肛门直肠畸形外科治疗前沿:机器人手术现状及未来趋势CSCD

As the most common digestive tract malformation in children, anorectal malformations (ARM) are one of the most representative diseases in pediatric surgery. Surgery is a sole therapy for ARM and surgical approaches have evolved dramatically from traditional open operation to mini-invasive procedure in recent decades. Traditional laparoscopic equipment has failed to meet the surgeon’s mastery of refined technique due to its limitations in operative accuracy and dimensions. Then robotic surgery system came into being. Robotic-assisted surgery, with its flexible handling and three-dimensional viewing, was initially introduced for adult surgery and then gradually extended to pediatric surgery. It has been applied to children with ARM. Based upon domestic and foreign literature reports, this review summarized the application status and recent advances of robotic systems in ARM. © 2022, Journal of Clinical Pediatric Surgery. All rights reserved.     

先天性巨结肠根治术后医源性直肠阴道瘘的再手术治疗CSCD

Objective To explore the causes of iatrogenic rectovaginal fistula after pull-through in Hirschsprung’s disease (HD) and summarize the experiences and efficacies of reoperation. Methods From December 2007 to December 2020 , retrospective review was conducted for clinical data of 6 HD children with iatrogenic rectovaginal fistula after pull-through. The surgical procedures for repairing rectovaginal fistula included transabdominal and transanal Soave , transperineal or transanal surgery. Results A total of six girls were included. Clinical manifestation was vaginal excretion. Injuries occurred in initial surgery (n =4) and during redo pull-through (n =2). The reasons for re-operation were postoperative abdominal hemorrhage and aganglionic segment residue. Rectovaginal fistula with anastomotic retraction and stenosis were successfully repaired by transabdominal and transanal Soave procedure in single time(n =4). The remaining two cases underwent simple local repair of rectovaginal fistula , including fistula closure after anal repair twice (n =1) and failed closure after five local (perineal/anal) repairs (n =1). Conclusion Rectovaginal fistula after pull-through in HD is a serious iatrogenic injury. It should be separated close to rectal submucosa/rectal wall to avoid vaginal injury. Transabdominal and transanal Soave procedure has a high success rate for repairing rectovaginal fistula and managing anastomotic retraction and stenosis. © 2022, Journal of Clinical Pediatric Surgery. All rights reserved.     

Juvenile dermatomyositis:advances in clinical presentation,myositis-specific antibodies and treatment

Background Juvenile dermatomyositis(JDM)is a chronic autoimmune disease characteristic by inflammation of small vessels within the skin,muscle and vital organs.But the clinical features and treatment of JDM have not been fully clarified.Data sources Databases underwent through PubMed for articles about the clinical features,myositis-specific antibodiesof JDM and its treatment,and we selected publications written in English which were relevant to the topic of this review.Results Clinical features and myositis-specific antibodies may predict the severity and prognosis of disease.Although the mortality rate has been lower with traditional treatments,such as corticosteroid,intravenous immunoglobulin,and diseasemodifying anti-rheumatic drugs such as methotrexate,their usages are variable.Novel biological therapies seem to be effective for refractory JDM patients,but more clinical trials are necessary.Conclusions JDM is a sever disease of childhood.We need to better understand recent advances of JDM in the context of clinical features including skin manifestations,muscle weakness and organ damage,myositis-specific antibodies and their associated outcomes and the treatment of disease.     

散发Rett综合征患儿新生MECP2突变亲源鉴定和X染色体失活15例分析

Objective Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2 ). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a cartier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations oecttr exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects. Methods Allele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR). Results Except for 2 cases who had a frameshifi mutation; all the remaining 13 cases had a C→T transition mutation. Paternal origin has been determined in all cases with the C→T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele. Conclusion De novo mutations in sporadic RTr occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

先天性马蹄内翻足动物模型胚胎后肢(芽)评分系统的建立

Objective Quantification of the severity of congenital clubfoot is essential for its re-search and treatment. Up to date, no scoring system is available for hind limb bud development. In this study,a scoring system was established based on a murine model Methods Sixty female Wistar rats weighing 220～250 g were randomized into the six control groups and six experimental groups. Vaginal sperm plug detection day was considered to be day 0 of gestation. Hind limb buds from fetuses of E13, 14, 15,16,17 and 18 days were removed and processed. Results Morphogenetic differentiation changes were detected in the experimental groups. According the new scoring system, clubfoot-like deformity was present in 80.9% of the experimental fetuses. We were able to quantify the extent morphogenetic diffcrentiation of the hind limb accordingly. Conclusions Congenital clubfoot deformities begin at early developmental stage and become exaggerated as the fetuses mature. The scoring system can quantify the extent of congenital clubfoot deformity and facilitate its management.     

Can pediatric vasovagal syncope be individually managed?

In children and adolescents,syncope is common and accounts for a considerable proportion of emergency visits.The underlying diseases of pediatric syncope mainly include neurally mediated syncope(NMS)and cardiogenic conditions.NMS accounts for 70–80%of pediatric syncopal cases,and one of the most common forms is vasovagal syncope(VVS)[1–3].In children with VVS,owing to the impairment of the barorefex integrity,the sympathetic system usually becomes overexcited after the change in position,leading to forceful contractions of a relatively empty ventricle and fnally causing a sympathetic withdrawal and an increased vagal activity.A relatively insufcient central volume,excessive vasodilation of peripheral vessel,autonomic nervous dysfunction,and neurohormonal disturbance may be aggravating factors.However,the efectiveness of previously unselected treatments for VVS has not been satisfactory.As such,a comprehensive assessment of the clinical characteristics,pathogenesis,and biochemical markers is needed to select the corresponding therapy.Since individualized treatment for VVS was proposed,several improvements have been made in the feld.     

孕早期胎儿颈项透明层在产前超声筛查胎儿畸形中价值的Meta分析

ObjectiveTo evaluate the value of nuchal translucency (NT) as a screening test for fetal abnormalities in the first trimester ultrasound examination.MethodsA search in Cochrane Library, PubMed, OVID, Springer, China National Knowledge Infrastructure (CNKI) and Chinese Bio-edicine Database（CBM）was performed to identify relevant English and Chinese articles between Jan 1990 and August 2008. Criteria for inclusion were established based on validity criteria for diagnostic research. Subsequently, the characteristics of the included articles were extracted. Statistical analysis was performed with Meta-iSc 1.4. Heterogeneity of the included articles was tested to select proper effect model to calculate pooled weighted sensitivity and specificity. Summary receiver operating characteristic curve(SROC) was made and the area under the curve (AUC) was calculated. Finally, sensitivity analysis was performed.ResultsTwelve articles were included, with a total of 112 099 fetuses. Nine articles meeting inclusion criteria were analyzed for the value of screening for cardiac abnormalities by nuchal translucency thickness above the 95th percentile for gestational age. The pooled sensitivity and specificity was 29.8%, 96.9%，respectively, AUC=0.804 7. Seven articles meeting inclusion criteria were analyzed for the value of screening for cardiac abnormalities by nuchal translucency thickness above the 99th percentile for gestational age. The pooled sensitivity and specificity was 18.9%, 99.3%，respectively, AUC=0.971 2. Five articles meeting inclusion criteria were analyzed for the value of screening for fetal abnormalities by nuchal translucency thickness above the 95th percentile for gestational age. The pooled sensitivity and specificity was 25.0%, 98.3% respectively, AUC=0.183 0. The sensitivity of screening for cardiac abnormalities by nuchal translucency thickness above the 95th percentile for gestational age was significantly higher than the nuchal translucency thickness above the 99th percentile for gestational age（χ2=6.58， P<0.05）,no difference was found in the specificity. The random?瞖ffect model was used in the analysis of screening for cardiac abnormalities by nuchal translucency thickness above the 95th or 99th percentile for gestational age because of the heterogeneity. The fixed-ffect model was used in the analysis of screening for fetal abnormalities by nuchal translucency thickness above the 95th percentile for gestational age because of the homogenicity. ConclusionsThe results suggest that screening for fetal abnormalities by NT thickness above the 95th percentile for gestational age has a low accuracy and is unsuitable for prenatal screen. At present it is incompletely clear on the sensitivity and specificity of screening for different kinds of fetal abnormalities by NT thickness. Screening for cardiac abnormalities by first trimester NT thickness has a high accuracy and specificity and can be reliably used in prenatal screen. We need the further systemic reviews to evaluate the value of NT as a screening test for different kinds of fetal abnormalities. Further multi?瞔entre and prospective studies are badly needed to be performed to optimize the standard of nuchal translucency thickness, evaluate the value of NT as a screening test for fetal abnormalities (especially cardiac abnormalities) in the first trimester ultrasound examination by a cost-effectiveness analysis, and develop an operation guideline on first trimester nuchal translucency thickness measurement for the prenatal screening of cardiac abnormalities in China.     

RGC-32研究进展

Response gene to complement-32(RGC-32)as one of important response genes to complement,involves in many biological functions. Recent studies found that many factors could induce the expression of RGC-32 such as membrane attack complex,cortical hormones,growth factors, luteinizing hormone and transforming growth factor-β and so on. The expression products of RGC-32 play a key role in cell proliferation, differentiation, inflammation, tumor metastasis and other processes, thus to participate in the occurrence of many diseases' development processes. However, it has not be clarified in its exact cell biological function, subcellular localization, gene regulation mechanism. This article will make a brief review on gene structure, functions and roles in cell biology as well as the relationship between human diseases for RGC-32.     

RGC-32研究进展

Response gene to complement-32(RGC-32)as one of important response genes to complement,involves in many biological functions. Recent studies found that many factors could induce the expression of RGC-32 such as membrane attack complex,cortical hormones,growth factors, luteinizing hormone and transforming growth factor-β and so on. The expression products of RGC-32 play a key role in cell proliferation, differentiation, inflammation, tumor metastasis and other processes, thus to participate in the occurrence of many diseases' development processes. However, it has not be clarified in its exact cell biological function, subcellular localization, gene regulation mechanism. This article will make a brief review on gene structure, functions and roles in cell biology as well as the relationship between human diseases for RGC-32.     

腹腔镜辅助肛门直肠成形术致后尿道憩室的预防措施探讨CSCD

Objective To explore the preventive measures of posterior urethral diverticulum (PUD) after laparoscopic assisted anorectoplasty (LAARP). Methods From August 2013 to December 2018, perioperative and postoperative clinical data were reviewed for 6 children with anorectal malformation (ARM) developing PUD after LAARP. PubMed database was searched for all published English literatures of PUD after ARM surgery from 2000 to 2021. Since international naming of PUD is not standardized, there are two major names, i. e. remnant of original fistula and PUD. Thus retrieval keywords were anorectal malformation, remnant of original fistula and PUD. Results The diagnostic age was 17 months to 5 years after LAARP. The clinical manifestations included mucuria, recurrent urinary tract infection and dysuria, etc. Computed tomography (CT) and retrograde urethrography revealed prerectal cyst. A total of 13 articles were retrieved, reporting 102 cases of PUD after ARM surgery. The age was 1 — 44 years and the diameter of PUD 3 —70 mm. The major clinical symptoms were frequent urination, dysuria, recurrent urinary tract infection, urinary calculi, hematuria and urinary incontinence, etc. Some non-symptomatic cases were only discovered accidentally during follow-ups. ARM procedures included LAARP (n = 36), posterior sagittal anorectopasty (PSARP,n = 15), abdominoperineal pull-through (n=15) and APP (n=50). Conclusion PUD is a rare complication after ARM surgery. And potential risks of PUD may be minimized by strengthening perioperative managements and improving surgical techniques. © 2022, Journal of Clinical Pediatric Surgery. All rights reserved.     

Child motherhood: the incapability remains

The period of adolescence,defined by the World Health Organization as the period between 10 and 19 years of age,is the transition from childhood to adulthood through a number of biological,psychological,and social changes.It has been reported that one in five individuals is an adolescent,and 85％ of adolescents live in developing countries,[1] Pregnancies that occur in this period,when the individual has yet to complete the maturation process in both biological and psychological senses,are risky for both the mother and child.