Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents

BackgroundRestless legs syndrome (RLS) and growing pains (GPs) share many common features and are sometimes overlapping diagnoses. The present study aims to investigate the shared features of patients with RLS, classified based on the 2013 diagnostic criteria of International Restless Legs Syndrome Study group and of patients with GPs, diagnosed based on the combined criteria proposed in 2013.MethodsA cross-sectional population study was conducted in 7 Istanbul schools, which were selected randomly. A total of 4565 (56.1% female) children aged 9 to 18 years were included. In the first stage, candidates of RLS and GPs were identified based on 2 separate questionnaires, whose diagnoses were confirmed by a second survey applied to them under parental supervision.ResultsOut of 192 children (65.6% female) diagnosed as definite RLS (yearly prevalence: 4.2%), 30 (15.6%) reported bilateral leg muscle pain localized typical regions for GPs, which started <13 years of age in 17 children. An urge to move the legs to relieve unpleasant sensations or pain was present in 39.3% of 140 children (64.3% female) classified as GPs (yearly prevalence: 3.1%). Occurrence of symptoms at rest or when lying down was present in 36.4% of GPs children and relief by gross movements was in 21.4% children. Only 12 patients (9 with definite RLS and 3 with GPs) (0.03% of total cohort) were eligible for overlapping diagnosis of GPs and RLS.ConclusionAlthough a considerable number of patients with RLS and GPs share some clinical features, a combined phenotype is very rare.     

Overlapping association signals in the genetics of hair-related phenotypes in humans and their relevance to predictive DNA analysis

Genetic prediction of different hair phenotypes can help reconstruct the physical appearance of an individual whose biological sample is analyzed in criminal and identification cases. Up to date, forensic prediction models for hair colour, hair shape, hair loss and hair greying have been developed, but studies investigating predictability of hair thickness and density traits are missing. First data suggesting overlapping associations in various hair features have emerged in recent years, suggesting partially common genetic basis and molecular mechanisms, and this knowledge can be used for predictive purposes. Here we aim to broaden our understanding of the genetics underlying head, facial and body hair thickness and density traits and examine the association for a set of literature SNPs. We characterize the overlap in SNP association for various hair phenotypes, the extent of genetic interactions and the potential for genetic prediction. The study involved 999 samples from Poland, genotyped for 240 SNPs with targeted next-generation sequencing. Logistic regression methods were applied for association and prediction analyses while entropy-based approach was used for interaction testing. As a result, we refined known associations for monobrow and hairiness (PAX3, 5q13.2, TBX) and identified two novel association signals in IGFBP5 and VDR. Both genes were among top significant loci, showed broad association with different hair-related traits and were implicated in multiple interaction effects. Overall, for 14.7% of SNPs previously associated with head hair loss and/or hair shape, a positive signal of association was revealed with at least one hair feature studied in the current research. Overlap in association with at least two hair-related traits was demonstrated for 24 distinct loci. We showed that the associated SNPs explain ∼5–30% of the variation observed in particular hair traits and allow moderate accuracy of prediction. The highest accuracy was achieved for hairiness level prediction in females (AUC = 0.69 for the “none”, 0.69 for the “low” and 0.76 for the “excessive” hairiness category) and monobrow (AUC = 0.69 for the “none”, 0.62 for the “slight” and 0.70 for the “significant” monobrow category) with 33% of the variation in hairiness level in females explained by 7 SNPs and age, and 20% of the variation in monobrow captured by 7 SNPs and sex. Our study presents clear evidence of pleiotropy and epistasis in the genetics of hair traits. The acquired knowledge may have practical application in forensics, as well as in the cosmetic industry and anthropological research.     

Psychotherapy and distributive justice: a Rawlsian analysis

In this paper I outline an approach to the distribution of resources between psychotherapy modalities in the context of the UK’s health care system, using recent discussions of Cognitive Behavioural Psychotherapy as a way of highlighting resourcing issues. My main goal is to offer an approach that is just, and that accommodates the diversity of different schools of psychotherapy. In order to do this I draw extensively on the theories of Justice and of Political Liberalism developed by the late John Rawls, and adapt these to the particular requirements of psychotherapy resourcing. I explore some of the implications of this particular analysis, and consider how the principles of Rawlsian justice might translate into ground rules for deliberation and decision-making.     

颈部重叠埋置皮肤扩张器扩张修复颌面颈部瘢痕

目的探讨在颈阔肌的浅层重叠埋置皮肤扩张器的皮肤扩张技术在颌面颈部瘢痕挛缩畸形修复中的应用及效果。方法在颈阔肌浅面的同一剥离腔隙内重叠埋置2个扩张器,按期注水扩张,4～6周后行扩张器Ⅱ期手术。结果自2004年以来应用这一技术整形修复颌面颈部瘢痕挛缩畸形16例,除1例颈部重叠埋置扩张器患者于晚期出现扩张器外露,及时手术处理后未影响最终手术效果外,其余均取得良好效果。结论扩张器重叠埋置扩张技术与传统的皮肤扩张术相比,在相同时间内可提供更多的可利用的扩张皮肤,降低了与扩张术有关的并发症的发生率,特别是在颈阔肌浅面的重叠埋置扩张尤为适用于颌面颈部瘢痕的整形修复。     

猪干扰素-γ基因的合成及其在大肠杆菌中的表达

目的:构建猪干扰素-γ基因(PoIFN-γ)的融合表达质粒,并在原核系统表达,为猪γ干扰素生物药剂或疫苗佐剂的开发奠定基础.方法:选择大肠杆菌偏爱密码子,分成20个长约48 bp且相互配对的寡核苷酸片段,采用重叠PCR方法人工合成了猪干扰素-γ成熟蛋白编码基因,并经测序证实后克隆至原核表达载体pQE30中.经限制性核酸内切酶酶切鉴定、PCR和核酸序列分析后,不同温度下以IPTG诱导表达,对表达产物进行SDS-PAGE电泳分析.结果:限制性核酸内切酶酶切鉴定、PCR和核酸序列分析表明,扩增出了PoIFN-γ基因,成功构建了重组质粒pQE30/PoIFN-γ,SDS-PAGE分析显示目的蛋白以包涵体的形式在大肠杆菌中获得高表达,表达量占总菌体蛋白的84.5%.结论:应用重叠PCR合成PoIFN-γ基因并在大肠杆菌中得到了高效表达.     

Local hyperthermia induced by focussed and overlapping ultrasonic fields—An in vivo demonstration

Axial temperature distributions were measured in living and post mortem porcine tissues during sonication with plane, focussed and overlapping ultrasonic fields. With the focussed field it was always possible to induce the temperature maxima at depths up to 50 mm, although the actual temperatures achieved varied from animal to animal. The plane 0.75 MHz transducer produced a maximum temperature close to the skin surface. With 7 overlapping plane fields a relatively uniform temperature distribution was produced in a large tissue volume. The blood perfusion in tissue has a significant effect not only on the magnitude of the temperature increase, but also on the temperature distribution.     

精神心理因素在功能性胃肠病症状重叠中的作用及其机制

功能性胃肠病（FGIDs）是消化系统常见疾病,其发病机制复杂,至今尚未完全明了。近来研究发现,不同类型的FGIDs之间常存在症状重叠,且精神心理因素在FGIDs症状重叠的发生、发展中具有重要作用。本文就精神心理因素在FGIDs症状重叠中的作用及其机制作一综述。     

鼻咽癌IMRT治疗野与颈前切野相邻关系质量保证研究

目的 探讨鼻咽癌适形调强放射治疗（IMRT）野与颈前切野相邻野衔接方式质量保证的经验。方法 用相邻野边界确定的两种方法和两种体位固定法分别测定模拟定位机下及验证片相邻野之间的重叠区。结果方法一面罩固定枕固定头部体位相邻野之间的重叠区的最大距离小于或等于2mm以外，其余三种方法相邻野之间重叠区的最小距离均大于2mm。结论 鼻咽癌做适形调强放射治疗的患者颈前切野的放疗宜采用相同的面罩固定枕固定头部体位，颈前切野上界的确定宜采用治疗床向头方向移动后X轴中心线。     

重叠综合征患者夜间缺氧和睡眠结构的分析

目的　探讨重叠综合征 (OS)患者夜间缺氧和睡眠结构的变化。方法　对 19例OS、2 5例阻塞性睡眠呼吸暂停综合征 (OSAS)、17例慢性阻塞性肺疾病 (COPD)和 14例鼾症患者分别进行全夜多导睡眠仪 (PSG)检查 ,并对各组数据作统计学t检验。结果　单纯鼾症患者基本不存在日间或夜间缺氧 (P <0 .0 5 ) ;OSAS患者最低动脉血氧饱和度 (SaO2 L)显著低于COPD患者 (P <0 .0 1) ,最长呼吸暂停时间 (TL)、总睡眠时间 (TST)和睡眠效率 (SE)显著高于COPD患者 (P <0 .0 1) ,OS患者SaO2 L、深睡眠所占百分率 (S3+ 4 )显著低于COPD患者 (P <0 .0 1) ,动脉血氧饱和度 (SaO2 ) <90 %累计时间的百分率 (SLT90 % )、SaO2 <80 %累计时间占睡眠时间的百分率 (SLT80 % )及浅睡眠所占百分率 (S1+ 2 )显著高于COPD患者 (P <0 .0 1)。OS患者SLT90 %、S1+ 2显著高于OSAS患者 (P <0 .0 1) ,睡眠效率显著低于OSAS患者 (P <0 .0 1)。结论　OS患者夜间缺氧较严重 ,睡眠结构改变明显。     

Experimental Study of a New Operative Procedure for Nonischemic Dilated Cardiomyopathy: Overlapping Cardiac Volume Reduction Operation

Purpose: To assess a newly devised procedure for cardiac volume reduction without resecting any cardiac muscle and evaluate its effectiveness in an experimental settings. Methods: Ten beagle dogs underwent a rapid pacing leading to heart failure for 3 weeks and then underwent left ventricular reduction by a procedure called the overlapping cardiac volume reduction operation (OLCVR), which consisted of a longitudinal incision in the left ventricular (LV) free wall, sutures from the left margin to the septal wall, and the right margin to the LV free wall. A slope of the linear preload recruitable stroke work relationship (M _w), with an X-intercept (V _o) were calculated as precise indicators of the LV systolic function. The constant of isovolumic pressure decay (Tau) and the peak filling rate (PFR) were also calculated as indicators of the LV diastolic function. Results: The LV end-diastolic dimensions significantly decreased by OLCVR (43 ± 2 to 25 ± 1 mm). Fractional shortening significantly improved by OLCVR (11% ± 2% to 30% ± 4%). M _w (erg · cm⁻³ · 10³) also significantly improved (21 ± 2 to 33 ± 3 (P < 0.001)), whereas V _o, Tau, and PFR did not show any significant changes. Conclusion: The OLCVR significantly increased the early LV systolic function without any detrimental effects on the diastolic function. This procedure may therefore be a useful therapeutic option for end-stage cardiomyopathy. Received: April 8, 2002 / Accepted: September 3, 2002 Reprint requests to: Y. Matsui, Department of Cardiovascular Surgery, NTT East Corporation Sapporo Hospital, South 1 West 15, Sapporo 060-0061, Japan