostic capacity of Youzhi AI software and the average diagnostic capacity of dermatologists.It can provide assistant diagnostic decisions for dermatologists in the current state.

Skin diseases in the Da Qing Diabetes Study:a cross-sectional study

Background:The prevalence of skin diseases and diabetes mellitus(DM)are prominent around the world.The current scope of knowledge regarding the prevalence of skin diseases and comorbidities with type 2 DM(T2DM)is limited,leading to limited recognition of the correlations between skin diseases and T2DM.Methods:We collected 383 subjects from the Da Qing Diabetes Study during the period from July 9th to September 1st,2016.The subjects were categorized into three groups:Normal glucose tolerance(NGT),impaired glucose tolerance(IGT),and T2DM.The prevalence and clinical characteristics of skin diseases were recorded and investigated.Results:In this cross-sectional study,383 individuals with ages ranging from 53 to 89-year-old were recruited.The overall prevalence of skin diseases was 93.5%,and 75.7%of individuals had two or more kinds of skin diseases.Additionally,there were 47 kinds of comorbid skin diseases in patients with T2DM,of which eight kinds of skin diseases had a prevalence>10%.The prevalence of skin diseases in NGT,IGT,and T2DM groups were 93.3%,91.5%,and 96.6%,respectively;stratified analysis by categories showed a statistically significant difference in"disturbances of pigmentation"and"neurological and psychogenic dermatoses".The duration of T2DM also significantly associated with the prevalence of"disturbances of pigmentation"and"neurological and psychogenic dermatoses".Subsequently,the prevalence of"disturbances of pigmentation"was higher in males than females in NGT(P<0.01)and T2DM(P<0.01)groups.In addition,the difference in the prevalence of"disturbances of pigmentation"was also significant in NGT and T2DM groups(P<0.01).Conclusions:There was a high prevalence of skin diseases in the Da Qing Diabetes Study.To address the skin diseases in the Da Qing Diabetes Study,increased awareness and intervention measures should be implemented.