体位性低血压对超高龄人群左心室结构功能的影响

目的:探讨体位性低血压对超高龄人群左心室结构功能的影响。方法:对我科收治的86例年龄≥80岁住院患者,按照立卧位血压测定结果分为体位性低血压组与非体位性低血压组,对比两组患者心脏形态结构、心脏功能。结果:体位性低血压组左心室舒张末期内径、左心室收缩末期内径、左心室质量指数等心脏形态结构指标均显著高于非体位性低血压组,差异均具有统计学意义(P<0.05)。体位性低血压组左心室射血分数、左心室短轴缩短率等心脏功能指标均显著低于非体位性低血压组,差异具有统计学意义(P<0.05)。结论:超高龄人群存在较大比例的体位性低血压患者。体位性低血压与心室结构功能的损伤密切相关,可能加重超高龄住院患者左心室结构功能的损伤程度。     

Experimental reconstruction of dog's esophagus with biotype artificial esophagus

OBJECTIVE: At present, there are few materials available for esophagus reconstruction anywhere in the world. The reported survival rate in animals during the perioperative period is comparatively low. The present study assessed the feasibility of using a biotype artificial esophagus in the reconstruction of a dog's esophagus. METHODS: In 30 mongrel dogs, a portion of the thoracic esophagus was resected and an 8 cm section of artificial esophagus was transplanted to reconstruct the organ. The survival rate, food intake and process of healing were observed. RESULTS: Of the 30 dogs, 28 survived the peri­operative period (93.3% survival). Two dogs (6.7%) developed an anastomotic fistula; 19 dogs survived for 1 year, a survival rate of 79.2% (19/24) with the remaining six dogs were killed according to the experimental protocol. Detachment of the artificial esophagus occurred on average 28.8 days after operation and the dogs suffered from varying degrees of dysphagia 23?45 days after operation. Gradual remission occurred after 4 months. The histological study revealed that the regenerated esophagus was composed of fibrous and connective tissues and the luminal surface was covered with squamous epithelium in 3?6 months. CONCLUSION: The transplanted artificial esophagus detached after the surrounding ‘regenerated esophagus’ had formed, and the squamous epithelium gradually covered the luminal surface. Continuous remodeling of the ‘regenerated esophagus’ gradually relieved the stenosis. Whether detachment of the implant and the postoperative stenosis can be solved is the key problem restricting the use of the biotype artificial esophagus in clinical practice.     

亚硒酸钠对胃粘膜细胞非程序DNA合成、LPO和ras P21表达的影响

目的研究亚硒酸钠对甲基硝基亚硝基胍（ＭＮＮＧ）所致胃粘膜细胞损伤的防护作用．方法观察了亚硒酸钠对ＭＮＮＧ所致胃粘膜细胞非程序ＤＮＡ合成（ＵＤＳ）、脂质过氧化物（ＬＰＯ）和ｒａｓＰ２１表达的影响．结果胃粘膜细胞先用１０μｍｏｌ／Ｌ或１μｍｏｌ／Ｌ亚硒酸钠预处理４ｈ，再给ＭＮＮＧ组细胞的非程序ＤＮＡ合成水平（ｃｐｍ／×１０－６ｍｉｎ－１，１１６６±１５６或１５６６±１８７ｖｓ１８３８±２０５，Ｐ＜００１～００５），脂质过氧化物（２０ｄ，μｍｏｌ／Ｌ，４５±０６或４７±０６ｖｓ７４±０７，Ｐ＜００１）和ｒａｓＰ２１蛋白含量（２０ｄ，Ａ，０６８±００８或０８６±００７ｖｓ１０８±０１１，Ｐ＜００１～００５）均显著低于ＭＮＮＧ组．结论一定剂量亚硒酸钠对ＭＮＮＧ诱导的胃粘膜细胞损伤有防护作用．     

Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping

Approximately 10% of newborns with congenital hypothyroidism are unable to convert iodide into organic iodine. This iodide organification defect has a prevalence of 1 in 40,000 newborns and may be caused by defects in the thyroid peroxidase enzyme (TPO), the hydrogen peroxide-generating system, the TPO substrate thyroglobulin, or inhibitors of TPO. We identified a high incidence of severe hypothyroidism due to a complete iodide organification defect in the youngest generation of five nuclear families belonging to an inbred Amish kindred. Genealogical records permitted us to trace their origin to an ancestral couple 7-8 generations back and to identify an autosomal recessive pattern of inheritance. Initial studies of homozygosity by descent using two polymorphic markers within the TPO gene showed no linkage to the phenotype. In fact, 4 of 15 affected siblings from 2 of the nuclear families were heterozygous, resulting in homozygosity values of 73% and 53% in affected and unaffected family members, respectively. A genome-wide homozygosity screen using DNA pools from affected and unaffected family members localized the defect to a locus close to the TPO gene. Linkage analysis using 4 additional polymorphic markers within the TPO gene reduced the number of homozygous unaffected siblings to zero without altering the percent homozygosity initially found in the affected. Sequencing of the TPO gene revealed 2 missense mutations, E799K and R648Q. TPO 779K was found in both alleles of the 11 affected homozygotes, both mutations were present in each of the 3 affected compound heterozygotes, and there were no TPO mutations in 1 subject with hypothyroidism of different etiology. These results demonstrate the power of the DNA pooling strategy in the localization of a defective gene and the pitfalls of linkage analysis when 2 relatively rare mutations coexist in an inbred population.     

逆转录病毒载体介导IL 6基因转导成纤维细胞的表达

目的将ＩＬ６基因转导至成纤维细胞ＮＩＨ３Ｔ３，并使转染株有效地表达ＩＬ６，为ＩＬ６转基因治疗奠定基础．方法利用重组载体构建技术将质粒ｐＵＣＩＬ６ｃＤＮＡ的目的片段连接于逆转录病毒载体上，并以脂质体介导的方法将重组载体转染包装细胞ＰＡ３１７，以Ｇ４１８筛选克隆细胞，浓缩克隆细胞上清以制备重组病毒液，继之感染ＮＩＨ３Ｔ３细胞后，进行Ｓｏｕｔｈｅｒｎｂｌｏｔ和Ｎｏｒｔｈｅｒｎｂｌｏｔ分析，检测目的基因在靶细胞的整合与转录水平．结果成功地构建了重组载体ｐＺＩＰＩＬ６ｃＤＮＡ，筛选出抗生较强的克隆细胞，制备了高滴度的重组病毒液．杂交结果表明转导株３Ｔ３ＩＬ６具有ＩＬ６基因的整合和相应ｍＲＮＡ的高表达．结论ＩＬ６基因能稳定整合至靶细胞并进行有效的转录表达，为ＩＬ６基因治疗的应用奠定了可靠的基础     

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.     

阶段性康复联合治疗性沟通对胆囊癌患者术后心理状态及生活质量的影响

目的探讨并分析阶段性康复联合治疗性沟通系统(TCS)干预模式对胆囊癌患者术后心理状态及生活质量的影响。方法采用便利抽样法,选取2019年2月—2020年2月郑州大学第一附属医院肝胆胰外二科收治的170例胆囊癌患者为研究对象,按照随机数字表法将其分为观察组(n=86)和对照组(n=84)。对照组患者采用常规护理,观察组实施阶段性康复联合TCS干预模式。比较两组患者干预前后的简明健康量表、SAS和SDS得分,比较两组并发症发生情况。结果干预后两组患者的简明健康量表得分均高于干预前,且观察组得分高于对照组,差异均有统计学意义(P<0.01)。干预后两组患者的SAS和SDS得分均低于干预前,且观察组得分低于对照组,差异均有统计学意义(P<0.01)。观察组术后并发症总发生率为4.65%(4/86),低于对照组的23.81%(20/84),差异有统计学意义(P<0.01)。结论阶段性康复联合TCS干预能有效降低胆囊癌患者术后并发症发生率,改善患者心理状态,提高其生活质量。     

Adaptation and evaluation of a child-friendly patient reported outcome measure for use in Australia

BackgroundUse of Patient Reported Outcomes (PROs) to assess symptoms in children are not routinely used in clinical practice, yet children with complex conditions experience a significant number of symptoms.AimTo adapt and evaluate the Symptom Screening in Pediatrics Tool (SSPedi), a PRO measure developed in Canada for use with Australian children.MethodsSSPedi wording was adapted and item relevance assessed by an expert clinical group (N = 7) resulting in the Australian version (SSPedi-Aus). Cognitive interviewing with children with cancer (N = 10, 8–18 years) established understanding and difficulty with completing. A second group of child-parent dyads (N = 30) were recruited to evaluate psychometric properties (content validity, test-retest reliability, and parent-proxy) measured with Intraclass Correlation Coefficients (ICC) with 95% Confidence Intervals (CI). Acceptability and usefulness of SSPedi-Aus were also assessed.FindingsConstruct validity was confirmed across all items by 30 children. Child test-retest achieved excellent concordance (ICC 0.98, 95% CI 0.91 to 0.99). Symptoms causing the most distress as reported by children were different to those identified by parents. Although children and parents returned a similar mean total score (13.43 vs. 13.80), there was weak overall interrater reliability (ICC 0.37, 95% CI ?0.26 to 0.70, p = 0.12).ConclusionChildren are distressed by symptoms that may not be identified by parents or reported to clinicians, yet these symptoms are amendable to intervention. The SSPedi-Aus is useful to assess the level of distress caused by symptoms in children.