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.     

心脏外科专业型硕士研究生培养模式思考

在我国临床医学专业学位硕士研究生同住院医师规范化培训并轨政策全面落实的背景下,心脏外科专业型硕士研究生从招生到培养过程中呈现出一些问题,通过从规范化培训计划的制定、人文素养和科研素养培育3个方面,结合教学体会提出了当前培养模式下对心脏外科专业型硕士研究生综合培养的思考。     

Intrawound application of vancomycin reduces the proportion of fracture-related infections in high-risk tibial plateau fractures

IntroductionDespite the improvements in surgical techniques and the use of prophylactic intravenous antibiotics, the fracture-related infection (FRI) incidence after high-risk tibial plateau fractures remains high. This study aimed to evaluate the clinical effect of the intrawound application of vancomycin on the FRI after high-risk tibial plateau fracture surgery.MethodsA total of 243 patients who underwent high-risk tibial plateau fracture surgery from May 2013 to June 2021 were retrospectively reviewed. Of these, 233 cases were enrolled. Considering the preoperative patient condition, surgeons applied vancomycin powder directly into the surgical site before wound closure in 105 cases (intrawound application of vancomycin powder with preoperative intravenous cephalosporin). The remaining 128 cases served as the control group (preoperative intravenous cephalosporin alone). Clinical data and surgical details were recorded. The Cox proportional hazards regression analysis was used to assess risk factors for FRI. The Kaplan-Meier method and the log rank test illustrated the infection status of patients based on the application of intrawound vancomycin. The primary outcome was an FRI within one year. Secondary outcomes included bacterial culture and vancomycin-related complications.ResultsOur study demonstrated a significant difference in the incidence of FRI between the vancomycin group and the control group (3.8% versus 10.9%; p=0.041). Multivariable Cox regression showed the intrawound application of vancomycin powder decreased the rate of FRI. There were no complications related to intrawound vancomycin observed during follow-up. The presence of Gram-positive FRI was higher in the control group compared with the vancomycin group.ConclusionsIntrawound application of vancomycin was associated with a significant lower rate of FRI after high-risk tibial plateau fracture surgery compared to the control group.     

新辅助化疗后门静脉系统全置换治疗局部进展期胰腺癌一例报告

患者女性,65岁,局部进展期胰腺癌伴门静脉、肠系膜上静脉和肠系膜上动脉侵犯,经6个周期奥沙利铂+氟尿嘧啶+伊立替康+亚叶酸钙(FOLFIRINOX)新辅助化疗后,肿瘤评估为部分缓解,但仍属于局部进展期胰腺癌。患者行动脉优先入路、全门静脉系统切除、异体血管置换重建的扩大胰十二指肠切除术,同时运用异体血管体外成形技术。患者术后已无瘤生存28个月。FOLFIRINOX新辅助化疗方案可使部分局部进展期胰腺癌患者疾病达到稳定状态,而异体血管体外成形技术的应用为门静脉系统全切除置换提供了一种新的方法,使患者有机会达到根治性手术切除,从而改善远期预后。     

Supersonic Shear Imaging for Quantification of Lateral Abdominal Muscle Shear Modulus in Pediatric Population with Scoliosis: A Reliability and Agreement Study

The aim of this study was to assess the intra- and inter-rater reliability/agreement of the lateral abdominal muscle (LAM) stiffness and thickness measurements at rest and during contraction and to determine the relationship between the superficial fat thickness and the LAM stiffness measurements. LAM stiffness and thickness were measured using supersonic shear wave elastography (SSI) in pediatric participants. The reliability of LAM stiffness and thickness measurements ranged from moderate to excellent. There was an inverse correlation between fat thickness and between-rater difference in the resting external oblique stiffness (r > –0.37) and the contracted external and internal oblique stiffness (r > –0.40). SSI is a reliable method for assessing LAM stiffness and thickness in pediatric populations. To remove potential systematic errors: (i) the first round of measurements should be performed to familiarize patients with procedures; (ii) the examiner should pay more attention while performing LAM measurements on the opposite side of the body.     

Can acupuncture combined with SSRIs improve clinical symptoms and quality of life in patients with depression? Secondary outcomes of a pragmatic randomized controlled trial

ObjectivesTo explore the effects of acupuncture (manual acupuncture or electroacupuncture) combined with SSRIs for moderate to severe depression improving major clinical symptoms and life quality of the patients on secondary outcomes.DesignPragmatic, parallel, randomized controlled trial.Setting6 hospitals in China.Interventions6 weeks of manual acupuncture (MA)+selective serotonin reuptake inhibitors (SSRIs), electroacupuncture (EA)+SSRIs, and SSRIs alone.Main outcome measuresThe primary outcome was response rate of 17-item Hamilton Depression Scale (HAMD-17) total score at 6^th week. The secondary outcomes reported in this analysis were HAMD-17 factor scores at 1^st, 2^nd, 4^th, 6^th, 10^th week and WHO Quality of Life-BREF (WHOQOL-BREF) scores at 6^th week.Results477 patients were randomly assigned into MA + SSRIs (n = 161), EA + SSRIs (n = 160), or SSRIs alone (n = 156) groups. For HAMD-17 (at 6^th week), the MA + SSRIs group was significantly better than the SSRIs alone group in retardation factor (p = 0.008), while the EA+SSRIs group was significantly better than the SSRIs alone group in anxiety/somatization factor (p<0.001) and sleep disturbance factor (p = 0.002). For WHOQOL-BREF (at 6^th week), the EA + SSRIs group, compared with the SSRIs alone group, produced a more significant improvement in the overall quality of life, general health, physical health, and psychological health (p<0.05). While, the MA + SSRIs group, compared to the SSRIs alone group, showed significant advantage only in psychological health (p = 0.023).ConclusionsEither MA or EA combined SSRIs treatment could improve symptoms and quality of life for patients with moderate to severe depression. The main limitation of this trial was not using a sham control therefore the placebo effect could not be excluded.     

糖尿病合并白内障及单纯老年性白内障与房水中细胞因子相关性的临床研究

目的探讨糖尿病合并白内障及单纯老年性白内障与房水中细胞因子的相关性。 方法收集2017年10月至2018年2月在内蒙古医科大学附属医院接受白内障手术治疗49例患者(49只眼)的临床资料。其中，男性22例(22只眼)，女性27例(27只眼)，平均年龄(64.4±9.7)岁。依据患者是否患有糖尿病，分为实验1组和实验2组。其中，糖尿病合并白内障患者14例(14只眼)为实验1组；单纯老年性白内障患者35例(35只眼)为实验2组。所有患者白内障术中收集房水。采用细胞因子微球技术检测患者血清及房水中白细胞介素-8(IL-8)、白细胞介素-10(IL-10)、血管内皮生长因子(VEGF)、血管细胞粘附分子-1(VCAM-1)及成纤维细胞生长因子(bFGF)的浓度，酶联免疫吸附试验检测人血管内皮细胞生长因子B(VEGF-B)和胎盘生长因子(PLGF)的浓度。采用Spearman相关分析评价两组房水中各细胞因子浓度与晶状体皮质混浊、核性混浊及后囊下混浊的相关性。 结果实验1组和2组患者房水中IL-8、IL-10、VEGF、BFGF、VCAM-1、PLGF、VEGF-B浓度分别为(31.69±27)pg/ml、(5.2±0.41)pg/ml、(47.27±20.58)pg/ml、(17.28±4.11)pg/ml、(416.5±310.66)pg/ml、(17.85±6.70)pg/ml、(65.54±26.89)pg/ml、(12.38±6.52)pg/ml、(3.7±2.13)pg/ml、(36.54±14.97)pg/ml、(17.43±4.33)pg/ml、(331.39±205.80)pg/ml、(22.21±17.47)pg/ml及(74.36±26.75)pg/ml。实验1组房水中VCAM-1浓度与晶状体核性混浊呈负相关(r＝-0.61，P<0.05)。实验1组和2组患者血清中各细胞因子与晶状体核性混浊无相关性(r＝-0.03，-0.10，0.26，0.04，-0.32，-0.19；P均>0.05)、(r＝-0.15，0.13，-0.15，-0.11，0.11，-0.18；P均>0.05)、(r＝0.21，0.53，0.20，0.13，-0.12，0.16；P均>0.05)、(r＝-0.06，0.03，-0.01，-0.20，0.09，0.20；P均>0.05)、(r＝0.39，0.02，-0.11，-0.20，-0.13，0.03；P均>0.05)及(r＝0.13，0.09，0.32，0.25，0.11，-0.10；P均>0.05)。 结论两组房水中细胞因子与白内障之间规律不同。糖尿病患者房水中VCAM-1的浓度与晶状体的核性混浊呈负相关，VCAM-1可能是核性白内障的保护性因素。