Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised.     

弯刀综合征14例外科治疗结果分析

目的 探讨小儿弯刀综合征的诊断、外科治疗方法及治疗后的近、中期结果。方法 回顾性分析2010年1月到2017年12月手术治疗的14例弯刀综合征的临床资料。其中,男7例,女7例;年龄(18.23±28.55)个月,范围在23 d至9岁。合并其他心血管畸形10例,中位心8例,右肺发育不良7例,有侧支循环8例,合并肺动脉高压10例。用SPSS 16.0软件的寿命表(Life Table)做出本组患儿术后生存曲线,评估其近、中期生存状况。结果 9例异常肺静脉(scimitar vein,SV)从下腔静脉切下,端-侧吻合于左心房;SV分成2支2例,1例采用2支SV连同部分下腔静脉壁切下,另1例2支SV从下腔静脉从根部切下侧-侧吻合形成单根SV,均吻合于左心房;SV离左心房距离过大3例,2例将SV吻合在右心房右侧壁,再重建心房间隔,1例SV与自体心包卷管道连接再吻合于左心房。其他心血管畸形同期手术矫治。8例有侧支循环,3例心导管检查时被封堵,5例手术时切断缝合。本组14例手术死亡2例(14.29%),另有1例于术后1年2个月因肺炎、呼吸衰竭死亡。本组术后1、3、5年累积生存率分别为86%、73%和73%。术后出院时有1例移植的SV开口狭窄,血流速度为1.9 m/s;有3例随访期间发现移植SV狭窄,血流速度超过1.6 m/s。结论 弯刀综合征可合并其他心血管畸形、中位心、右肺发育不良等。一般将SV与左心房吻合;SV离左心房距离大或多条SV时,可采用个性化办法将SV吻合于左心房。侧支循环心导管检查时可封堵,或术中切断缝合。     

糖尿病前期中医证型及证素特点分析＊

目的 探讨糖尿病前期的中医证型及证素分布特点。方法 检索中国知网、万方及维普三大数据库中收录的自建库以来有关糖尿病前期证型的临床研究文献，对中医证型进行规范整理，建立数据库，提取证素，运用数据挖掘技术中的关联分析、聚类分析探究证素分布规律。结果 共纳入10篇文献，总有效病例1620例，证型经规范处理后整理为18个，主要证型为脾虚痰湿证。共提取证素13个，主要病位证素为脾，主要病性证素为气虚、湿和痰，关联分析显示脾—湿支持度和置信度最高，聚类分析结果可得到3个聚类组。结论 糖尿病前期病位在脾，气虚、脾、痰、湿是常见证素，临床诊治糖尿病前期应注重从脾论治，需辨证施治。     

The impact of a total knee arthroplasty on jaw movements,upper body posture,plantar pressure distribution,and postural control

ABSTRACT

Objective: The purpose of this study was to examine the influence of a total knee arthroplasty (TKA) on linked cranial and caudal structures.

Methods: Thirty-five (14f/21m) subjects participated in this study: 15 subjects (9f, 6m) pre- and post- TKA and a control group of 20 subjects (5f, 15m). The measurements included: jaw condyle position and movement, back scan, plantar pressure distribution, and body sway.

Results: There were no significant differences in electronic position analysis of the jaw; however, the protrusion of the TKA group improved (p = 0.001). The test group had a more anteriorly inclined thoracic spine and a less pronounced lumbar lordosis. Before and after surgery, the body sway in the test group was larger.

Conclusion: The TKA affected most prominently the static mechanisms of the postural control and the spine position. The trajectories of the mandible during protrusion also changed slightly.     

Telangiectasia macularis eruptiva perstans: diagnóstico dermatoscópico

IntroductionTelangiectasia macularis eruptiva perstans (TMEP) is a rare cutaneous mastocytosis, characterised by erythematous and/or brown macula in which telangiectasia are identified. The diagnosis is based on the clinical state of the lesions and on histopathology; however dermoscopy is an important diagnostic tool, revealing a very characteristic reticular vascular pattern.MethodologyA clinical examination, dermatoscopy, photographic follow-up, and histological study were performed on 5 patients with erythematous brown spots on the neck and V of the neckline, and were seen in this Centre between 2008 and 2018. A polarised light dermatoscope was used on lesion and the skin around it. All patients had a 4 mm punch biopsy of the affected skin, and the slices were stained with haematoxylin-eosin and Giemsa.ResultsThe dermatoscopy of the 5 patients showed a retiform vascular pattern with surrounding and crossing yellow spots corresponding to the follicular sebaceous glands, with few hairs. The skin around the lesion did not show any of these changes. In all patients, biopsy with haematoxylin-eosin corroborated the diagnosis of mastocytosis type TMEP. The location of the disease in the 5 patients was in the neck and V of the neckline.ConclusionsDermatoscopy helps in the diagnosis of TMEP by demonstrating that the retiform telangiectatic vascular pattern is a constant finding in all affected patients, and this is supported by the dermoscopic-histological findings. It also makes it possible to differentiate with other erythematous skin disease, and with other disorders that dermatoscopically exhibit retiform patterns.     

我国东部地区结节性痒疹患者中医体质类型分布规律

目的探讨我国东部地区结节性痒疹患者中医体质类型的分布特点。方法采用病例对照设计方法,选取120例结节性痒疹患者作为病例组,120例健康体检者作为对照组,参照《中医体质分类与判定表》进行中医体质类型调查,分析其分布规律。结果结节性痒疹患者年龄(41.58±16.27)岁,性别男女比例约1∶1.2,体质类型分布前四位的是湿热质23例、血瘀质20例、气郁质19例、特禀质13例;健康体检者体质类型分布前四位的是平和质33例、气虚质19例、阳虚质14例、痰湿质13例;与对照组相比,病例组偏颇体质明显增多(P<0.01),2组体质构成比亦有显著性差异(P<0.01),其中湿热质、气郁质、血瘀质、特禀质较对照组转化分增加(P<0.05)。结论结节性痒疹的发病与湿热质、血瘀质、气郁质、特禀质偏颇体质类型密切相关。     

从肝脾论治成年女性特应性皮炎

目的:特应性皮炎的发病及治疗存在很大的异质性,在治疗方面特别强调个体化治疗,本文主要总结成年女性特应性皮炎的治疗思路和方法。方法:基于肝脾两脏的生理、病理及成年女性特应性皮炎的临床表现,深入分析其病因病机及治疗方法。结果:女性成年特应性皮炎患者常肝脾同病,肝郁脾虚湿蕴和肝郁脾虚血弱是成年女性特应性皮炎的常见证型,临床可采用疏肝健脾祛湿法和疏肝健脾养血法进行治疗。典型病例中采用肝脾同调法不但可以改善患者的皮疹,也可有效缓解瘙痒和不良情绪。结论:肝脾同调法是治疗成年女性特应性皮炎的有效方法。