量化评分鉴别诊断甲状腺结节良恶性的价值

目的：探讨量化评分鉴别诊断甲状腺结节良恶性的价值。方法回顾性分析2011年1月至2012年6月中国医科大学附属第一医院行甲状腺手术患者1360例,所有患者均经手术病理证实。其中甲状腺癌患者509例,结节性甲状腺肿患者851例。共评估甲状腺结节1508个。将甲状腺结节大小、位置、数目、低回声、界限不清、有包膜但不完整或无包膜、有晕环但不完整或无晕环、纵横比≥1、内部有血流、后方伴声衰减,内无囊性回声、微钙化、合并桥本甲状腺炎作为自变量,将甲状腺结节恶性作为应变量,进行Logistic回归分析,筛选甲状腺结节恶性相关因素。对1508个甲状腺结节的恶性相关因素进行评分。采用χ2检验比较结节性甲状腺肿与甲状腺癌患者的甲状腺结节评分。结果甲状腺结节的低回声、界限不清、有包膜但不完整或无包膜、有晕环但不完整或无晕环、纵横比≥1、内部有血流、后方伴声衰减、内无囊性回声、微钙化及合并桥本甲状腺炎与甲状腺结节恶性有相关性。结节性甲状腺肿患者与甲状腺癌患者甲状腺结节评分差异有统计学意义（χ2=802.08, P＜0.05）。768个评分＜6分的甲状腺结节中,742个为良性,24个为恶性;60个评分≥10分的甲状腺结节中,2个为良性,58个为恶性;314个评分8~9分的甲状腺结节中,60个为良性,254个为恶性;368个评分6~7分的甲状腺结节中155个为良性,213个为恶性。结论甲状腺结节的量化评分对鉴别诊断甲状腺结节良恶性有重要的临床意义。超过8分的甲状腺结节大部分为恶性,应外科手术治疗。     

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer

Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n = 937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations. In total, we acquired 223 patients with putative germline mutations, including 159 in BRCA1/2, 61 in 15 other BC susceptibility genes and 3 in both BRCA1/2 and non-BRCA1/2 gene. Major mutant non-BRCA1/2 genes were TP53 (n = 18), PALB2 (n = 11), CHEK2 (n = 6), ATM (n = 6) and BARD1 (n = 5). No factors predicted pathologic mutations in non-BRCA1/2 genes when treated as a whole. TP53 mutations were associated with HER-2 positive BC and younger age at diagnosis; and CHEK2 and PALB2 mutations were enriched in patients with luminal BC. Among high hereditary risk Chinese BC patients, 23.8% contained germline mutations, including 6.8% in non-BRCA1/2 genes. TP53 and PALB2 had a relatively high mutation rate (1.9 and 1.2%). Although no factors predicted for detrimental mutations in non-BRCA1/2 genes, some clinical features were associated with mutations of several particular genes.     

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features

The prevalence of Lynch syndrome (LS) varies significantly in different populations, suggesting that ethnic features might play an important role. We enrolled 3330 consecutive Chinese patients who had surgical resection for newly diagnosed colorectal cancer. Universal screening for LS was implemented, including immunohistochemistry for mismatch repair (MMR) proteins, BRAF^V600E mutation test and germline sequencing. Among the 3250 eligible patients, MMR protein deficiency (dMMR) was detected in 330 (10.2%) patients. Ninety-three patients (2.9%) were diagnosed with LS. Nine (9.7%) patients with LS fulfilled Amsterdam criteria II and 76 (81.7%) met the revised Bethesda guidelines. Only 15 (9.7%) patients with absence of MLH1 on IHC had BRAF^V600E mutation. One third (33/99) of the MMR gene mutations have not been reported previously. The age of onset indicates risk of LS in patients with dMMR tumors. For patients older than 65 years, only 2 patients (5.7%) fulfilling revised Bethesda guidelines were diagnosed with LS. Selective sequencing of all cases with dMMR diagnosed at or below age 65 years and only of those dMMR cases older than 65 years who fulfill revised Bethesda guidelines results in 8.2% fewer cases requiring germline testing without missing any LS diagnoses. While the prevalence of LS in Chinese patients is similar to that of Western populations, the spectrum of constitutional mutations and frequency of BRAF^V600E mutation is different. Patients older than 65 years who do not meet the revised Bethesda guidelines have a low risk of LS, suggesting germline sequencing might not be necessary in this population.     

Overexpression of CD44 is associated with a poor prognosis in grade II/III gliomas

Journal of Neuro-Oncology - Overexpression of CD44 has been detected in many types of tumor tissues. Moreover, CD44 is recognized as a cancer stem cell marker for many cancers. However, the...     

Red blood cell distribution width: a potential laboratory parameter for monitoring inflammation in rheumatoid arthritis

Clinical Rheumatology - Correlation analysis of red blood cell distribution width (RDW) and C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), tumor necrosis factor α...     

杏芎氯化钠注射液对脑梗死患者肢体运动功能的疗效研究

目的观察分析杏芎氯化钠注射液对脑梗死患者肢体运动功能恢复的疗效。 方法选取广州医科大学附属第五医院神经康复科自2018年2月至10月住院的200例脑梗死患者,随机分组,试验组103例,对照组97例。对照组予以标准脑梗死二级预防治疗及神经康复治疗,试验组则在对照组治疗的基础上加用杏芎氯化钠注射液治疗,采用Brunnstrom分期及简化Fugle-Meyer评分评定2组患者治疗前后的运动功能。 结果从Brunnstrom分期角度分析,试验组和对照组治疗14 d后手、上肢、下肢运动功能与治疗前比较均有改善,差异具有统计学意义（P<0.05）。从Fugle-Meyer评分角度分析,试验组Fugle-MeyerⅠ级、Ⅱ级患者65例,治疗后25例肢体功能评估为Ⅲ级;对照组Fugle-MeyerⅠ级、Ⅱ级患者62例,治疗后14例患者肢体功能评估为Ⅲ级;试验组疗效高于对照组,差异具有统计学意义（P=0.046）。 结论试验组、对照组的疗法对脑梗死患者肢体运动功能均有全面而明显的改善作用。在标准脑梗死二级预防及针对性肢体康复治疗基础上,结合杏芎氯化钠注射液治疗可以促使患者肢体功能从Fugle-MeyerⅠ、Ⅱ级向Ⅲ级好转。     

幼儿肝母细胞瘤的多学科综合治疗体会

[摘 要] 目的 探讨多学科协助模式在幼儿肝母细胞瘤诊治中的应用价值。方法 回顾性分析2014年4月至2017年5月湖南省人民医院收治的8例经多学科综合诊治的肝母细胞瘤患儿的临床资料。观察指标：（1）治疗前病变范围（PRETEXT）分期、手术情况;（2）病理组织学特点,术后化疗方案;（3）随访患儿中位生存时间、无瘤生存率、总体生存时间。采用门诊和电话方式进行随访。结果 8例患儿均经过多学科讨论,术前PRETEXT分期,I期1例,II期3例,III期3例,IV期1例;术后病理结果,3例为单纯胎儿型肝母细胞瘤,5例为混合型肝母细胞瘤。术后1个月开始接受顺铂联合多柔比星化疗,共4个周期。随访时间4～40个月,中位随访时间为21.5个月,所有患儿均为无瘤生存。结论 根治性手术切除是治疗儿童肝母细胞瘤的基础,多学科综合诊治可为肝母细胞瘤患儿制定个体化治疗方案。