女性致密性骨炎血清骨转换生化标志物水平变化研究

背景 致密性骨炎（OCI）和其他疾病有时难以鉴别，探讨血清骨转换生化标志物可为OCI的鉴别诊断提供依据。 目的 探索女性OCI患者的血清骨转换生化标志物的水平变化及临床意义。 方法 回顾性选取2013年6月至2022年2月在北京积水潭医院门诊及住院诊断为OCI的61例女性患者作为观察组，年龄15~50岁，平均（33.8±6.6）岁，病程2周~15年。选择同期61例女性体检健康者作为对照组，年龄15~48岁，平均（35.6±7.6）岁。比较两组一般临床资料和血清骨转换生化标志物水平，并对血清骨转换生化标志物与病情相关指标进行相关性分析。 结果 观察组血清白蛋白（45.4±2.9）g/L低于对照组（46.5±2.8）g/L（t=2.190，P<0.05）。血清骨转换生化标志物比较结果显示，观察组血清1型胶原羧基末端肽β特殊序列（β-CTX）〔0.28（0.23，0.37）μg/L〕、N-端骨钙素（OC）〔13.1（11.2，16.2）μg/L〕、25-羟维生素D3〔25-（OH）VD3〕〔（14.1±5.1）μg/L〕低于对照组〔0.36（0.29，0.48）μg/L，15.6（13.7，17.3）μg/L，（17.5±6.6）μg/L〕（Z=-2.983、-3.255，t=3.081，P<0.05）。长病程亚组OC水平〔14.6（12.4，18.5）μg/L〕高于短病程亚组〔11.7（10.2，14.0）μg/L〕（Z=-2.407，P<0.05）。多孕亚组β-CTX〔0.25（0.22，0.32）μg/L〕、OC水平〔12.2（10.3，15.0）μg/L〕低于非多孕亚组〔0.33（0.26，0.44）μg/L、13.4（12.0，18.8）μg/L〕（Z=-2.486、-1.897，P<0.05）。相关性分析显示，观察组血清1型前胶原氨基端延长肽（tP1NP）与妊娠次数、生产次数均呈负相关（rs=-0.276、-0.298，P<0.05），OC与体质指数（BMI）、视觉模拟评分法（VAS）评分、妊娠次数均呈负相关（rs=-0.284、-0.374、-0.360，P<0.05），25-（OH）VD3水平与BMI呈正相关（rs=0.275，P<0.05）。 结论 女性OCI患者血清OC、β-CTX水平明显降低，可为鉴别其他疾病提供依据；血清OC水平可以反映OCI患者的严重程度，同时OC水平与患者妊娠次数相关；tP1NP与妊娠次数、生产次数相关。     

Inter-rater Accuracy and Reliability of a Palpation Protocol of the C7 Spinous Process Comprising a Combination of 3 Traditional Palpation Techniques

ObjectiveThe purpose of this study was to determine the accuracy and intrarater reliability of a palpatory protocol based on a combination of 3 palpatory methods to identify both the C7 spinous process (C7 SP) and the factors that affect the errors and inaccuracy of palpation.MethodsTwenty-five women between the ages of 18 and 60 years were submitted to a palpation protocol of the C7 SP, and a radiopaque marker was fixed on the skin at the possible location of the vertebrae. A radiograph and a photograph of the cervical spine were obtained in the same posture by a first rater. A second rater performed the same palpation protocol and took a second photograph. The accuracy and measurement error of the palpation protocol of C7 SP were assessed through radiographic images. The inter-rater reliability was estimated by the interclass correlation coefficient and assessed using photographs of each rater. The Pearson's correlation coefficients (r), the Fisher exact test, and the χ² test were used to identify the factors associated with the error and inaccuracy of palpation.ResultsAccuracy of the C7 palpation was 76% with excellent reliability (interclass correlation coefficient = 0.99). There was a moderate correlation between weight and the measurement of palpation error (r = –0.6; P = .003). One hundred percent of inaccuracy palpation was related to the increased soft-tissue thickness (P = .005) in the cervical region.ConclusionThe palpation protocol described in this study was accurate and presented excellent reliability in identifying the C7 SP. Increased weight and dorsocervical fat pad were associated to error and palpation inaccuracy, respectively.     

Useful histopathologic features for diagnosing focal liver lesions with spindle cell morphology: A clinicopathologic study

BackgroundFocal liver lesions with spindle cell morphology are rare in the daily practice of pathology. The differential diagnosis is broad, including both tumors and tumor-like lesions. Initial radiologic assessment is sometimes inaccurate. Histopathology is needed to arrive at the correct diagnosis. This study analyzed discrepancies between histopathology and radiologic findings of focal liver lesions with spindle cell morphology.MethodsA six-year retrospective analysis was conducted at a tertiary hospital in Thailand. All focal liver lesions with spindle cell morphology were retrieved. Clinicopathologic features of these cases were analyzed. The pathological diagnosis was rendered primarily based on routine histopathology, using other ancillary studies as an adjunct.Results287 biopsies and 151 resection specimens with focal liver lesions were identified. In 12 (2.7%) cases, tumors or tumor-like lesions with spindle cell morphology were retrieved. A total of five cases had discrepancies between histopathology and radiologic findings. These lesions encompassed primary liver tumors (EBV-associated smooth muscle tumor and leiomyosarcoma); metastatic tumors (gastrointestinal stromal tumor, small cell neuroendocrine carcinoma); and a tumor-like lesion (endometriosis). Several morphologic findings (i.e., cytologic grades, dense and loose areas, intratumoral lymphocytes, distinct perinuclear vacuoles, and hemosiderin) are important clues to diagnose these spindle cell lesions.ConclusionsPathologists play a critical role in diagnosing focal liver lesions with spindle cell morphology, particularly those with limited clinical data at the initial presentation. A thorough evaluation of histomorphology on routine hematoxylin and eosin-stained slides is essential for correct diagnosis.     

基于CiteSpace的结直肠癌患者生命质量研究

目的：通过中英文文献了解结直肠癌患者生命质量研究现状及发展趋势。方法：运用CiteSpace对中国知网（CNKI）、万方数据知识服务平台、中国生物医学文献数据库、Web of Science核心数据集、PubMed、Cochrane Library中收录的关于结直肠癌患者生命质量研究的中英文文献进行可视化分析。结果：检索得到中文文献1 285篇，英文文献871篇，中英文文献发文量均呈上升趋势，相关研究关注的重点主要是结直肠癌患者造口、抑郁、免疫、肠道功能、化疗及化疗药物，但机构之间、学者之间合作程度及研究类型等方面存在一定差异。结论：中文文献相关研究起步晚、发展快，但在研究质量与研究深度等方面与英文文献相比还有一定差距；国内学者之间、机构之间应加强合作，关心患者肠道功能、心理状况，提高患者体力活动水平，开展更多高质量研究。     

Challenges and limitation of MTAP immunohistochemistry in diagnosing desmoplastic mesothelioma/sarcomatoid pleural mesothelioma with desmoplastic features

AimGenomic-based ancillary assays including immunohistochemistry (IHC) for BRCA-1 associated protein-1 (BAP1) and methylthioadenosine phosphorylase (MTAP), and fluorescence in situ hybridization (FISH) for CDKN2A are effective for differentiating pleural mesothelioma (PM) from reactive mesothelial proliferations. We previously reported a combination of MTAP and BAP1 IHC effectively distinguishes sarcomatoid PM from fibrous pleuritis (FP). Nevertheless, cases of sarcomatoid PM with desmoplastic features (desmoPM) are encountered where the IHC assessment is unclear.Methods and resultsWe evaluated assessment of MTAP IHC, BAP1 IHC, and CDKN2A FISH in 20 desmoPM compared to 24 FP. MTAP and BAP1 IHC could not be assessed in 11 (55 %) and 10 (50 %) cases, respectively, due to loss or faint immunoreactivity of internal positive control cells, while CDKN2A FISH could be evaluated in all cases. The sensitivities for MTAP loss, BAP1 loss, and CDKN2A homozygous deletion in desmoPM were 40 %, 10 %, and 100 %. A combination of MTAP loss and BAP1 loss yielded 45 % of sensitivity.ConclusionsMTAP IHC is a useful surrogate diagnostic marker in differentiating ordinary sarcomatoid PM from FP, but its effectiveness is limited in desmoPM. CDKN2A FISH is the most effective diagnostic assays with 100 % sensitivity and specificity in discriminating desmoPM from FP in the facilities where the FISH assay is available.     

脊髓小脑共济失调2型家系ATXN2基因中间重复病例表型与分子遗传学特征

目的探讨脊髓小脑共济失调2型(SCA2)致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1383个常染色体显性遗传共济失调家系的先证者和部分家系成员,采用荧光标记毛细管电泳片段分析方法进行动态突变检测,对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系(包含先证者和家系成员共203人)携带异常扩展的ATXN2基因CAG重复序列,其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中,父系遗传16个,异常等位基因的代间扩展增加0~28次,母系遗传4个,异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者,需对其亲代或成年子代个体进行ATXN2基因检测,以免漏诊。动态突变基因检测有助于识别中间重复的个体,对明确家系致病基因和遗传咨询至关重要。