Identifying key genes associated with Hirschsprung’s disease based on bioinformatics analysis of RNA-sequencing data

Background:Hirschsprung's disease (HSCR) is a type of megacolon induced by deficiency or dysfunction of ganglion cells in the distal intestine and is associated with developmental disorders of the enteric nervous system.To explore the mechanisms of HSCR,we analyzed the RNA-sequencing data of the expansion and the narrow segments of colon tissues separated from children with HSCR.Methods:RNA-sequencing of the expansion segments and the narrow segments of colon tissues isolated from children with HSCR was performed.After differentially expressed genes (DEGs) were identified using the edgeR package in R,functional and pathway enrichment analyses of DEGs were carried out using DAVID software.To further screen the key genes,protein-protein interaction (PPI) network and module analyses were conducted separately using Cytoscape software.Results:A total of 117 DEGs were identified in the expansion segment samples,including 47 up-regulated and 70 down-regulated genes.Functional enrichment analysis suggested that FOS and DUSP1 were implicated in response to endogenous stimulus.In the PPI network analysis,FOS (degree=20),EGR1 (degree=16),ATF3 (degree=9),NOS1 (degree=8),CCL5 (degree=8),DUSP1 (degree=7),CXCL3 (degree=6),VIP (degree=6),FOSB (degree=5),and NOS2 (degree=4) had higher degrees,which could interact with other genes.In addition,two significant modules (module 1 and module 2) were identified from the PPI network.Conclusion:Several genes (including FOS,EGR1,ATF3,NOS1,CCL5,DUSP1,CXCL3,VIP,FOSB,and NOS2) might be involved in the development of HSCR through their effect on the nervous system.     

儿童骨骼局灶性纤维软骨发育不良的诊断与治疗

目的 描述儿童骨骼局灶性纤维软骨发育不良(FFCD)的临床与X线特征,探讨其自然病程与治疗方法的选择.方法 2004年至2009年期间收治的4例儿童FFCD,男3例,女1例,发病年龄8个月～1岁9个月,就诊年龄为1岁～2岁1个月;病变位于胫骨近端2例、股骨远端1例、尺骨远端1例.4例均手术治疗.结果 2例(股骨与尺骨病变)经手术病灶切除、截骨矫形或骨痂牵伸延长,经过18个月和66个月随访观察,发现成角畸形或短缩畸形得到完全矫正;另2例胫骨近端病变因成角畸形＞20°,患儿年龄≤2岁,采取单纯病灶切除,术后6个月和12个月的X线片,显示其成角畸形呈现进行性减少,但仍需继续观察.4例病理结果均为FFCD.结论 儿童胫骨FFCD具有自然矫正的潜力,特别是2岁以下者允许临床观察,但股骨、尺骨和肱骨FFCD因自然矫正潜力很小,常需要手术治疗.

Abstract：

Objective To review the clinic presentation, radiographic and MRI appearance of Focal Fibrocartilaginous Dysplasia(FFCD)in children. Methods We retrospectively assessed the radiological and MRI characteristics of FFCD in 4 children. The operative indications and methods were evaluated. Results We reported 4 children with FFCD which have been confirmed by pathology, of which distal femur was involved in one case and distal ulna in one child and proximal tibia in the remaining two infants. The cases involved in distal ulna and distal femur were treated with excision of the lesion, correction osteotomy or femur lengthening with Ilizarov techenique. The two infants with proximal tibia involvement underwent simple excision of the lesion in order to accelerate the correction and to confirm the diagnosis histologically, The. results of the two patients involved distal ulna and distal femur were satisfactory. The angular deformity were completely corrected and normal length was restored at follow-up 66 months and 18 months post-operatively. The proximal tibia vara of FFCD in two infant children improved progressively after 6 and 12 months operatively. Conclusions Focal fibrocartilaginous dysplasia (FFCD) is a rare benign condition inducing bowing deformity of the long bones and the lesions often involved proximal tibia,distal femur and distal ulna. Radiologically, the lesions is characterized by a lucent defect with marginal sclerosis in the medial metepysis of the long bone. The entity represents a bony anchor preventing natural sliding of the periosteum during growth. Treatment indications result from this concept,of which the lesions with a metaphyseal-diaphyseal angle less than 20 degrees,observation is needed for 6 to 12 months; if the deformity improves, the tether likely broke spontaneously, and no treatment is required; if the deformity worsens,, curettage or corrective osteotomy will be needed.     

Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China

Background Fibrodysplasia ossificans progressiva(FOP)is a rare and disabling heritable connective tissue disease that is difficult to treat.This study seeks to explore the clinical characteristics,clinical manifestations,treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment.Methods Twenty-six children with FOP were retrospectively analyzed in terms of their onset,clinical manifestations,auxiliary examinations and treatment.Results Among the 26 cases,the youngest age of manifestation of mass was 8 days after birth,and the average age was 3 years and 2 months.The peak age was 2-5 years old.Inflammatory mass and toe-finger deformity are the main early clinical manifestations of the disease.These inflammatory masses often lead to hard osteogenic deposits that initially mainly involve the central axis,such as the neck(22/26,84.6%),back(20/26,76.9%),and head(13/26,50%).Toe-finger deformity mainly manifests as symmetrical great toe deformity,or short and deformed thumb and little finger.The diagnosis of FOP requires typical clinical manifestations or ACVR1 gene detection.The main therapeutic drugs for FOP include glucocorticoids and non-steroidal anti-inflammatory drugs.Although not compliant with the recommended medical management of FOP,in our clinical practice children with uncontrollable illness could be treated using a variety of immunosuppressive agents in combination.Conclusions FOP is a rare autosomal dominant heritable disease.The main clinical manifestations observed in this study were recurrent inflammatory mass and toe-finger deformity.If the diagnosis and treatment are not performed in a timely manner,serious complications are likely to affect the prognosis.Therefore,early diagnosis and active treatment should be performed.     

肠折叠术在肠闭锁手术中的应用

Objective To evaluate the efficacy of bowel plication as a part the surgical treatment of intestinal atresia (IA) in childrea Methods Between April 2005 and April 2009,68 neonates with IA underwent surgical treatment in this center. According to the surgical procedures the patients underwent, the 68 neonates were divided into bowel plication group and control group. The 38 children underwent bowel plication after atretic segments resection and primary anastomosis. The 30 children of the control group underwent tapering enteroplasty after atretic segments resection. Data including operation procedures,ages,birth weight,concomitant diseases,age at surgery, length of hospital stay, length of total parenteral nutrition (TPN),postoperative intestinal function recovery (the time of the first oral feeding and the oral feeding volume reached 40 ml/kg/3h),growth and development,complications and reoperations were retrospectively analyzed. Results No differences of ages, birth weight, age at operation, and concomitant diseases were found between the two groups. The time of operation and hospital stay of the bowel plication group were significantly shorter than those of the control group [(1.21±0.24)h,(12.2±2.5)d vs. (1. 77 ± 0. 31)h, (17. 3 ± 3. 2)d,P＜0. 010]. The time of the first oral feeding, the time when oral feeding volume reached 40 ml/kg/3h,and TPN length of the bowel plication group were also shorter than those of control group [(8 ± 2. 3)d, (13. 1 ± 1. 9)d, (8. 3 ± 1.8)d vs (12. 9 ±1. 7)d,(18. 7 ± 1. l)d,(13. 6 ± 2. 5)d,P＜0. 05]. In the bowel plication group, 1 (2. 6%) underwent reoperation for adhesive intestinal obstruction half a year after the initial surgery. However,in the control group,6 (20%) included 3 underwent reoperation for intestinal obstruction,2 for anastomotic leakage and 1 for adhesive intestinal obstruction. The patients were followed up for an average period of 2. 7 years (6 months-5 years). All infants thrived. Conclusions The additional bowel plication after atretic segment resection and primary anastomosis improves the clinical outcomes for children with intestinal atresia.     

Clinical and radiological characteristics of congenital spinal deformity associated with anorectal malformationCSCD

Objective To explore the clinical subtypes and radiological characteristics for children with anorectal malformation (ARM) associated with congenital spine deformity. Methods A retrospective review was conducted for 72 ARM children patients who had received treatment between January 2008 and December 2019. There were 38 boys and 34 girls. Based upon the range of vertebral anomalies, they were assigned into Group | (n =30,41.7% ) :ARM associated with simple thoracic/lumbar vertebral anomalies;Group [I (n = 35 ,48.6% ) :those with simple sacral agenesis and Group I (n =7,9.7% ) : those with both sacral agenesis and thoracic/lumbar vertebral anomalies. Demographic profiles, ARM type, type/location of vertebral anomalies, sacral agenesis ,rib anomalies and concomitant defects of other systems were recorded. SPSS 18.0 was used for statistical analysis. Since all measurement data in this study did not obey normal distribution, M( Q1, Q3) was used to describe the measurement data. Numerical comparison among three groups was conducted by KruskalWallis rank sum test for comparison of multiple groups, and Nemenyi test was used for pound-wise comparison. Fisher’s exact probability method was used to compare the sex ratio, types of anorectal malformations , combined with other systemic malformations, distribution of vertebral malformations, rib malformations, and sacral malformations among the three groups. P < 0. 05 showed statistical significance. Results The average evaluation age of Group JI was 4.00(3.00,5.00) months and it was greater than Group I /Il (P =0.009). No differences existed in gender or ARM type among three groups. Spinal deformity predominated in main thoracic region (24/30) and proximal thoracic region (17/30) in Group I whereas lumbar region (6/7) and thoracolumbar region (4/7) were affected in Group Il (P =0.002). No significant differences in type/level of vertebral anomaly or percentage of multiple anomalies existed between Groups I and JI. Severe sacral agenesis was more common in Group [[ than Group II (P =0.020). The prevalence of associated rib anomalies was higher in Group J than Group I/II (P =0.002). And Group [ had higher incidence of cardiac defects (P =0.031) and a lower incidence of intraspinal anomalies (P =0.001) than Group I/II. Conclusion ARM patients associated with spine deformity may be divided into three clinical subtypes. Clinical and radiological characteristics vary among three subtypes and carry important implications for disease evaluations and treatments. © 2022, Journal of Clinical Pediatric Surgery. All rights reserved.     

儿童Wassel Ⅱ型复拇畸形术后继发性畸形的原因分析

目的 探讨儿童Wassel Ⅱ复拇畸形术后继发性畸形的原因.方法 患儿分为两组,A组:35例37指年龄在10个月至6岁Wassel Ⅱ复拇畸形的儿童,行桡侧多指切除,关节囊重建,分叉处伸指肌腱切除术或移植至末节指骨基底,术后克氏针固定5周,拔针后戴支具3个月.B组:8例年龄在4～14岁Wassel Ⅱ先天性复拇畸形术后出现拇指侧偏畸形,除1例因第一次术后只有2个月,未行再次手术治疗外,其余7例经再次手术治疗.行偏侧瘢痕"Z"字成形、关节囊松解,对侧关节囊紧缩,克氏针固定,6周后拔针并戴支具3个月.结论 A组28例患儿随访6个月至30个月,平均18个月.优22例;良5例;差1例.B组7例随访6～28个月,平均16个月.优4例;良2例;差1例.结论 Wassel Ⅱ型复拇畸形术后继发性畸形的主要原因是被切除拇指的残存伸指肌腱未做处理,关节囊、侧副韧带未修复和近节指骨远端未修整.拔除克氏针后支具的使用对防止继发畸形具有重要的作用.

Abstract：

Objective To investigate the causes of the secondary deformity after the correction of the Wassel type Ⅱ thumb duplication. Methods The patients were divided into two groups: Group A was consisted of 37 thumbs of the 35 patients(20 females,15 males;mean age 3.6 years;range 10 months to 6 years) underwent surgery.Treatment included resection of the most hypoplastic thumb,followed by reinsertion of the articular capsule and the collateral ligament,and the articular surface of the head of the proximal phalanx was shaved,the extensor tendons were centralized on the distal phalanx or cut,and the alignment maintained with Kirschner-wire fixation for five weeks.Immobilization with orthosis was conducted for three months after withdrawing Kirschner-wire.Eight patients who had been treated at other hospitals originally for type-Ⅱ deformity and had residual deformity were included in group B,their age ranged from 1 to 6 years.Seven of them underwent scar release by a z-plasty,reefing of ulnar joint capsule,shaving articular cartilage to establish more congruent joint surfaces,and the alignment being maintained with Kirschner-wire fixation for six weeks.Immobilization with orthosis was adopted for three months after withdrawing Kirschner-wire.Results Based on the Tada scoring system,the results of group A were good in 22,fair in 5,and poor in 1 after mean one and half year follow-up(range 6 months to 30 months).In group B,the mean follow-up was 1 year and 4 months(range 6 months to 28 months),the results were good in 4,fair in 2,and poor in 1.Conclusions The main causes of the secondary deformity after the correction of the Wassel type Ⅱ congenital thumb polydactyly include the extensor tendons are not centralized on the distal phalanx,the articular capsule and the collateral ligament are not construction and the articular surface of the head of the proximal phalanx is not shaved.It is important to used orthosis after withdrawal of Kirschner-wire for the treatment of secondary deformity after the correction of the Wassel type Ⅱ thumb duplication.     

Establishment of the normal reference range of neurotransmitters in Han - nationality children aged 3-12 in Hubei province北大核心CSCD

Objective To establish the normal reference range of neurotransmitters in Han - nationality children aged 3-12 in Hubei province. Methods A prospective study was conducted on healthy Han - nationality children aged 3-12 who took physical examination in Wuhan Children's Hospital, Hubei province from January to August 2021. The children were asked for their medical histories, and those with neurological diseases, psychiatric diseases, infection, trauma, and a drug history in the past 2 weeks were excluded. The plasma of 324 children (262 males, 62 females;217 cases in the 3-7 years old, 107 cases in the 8-12 years old) and urine of 391 children (302 males, 89 females;266 cases in the 3-7 years old, 125 cases in the 8-12 years old) were collected. They ultra performance liquid chromatography - mass spectrometry multiple techniques (UPLC - MS/MS) were used to detect 10 kinds of neurotransmitters (e. g., dopamine, epinephrine, glutamic acid, etc.) in plasma and 8 kinds of neurotransmitters (e. g., dopamine, epinephrine, 5 - hydroxyindoleacetic acid, etc.) in random urine. The normal reference range of neurotransmitters in Han - nationality children aged 3-12 in Hubei province was established. The Kruskal - Wallis H test was made for statistical analysis of the differences in neurotransmitter levels among different age groups and gender groups. The neurotransmitter levels between different groups were compared by the Nemenyi test. Results There were no significant differences in the levels of various neurotransmitters in children of different genders(all P > 0. 05). There were significant differences in the levels of dopamine, methoxy - norepinephrine, tryptophan and γ - aminobutyric acid in the plasma of children aged 3-7 years and 8-12 years. There were significant differences in the levels of dopamine, epinephrine, norepinephrine, methoxy - norepinephrine, high vanillic acid and 5 - hydroxyindoleacetic acid in the random urine between the 3-7 years old group and the 8-12 years old group. Conclusions The normal reference range of neurotransmitters in Han - nationality children aged 3-12 in Hubei province is established. This study provides reference for clinical practice and lays a foundation for the study of neurotransmitter - related diseases in children. © 2022 Chinese Journal of Applied Clinical Pediatrics. All rights reserved.     

小儿肺吸虫性心包炎的外科治疗

目的 总结小儿肺吸虫性心包炎的外科治疗经验.方法 对我院2000年1月至2009年6月间行外科治疗的54例小儿肺吸虫性心包炎进行回顾性研究,对其临床表现、诊断方法、治疗方法及疗效进行总结.结果 诊断急性心包炎45例,行心前区心包大部切除并心包引流术,诊断缩窄性心包炎9例,行心包剥脱术.其中1例急性心包炎行心包部分切除术后心包再缩窄,再次行心包剥脱术,所有病例治愈出院,远期疗效良好.结论 小儿肺吸虫性心包炎中等量以上积液,尽早行心包部分切除能缩短病程,避免缩窄性心包炎的发生.

Abstract：

Objective To summarize our experience of surgical treatment of paragonimus pericarditis in children. Methods Between January 2000 and June 2009,54 children with paragonimus pericarditis in our hospital were treated surgically. The clinical manifestations, diagnosis, treatment and effects were reviewed. Results Forty-five children were diagnosed as acute pericarditis and underwent pericardial resection (Most of the precordial pericardium) and pericardial drainage. Nine patients were diagnsed as constrictive pericarditis and underwent pericardial stripping. Of them, one patient with acute pericarditis developed re-constriction after pericardial resection and underwent repeated pericardial stripping. All 54 children were cured. The result of long term follow-up was satisfactory. Conclusions Patients with paragonimus pericarditis with moderate or severe pericardial effusion require early pericardial resection. This could shorten the course and avoided occurrence of constrictive pericarditis.     

Clinical features of children with colorectal polyps and the efficacy of endoscopic treatment: an analysis of 1 351 cases北大核心CSCD

Objective To study the clinical features of children with colorectal polyps and the efficacy of endoscopic treatment. Methods A retrospective analysis was performed on the medical data of 1 351 children with colorectal polyps who were admitted and received colonoscopy and treatment in the past 8 years, including clinical features and the pattern and outcomes of endoscopic treatment. Results Among the 1 351 children, 893 (66.10%) were boys and 981 (72.61%) had an age of 2-<7 years, and hematochezia (1 307, 96.74%) was the most common clinical manifestation. Of all the children, 89.27% (1 206/1 351) had solitary polyps, and 95.77% (1 290/1 347) had juvenile polyps. The polyps were removed by electric cauterization with hot biopsy forceps (6 cases) or high-frequency electrotomy and electrocoagulation after snare ligation (1 345 cases). A total of 1 758 polyps were resected, among which 1 593 (90.61%) were pedunculated and 1 349 (76.73%) had a diameter of <2 cm. Postoperative complications included bleeding in 51 children (3.77%), vomiting in 87 children (6.44%), abdominal pain in 14 children (1.04%), and fever in 39 children (2.89%), while no perforation was observed. The children aged <3 years had the highest incidence rates of postoperative bleeding and fever (P<0.0125), and the children with a polyp diameter of ≥2 cm had significantly higher incidence rates of postoperative bleeding, vomiting, and fever (P<0.05). Conclusions Solitary polyps, pedunculated polyps, and juvenile polyps are common types of pediatric colorectal polyps. Electric cauterization with hot biopsy forceps or high-frequency electrotomy and electrocoagulation after snare ligation can effectively remove colorectal polyps in children, with good efficacy and few complications. Younger age and larger polyp diameter are associated with a higher risk of postoperative bleeding. © 2022 Xiangya Hospital of CSU. All rights reserved.     

Investigation on serum pertussis toxin antibody levels in children aged 0-14 in Hangzhou北大核心CSCD

Objective To investigate the serum antibody level in children with pertussis in Hangzhou city, and to evaluate the incidence of pertussis in children and the immunization effect of vaccine. Methods A retrospective study was conducted.The pertussis toxin IgG antibody levels in 1 486 children aged 0-14 who received physical exa-mination in Hangzhou Children′s Hospital from January to December 2018 of were collected and analyzed.Serum antibody level ≥30 IU/mL was considered seropositive.The children enrolled were divided into the 0-3-year-old, 4-6-year-old, 7-9-year-old and 10-14-year-old groups; then the children under 3 years old were subdivided into groups of 0-<3 months, 3-<6 months, 6-<9 months, 9-<12 months, 12-<18 months, and 18-≤ 36 months; finally, the children were grouped according to their vaccination times, the pertussis toxin IgG antibody level and the infection rate of pertussis were compared among different groups by Mann-Whitney U, Kruskal-Wallis and χ2 tests. Results The overall positive rate of the pertussis toxin IgG antibody was 23.62% (351/1 486), and the median antibody concentration was 6.60 IU/mL.Among children aged 0-14, the 0-3-year-old children had the highest positive rate of the pertussis toxin IgG antibody and the highest median antibody concentration, which were 24.58% (29/118) and 6.95 IU/mL, respectively.There was no significant difference in the antibody positive rate and the median antibody concentration among different age groups (all P>0.05). Among different subgroups of children aged 0-3, the pertussis toxin IgG antibody positive rate and the median antibody concentration were statistically significant (all P<0.05). It was predicted that the pertussis infection rate in children over 3 years old in Hangzhou was about 45.99%.The patients receiving more than 3 doses of vaccination accounted for 87.48% (1 300/1 486), and their antibody positive rate was 25.46% (331/1 300). After excluding unvaccinated children, the comparison results suggested that there was statistical significance in the antibody positive rate and median antibody concentration among different vaccination groups (χ2=24.467, 67.438, all P<0.001). Conclusions The serum pertussis toxin IgG antibody positive rate in children aged 0-14 in Hangzhou is low, but their predicted pertussis infection rate is higher.Children aged 0-14 are easy to become a main source of infection.Therefore, it is necessary to pay attention to and strengthen the vaccination plan and research, enhance the monitoring of the infection source, and prevent the " recurrence of pertussis" . © 2022 Authors. All rights reserved.     

Surgical treatment of thoracic Pott disease in a 3-year-old child, with vertebral column resection and posterior-only circumferential reconstruction of the spinal column: case report

Tuberculosis (TB) is a common disease worldwide that is caused by Mycobacterium tuberculosis. Tuberculosis of the spine, also called Pott disease, is the most common site of bony dissemination. Although children are disproportionately affected, spinal TB is nonetheless rare in very young children. Cases involving infants requiring surgical intervention have been previously reported, and they are often associated with greater management challenges given the technical difficulty with instrumentation in very young children. This case involved a 3-year-old girl with TB centered at T-6, who presented with myelopathy from spinal cord compression and a severe kyphotic deformity (> 60°). She underwent a single-stage costotransversectomy for vertebral column resection, followed by reconstruction with an anterior expandable titanium cage and posterior pedicle screw instrumentation. At last follow-up, the patient was clinically and radiographically stable. The authors report on the youngest patient with spinal TB treated surgically with this strategy and review the literature regarding prior cases involving young children. Although limited by the paucity of cases in the literature, surgical debridement and spinal fusion appear to provide a safe alternative to prolonged bed rest or casting and may offer additional benefits of a faster recovery and ambulation.     

小儿脊柱侧弯并发剃刀背畸形的矫治

目的 矫正脊柱侧弯患儿的肋骨剃刀背畸形。方法 在实行后路脊柱侧弯矫形及脊柱融合时,采用凸侧多节短段肋骨切除术同时矫治剃刀背及术后佩带矫形石膏或支具背心,更为有利。结果 1997年9月至1999年6月共有49例脊柱侧弯患儿施行剃刀背矫形术,未发生气胸。胸膜破裂等并发症,有3例患儿遗有残余剃刀背,其余患儿矫形效果均满意。结论 多节短段肋骨切除术是一种简便有效、安全的方法。在矫形剃刀背的同时,还可提供脊柱融合的植骨材料,免去髂骨取骨。     

婴幼儿先天性脊柱侧后凸畸形的手术治疗

目的总结婴幼儿先天性脊柱侧后凸畸形的手术治疗经验。方法回顾性分析1999年10月~2006年12月经手术治疗的20例先天性脊柱侧后凸畸形病例资料。其中男8例,女12例。年龄11个月~3岁8个月。根据Winter及MCmaster分型,前方和单侧形成不全(后外侧1/4椎体)9例,前方形成不全(后方半椎体)7例,凸侧半椎体凹侧骨桥4例。脊柱侧凸Cobb角30°~50°,后凸Cobb角36°~56°。手术方法:4例行单纯脊柱后路短段融合术;6例经脊柱后路凸侧椎弓根行半椎体半骺切除 融合术;2例行侧前路椎体骺板及半锥体切除术;8例行脊柱后路短段融合 钢丝襻及钩棒系统矫形固定术。结果全部病例术后脊柱侧凸及后凸畸形部分矫正或原位融合,无并发症。经1~7年随访,5例脊柱侧后凸减轻;8例脊柱侧后凸无明显变化;2例脊柱畸形加重半椎体复出;3例假关节形成;2例钩棒脱出,无钢丝断裂。结论婴幼儿脊柱柔韧,可塑性强,在畸形尚未加重之前可通过脊柱后路手术矫正并控制脊柱畸形的进展,用钢丝襻固定可及时矫正畸形,稳定脊柱。近期疗效满意,远期疗效有待继续随访。     

小儿脊髓纵裂诊疗分析

目的探讨小儿脊髓纵裂的临床特点及治疗方法。方法回顾性分析2001年1月至2011年5月作者收治的9例脊髓纵裂患儿临床资料,年龄2个月至6岁,平均年龄17个月。出现症状时间平均7个月。临床表现有背侧中线皮肤病损7例,脊柱畸形4例,下肢功能障碍及畸形4例,排尿障碍6例,排便障碍5例,下肢疼痛1例。6例术前经CT或MRI检查确诊,3例为术中发现。Pang分型：Ⅰ型6例,Ⅱ型3例。所有病例均合并终丝栓系,合并其它脊髓畸形6例,包括脊髓脊膜膨出2例,脊髓脂肪瘤3例,皮样囊肿1例。所有病例均行手术治疗,切除脊髓分隔,同时解除合并的其它脊髓栓系畸形。结果9例患儿中,5例痊愈,所有神经症状消失,3例显著改善,1例好转,无症状加重及无效病例。结论小儿脊髓纵裂多合并其它脊髓畸形,临床表现不典型。早期诊断、早期治疗是提高疗效的关键。     

单开门椎管成形治疗儿童颈胸段椎管内髓外肿瘤

目的 探讨单开门椎管成形、重建椎管后部结构治疗儿童颈胸段椎管内髓外良性肿瘤的可行性及临床疗效.方法 1998年5月至2012年5月,应用单开门掀起椎板、显微切除椎管内髓外肿瘤、椎板棘突复合体原位复位重建椎管后部结构的方法治疗儿童颈胸段椎管内髓外肿瘤28例.男17例,女11例;年龄1岁8个月～13岁,平均8.2岁;病程3个月～2年.影像学显示:肿瘤长度0.8～4 cm,占据1.5～4个脊髓节段.肿物偏向左侧12例,右侧10例,居中6例.结果 随访12个月～5年,平均32个月.手术部位颈段19例、胸段9例,椎板开门数2～5个,平均2.5个.平均手术时间86 min (75～146 min),术中平均失血128ml(85～356ml).所有病例均行X线片检查,未见脊柱侧凸、后凸畸形及失稳征象,23例复查CT显示复位的椎板棘突复合体无内陷、移位,28例复查MRI见椎管内肿瘤无复发,无椎管狭窄、黄韧带和硬脊膜增厚.脊柱曲度的变化:颈椎病例中颈椎曲度由术前的(17.8±8.4)°减少为术后12个月时的(16.1±7.8)°,手术前后比较无统计学差异(P＞0.05);胸椎病例局部Cobb角由术前的(11.6±3.8)°增加至术后12个月时的(12.5±4.6)°,手术前后比较无统计学差异(P＞0.05).结论 单开门稚管成形、重建椎管后部结构治疗儿童颈胸段椎管内髓外肿瘤,对椎管内髓外肿瘤的暴露及切除效果满意的同时,保存了一侧椎板的连续性,椎板棘突韧带复合体复位后恢复了脊柱的原有解剖结构,对脊柱的稳定性影响小,可避免术后儿童发育过程中脊柱畸形的发生.     

纵向可延长钛金属肋骨假体技术治疗先天性脊柱侧弯合并胸廓畸形

目的 报道我们采用纵向可延长钛金属肋骨假体(VEPTR)技术治疗先天性脊柱侧弯合并胸廓畸形的初步体会.方法 5例先天性脊柱侧弯合并胸廓畸形的患儿,男3例,女3例,平均年龄8.3岁(4.7～12.2岁);均自出生就发现脊柱畸形并呈进行性加重.除1例曾经接受过弧度段脊柱张力钢丝捆绑治疗外,其余病例均无过去手术史;所有病例体格矮小、躯体平衡失调并倒向凸侧;肺功能检测明显低下,其中最大肺活量(VCMAX)和最大自主通气量(MVV)分别只有同年龄、同身高正常预测值的24.8%～48.1%(平均32.8%)和20.8%～54.4%(平均34.5%);胸段脊柱混合型分节、分化不良,3例存在凹侧肋骨融合畸形;术前Cobb's角平均为77.6°(63°～106°);CT及CT三维重建测量,脊柱旋转(SR)平均为19.6°(11.4°～26.8°),胸廓旋转(TR)平均为61.4°(34.2°～477.2°),后半胸廓对称度(PHSR)平均为2.4(1.2～3.6);MRI脊髓扫描未发现异常.手术在神经监护仪下进行,所有病例均I期完成手术,4例进行了肋骨开放截骨,术中4例胸膜壁层破裂,所有病例胸膜脏层均保持完整.所有病例均各安置了肋骨-肋骨、肋骨-脊柱钛肋各一组.结果 所有病例均获得随访,平均随访时间14个月(12～18个月),所有病例均已完成了2次延长.术后所有病例躯体平衡获得明显改善,凹侧胸廓扩大,骨盆倾斜平衡恢复,脊柱高度增加,身高平均增长4.4 cm(3～7 cm).所有患儿肺功能检查均较术前有不同程度提高,VCMAX和MVV平均增加35 7%(10.4%～78.4%)和51.7%(8.2%～84.9%).呼吸系统易患感染、活动后气急等现象明显改善.脊柱畸形均有所矫正,Cobb's角测量平均57°(44°～69°),家长对患儿外观改变均表示满意.结论 VEPTR技术对于治疗先天性脊柱侧弯合并胸廓畸形所致的胸腔功能不全综合症显示了一定的效果,肺功能改善,脊柱畸形控制,脊柱生长继续,躯体平衡恢复.其中长期功效和并发症尚待观察.     

儿童胸腰椎结核性后弯畸形的临床评估及术式选择

目的 探讨如何根据儿童胸腰椎结核性后弯畸形的临床及影像特征,选择手术方式,防止后弯畸形进展及降低神经并发症发生率.方法 本组14例,男3例,女11例,年龄4～18岁,平均11.8岁.其中活动性结核性后弯畸形6例;静止性结核性后弯畸形8例.活动性结核性后弯畸形(6例)的手术方法 :①前路病灶清除、植骨融合术3例;②Ⅰ期后路经椎弓根椎体截骨矫形融合、Ⅱ期前路病灶清除植骨融合术3例.静止性结核性后弯畸形(8例)的手术方法 :①后路原位融合术3例;②后路全脊椎截骨矫形内固定融合术2例;③Ⅰ期后路经椎弓根椎体截骨矫形内固定融合术、Ⅱ期前路支撑融合3例.影像测量:在术前、术后及末次随访侧位X线片上测量后弯角(K)、畸形角(D).结果随访6～48个月,平均25个月.活动性结核患儿无结核复发、窦道形成及切口感染,无神经并发症.6例活动性结核性,后弯角(K)术前平均46°,术后平均20°,末次随访平均22°;畸形角(D)术前平均47°,术后平均25°,末次随访平均27°.8例静止性结核性后弯,后弯角(K)术前平均50°,术后平均44°,末次随访平均47°;畸形角(D)术前平均42°,术后平均34°,末次随访平均36°.结论 儿童胸腰椎结核性后弯畸形的术式选择应根据其自然史特征、病变累及范围及后弯畸形的病理阶段,采用个体化的手术策略,可以取得满意的疗效.     

小腿肌间海绵状血管瘤并跟腱挛缩强直畸形的手术治疗

目的探讨小儿小腿肌间海绵状血管瘤导致跟腱挛缩畸形的手术治疗方法.方法 回顾性分析21例小腿肌间海绵状血管瘤患儿(男7例,女14例;年龄2～11岁)的临床资料,在本院首次手术13例,另8例曾在外院行手术治疗.均存在小腿腓肠肌及比目鱼肌肌间海绵状血管瘤导致跟腱挛缩强直畸形.均采用血管瘤切除+Z形跟腱延长术,统计并评价手术效果.结果 所有病例中血管瘤完整切除19例,为保留正常功能,2例重症患儿行部分切除术,全部病例行Z形跟腱延长术,术后随访6个月～1 a,一期手术成功率为95.2%;21例患儿均可正常行走,踝关节功能正常,其中2例踝关节活动度有不同程度受限.结论 血管瘤切除+Z形跟腱延长术可尽早切除瘤体,纠正踝关节功能,有效治疗小腿肌间海绵状血管瘤致跟腱挛缩畸形,为患儿保持正常行走提供可能.     

小儿颈椎及颈脊髓损伤

目的 总结小儿颈椎及颈脊髓损伤的诊断治疗经验。方法 回顾分析４７例小儿颈椎及颈脊髓损伤。男３１例,女１６例,年龄６－１４岁,平均１１．６岁。新鲜损伤１９例,陈旧性损伤２８例。其中上颈椎损伤３３例,下颈椎损伤１０例,多节段间隔性颈椎损伤１例。无Ｘ线异常的脊椎损伤３例,非手术治疗２７例,手术治疗１９例,未治１例。结果 早期死亡１例。４５例获１－１２年随访,恢复正常或接近正常者３４例,明显改善者６例,５     

儿童面部黑色素痣诊治379例

目的回顾性分析2010年1月至2014年12月在本院经手术治疗的379例面部黑色素痣患儿临床资料,总结儿童面部黑色素痣的手术治疗经验。方法379例中,男175例,女204例;年龄44 d至16岁。采用3种术式:单次(235例)或分次(71例)切除缝合,切除加全厚植皮(38例),切除加皮瓣修复,邻近皮瓣转移(34例),1例左面部巨痣行痣大部分切除加股前外游离皮瓣转移修复。采用皮肤科医师和患儿家属双盲主观评价疗效,评价内容为切口瘢痕、面部畸形、色差。结果除1例股前外游离皮瓣转移患儿游离皮瓣吻合口栓塞改为全厚植皮外,所有患儿均完整切除面部黑色素痣,切口Ⅰ级愈合。所有单次或分次切除缝合、临近皮瓣转移者未出现明显瘢痕增生或挛缩,皮肤色泽和弹性与正常皮肤接近,除部分邻近皮瓣转移患儿家长对附加切口不满意外,均获得满意评价。全厚植皮术者植皮区创缘发生轻度瘢痕增生,植皮区色素沉着。所有患儿未继发面部畸形。结论儿童面部黑色素痣的手术设计需兼顾其所处面部美容单位、面积大小,遵循面部美容单位自然的分界线及面部皱纹线走向,选择适宜的切除缝合、皮瓣转移、全厚植皮等术式进行修复,术后可获得较好的美容效果。