Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS. More hyporeactivity symptoms and less hyperreactivity and sensory seeking behaviour are seen, particularly in the auditory domain. Hypersensitivity to touch, possible overheating or turning red easily and reduced pain response are often seen.In this paper the current literature on sensory functioning in PMS is reviewed and recommendations for caregivers, based on consensus within the European PMS consortium, are given.     

The impact of COVID-19 on liver injury in various age

The coronavirus disease 2019 (COVID-19) disease was first detected in December 2019 in Wuhan, China. This disease is currently one of the most important global health problems. The novel coronavirus COVID-19 is a respiratory illness, that has caused a deadly pandemic that is spreading rapidly around the world. It is not only a respiratory system virus that causes severe lung disease, but also a systemic disease agent that can affect all systems. People with COVID-19 disease usually have respiratory signs, however, the liver disorder is not an uncommon presentation. In addition, many studies around the world have revealed that the liver is injured to various degrees in patients with severe acute respiratory syndrome coronavirus 2 disease. This review mainly focuses on the impact of COVID-19 on Liver Injury at various ages.     

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

BackgroundDiagnosis and treatment of 22q11.2 deletion syndrome (22q11.2DS) have led to improved life expectancy and achievement of adulthood. Limited data on long-term outcomes reported an increased risk of premature death for cardiovascular causes, even without congenital heart disease (CHD). The aim of this study was to assess the cardiac function in adolescents and young adults with 22q11.2DS without CHDs.MethodsA total of 32 patients (20M, 12F; mean age 26.00 ± 8.08 years) and a healthy control group underwent transthoracic echocardiography, including Tissue Doppler Imaging (TDI) and 2-dimensional Speckle Tracking Echocardiography (2D-STE).ResultsCompared to controls, 22q11.2DS patients showed a significant increase of the left ventricle (LV) diastolic and systolic diameters (p = 0.029 and p = 0.035 respectively), interventricular septum thickness (p = 0.005), LV mass index (p < 0.001) and aortic root size (p < 0.001). 2D-STE analysis revealed a significant reduction of LV global longitudinal strain (p < 0.001) in 22q11.2DS than controls. Moreover, several LV diastolic parameters were significantly different between groups.ConclusionsOur results suggest that an echocardiographic follow-up in 22q11.2DS patients without CHDs can help to identify subclinical impairment of the LV and evaluate a potential progression of aortic root dilation over time, improving outcomes, reducing long-term complications and allowing for a better prognosis.     

旋提手法治疗颈椎病研究进展

颈椎病(CS)是脊柱常见、多发疾病之一,具有发病率高,且呈年轻化发展的趋势。CS严重影响患者生活质量和心理健康,旋提手法治疗CS具有安全、有效、经济的特点。通过对筋骨理论以及旋提手法的深入挖掘,探讨在筋骨理论指导下颈椎病的发病机制以及旋提手法治疗CS的作用机制,为手法治疗CS提供新思路。     

两种促排卵方案在超重多囊卵巢综合征患者中助孕效果的比较

目的探讨拮抗剂方案和长方案对超重多囊卵巢综合征(PCOS)患者助孕结局的影响。方法回顾性分析2013年1月1日至2017年11月30日于本生殖中心初次行体外受精/卵胞浆内单精子注射(IVF/ICSI)助孕的PCOS且超重(BMI≥24 kg/m2)的356例患者临床资料,根据促排卵方案不同分为拮抗剂方案组(n=226)和长方案组(n=130),比较两组患者的基本资料、促排卵情况和临床结局,分析两组患者的中重度卵巢过度刺激综合征(OHSS)发生率、优质胚胎率、一次移植妊娠结局和累积活产率的差异。结果基本资料中,两组患者的女方年龄、BMI、基础睾酮水平差异均无统计学意义(P>0.05);与长方案组比较,拮抗剂方案组患者的基础FSH水平[(6.42±1.63)U/L vs.(6.78±1.53)U/L]显著降低(P<0.05),而窦卵泡数[(32.55±11.06)个vs.(28.02±7.09)个]显著增多(P<0.05)。促排卵情况比较中,拮抗剂方案组患者的扳机日LH和P水平以及优质胚胎率(38.04%vs.32.26%)显著高于长方案组患者(P<0.05),但E2水平及获卵数无显著性差异(P>0.05)。在临床结局比较中,两种方案的中重度OHSS发生率、因OHSS高风险取消移植周期率、一次移植妊娠结局、乐观累积活产率以及保守累积活产率差异均无统计学意义。结论对于超重PCOS患者,与长方案相比,拮抗剂方案可获得更多的优质胚胎,但两种方案的临床结局相当。     

基于辨证论治结合网络药理学探析六味地黄丸治疗绝经后骨质疏松症作用机制

目的 基于临床试验结合网络药理学探析六味地黄丸治疗绝经后骨质疏松症的作用机制。方法 ①将60例肾阴虚证绝经后骨质疏松症患者随机分为治疗组和对照组,两组患者在口服维生素D和钙剂的同时,治疗组口服六味地黄丸、对照组口服雷洛昔芬,治疗6个月后测定并比较两组患者腰椎（L1～4）、右侧股骨颈骨密度值、血清骨钙素(OCN)及血清抗酒石酸酸性磷酸酶-5b（TRAP-5b）水平。②依据TCMSP数据库筛选出六味地黄丸活性成分及其对应的靶点,通过GeneCards、OMIM、Drugbank 3个数据库获取绝经后骨质疏松症相关靶点,将活性成分靶点与绝经后骨质疏松症相关靶点取交集所得靶点即为六味地黄丸治疗绝经后骨质疏松症靶点。采用Cytoscape3.7.2软件构建活性成分、靶点以及蛋白间的相互作用网络,使用STRING数据库进行PPI网络分析,运用Metascape数据分析平台进行GO生物过程富集以及KEGG通路富集分析。结果 与治疗前比较两组均可提升骨密度,反映骨形成指标的OCN值明显升高,骨吸收指标的TRAP-5b值则明显降低,且治疗组优于对照组（P＜0.05）。而通过网络药理学预测显示六味地黄丸作用于绝经后骨质疏松症的活性成分有36个,位居前三位的活性成分为槲皮素、山奈酚、儿茶素,主要靶点为干扰素调节因子-1（IRF1）、抑瘤素M（OSM）、白介素6（IL-6）。GO富集分析显示,生物过程主要涉及到细胞因子介导的信号通路、细胞凋亡信号通路等;细胞组成主要包括蛋白激酶复合物、质膜蛋白复合物等;分子功能主要包括转录因子结合、核受体活性等。KEGG富集分析获取相关信号通路为JAk-STAT、Wnt及NF-κB信号通路。结论 六味地黄丸可显著增加骨密度、促进骨形成、抑制骨吸收,而其作用机制在于应用槲皮素、山奈酚、儿茶素等活性成分,以IRF1、OSM及IL-6为主要靶点,通过JAk-STAT、Wnt及NF-κB等信号通路发挥改善绝经后骨质疏松症的作用。     

A mini-incision carpal tunnel release technique to prevent pillar pain: A technical note

Pillar pain represents one of the most common complications of classic open carpal tunnel release (CTR). This complication causes a sense of discomfort worse than the compression syndrome itself. We, herein, introduce a new treatment method for CTR through a mini-incision, which allows subcutaneously cutting the transverse carpal ligament (TCL) and releasing the median nerve without neurovascular complications. This mini-incision approach can allow the direct visualization and preservation of the thenar motor branch in those rare cases where it has an aberrant origin. For the past 10 years, we have consecutively performed this technique in the surgical treatment of 318 patients with the diagnosis of primary CTS, without developing any neurovascular and tendon injuries as well as pillar pain.     

Adult congenital heart disease

Continued advances in the understanding and management of congenital heart disease (CHD) mean that over 90% of children born with CHD now survive to adulthood. This in turn results in greater numbers of adult patients presenting for medical and surgical care at non-specialist centres. A simple classification of adult congenital heart disease (ACHD) according to complexity can help clinicians to understand the implications of the specific cardiac anomaly encountered. Issues relating to the conduct of anaesthesia in ACHD patient include careful attention to euvolaemia, the preservation of sinus rhythm and cardiac output, and in complex patients, manipulating the balance between systemic and pulmonary blood flows. Additionally, effective antibiotic prophylaxis and the prevention of either excessive bleeding or thromboembolism are vitally important. It should not be forgotten that although many patients with simple or repaired cardiac lesions may be very well managed in a non-specialist unit, those with Eisenmenger’s syndrome or severe pulmonary hypertension have an extremely high risk of death in the perioperative period, and in all but life-threatening situations should always be managed within specialist centres.