Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found in 144 cTTP patients reported in the literature and examined associations of several mutation characteristics, including N‐terminal proximity, the evolutionary conservation of the affected amino acid position, as well as amino acid charge/phosphorylation and genetic codon usage to disease phenotype. Structure‐altering mutations were examined for their impact on ADAMTS13 function based on existing ADAMTS13 crystallographic data (AA 77‐685). Our in silico data indicate that: (i) The position of the mutation in the N‐ or C‐terminus, (ii) evolutionary conservation and (iii) codon usage of the affected mutation position are associated with disease parameters, such as age of onset, organ damage and fresh frozen plasma prophylaxis. In conclusion, the usage of multiple in silico tools presents a promising strategy in refining predictions for the diverse presentation of cTTP. Enhancing our utilization of in silico tools to find genotype‐phenotype associations will create better‐tailored approaches for individual patient treatment.     

外科手术制备先天性心脏病动物模型的研究进展

小儿先天性心脏病研究领域中动物模型的制备非常困难，目前尚无公认的方法，本文从外科手术制作方法的角度，综述了近年的研究进展，探讨了多种术式在临床应用的前景，为深入开展先天性心脏病发病机制，病理生理变化及治疗的分子，基因水平研究提供基础。     

Plantar fasciitis and calcaneal spur formation are associated with abductor digiti minimi atrophy on MRI of the foot

Objective To determine the association of atrophy of the abductor digiti minimi muscle (ADMA), an MRI manifestation of chronic compression of the inferior calcaneal nerve suggesting the clinical diagnosis of Baxter’s neuropathy, with MRI markers of potential etiologies, including calcaneal spur formation, plantar fasciitis, calcaneal edema, Achilles tendinosis and posterior tibial tendon dysfunction (PTTD). Materials and methods Prevalence of calcaneal spur formation, plantar fasciitis, calcaneal edema, Achilles tendinosis and PTTD was assessed retrospectively on 100 MRI studies with ADMA and 100 MRI studies without ADMA. Patients ranged in age from 10–92 years. Pearson chi-square analyses and Fisher’s exact test were used to compare prevalence of the above findings in patients with and without ADMA. Logistic regression was used to determine which variables were significantly associated with ADMA. Results Among patients with ADMA, there was significantly greater age (57.2 years vs 40.8 years, p < 0.001), presence of Achilles tendinosis (22.0% vs 3.0%, P < 0.001), calcaneal edema (15.0% vs 3.0%, P = 0.005), calcaneal spur (48.0% vs 7.0%, P < 0.001), plantar fasciitis (52.5% vs 11.0%, P < 0.001), and PTTD (32.0% vs 11.0%, P < 0.001). After multivariate logistic regression analysis, only age [odds ratio (OR) 1.06, 95% confidence interval (CI) 1.03, 1.09], calcaneal spur (OR 3.60, 95% CI 1.28, 10.17), and plantar fasciitis (OR 3.35, 95% CI 1.31, 8.56) remained significant. Conclusion Advancing age, calcaneal spur, and plantar fasciitis are significantly associated with ADMA. Their high odds ratios support the notion of a possible etiologic role for calcaneal spur and plantar fasciitis in the progression to Baxter’s neuropathy.     

Reproducibility of MRI measurements of right ventricular size and function in patients with normal and dilated ventricles

PURPOSE: To determine the inter- and intraobserver reproducibility of cardiac magnetic resonance (CMR)-derived measurements of right ventricular (RV) mass, volume, and function in patients with normal and dilated ventricles. MATERIALS AND METHODS: CMR studies of 60 patients in three groups were studied: a normal RV group (N = 20) and two groups with RV dilation-atrial septal defect (ASD) (N = 20) and repaired tetralogy of Fallot (TOF) (N = 20). Two independent observers analyzed each study on two separate occasions. Inter- and intraobserver reproducibility of biventricular mass, volume, ejection fraction (EF), and stroke volume (SV) measurements were calculated. RESULTS: High intraclass correlation coefficients (ICC) were found for interobserver (ICC = 0.94-0.99) and intraobserver (ICC = 0.96-0.99) comparisons of RV and left ventricular (LV) mass, volume, and SV measurements. RV and LV EF measurements were less reproducible (ICC = 0.79-0.87). RV mass measurements were significantly less correlated than the respective LV measurements. Small but statistically significant differences in correlation were noted in RV measurements across groups. CONCLUSION: Except for RV mass, inter- and intraobserver reproducibility of RV size and function measurements is high and generally comparable to that in the LV in patients with both normal and dilated RV.     

L-LWiDose4技术在新生儿先天性心脏病CT血管成像中的临床应用

目的：探讨低X线辐射剂量及低碘浓度等渗对比剂联合iDose4迭代重建技术（L-LWiDose4）在新生儿先天性心脏病CT血管成像（CTA）中的可行性。方法：前瞻性收集2015年1月至2018年3月温州医科大学附属第二医院育英儿童医院新生儿科需行心脏CTA检查的连续102例患者,随机分为2组,采用不同的扫描方案：常规组（A组）53例,采用100 kVp、100 mAs、碘海醇（350 mg I/mL）,重建方式为滤波反投影（FBP）算法;实验组49例,采用80 kVp、80 mAs、碘克沙醇（270 mg I/mL）,根据iDose4迭代算法可以得到iDose4-1～iDose4-7 7组图像,选取iDose4-2～iDose4-6 5组图像,分别记为B组、C组、D组、E组、F组。依据新生儿体质量采取不同的对比剂注射剂量并计算碘摄入量。测量主动脉弓、气管分叉水平降主动脉、肺动脉干及主动脉弓层面两侧胸大肌和竖脊肌CT值,测量气管分叉层面周围空气CT值的标准差（SD）,记为背景噪声,计算信噪比（SNR）和对比噪声比（CNR）,并对图像质量进行主观评价。记录容积CT剂量指数（CTDIvol）和剂量长度乘积（DLP）,并计算有效剂量（ED）和体型特异性剂量评估（SSDE）。以手术或心导管造影为“金标准”,统计并比较各组CTA检查的诊断符合率。结果：实验组CTDIvol、SSDE、DLP、ED较常规组分别降低了57.08%、56.62%、58.31%、56.97%（P＜0.05）。常规组、实验组对比剂碘摄入量分别为（1.83±1.27）g和（1.61± 1.36）g,差异有统计学意义（P＜0.05）。B组、F组图像客观评价不及A组、C组、D组、E组（P＜0.05）。A组、D组、E组图像主观评价差异无统计学意义。常规组、实验各组诊断符合率分别为98.6%、81.6%、87.7%、97.9%、97.9%、96.9%,差异无统计学意义（P＞0.05）。结论：80 kVp、80 mAs、碘克沙醇（270 mg I/mL）联合iDose4迭代重建技术新生儿先天性心脏病CTA检查,在降低患者的电离辐射剂量和对比剂碘剂量的同时,其图像质量能够满足临床诊断需要。     

蛙式架外固定治疗先天性髋关节脱位

目的　观察自行设计的蛙式架外固定治疗先天性髋关节脱位的疗效。方法　根据患儿脱位程度、脱位方向及年龄给予充分牵引 ,手法闭合复位 ,依据髋臼指数大小穿戴不同的蛙式架。结果　6 8例患儿经 8个月～ 4年观察随访 ,6 6例髋关节功能完全恢复 ,髋臼指数在正常范围 ,股骨头位于髋臼内 ,股骨头骨化核发育良好。 1例髋臼指数约 70°,骨化核明显较对侧小 ;1例发生后脱位。结论　蛙式架外固定治疗 3岁以内的先天性髋关节脱位操作简单 ,固定可靠 ,护理方便 ,疗效满意。     

巨指症9例治疗体会

目的 介绍巨指症的手术治疗与疗效。方法 对9例巨指症病人分别采用巨指修剪术及神经松解术、巨指截指术、巨指部分切除与足趾移植再造术。结果 术后经0．5－15年（平均5年9个月）的随访，2例巨拇指修剪术术后外形仍显臃肿，功能不理想，其余7例术后功能与外形均满意。结论 根据巨指发生的指别与指数，巨指增生的程度，尤其是骨、关节以及神经增生程度，选择最佳的手术方案。     

134例Fontan手术后早期处理经验

目的 总结Fontan手术后早期处理的经验。方法 134例病人，年龄2-34岁，体重12-66kg。施行右房与肺动脉连接72例，右房与右室连接4例。全腔静脉与肺动脉连接58例，术后及时补充胶体溶液，维持适当的呼吸性碱中毒，应用正性肌力药物及降低肺血管阻力药物，早期应用华法林抗凝。结果 术后合并低心输出量综合征40例（29.9%)。房性心动过速33例（24.6%)，非阵发性交界性心动过速19例（14.2%)。低氧血症26例（19.4%)，脑部并发症20例（14.9%)。早期死亡24例，死亡率17.9%。结论 术前严格掌握手术适应证，术中保证吻合口足够大，必要时行开窗术，术后维持足够前负荷，积极采取有效降低肺循环阻力及降低左心房压力的治疗措施，及时纠治低心输出量综合征，心律失常，低氧血症等并发症，早期应用抗凝治疗，可有效提高手术成功率。     

近踝足部肌腱与骨裸露创面显微外科修复方法的分析

目的评价近踝足部肌腱与骨外露创面修复的简单实用手术方法。方法总结自1990年1月～2002年1月应用13种显微外科皮瓣修复治疗128例近踝足部肌腱与骨外露创面病人,取得良好效果。手术时间:急诊一期修复53例,亚急诊修复28例,晚期修复47例。结果吻合皮瓣静脉修复皮肤逆行撕脱伤26例,完全成活19例,7例部分坏死;游离皮瓣移植19例,13例完全成活,皮瓣坏死3例,皮瓣部分坏死并感染3例;带蒂皮瓣转移83例,其中带腓肠神经营养血管皮瓣58例,该组所有皮瓣无1例完全坏死,5例术后出现静脉回流障碍,松解蒂部血运恢复,4例皮缘坏死,经换药愈合;其余带蒂皮瓣25例,成活21例,部分皮缘坏死3例,感染完全坏死1例。结论带腓肠神经营养血管皮瓣,切取简单,不牺牲知名的血管,对供区侧肢体供血影响小,设计灵活,能为磨擦受压创面提供良好的覆盖,基本能够满足近踝足部肌腱与骨外露创面修复需要。     

成人先天性巨输尿管症37例诊疗分析

目的：探讨成人先天性巨输尿管症（CM）的诊治方法.方法：回顾性分析37例成人CM的临床资料：男18例,女19例.左侧18例,右侧10例,双侧9例.超声检查、静脉尿路造影（IVU）检查提示输尿管全段扩张伴肾盂积水22例,输尿管下段扩张9例.IVU不显影或显影不清13例;同位素肾动态显像检查提示患肾不同程度损害.手术治疗34例,其中行肾输尿管切除术2例,输尿管膀胱再植术32例.间断性双J管置入1例,保守观察2例.结果：随访32例,随访时间4个月～20年.患侧肾输尿管积水减轻29例,无明显变化3例.结论：成人CM的诊断主要依据影像学检查.治疗原则为解除梗阻、尽量保留息肾功能,应根据输尿管扩张程度选择输尿管折叠或裁剪加输尿管膀胱再植术,吻合方法推荐Lich-Gregoir术式;肾功能良好、无明显症状者可保守治疗.