WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Clinical Oral Investigations - The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of...     

Is low or high body mass index in patients operated for oral squamous cell carcinoma associated with the perioperative complication rate?

The aim of this study was to analyse the effect of body mass index (BMI), both low and high values, on the perioperative complication rate in patients with oral squamous cell carcinoma (OSCC). The medical records of 259 patients operated between 2014 and 2017 for OSCC were reviewed. Univariate and multivariate analyses were performed. Sixty of the 259 patients developed 87 complications. Low or high BMI was not associated with the perioperative complication rate. A longer operating time and increased blood loss were associated with a higher perioperative complication rate and higher Clavien–Dindo grade. Low BMI, American Society of Anesthesiologists score 2 and 3, a longer operating time, and increased blood loss were associated with a longer hospital stay. Low BMI was associated with a longer hospital stay. Neither low nor high BMI was associated with the perioperative complication rate. A longer operating time and increased blood loss were associated with a higher perioperative complication rate and higher Clavien–Dindo grade.     

HBV患者血清YKL-40、CA19-9、GP73水平与其病情相关性

目的 分析HBV患者YKL-40、CA19-9、GP73水平差异及与患者病情轻重程度的相关性,探讨HBV患者病情的判定指标。方法 选取2015年5月—2018年5月收治的100例HBV患者,其中慢性HBV感染组40例、慢性乙型肝炎组36例、HBV相关肝硬化组24例,同期选择我院健康体检的健康者50例作为健康对照组;检测患者血中YKL-40、CA19-9、GP73水平;分析HBV感染患者血清YKL-40、CA19-9、GP73水平与病情轻重程度的相关性。结果 慢性HBV感染、慢性乙型肝炎及HBV相关肝硬化患者血中YKL-40水平分别为（36.38±4.19）ng/mL 、（49.02±4.32）ng/mL、（65.14±5.21）ng/mL ,CA19-9分别为（12.03±1.03）KU/L、（13.84±0.98）KU/L、（16.94±0.81）KU/L,GP73分别为（47.22±5.38）ng/mL 、（98.53±10.24）ng/mL 、（229.85±12.19）ng/mL,均明显高于对照组的（28.19±3.27）ng/mL 、（7.34±0.92）KU/L 、（30.93±3.89）ng/mL,均P=0.000 0。随着慢性HBV感染者、慢性乙型肝炎患者和不同HBV相关肝硬化患者肝脏炎症及纤维化程度加重,患者血中YKL-40、CA19-9和GP73也随之显著增加,均P=0.000 0;YKL-40、CA19-9和GP73均是影响HBV感染患者体内炎症坏死及肝脏纤维化的独立性影响因素,差异有统计学意义（P<0.05）。结论 HBV感染患者血清中YKL-40、CA19-9、GP73水平是HBV感染患者病情轻重程度的独立性影响因素。     

Utility of the 3‐Vessel and 3‐Vessel and Trachea Views in Prenatal Diagnosis of a Pulmonary Artery Sling

A pulmonary artery (PA) sling is a very rare congenital cardiovascular anomaly, and only a few studies have reported PA slings in fetuses. The relationship of the PA, aorta, ductus arteriosus, and trachea can be evaluated in the 3‐vessel and 3‐vessel and trachea views during fetal echocardiography. A PA sling can be detected by abnormal positioning of the left PA in relation to the trachea when sweeping from the 3‐vessel view cranially to the 3‐vessel and trachea view. Here we report 3 cases of fetal PA slings and their follow‐ups. Two cases were confirmed by postnatal echocardiography, and the other case was confirmed by a cardiovascular cast after pregnancy termination. We emphasize that the 3‐vessel and 3‐vessel and trachea views are of crucial importance in the prenatal diagnosis of a PA sling.     

Genetic and epigenetic alterations of the EGFR and mutually independent association with BRCA1, MGMT,and RASSF1A methylations in Vietnamese lung adenocarcinomas

Genetic and epigenetic alterations importantly contribute to the pathogenesis of lung cancer. In the study, we measured the frequency and distribution of molecular abnormalities of EGFR as well as the aberrant promoter methylations of BRCA1, MGMT, MLH1, and RASSF1A in Vietnamese lung adenocarcinomas. We investigated the association between genetic and epigenetic alteration, and between each abnormality with clinicopathologic parameters. Somatic EGFR mutation that was found in 49/139 (35.3%) lung adenocarcinomas showed a significant association with young age, female gender, and non-smokers. EGFR overexpression was identified in 82 tumors (59.0%) and statistical relationships with EGFR or BRCA1 methylation but not EGFR mutation. In addition, EGFR, BRCA1, MGMT, MLH1, and RASSF1A methylations were found in 33 (23.7%), 41 (29.5%), 46 (33.1%), 28 (20.1%), and 41 (29.5%) cases of a total of 139 lung adenocarcinomas, respectively. The RASSF1A methylation was found to be linked to the smoking habit. Methylations in MGMT and RASSF1A were also found to correlate with metastasis status. Furthermore, the distribution of EGFR mutation and that of BRCA1, MGMT or RASSF1A methylation were significantly exclusive in lung adenocarcinomas. The main finding of our study demonstrate that epigenetic abnormalities might play a critical role for the lung tumorigenesis in patients with smoking history and metastasis, and partly affect the predictive value of EGFR mutations through blocking expression due to promoter EGFR hypermethylation. Mutually exclusive distribution of genetic and epigenetic alterations reflects differently biological characteristics in the etiology of lung adenocarcinomas.     

磁共振弥散加权成像结合三维乳腺数字化断层摄影钙化分数在乳腺良恶性钙化病变鉴别中的诊断价值

  目的  评估磁共振弥散加权成像（DWI）结合三维乳腺数字化断层摄影（DBT）钙化分数对于钙化征象在乳腺良恶性病变诊断的应用价值。  方法  回顾性分析我院118例行乳腺DWI检查和DBT检查的患者，DBT检查发现有钙化征象，其中乳腺癌患者51例，病理类型包括:浸润性导管癌、浸润性导管癌、导管原位癌、髓样癌、浸润性小叶癌、黏液腺癌；乳腺良性病变67例，病理类型包括:纤维腺瘤、腺病、导管内乳头状瘤。对所有患者DBT图像的钙化征象进行钙化评分并且测量相应病变区域的表观扩散系数（ADC）值，分析ADC值、钙化分数及二者联合在乳腺含钙化病变的诊断效能。  结果  乳腺癌组ADC值低于乳腺良性病变组，差异有统计学意义（P < 0.05）；钙化分数高于良性病变组，差异有统计学意义（P < 0.05）。ADC值对诊断乳腺良恶性病变的曲线下面积（AUC）为0.853，钙化分数对诊断乳腺良恶性病变的AUC值为0.855，采用Delong检验得出两种方法对诊断乳腺含钙化病变的良恶性诊断效能一致，差异无统计学意义（P=0.625）。两种方法（钙化分数+ADC值）的Logistic回归分析显示，两种方法相结合的AUC值为0.903，具有很高的诊断效能。将ROC曲线（钙化分数、ADC值、两种方法结合的预测概率）经两两Delong检验结果显示，两种方法结合的ROC与单一ROC的差异有统计学意义（P=0.041、0.022）。  结论  DWI与DBT钙化分数对于钙化征象在乳腺良恶性病变的鉴别诊断效能无差别，两种方法相结合的诊断效能显著高于单一方法，为乳腺含钙化病灶的诊断与鉴别诊断中提供了更加可靠的依据。