青岛地区D6S477等五个短串联重复序列基因座的遗传多态性研究

目的 了解D6S477等5个基因座在青岛地区汉族群体中基因型分布及等位基因频率等遗传多态性数据，初步探讨其应用价值。方法 收集200名青岛地区汉族无关个体的静脉血，ACD抗凝，采用Chelex法提取DNA，应用聚合酶链反应技术，扩增D6S477、D9S1118、D18S865、D19S400和D20S161基因座的短串联重复序列，聚丙烯酰胺凝胶垂直电泳，银染显色分型。结果 获得了青岛地区汉族群体上述5个基因座的等位基因频率，基因型分布均符合Hardy-Weinberg平衡（P〉0．05）。结论 这5个基因座在青岛地区汉族群体中有较高的非父排除率和个人识别机率，在遗传学研究中有较高的应用价值。     

鄂伦春族Y染色体短串联重复序列多态性研究

目的 调查鄂伦春族Y染色体上10个短串联重复序列基因座及单倍型的遗传多态性。方法 应用PCR和变性聚丙烯酰胺凝胶电泳结合银染显色分型技术，检测102名无关系鄂伦春族男性血样。结果 在DYS392、DYS438、DYS439、DYS456、DYS459、DYS460、DYS461、DYS462、DYS389Ⅰ、DYS389Ⅱ等10个基因座中共检出44个等位基因，等位基因频率分布在0．418（DYS461）至0．727（DYS389Ⅰ）之间，除了DYS461（0．418）和DYS462（0．479）以外，其余等位基因频率均大于0．5。由10个基因座组成的Y染色体单倍型系统单倍型有101种，单倍型频率0．99。结论 上述10个Y-短串联重复基因座在鄂伦春族群体中具有较好的多态性，单倍型具有很高的遗传多态性。     

云南彝族九个短串联重复序列位点遗传多态性

目的研究中国云南彝族人群的群体遗传结构。方法选择9个短串联重复序列（short tandem repeats，STR）位点（D3S1358、vWA、FGA、TH01、TPOX、CSFlPO、D5S818、D13S317、D7S820），采用STR复合扩增及荧光标记STR基因扫描技术，检测84名彝族无关个体血液样本。结果9个STR位点在84名云南彝族共检出69种等位片段，频率分布在0．0060-0．5060之间；检出164种基因型，频率分布在0．0119-0．4167之间。9个STR位点的基因型分布符合Hardy．Weinberg平衡定律（P〉0．05）。9个位点多态信息量分布在0．5804-0．8777之间，杂合度分布在0．6507～0．8002之间，个体识别力分布在0．7976-0．9558之间，除TPOX，TH01两个位点低于0．5外，其余7个位点的非父排除率分布在0．5207～0．8386之间。Neighbor joining（NJ）法构建彝族与云南地区其他11个少数民族的系统进化树显示：彝族首先与白族、普米族、德昂族、阿昌族、独龙族、怒族聚在一起，然后与傈僳族、傣族相聚，最后与景颇族、苗族、纳西族相聚。绪论获得了云南彝族9个STR位点的遗传多态数据，在人类群体遗传数据库建设、法医学亲权鉴定和个体识别研究及应用领域有重要价值。     

华北地区汉族群体15个短串联重复序列基因座遗传多态性分析

目的调查华北地区汉族人群15个短串联重复序列(shorttandemrepeat,STR)基因座遗传多态性分布和群体遗传学数据。方法应用毛细管电泳技术和五色荧光复合扩增的方法,检测597名汉族无关个体的15个STR基因座基因型。结果15个STR基因座的基因频率分布均符合Hardy-Weinberg平衡,所检测的15个STR遗传标记均具有高度多态性,杂合度均超过0.62,15个基因座的个体识别力在0.802~0.967之间,非父排除率在0.320~0·697之间,匹配概率在0.033~0.198之间。15个基因座的累积个体识别能力为0.999999以上,累积非父排除率为0.99999571,累积匹配概率为8.93×10-18。结论联合检测15个基因座可为亲缘鉴定和个体识别提供可靠的法医学证据,这15个STR基因座适用于中国人群的法医物证学检验。     

Endoscopically demonstrable esophageal changes after Helicobacter pylori eradication in patients with gastric disease

BACKGROUND AND AIMS: An increased prevalence of reflux esophagitis has been reported following Helicobacter pylori (H. pylori) eradication in patients with duodenal ulcers in Western countries. However, it has remained unknown whether this might also appertain to individuals with other diseases. We therefore carried out this study to determine the effect of eradicating H. pylori infection in a series of Japanese patients. METHODS: Of a total of 203 H. pylori-positive patients successfully cured of infection, 82 cases (58 males, 24 females) with gastric disease, but not duodenal ulcers, were included in the present study; median age 56 years (range 18-80) and median follow up of 24 months (range 6-65). The patients were investigated clinically and endoscopically at regular intervals. RESULTS: Mild reflux esophagitis developed after eradication in three of 55 (5.5%) patients formerly without this condition, while it improved after eradication in five of 27 (18.5%) patients, with the disease endoscopically diagnosed prior to eradication. The estimated incidence of esophagitis within 3 years was 4.8% after cure of infection. Short segment Barrett's esophagus developed after eradication in six of 58 (10.3%) patients who did not have it prior to the therapy, while the condition did not improve in 24 patients affected before eradication. CONCLUSIONS: Endoscopic esophageal changes after H. pylori eradication in the present series of Japanese patients were relatively infrequent and mild. This therapeutic approach thus appears to be safe and unproblematic.     

经电子支气管镜局部化疗治疗支气管内膜结核的近远期疗效对照研究

目的探讨经电子支气管镜局部化疗治疗支气管内膜结核的近远期疗效。方法将226例确诊的初治涂阳支气管内膜结核病例随机分为两组,观察组116例采用全身化疗联合电子支气管镜局部化疗,对照组110例采用全身化疗联合超声雾化化疗,对比观察两组病例痰菌转阴时间、胸片及胸部CT病变吸收情况,以及支气管内膜病变好转情况。结果观察组痰菌阴转时间显著少于对照组（P〈0.001）,随访2年,痰菌复发率观察组低于对照组（P〈0.05）。治疗4周和终止时胸片及胸部CT病变吸收情况显示,观察组总有效率（53.77%、64.15%）高于对照组（29.59%、39.80%）（P〈0.05）。随访2年,病灶范围增加（复发率）观察组低于对照组（P〈0.05）。观察组治疗3及6个月支气管内膜病变好转率（48.28%、58.62%）均高于对照组（28.19%、40.91%）（P〈0.05）,第12及24个月两组好转率差异无统计学意义（P〉0.05）。结论经电子支气管镜局部化疗结合全身化疗,可加快痰菌转阴和局部病变好转的速度,并降低复发率。     

A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency

A G - C transversion at the fifth nucleotide of intron 3 of GH-I gene was identified in a sporadic case of isolated growth hormone deficiency (IGHD). The mutation was absent in both of the parents, indicating that the mutation occurred de novo. An abnormal hGH mRNA lacking a region encoded by exon 3 was spliced when the mutant GH-I gene was expressed in cultured cells. Since skipping of exon 3 is a common feature for four different mutant GH-I genes identified in patients with autosomal dominantly inherited IGHD, we conclude that the mutation causes IGHD in this case.     

Improving diabetes care for young people with type 1 diabetes through visual learning on mobile phones: mixed-methods study

Background

Only 17% of Norwegian children and adolescents with diabetes achieve international treatment goals measured by glycated hemoglobin (HbA_1c). Classic patient–physician consultations seem to be poorly adapted to young children. New strategies that are better attuned to young people to improve support of adolescents’ self-management of diabetes need to be tested and evaluated.

Objective

(1) To explore how applications for mobile phones can be used in follow-up of adolescents with type 1 diabetes, and (2) to use the findings to guide further development of the applications and as a basis for future studies.

Method

We pilot tested two mobile phone applications: (1) an application that contained a picture-based diabetes diary to record physical activity and photos taken with the phone camera of food eaten, where the phone also communicated with the glucometer by Bluetooth technology to capture blood glucose values, and (2) a Web-based, password-secured and encrypted short message service (SMS), based on access using login passwords received via SMS to be used by participants to send messages to their providers when they faced obstacles in everyday life, and to send educational messages to the participants. At the end of the 3-month pilot study, 12 participants (7 girls and 5 boys ) aged 13–19 years completed semistructured interviews. The participants had a mean HbA_1c value of 8.3 (SD 0.3), mean age of 16.2 (SD 1.7) years, mean body mass index of 23.3 (SD 3.2) kg/m², and mean diabetes duration of 7.5 (SD 4.6) years. We applied three additional measurements: change in metabolic control as measured by HbA_1c, the System Usability Scale, and diabetes knowledge.

Results

From the interviews, three main categories emerged: visualization, access, and software changes. Participants appreciated the picture-based diary more than the SMS solution. Visualization of cornerstones in diabetes self-care (ie, diet, insulin dosage, physical activity, and pre- and postprandial glucose measurements all transformed into one picture) in the mobile diary was found to be an important educational tool through reflections in action. This led to a change in participants’ applied knowledge about the management of their disease. Additional measurements supplemented and supported the qualitative findings. However, changes in HbA_1c and participants’ theoretical knowledge as tested by a 27-item questionnaire, based on a national health informatics’ diabetes quiz, before and after the intervention were not statistically significant (P = .38 and P = .82, respectively, paired-samples t test). Participants suggested additional functionality, and we will implement this in the design of the next software generation.

Conclusion

Participants reported an increased understanding of applied knowledge, which seem to positively affect diabetes self-care. Visual impressions seem well adapted to the maturation of the adolescent brain, facilitating the link between theoretical knowledge and executive functions. SMS gave the adolescents a feeling of increased access and security. Participants gave valuable input for further development of these applications.     

左卡尼汀治疗儿童扩张型心肌病的疗效观察

目的：探究左卡尼汀对儿童扩张型心肌病(dilated cardiomyopathy,DCM)的治疗效果。方法：共纳入45例DCM患儿,随机分为对照组(20例)与实验组(25例)。患者均接受常规药物治疗,实验组在此基础口服左卡尼汀,时间为1年。记录患者治疗前后左心室射血分数(ejection fraction,EF)、左心室短轴缩短率(fractional shortening,FS)、左心房直径增量值(left atrium diameter increments value, LADIV)、左心室直径增量值(left ventricle diameter increment value,LVDIV)以及药物不良反应。结果：两组患者治疗前年龄,性别,心功能分级,EF,FS,LADIV和LVDIV比较均差异无统计学意义(P>0.05)。治疗1年后,实验组与对照组相比EF升高[(61.8±11.7)% vs (43.4±6.8)%,P=0.034], FS,LADIV和LVDIV差异无统计学意义(P>0.05)。实验组治疗后与治疗前相比,EF[(61.8±11.7)% vs (41.4±6.2)%]和FS[(24.5±7.1)% vs (21.3±5.2)%]升高,LADIV[(3.4±0.8) mm vs (5.9±0.9) mm]和LVDIV[(4.8±0.9) mm vs (9.7±4.2 mm)]下降(P 0.05)。两组患者在随访的1年时间内均未观察到药物不良反应。结论：口服左卡尼汀能改善DCM患儿心功能,药物治疗安全,值得临床推广使用。