Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic PMS2 missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum.     

Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1

Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele observed in affected HCINF1 patients. We have introduced the site-specific R396W mutation within the murine Cyp24a1 gene in knock-in mice to generate a humanized model of HCINF1. On the C57Bl6 inbred background, homozygous mutant mice exhibited high perinatal lethality with 17% survival past weaning. This was corrected by crossbreeding to the CD1 outbred background. Mutant animals had hypercalcemia in the first week of life, developed nephrolithiasis, and had a very high 25(OH)D₃ to 24,25(OH)₂D₃ ratio which is a diagnostic hallmark of the HCINF1 condition. Expression of the mutant Cyp24a1 allele was highly elevated while Cyp27b1 expression was abrogated. Impaired bone fracture healing was detected in CD1-R396^w/w mutant animals. The augmented lethality of the C57Bl6-R396W strain suggests an influence of distinct genetic backgrounds. Our data point to the utility of unique knock-in mice to probe the physiological ramifications of CYP24A1 variants in isolation from other biological and environmental factors.     

The ‘beating-heart butterfly technique’ for repair of basal post-infarction ventricle septum defect

Ischaemic ventricular septal defect is a serious complication of acute myocardial infarction with poor outcome. We present the ‘beating-heart butterfly’ technique to close the ventricular septal defect with a double-layered pericardial patch sewn to the intact septum under beating-heart cardiopulmonary bypass in 4 highest-risk patients. This technique combined with a liberal postoperative mechanical circulatory support and open-chest treatment allowed excellent results with 12 months of survival in all patients.     

手足部深度烧伤患者早期整形修复的临床疗效分析

目的探讨手足部深度烧伤患者早期整形修复的临床疗效。方法总结治疗的手足部深度烧伤患者56例资料,按照治疗时间进行分组：早期整形恢复治疗（7d内治疗）的治疗组30例,7d后治疗的对照组26例,治疗后按照文中疗效标准统计各组疗效和创面愈合情况,统计学比较组间差异。结果治疗组创面愈合平均时间为（28．9±75）d,低于对照组平均数据（P〈0．05）,治疗组疗效结果优秀者18例,疗效良好者8例,总优良率86．7％,对照组疗效结果优秀者8例,疗效良好者7例,总优良率57.7％,统计学结果表明组间疗效具有显著性差异（P〈0.05）。结论早期整形修复方法治疗手足部深度烧伤患者具有满意临床疗效。     

低温芒硝序贯疗法预防TAPP术后血清肿发生的疗效观察

目的 探讨低温芒硝序贯疗法在预防腹腔镜下经腹腔腹膜前疝修补术（TAPP）后血清肿发生的治疗效果。方法 收集2019年3月至2022年3月在万安县人民医院普外科和中山大学附属第六医院胃肠、疝与腹壁外科收治的120例行TAPP患者的临床资料,利用电脑随机数字表分为试验组与对照组,每组各60例。试验组予以腹股沟区创面200 m L 4℃生理盐水冲洗+术后腹股沟区冰敷2 h+术后芒硝外敷2 d的3种联合措施,对照组仅予以TAPP术后常规处理;主要观察指标为两组患者术后血清肿发生率,次要观察指标包括手术时间、下床活动时间、住院天数、住院费用、切口疼痛、VAS评分、恶性呕吐、尿潴留及肠梗阻发生率和远期随访指标包括慢性疼痛、补片感染、疝复发等。结果 试验组和对照组患者血清肿发生率分别为1.7%(1/60)、16.7%(10/60),差异有统计学意义（P<0.05）,试验组1例属于Ⅰ型;对照组10例中,Ⅰ型6例、Ⅱ型2例、Ⅳ型2例;Ⅳ型血清肿予以B超引导下穿刺抽吸后逐渐缓解,Ⅰ型、Ⅱ型血清肿予以芒硝外敷处理后均好转。试验组患者术后切口疼痛、恶心呕吐、尿潴留发生率分别是5.0%、3.3%、3.3%...     

完全性房室隔缺损的手术治疗(附36例报告)

目的探讨完全性房室隔缺损的治疗方法。方法在中度低温体外循环下采用双补片法修复36例完全性房室隔缺损。结果手术死亡2例,余患者术后均恢复为窦性心律,无完全性房室传导阻滞。复查心脏彩超二尖瓣轻度反流8例,中度反流2例。结论完全性房室隔缺损应尽早手术。双补片法效果较好。术中应注意预防左室流出道狭窄和矫治二尖瓣关闭不全。