Pathology最新文献

{"title":"Context inappropriate undressing in a Victorian Coronial cohort","authors":"Kyparisia Karahalios , Hans H. de Boer , Judith Fronczek , Melanie Archer","doi":"10.1016/j.pathol.2024.12.071","DOIUrl":"10.1016/j.pathol.2024.12.071","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S14"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143131423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pleural-based primary thoracic Epstein–Barr virus-associated lymphoepithelial carcinoma","authors":"James A. Rickard , Elena Tarasenko , Jared Mathai , Khashayar Asadi , Sagun Parakh","doi":"10.1016/j.pathol.2024.06.016","DOIUrl":"10.1016/j.pathol.2024.06.016","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 128-131"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CDK4 gene copy number increase and concurrent genetic changes in acral melanoma of a Chinese cohort","authors":"Leyuan Yang ,&nbsp;Yan Liu ,&nbsp;Ruiping Guo ,&nbsp;Juan Du ,&nbsp;Lingchao Liu ,&nbsp;Xiaolong Liu ,&nbsp;Jianfang Zhao ,&nbsp;Fang Shi ,&nbsp;Xin Zhang ,&nbsp;Jing Su","doi":"10.1016/j.pathol.2024.06.012","DOIUrl":"10.1016/j.pathol.2024.06.012","url":null,"abstract":"<div><div>Acral melanoma (AM) is the most common subtype of melanoma in the Asian population. Abnormalities in the p16-cyclin D1-CDK4 signalling pathway play a crucial role in the development and progression of AM. However, the <em>CDK4</em> copy number variations (CNVs) in AM are under-reported. In this study, we investigated <em>CDK4</em> gene copy number and concurrent molecular changes in a Chinese cohort with AM, to explore <em>CDK4</em> CNVs and their significance in AM. We examined <em>CDK4</em> CNVs with fluorescence <em>in situ</em> hybridisation (FISH) in 31 patients with AM. Six patients with <em>CDK4</em> high-level copy number increase were examined by next-generation sequencing to detect concurrent molecular changes. Using FISH, 12 (12/31, 38.7%) cases showed <em>CDK4</em> copy number increase, with six (6/31, 19.4%) low-level copy number increase and six (6/31, 19.4%) high-level copy number increase. Five of six <em>CDK4</em> low-level copy number increase cases were accompanied by polysomy of chromosome 12, while one case was not. Two of six <em>CDK4</em> high-level copy number increase cases were accompanied by polysomy of chromosome 12, while four cases were not. <em>CDK4</em> copy number increase was significantly correlated with younger patient age. In six <em>CDK4</em> high-level copy number increase cases, one case was found to be accompanied by <em>NRAS</em> mutation, one case was accompanied by <em>HER2</em> mutation, one case was accompanied by <em>BCL2L11</em> mutation ​and one case was accompanied by <em>BRAF</em>, <em>HER2</em> and <em>BCL2L11</em> mutations. Our study confirmed the presence of <em>CDK4</em> copy number increase in AM cases. Detecting <em>CDK4</em> copy number increase by FISH can be reliable in the diagnosis of AM. Some <em>CDK4</em> copy number increases are the results of polysomy of chromosome 12. <em>CDK4</em> high-level copy number increase coexists with other pathogenic mutations in AM. <em>CDK4</em> appears to be a promising target for AM treatment and is expected to be combined with other targeted therapies.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 34-39"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic testing following neck compression – a systematic review","authors":"Lyndal Bugeja","doi":"10.1016/j.pathol.2024.12.056","DOIUrl":"10.1016/j.pathol.2024.12.056","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S11"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sexually transmitted infections in sexual assault","authors":"Vanita Parekh","doi":"10.1016/j.pathol.2024.12.063","DOIUrl":"10.1016/j.pathol.2024.12.063","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S12"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143098430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact brain apnoea","authors":"Bernard l'Ons","doi":"10.1016/j.pathol.2024.12.068","DOIUrl":"10.1016/j.pathol.2024.12.068","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S13"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143098433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging treatments for Alzheimer's disease/lecanemab","authors":"Colin Masters","doi":"10.1016/j.pathol.2024.12.036","DOIUrl":"10.1016/j.pathol.2024.12.036","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S8"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case study and literature review: the role of selective venous sampling in the management of challenging primary hyperparathyroidism","authors":"Anila Hashmi","doi":"10.1016/j.pathol.2024.12.031","DOIUrl":"10.1016/j.pathol.2024.12.031","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S7"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic autopsy – path to definitive and candidate diagnoses: insights from 400+ genomic autopsies","authors":"Thuong Ha ,&nbsp;Genomic Autopsy Study Research Network,&nbsp;Christopher Barnett ,&nbsp;Hamish Scott","doi":"10.1016/j.pathol.2024.12.102","DOIUrl":"10.1016/j.pathol.2024.12.102","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S20"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of a customised Sensititre YeastOne plate containing isavuconazole for antifungal susceptibility testing in Singapore","authors":"Wenjie Huang,&nbsp;Geraldine Xue Qin Goh,&nbsp;Mei Gie Tan,&nbsp;Jing Sen Chua,&nbsp;Samantha Hui Wen Tan,&nbsp;Yen Ee Tan","doi":"10.1016/j.pathol.2024.08.005","DOIUrl":"10.1016/j.pathol.2024.08.005","url":null,"abstract":"<div><div>This study evaluated the performance of a customised Sensititre YeastOne (SYO) plate including isavuconazole (YIT) against existing practice (comprising SYO YO10 plate and isavuconazole gradient strip) in order to streamline the workflow for antifungal susceptibility testing in a tertiary hospital in Singapore. A total of 101 (51 yeasts and 50 moulds) clinical isolates were included for analysis. Isolates included in the study were recovered from a variety of body sites and reflected the case mix encountered in daily practice. Antifungal susceptibility testing was performed using three methods: YO10, YIT and gradient diffusion strip (for isavuconazole only). Reproducibility, essential agreement (EA) and categorical agreement (CA) were calculated. When YO10 and YIT plates were compared, the reproducibility was 100% for eight common antifungals. The CA was &gt;97% for all antifungals except for amphotericin B (89.4%), but this was attributed to seven isolates with minimum inhibitory concentrations bordering the wild-type (WT) cut-off. The EA obtained when testing isavuconazole using YIT versus gradient diffusion was 77.2% overall, 90.2% for yeasts and 64% for moulds. In conclusion, the YIT plate is suitable for antifungal susceptibility testing of yeasts in our laboratory. Its use for mould isolates needs to be monitored further.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 100-104"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}