保留骨骺的关节融合术在手部先天畸形矫治中的应用

对掌指关节和指间关节进行保留骨骺的关节融合术治疗手部先天畸形，方法简单，疗效可靠。本文总结在日本名古屋大学进修期间5例患者的随访资料，以期将这一方法介绍给国内的同道，为今后此类疾病的治疗提供一种新的选择。     

围产期心肌病诊治分析

目的通过分析围产期心肌病(PPCM)的临床特点,寻找帮助早期诊断的临床征象,并为临床确立治疗方案和选择分娩时机提供依据。方法回顾性分析北京协和医院确诊的27例PPCM患者的临床表现、诊断、治疗及预后。结果PPCM是妊娠最后1个月或产后5个月内发病,不明原因的心脏扩大和心功能衰竭,符合扩张型心肌病的诊断标准。我院分娩的孕产妇中PPCM发病率约为1/1 630(0.061%)。患者表现出心功能不全的症状及体征,超声心动图显示左心室射血分数显著减低,为(35.8±10.0)%,可伴有心电图异常和血清B型脑钠肽升高,还可合并妊娠期高血压等疾病。经积极地抗心力衰竭治疗,心功能多可改善。产前发病者早产率约为77.3%,终止妊娠以剖宫产为主,胎儿可出现胎死宫内、新生儿死亡、重度窒息等。结论 PPCM患者早期临床表现多不典型,超声心动图是重要的诊断依据。经及时正规的药物治疗和终止妊娠,PPCM患者心功能多可改善,孕产妇总体预后相对较好,但胎儿或新生儿不良结局风险高,故建议及时终止妊娠。     

手部先天畸形的指甲形态学改变及其治疗的研究进展

1解剖学基础指甲的解剖组织学基础属扁平有弹性的角质化表皮,呈半透明长方形硬板状,覆盖于手指末端背面,有支持作用,其外露部分与下层皮肤相连称为甲体,甲体远端与皮肤脱离部分称为自由缘,近端隐蔽于皮肤下的部分称为甲根。甲体基部有半月形的区域,色白称之为甲半月。掩盖甲周的皮肤皱襞称为甲廓或甲襞,覆盖甲根的皱襞称为上甲皮或甲皱襞,     

围产期过敏性休克病例分析及文献复习

过敏反应是一种急性、可能威胁生命的累及多系统的综合征,围产期的过敏反应比较少见,但是如果一旦发生,而临床医生没有快速识别、恰当处理,会导致母亲的低血压和低血氧,严重的并发症及新生儿后遗症,甚至母胎死亡,产科医护人员都要了解围产期过敏的识别与处理,引起重视.本文介绍两例围产期过敏性休克的病例,并复习文献进行探讨.     

四肢先天畸形122例

四肢先天畸形临床上并不少见。1999-2007年我科共收治四肢先天畸形患者122例。承担国家民政部启动的明天计划工程，专门为残疾孤儿免费施行矫治手术。通过组织下乡筛选，共收治该类小患者81例。期间还有常诊收治的四肢先天畸形患者41例，合计122例。通过手术矫正畸形、重建功能。术后选用支具及康复训练等治疗．取得了较好的效果．现将临床资料、手术及术后恢复情况报告如下。     

气膀胱腹腔镜在治疗膀胱输尿管连接部先天畸形中的应用

目的探讨应用气膀胱腹腔镜治疗膀胱输尿管连接部先天畸形的效果。方法18例患儿(男11例,女7例)共22根输尿管。年龄3个月~7岁,平均3.6岁。膀胱输尿管反流9例(其中双侧反流4例),膀胱憩室伴输尿管口狭窄2例,输尿管口狭窄伴同侧肾积水7例。经球囊尿管注入CO2气体,以16mmHg的压力建立气膀胱。在脐下及其两侧放置trocar,用丝线与膀胱及腹壁固定。分别导入膀胱镜及操作器械,行输尿管狭窄段切除及膀胱输尿管移植,术后留置导尿。结果1例因输尿管回缩至膀胱外而中转开放,余17例均获成功。手术时间单侧13例平均130min(110~145min),双侧4例平均242min(225~250min)。住院9~12d。术后随访6个月~5年,平均3.8年。排尿性膀胱尿道造影(MCU)检查,无输尿管反流。1例术后3个月轻度尿道感染,行包皮环切术后无复发。结论在熟练掌握了腹腔镜技术后,气膀胱腹腔镜技术治疗膀胱输尿管连接部先天畸形,可以取得良好效果。     

围产期抑郁的研究进展

围产期抑郁是女性围产期常见的精神障碍性疾病,在目前社会和医疗环境中,围产期抑郁尚未得到充分的认识和治疗。围产期抑郁不利于女性身心健康,也会对其子女认知和行为发育产生不利影响。围产期抑郁作为女性围产期自杀的首要病因,及早识别和治疗会降低围产期抑郁女性自杀率。本文就治疗和预防围产期抑郁的最新进展作一综述,在药物疗法和心理疗法作为常规治疗方法的同时,激素治疗、氯胺酮、分娩镇痛等新兴方法也为围产期抑郁的防治提供了新选择。     

肢体延长的研究进展

对肢体延长技术的研究从19世纪就已经开始，经过不断发展，目前被广泛地应用于临床以治疗创伤、骨感染、肿瘤、先天性畸形等导致的肢体不等长疾病。由于在骨牵引延长的同时，还涉及肢体神经、血管、肌肉及关节等多种组织，因此肢体延长术是涉及生物学、生物力学、病理、生理等学科的一种综合性技术。根据目前国内外对骨延长术各方面问题的实验研究和进展作出如下综述。     

肢体延长的新进展与新概念

肢体延长总的进展已有报道,根据生物力学原理,运用骨端多平面的坚强固定,患肢早期功能锻炼和延长速度为1mm/日的逐渐延长法,我们对下肢不等长的320例患者施行干骺端牵伸和干骺端切骨延长术,纯延长长度为3～26cm.延长率为原骨长的9～85.3%,均无神经血管并发症发生,另就不同的延长速度对肢体全部组织的影响,对117只羊和115只兔进行研究,发现最适合肢体结构和功能恢复的速度是1mm/日,由此得出结论,适当的延长部位,缓慢的延长速度,稳固的外固定和早期功能锻炼是大幅度肢体延长术的要素。     

围产期并发下肢深静脉血栓的治疗

对32例围产期并发下肢深静脉血栓患者进行治疗分析，病程在1周内者行腔内手术治疗，即滤器置入加取栓管取血栓，尽可能取出新鲜血栓，同时预防肺栓塞。病程>1周者行非手术治疗，即抗凝加溶栓药物；通过足背静脉注射尿激酶，以提高局部药物浓度。二者均取得良好效果。     

Impact of prenatal evaluation and protocol-based perinatal management on congenital diaphragmatic hernia outcomes

Background/Purpose

Although intuitive, the benefit of prenatal evaluation and multidisciplinary perinatal management for fetuses with congenital diaphragmatic hernia (CDH) is unproven. We compared the outcome of prenatally diagnosed patients with CDH whose perinatal management was by a predefined protocol with those who were diagnosed postnatally and managed by the same team. We hypothesized that patients with CDH undergoing prenatal evaluation with perinatal planning would demonstrate improved outcome.

Methods

Retrospective chart review of all patients with Bochdalek-type CDH at a single institution between 2004 and 2009 was performed. Patients were stratified by history of perinatal management, and data were analyzed by Fisher's Exact test and Student's t test.

Results

Of 116 patients, 71 fetuses presented in the prenatal period and delivered at our facility (PRE), whereas 45 infants were either outborn or postnatally diagnosed (POST). There were more high-risk patients in the PRE group compared with the POST group as indicated by higher rates of liver herniation (63% vs 36%, P = .03), need for patch repair (57% vs 27%, P = .004), and extracorporeal membrane oxygenation use (35% vs 18%, P = .05). Despite differences in risk, there was no difference in 6-month survival between groups (73% vs 73%).

Conclusions

Patients with CDH diagnosed prenatally are a higher risk group. Prenatal evaluation and multidisciplinary perinatal management allows for improved outcome in these patients.     

Congenital heart defect with associated malformations in children

Background

Children with multisystem involvement including congenital heart defect (CHD) are a very salient problem. The purpose of this study was to evaluate the incidence of CHD associated with malformations of other systems and to assess the modalities of treatment and perioperative mortality among patients referred to the department of pediatric cardiac surgery.

Methods

The medical records of 1856 children were reviewed retrospectively from 1997 to 2002 to establish CHD and types of associated malformations. The connections between CHD and other lesions were investigated. Furthermore, the influence of patient and perioperative variables on mortality risk was scrutinized. Univariate and multivariate analyses were used.

Results

Eighty-four children (4.53%) had CHD and associated malformations. The malformations of digestive (35.7%), urinary (22.4%), and nervous (14.3%) systems were the most frequently observed associated defects. No relation was found between CHD and concomitant lesions. The results of multivariate logistic regression showed significant influence of patient age, primary cardiac procedure, and CHD type on mortality (ca 19%) in children with multiorgan lesions.

Conclusions

The treatment of children with CHD and associated multiple lesions is connected with higher mortality risk. The following factors: younger age, urgency of surgical procedure, and primary surgical procedure had negative impact on patient's outcome. However, these risks in certain cases are inevitable. The cardiac procedure preceding the surgical operation may improve the overall effect of treatment because of circulatory stabilization, provided that the condition of the patient does not preclude any intervention at all.     

Congenital arteriovenous malformations: A follow-up of treatment

Due to the rarity of arteriovenous malformations (AVMs), there is a paucity of information on the outcomes of various treatments. Presently, the mainstays of treatment of an AVM are embolization, surgical excision or a combination of both.A retrospective study of 26 patients with AVMs treated at The Hospital for Sick Children, Toronto, Ontario between 1985 and 1995 was performed. The treatment strategies and patient outcomes were compared in terms of efficacy, complications and the response of patients and their families to their overall treatment.The overall findings showed that embolization alone was effective in controlling symptoms, but may be associated with an increased AVM size. A partial excision of an AVM does not appear to exacerbate recurrence, as has been previously reported. In fact, even after what appears to be a complete excision of the AVM, recurrence may still occur. Complications from a surgical excision of the AVM are more frequent but less devastating than complications from embolization of the lesion. The overall patient or parent satisfaction with treatment was high with respect to improvement in outcome.It is expected that with an increasing understanding of vascular malformations, and the evolution of interventional radiological techniques, complications will decrease and results as a whole will improve.     

Decision-Making Criteria for Observational Management of Congenital Pulmonary Airway Malformations (CPAMs)

Purpose

The purpose of this study was to determine practice patterns of Canadian surgeons managing congenital pulmonary airway malformations (CPAMs) and factors influencing practice.

Maternal risk factors and perinatal characteristics of anorectal malformations

Purpose

The aim of this study was to assess maternal risk factors and perinatal characteristics of patients with anorectal malformations (ARM) in Sweden.

经导管丝线线段混合明胶海绵颗粒栓塞治疗肢体高流量动静脉畸形的临床观察

目的 探讨丝线线段混合明胶海绵颗粒血管内栓塞治疗肢体高流量动静脉畸形的效果.方法 对4例肢体高流量动静脉畸形患者,在数字减影血管造影下超选择性栓塞动静脉畸形病变血管.结果 超选择性栓塞动静脉畸形病变血管术后局部包快缩小,血管博动及病变区疼痛消失.术后追踪随访11～92个月,除1例25个月有复发外,其余3例均无复发.结论 经导管丝线线段混合明胶海绵颗粒栓塞治疗肢体高流量动静脉畸形安全有效.     

Hypermethylation of SHH in the pathogenesis of congenital anorectal malformations

Objective

This study sought to examine promoter methylation and expression of the identified sonic hedgehog (SHH) gene in terminal rectal tissues of children with congenital anorectal malformations (ARMs).

Methods

Tissue samples from the terminal rectum of pediatric patients with ARMs (five cases each of high and intermediate malformation — two cases of rectovesical fistula, two cases of rectourethral prostatic fistula, one case of cloaca with > 3 cm common channel, four cases of rectourethral bulbar fistula and one case of imperforate anus without fistula, respectively, and ten cases of low malformation — five cases of perineal fistula and five cases of vestibular fistula, respectively), and patients with non-gastrointestinal tract malformation (six cases, anal fistula) were collected and divided into three groups: high-intermediate ARM (ARMhi-int), low ARM (ARMlo), and control (Cont.). Real-time RT-PCR was used to detect mRNA expression levels of the verified differentially methylated gene SHH, and bisulfite genomic sequencing was performed to evaluate DNA methylation in the SHH promoter region.

Results

The average methylation levels of the SHH promoter were significantly higher in ARMhi-int (0.850 ± 0.030, P = 0.0036) and ARMlo (0.540 ± 0.053, P = 0.0087) groups than in Cont. group (0.280 ± 0.032). SHH mRNA expression levels were lower in ARMhi-int (0.340 ± 0.015, P = 0.0065) and ARMlo (0.530 ± 0.042, P = 0.0156) groups than in Cont. group (0.870 ± 0.046). The average methylation levels of the SHH promoter were higher in ARMhi-int group than in ARMlo group (0.850 ± 0.030 vs. 0.540 ± 0.053, P = 0.0095), while SHH expression was significantly reduced in ARMhi-int group compared to ARMlo group (0.340 ± 0.15 vs. 0.530 ± 0.042, P = 0.0252). The methylation levels of the SHH promoter in ARMhi-int group were negatively correlated with SHH gene expression (r = − 0.89, P < 0.01).

Conclusions

The SHH gene, which plays a major role in the development of the anorectum and enteric nervous system, is hypermethylated at its promoter, and this is correlated with low levels of SHH gene expression. This epigenetic modification may therefore be responsible for the observed changes in SHH expression, which could in turn underlie the pathogenesis of congenital ARMs.     

Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays

Brachydactyly, or shortening of the digits, is due to the abnormal development of phalanges, metacarpals and/or metatarsals. This congenital malformation is common, easily detectable clinically but often requires additional radiological exploration. Radiographs are essential to characterize the type of brachydactyly and to show the location of the bone shortening, as well as any associated malformation. This article reviews the radiological findings for isolated brachydactylies (according to the types classified by Bell, and Temtamy and McKusick) and for brachydactylies that are part of complex multisystem malformation syndromes. If warranted by the clinical and radiological examinations, a genetic analysis (molecular and/or cytogenetic) can confirm the etiologic diagnosis.     

Upper extremity limb loss: Functional restoration from prosthesis and targeted reinnervation to transplantation

For several decades, prosthetic use was the only option to restore function after upper extremity amputation. Recent years have seen advances in the field of prosthetics. Such advances include prosthetic design and function, activity-specific devices, improved aesthetics, and adjunctive surgical procedures to improve both form and function. Targeted reinnervation is one exciting advance that allows for more facile and more intuitive function with prosthetics following proximal amputation. Another remarkable advance that holds great promise in nearly all fields of medicine is the transplantation of composite tissue, such as hand and face transplantation. Hand transplantation holds promise as the ultimate restorative procedure that can provide form, function, and sensation. However, this procedure still comes with a substantial cost in terms of the rehabilitation and toxic immunosuppression and should be limited to carefully selected patients who have failed prosthetic reconstruction. Hand transplantation and prosthetic reconstruction should not be viewed as competing options. Rather, they are two treatment options with different risk/benefit profiles and different indications and, hence vastly different implications.     

Congenital pulmonary malformations associated with esophageal duplication and teratoma: prenatal to postnatal management

A unique case is reported of bronchopulmonary foregut malformation with associated benign teratoma. Antenatal Doppler ultrasound scan findings and postnatal management are described. We discuss the appropriate radiologic investigations and the necessity for surgical intervention. The possible embryogenesis is hypothesized.