简介:摘要患儿男性,11个月。生后5个月出现发育倒退,随后出现四肢无力和对响声的异常惊吓反应,求医2个月诊断不明,转诊至首都医科大学附属北京儿童医院,发现患儿双眼眼底黄斑樱桃红斑,以此为线索进一步基因分析显示GLB基因出现复合杂合子突变,酶学检查结果显示酸性β-半乳糖苷酶明显低于正常值,确诊GM1型神经节苷脂沉积症。
简介:[摘要] 胃癌是最常见的恶性肿瘤之一,死亡率高,严重危害着人民的生命健康。针对肿瘤免疫检查点的程序性死亡受体(Programmed cell death-1, PD-1)及程序性死亡受体配体1(Programmed death ligand-1, PDL-1)的免疫逃逸机制是目前肿瘤研究的重大突破。本文现将目前的研究结果进行整合,以方便研究人员。
简介:AbstractBackground:PD-1 and PD-L1 inhibitors have emerged as promising treatments for patients with head and neck squamous cell carcinoma (HNSCC).Methods:Systematic review and meta-analysis of PD-1 and PD-L1 inhibitors in HNSCC. Outcomes: median overall survival (mOS), median progression-free survival (mPFS), Response Evaluation Criteria in Solid Tumors (RECIST) and treatment-related adverse events (TRAEs).Results:Eleven trials reported data on 1088 patients (mean age: 59.9 years, range: 18-90). The total mOS was 7.97 months (range: 6.0-16.5). Mean mPFS for all studies was 2.84 months (range: 1.9-6.5). PD-1 inhibitors had a lower rate of RECIST Progressive Disease than PD-L1 inhibitors (42.61%, 95% confidence interval [CI]: 36.29-49.06 vs. 56.79%, 95% CI: 49.18-64.19, P < 0.001). The rate of TRAEs of any grade (62.7%, 95% CI: 59.8-65.6) did not differ.Conclusions:Meta-analysis shows the efficacy of PD-1 and PD-L1 inhibitors in HNSCC and suggests a possible difference in certain RECIST criterion between PD-1 and PD-L1 inhibitors. Future work to investigate the clinical significance of these findings is warranted.
简介:摘要目的探讨恶性胸膜间皮瘤(MPM)组织的Ⅰ型胶原蛋白α1链(COL1A1)和Ⅰ型胶原蛋白α2链(COL1A2)基因的表达水平及临床意义。方法于2020年1月,收集26例MPM患者的MPM组织及相邻的正常胸膜组织,采用定量反转录PCR测定组织中COL1A1和COL1A2基因表达水平,并采用受试者工作特征(ROC)曲线评估两者诊断MPM的效能。通过肿瘤基因组图谱(TCGA)数据库分析COL1A1和COL1A2基因表达与临床病理特征的关系,采用基因表达谱动态分析两者表达水平与MPM患者总生存率(OS)和无疾病进展生存率(DFS)的关系,通过Cox比例风险回归模型探讨影响MPM患者预后的因素。采用TIMER 2.0平台探讨COL1A1和COL1A2基因在MPM中的表达与肿瘤免疫浸润性细胞的关系。结果与正常胸膜组织比较,MPM组织中COL1A1和COL1A2基因表达量明显增加(P<0.01),且两者表达呈正相关(P<0.001);ROC曲线显示,COL1A1和COL1A2表达水平诊断MPM的曲线下面积分别为0.900和0.897。COL1A1基因表达量与MPM患者肿瘤类型有关(P<0.05),COL1A2基因表达量与MPM患者T分期有关(P<0.05)。COL1A1和COL1A2基因表达量与MPM患者OS均有关联(Logrank P<0.05),与DFS的关联均无统计学意义(Logrank P>0.05)。Cox多因素分析结果显示,COL1A1和COL1A2基因高表达及双相混合型MPM患者的死亡风险较高(P<0.05)。TIMER 2.0平台分析结果显示,COL1A1和COL1A2基因在MPM中的表达与巨噬细胞均呈正相关,COL1A2基因在MPM中的表达与中性粒细胞呈负相关(P<0.05)。结论COL1A1和COL1A2基因在MPM组织中高表达,对MPM的诊断、病情预测和预后评估有一定的价值,两者可能共同促进了MPM的发生发展。
简介:摘要本文报道1例妊娠合并强直性肌营养不良(myotonic dystrophy,DM)1型患者的诊治经过。患者早孕期因偶发心前区钝痛伴盗汗查心肌酶轻度升高,口服药物改善症状后未规律复查。晚孕期出现心肌酶、肝酶及尿蛋白明显异常,心脏、腹部超声提示心脏、脾脏等多发器质性病变。孕36周+5因心力衰竭行剖宫产术,新生儿女,Apgar评分1、5 min均为10分。患者术后出现急性呼吸衰竭、室性二联律及腹泻等症状。神经内科会诊发现双眼埋睫不全、鼓腮力弱和上肢末端肌力减弱。肌肉活检证实DM,基因检测示染色体19q13.3肌营养不良蛋白激酶基因非编码区[CTG]n异常扩增而诊断DM1型。产后随访9个月身体恢复尚可,建议进一步行家系及子代的遗传学分析。
简介:AbstractBackground:Intracerebral hemorrhage (ICH) is fatal and detrimental to quality of life. Clinically, options for monitoring are often limited, potentially missing subtle neurological changes. Integrin β 1 (ITGB1) and β 3 (ITGB3) are the main components of integrin family receptors, which regulate the formation and stability of blood vessels. This study explored the relationship between the expression of ITGB1 and ITGB3 in intracerebral hemorrhage (ICH) to analyze their functional and clinical relevance.Methods:The expression of ITGB1 and ITGB3 in ICH was accomplished by immunohistochemical (IHC) staining and western blotting (WB) analysis, respectively.Results:Furthermore, the results demonstrated that ITGB1 was expressed in ICH tissues, but ITGB3 was not expressed in ICH tissues.Conclusions:In summary, the clinical progression of ICH was related to the expression of ITGB1. ITGB1 may be a potential biomarker and contribute to the treatment of ICH.
简介:摘要程序性细胞死亡蛋白1(PD-1)的单克隆抗体可以阻断PD-1与其配体之间的相互作用,恢复T细胞的抗肿瘤作用。PD-1抑制剂已被广泛批准用于治疗各种恶性肿瘤。有大量文献报道了信迪利单抗有令人满意的抗肿瘤作用,同时也报道出一些相关不良反应。由PD-1抑制剂引起的急性自身免疫性胰岛素依赖型糖尿病在儿童中非常罕见。现报道广东药科大学附属第一医院2021年11月收治的1例应用PD-1抗体后出现高血糖症儿童。