Proteomic genotyping of fingermark donors with genetically variant peptides

Proteomic genotyping detects single amino acid polymorphisms to infer the genotype of corresponding non-synonymous SNPs. Like any DNA genotype, these inferences can be used to estimate random match probability. Fingermarks are a common source of biological evidence that is sample limited and a highly variable source of identifying DNA. Genetically variant peptides from fingermarks, that contain single amino acid polymorphisms, are an additional source of identifying genetic information. To discover these peptide biomarkers epidermal corneocytes from 9 subjects were isolated, processed, digested with trypsin and applied to mass spectrometry. The resulting proteomic and matching exome datasets were used to discover, characterize and validate 60 genetically variant peptides. An average of 28.8 ± 4.4 genetically variant peptides were detected from each subject resulting in a total of 264 SNP allele inferences with 260 true and 4 false positives, a false discovery rate of 1.5%. Random match probabilities were estimated using the genotype frequencies from the matching major populations in the 1000 Genomes Project. Estimates ranged up to a value of 1 in 1.7 × 10⁸, with a median probability of 1 in 2.4 × 10⁶. Furthermore, the proteomically-inferred genotypes are likely to be compatible with the STR-based random match probability estimates since the closest STR locus was 2.2 Mb from the nearest GVP-inferred SNP. This project represents a novel mode of genetic information that can be obtained from fingermarks and has the potential to complement other methods of human identification including analysis of ridge patterns or touch DNA.     

加拿大问题赌博指数中文版的效度和信度

目的:评估加拿大问题赌博指数中文版(CPGI-C)的效度和信度。方法:选取43例匿名戒赌会成员和202例正常成人为研究对象,将其随机分为两半,分别进行探索性因子分析和验证性因子分析;以赌博相关认知量表(GRCS-C)、Barratt冲动性人格问卷(BIS-11)、抑郁自评量表(SDS)、网络成瘾量表修订版(CIAS-R)和DSM-IV多重反应问卷(DSM-IV-MR)作为效标工具;以受试者工作特征曲线(ROC)评估量表区分问题赌博者的特异度与灵敏度。2周后有5例匿名戒赌会成员和31例正常成人完成重测。结果:CPGI-C的问题赌博指数(PGSI)分量表共9个条目,探索性因子分析得出1个主成分因子,可解释总方差的74.3%;验证性因子分析显示,单因子结构模型的拟合指标良好(χ~2=2.087,CFI=0.926,TLI=0.963,GFI=0.926,IFI=0.978,NFI=0.958, RMSEA=0.094,SRMR=0.032);CPGI总分与各效标量表的总分均呈正相关(r=0.48～0.82,均P<0.001);ROC曲线下面积为0.962,划界分为9.5。CPGI-C的...     

一位自杀博主遗言评论留言的主题分析

目的:描述社交媒体中负向情绪的表达,探讨其与浏览者自杀风险的关系。方法:选取抑郁症自杀者"走饭"遗言微博下的10582条留言,利用NVivo11 Pro软件,由1名资深社会工作者对留言进行理解,建立树状节点,根据留言所含情绪进行留言的编码分类,经由另1名社工进行复查,产生分歧的留言由心理咨询师进行裁定。利用N11软件词频分析功能,统计留言中高频出现的词语及其频率。结果:微博留言者中表述自己患有抑郁症者占9%;表达自杀意念者占14%;负向表达留言占77%。词频统计发现"想死"、"杀"、"死了"、"离开"、"自杀"为高频的自杀相关关键词。结论:高自杀风险者聚集在该微博留言区,大量表达负性情绪,可能通过情绪传染对浏览者自杀风险产生影响。     

Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies

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精神分裂症患者及其一级亲属静息态脑功能网络的小世界属性研究

目的:探讨精神分裂症患者及其一级亲属静息态脑功能网络小世界属性特征的异同。方法:对符合DSM-IV诊断标准的33例精神分裂症患者、30例未患病一级亲属和34例健康对照进行静息态脑功能扫描,利用AAL模板将大脑划分为116个脑区并进行网络构建,比较三组被试的网络属性特征。结果:三组静息态脑功能网络均具有小世界属性,但患者组部分脑区节点属性(节点度和节点局部效率)显著异常(p<0.05, Bonferroni校正),主要位于右颞上回、左眶额皮质、左后扣带回和右小脑下叶;亲属组左后扣带回的节点度显著增加。结论:精神分裂症患者和一级亲属都存在左后扣带回节点属性异常,提示左后扣带回功能异常可能是精神分裂症的早期改变且受遗传易感性影响。     

Artificial intelligence-assisted psychosis risk screening in adolescents: Practices and challenges

Artificial intelligence-based technologies are gradually being applied to psych-iatric research and practice. This paper reviews the primary literature concerning artificial intelligence-assisted psychosis risk screening in adolescents. In terms of the practice of psychosis risk screening, the application of two artificial intelligence-assisted screening methods, chatbot and large-scale social media data analysis, is summarized in detail. Regarding the challenges of psychiatric risk screening, ethical issues constitute the first challenge of psychiatric risk screening through artificial intelligence, which must comply with the four biomedical ethical principles of respect for autonomy, nonmaleficence, beneficence and impartiality such that the development of artificial intelligence can meet the moral and ethical requirements of human beings. By reviewing the pertinent literature concerning current artificial intelligence-assisted adolescent psychosis risk screens, we propose that assuming they meet ethical requirements, there are three directions worth considering in the future development of artificial intelligence-assisted psychosis risk screening in adolescents as follows: nonperceptual real-time artificial intelligence-assisted screening, further reducing the cost of artificial intelligence-assisted screening, and improving the ease of use of artificial intelligence-assisted screening techniques and tools.     

Health shocks and risk aversion

We empirically assess whether a health shock influences individual risk aversion. We use grip strength data to obtain an objective health shock indicator. In order to account for the non-random nature of our data regression-adjusted matching is employed. Risk preferences are traditionally assumed to be constant. However, we find that a health shock increases individual risk aversion. The finding is robust to a series of sensitivity analyses and persists for at least four years after the shock. Income changes do not seem to be the driving mechanism.     

McCune–Albright syndrome,natural history and multidisciplinary management in a series of 14 pediatric cases

BackgroundMcCune–Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life.MethodsA series of 14 pediatric cases were followed between 1994 and 2013 by the competence center for rare endocrine diseases and constitutional bone diseases at CHU de Nancy (France). The diagnosis is based on the presence of at least two symptoms.ResultsThe mean follow-up was 6 years (1–17 years). The sex ratio was six girls per boy. The incidence was 0.28 cases/million population/year. Mean age at diagnosis was 6 years. A mutation in the GNAS gene was found in 33% of patients tested. Gonadal involvement (13/14 cases), including early peripheral puberty and ovarian cysts in girls (82%) occurred on average at 4 years of age. Bone involvement (10/14 cases) appeared on average at 5 years of age and was most often multiple (80%) with fracture risk, and the skull, with a neurosensory risk.ConclusionClinical definition and methods of screening and monitoring can be improved to allow for an earlier intervention. It must be multidisciplinary and take into account the disability and quality of life of the patient.