Journal of psychiatry and brain science最新文献_第8页

Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms. 精神分裂症的内表型:深入挖掘鉴定遗传机制。

Journal of psychiatry and brain science Pub Date : 2019-01-01 Epub Date: 2019-03-13 DOI: 10.20900/jpbs.20190005

Tiffany A Greenwood, Andrew Shutes-David, Debby W Tsuang

{"title":"Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms.","authors":"Tiffany A Greenwood, Andrew Shutes-David, Debby W Tsuang","doi":"10.20900/jpbs.20190005","DOIUrl":"https://doi.org/10.20900/jpbs.20190005","url":null,"abstract":"Schizophrenia (SZ) is a severe psychotic disorder that is highly heritable and common in the general population. The genetic heterogeneity of SZ is substantial, with contributions from common, rare, and de novo variants, in addition to environmental factors. Large genome-wide association studies have detected many variants that are associated with SZ, yet the pathways by which these variants influence risk remain largely unknown. SZ is also clinically heterogeneous, with patients exhibiting a broad range of deficits and symptom severity that vary over the course of illness and treatment, which has complicated efforts to identify risk variants. However, the underlying brain dysfunction forms a more stable trait marker that quantitative neurocognitive and neurophysiological endophenotypes may be able to objectively measure. These endophenotypes are less likely to be heterogeneous than the disorder and provide a neurobiological context to detect risk variants and underlying pathways among genes associated with SZ diagnosis. Furthermore, many endophenotypes are translational into animal model systems, allowing for direct evaluation of the neural circuit dysfunctions and neurobiological substrates. We review a selection of the most promising SZ endophenotypes, including prepulse inhibition, mismatch negativity, oculomotor antisaccade, letter-number sequencing, and continuous performance tests. We also highlight recent findings from large consortia that suggest the potential role of genes, particularly in the neuregulin and glutamate pathways, in several of these endophenotypes. Although endophenotypes require additional time and effort to assess, the insight into the underlying neurobiology that they provide may ultimately reveal the underlying genetic architecture for SZ and suggest novel treatment targets.","PeriodicalId":73912,"journal":{"name":"Journal of psychiatry and brain science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.20900/jpbs.20190005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37367534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 27

Grant Report on PREDICT-ADFTD: Multimodal Imaging Prediction of AD/FTD and Differential Diagnosis. PREDICT-ADFTD的资助报告：AD/FTD的多模式成像预测和鉴别诊断

Journal of psychiatry and brain science Pub Date : 2019-01-01 Epub Date: 2019-10-30 DOI: 10.20900/jpbs.20190017

Lei Wang, Ashley Heywood, Jane Stocks, Jinhyeong Bae, Da Ma, Karteek Popuri, Arthur W Toga, Kejal Kantarci, Laurent Younes, Ian R Mackenzie, Fengqing Zhang, Mirza Faisal Beg, Howard Rosen

{"title":"Grant Report on PREDICT-ADFTD: Multimodal Imaging Prediction of AD/FTD and Differential Diagnosis.","authors":"Lei Wang, Ashley Heywood, Jane Stocks, Jinhyeong Bae, Da Ma, Karteek Popuri, Arthur W Toga, Kejal Kantarci, Laurent Younes, Ian R Mackenzie, Fengqing Zhang, Mirza Faisal Beg, Howard Rosen","doi":"10.20900/jpbs.20190017","DOIUrl":"10.20900/jpbs.20190017","url":null,"abstract":"We report on the ongoing project \"PREDICT-ADFTD: Multimodal Imaging Prediction of AD/FTD and Differential Diagnosis\" describing completed and future work supported by this grant. This project is a multi-site, multi-study collaboration effort with research spanning seven sites across the US and Canada. The overall goal of the project is to study neurodegeneration within Alzheimer's Disease, Frontotemporal Dementia, and related neurodegenerative disorders, using a variety of brain imaging and computational techniques to develop methods for the early and accurate prediction of disease and its course. The overarching goal of the project is to develop the earliest and most accurate biomarker that can differentiate clinical diagnoses to inform clinical trials and patient care. In its third year, this project has already completed several projects to achieve this goal, focusing on (1) structural MRI (2) machine learning and (3) FDG-PET and multimodal imaging. Studies utilizing structural MRI have identified key features of underlying pathology by studying hippocampal deformation that is unique to clinical diagnosis and also post-mortem confirmed neuropathology. Several machine learning experiments have shown high classification accuracy in the prediction of disease based on Convolutional Neural Networks utilizing MRI images as input. In addition, we have also achieved high accuracy in predicting conversion to DAT up to five years in the future. Further, we evaluated multimodal models that combine structural and FDG-PET imaging, in order to compare the predictive power of multimodal to unimodal models. Studies utilizing FDG-PET have shown significant predictive ability in the prediction and progression of disease.","PeriodicalId":73912,"journal":{"name":"Journal of psychiatry and brain science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47215936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Childhood Affective Indicators of Risk for Adulthood Psychopathology: The New York High-Risk Project Findings. 儿童期情感指标对成年期精神病理学的风险：纽约高风险项目研究结果。

Journal of psychiatry and brain science Pub Date : 2018-01-01 Epub Date: 2018-06-05 DOI: 10.20900/jpbs.20180004

Diane C Gooding, Carolyn Zahn-Waxler, Sharee N Light, Clarice J Kestenbaum, L Erlenmeyer-Kimling

{"title":"Childhood Affective Indicators of Risk for Adulthood Psychopathology: The New York High-Risk Project Findings.","authors":"Diane C Gooding, Carolyn Zahn-Waxler, Sharee N Light, Clarice J Kestenbaum, L Erlenmeyer-Kimling","doi":"10.20900/jpbs.20180004","DOIUrl":"10.20900/jpbs.20180004","url":null,"abstract":"There are relatively few investigations of the emotion expressivity of children at risk for the later development of schizophrenia and schizophrenia-spectrum disorders. Using data from the New York High-Risk Project, we compared children's emotional expressivity during a semi-structured videotaped interview. Data were coded for 173 child subjects: 61 with schizophrenic parents (HRSz); 54 with affectively ill parents (HRAff); and 58 with psychiatrically \"normal\" parents (NC). A child's affective responses were rated for the presence of discrete positive, negative, or neutral emotions by coders naive to group membership. Responses were also rated for anxiety, flat affect, inappropriate affect, and emotional withdrawal/disengagement. Compared with the two other two groups, HRSz children displayed significantly more negative affect in response to questions regarding their most negative experiences and, when questioned about their self-concept, they displayed significantly less positive affect. Both HRSz and HRAff children showed more inappropriate affect than NC children. Significantly more HRSz children were rated as demonstrating a lack of emotional engagement. Children making inappropriate displays of positive affect while discussing a negative topic were most likely to manifest a psychiatric disorder as an adult. These findings suggest that inappropriate affect may be a nonspecific indicator of risk for psychopathology. Emotional withdrawal in childhood may be a potential indicator of risk for schizophrenia.","PeriodicalId":73912,"journal":{"name":"Journal of psychiatry and brain science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36892069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Evidence for the Association between Schizophrenia and Breast Cancer. 精神分裂症与癌症相关性的遗传学证据。

Journal of psychiatry and brain science Pub Date : 2018-01-01 Epub Date: 2018-08-08 DOI: 10.20900/jpbs.20180007

Jiajun Shi, Lang Wu, Wei Zheng, Wanqing Wen, Shuyang Wang, Xiang Shu, Jirong Long, Chen-Yang Shen, Pei-Ei Wu, Emmanouil Saloustros, Jenny Chang-Claude, Hermann Brenner, Xiao-Ou Shu, Qiuyin Cai

{"title":"Genetic Evidence for the Association between Schizophrenia and Breast Cancer.","authors":"Jiajun Shi, Lang Wu, Wei Zheng, Wanqing Wen, Shuyang Wang, Xiang Shu, Jirong Long, Chen-Yang Shen, Pei-Ei Wu, Emmanouil Saloustros, Jenny Chang-Claude, Hermann Brenner, Xiao-Ou Shu, Qiuyin Cai","doi":"10.20900/jpbs.20180007","DOIUrl":"10.20900/jpbs.20180007","url":null,"abstract":"Objective: To estimate the potential effect of schizophrenia on breast cancer risk in women, we performed a two-sample Mendelian randomization (MR) study.Methods: The instrumental variables comprised 170 uncorrelated and non-pleiotropic single nucleotide polymorphisms (SNPs) that are significantly associated with schizophrenia risk in genome-wide association studies in 105,000 European descent individuals of the Psychiatric Genomics Consortium (http://www.med.unc.edu/pgc/) and the United Kingdom Clozapine Clinic. The association between these SNPs determined schizophrenia and breast cancer risk was estimated in approximately 229,000 European descent females from the Breast Cancer Association Consortium using the inverse-variance weighted and the weighted median MR methods.Results: We found that the genetically-predicted risk of schizophrenia was associated with increased breast cancer risk (under a random-effects model: odds ratio per 1 unit increase in log odds of schizophrenia = 1.04, 95% confidence interval: 1.02-1.06, p = 5.6 × 10-5). Similar significant associations were observed in analyses using a weighted median model and sensitivity analysis excluding six SNPs with genotype imputation score of less than 0.8, as well as analyses stratified by estrogen receptor status of breast cancer.Conclusion: Our findings implicate a modest increased risk for breast cancer in genetically determined schizophrenic females.","PeriodicalId":73912,"journal":{"name":"Journal of psychiatry and brain science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37042128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Acknowledgement to Reviewers of Journal of Psychiatry and Brain Science in 2021 感谢《精神病学与脑科学杂志》2021年审稿人

Journal of psychiatry and brain science Pub Date : 1900-01-01 DOI: 10.20900/jpbs.20210023

引用次数: 0