ObjectiveTo observe the mutation and expression of Nkx2.5 in congenital heart disease patients with diminutive pulmonary blood. We preliminarily explored the association between Nkx2.5 gene and pathogenesis of congenital heart disease patients with diminutive pulmonary blood. MethodsFifty six patients of congenital heart disease with diminutive pulmonary blood in the first affiliated hospital of Bengbu medical college and Anhui province children, s hospital between May 2012 and May 2014 were as an experimental group. Sixty three patients of ventricular septal defect were as a control group. In the trial group, there were 30 males and 26 females averagely aged 5.82± 4.23 years ranking from 6 months to 14 years. In the control group, there were 36 males and 27 females averagely aged 6.93± 4.56 years ranking from 6 months to 14 years. Before operation, peripheral venous blood of all the patients were collected. We used polymerase chain reaction combined with DNA sequencing technology to detect Nkx2.5 gene exon sequence and to analyze the association between Nkx2.5 gene mutation and congenital heart disease with diminutive pulmonary blood. And we got some hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5× 0.5× 0.5 cubic centimeter. And we extracted myocardial tissue RNA. The expression changes of Nkx2.5 gene mRNA were detected by real-time fluorescence quantitative polymerase chain reaction technique. ResultsThere was no mutations tested out in the peripheral venous blood in both two groups. The expression of mRNA in Nkx2.5 gene of the trial group was lower than that in the control group with a statistical difference. ConclusionNkx2.5 gene mutation may be associated with multiple factors. The occurrence of congenital heart disease with diminutive pulmonary blood may be related with a decline of Nkx2.5 gene expression in the myocardial tissue.
Objective To investigate the anatomical features of congenital chordee without hypospadias in children and to discuss the diagnosis and treatment.Methods From August 1984 to December 2004, 94 children with chordee withouthypospadias treated in the West China Hospital of Sichuan University were classified and analyzed for anatomical alterations. Their ages ranged from 18 months to 13 years (mean 6.9 years). Ninety-four patients were divided into four groups. With intraoperation artificial erection, the patients with penis straightened after degloving were classified as type Ⅰ patients (skin-tethering), those with peins straightened after fibrotic tissue in Buck’s fascia released as type Ⅱ patients (dysgenetic fascia), those with normal urethra and orthoplasty failed after degloving and removing fibrotic tissue as type Ⅲ patients (corporal disproportion), and those with dysgenetic urethra tethering the corpora cavernosa as type Ⅳ patients (short urethra).Results In type Ⅰ (n=31, 32.9%) patients, the ventral skin and dartos fascia were contracted while Buck’s fascia and the urethra was normal, in some (7 cases) scrotal skin extended to the ventral portion of penis (webbed penis). In type Ⅱ (n=45, 47.9%), contracture of Buck’s fascia was evident and the thickening fibrotic tissue constituted the chief obstacle to orthoplasty, though in some skin was shortened. In type Ⅲ (n=6), the dorsal and ventral sides of the corpora cavernosa were disproportionated, and the morphologically normal urethra tightly adhered to the ventral aspect of corpora cavernosa. In some cases ventral skin and fascia were contracted, but orthoplasty could notbe achieved through releasing these layers. In type Ⅳ (n=12, 12.8%), the distal urethra was paper-thin and lacking corpus spongiosum, or dense fibrotic bandswere found to be deep to the urethra. The urethra tethered the corpora cavernosaand formed a bow-to-string relation. The overlying skin and fascia were contracted in varying degrees while none had significance in straightening the penis. After operation, the length of penis increased to 6.9 cm from 5.2 cm on average and the chordee was corrected to 1.6° from 42.6° before operation on average. The patients were followed up 1 months to 15 years. The results were satisfactory.Chordee remained in 2 cases, fistula and urethral stricture occurred in 2 casesrespectively, fistula in association with urethral stricture and diverticulum in 1 case; the operation was given again and the results was satisfactory. Conclusion Patients with chordee without hypospadias may be divided into four types depending on which layer of the ventral penis constitutes thechief contribution to chordee. A systematic approach with repeated artificial erection tests is needed in determining the classification and surgical correction.
OBJECTIVE: To introduce a surgical approach for reconstruction of nail folds in congenital complete syndactyly release. METHODS: A narrow flap and a broad flap were raised on the common distal phalanx to cover the denuded nail-edge in 30 fingers of 15 cases whose webs were separated. RESULTS: All of the flaps were successfully transferred and survived. The reconstructed nail folds had satisfied figure in 21 out of 30 fingers. The nail folds in the other 9 fingers, covered by a broad flap in 2 fingers and by a narrow flap in 7 fingers, were a little smaller than normal. All of the 30 fingers had normal fullness of pulp and no twisty nails. CONCLUSION: The reconstruction of nail folds by double pulp flap can be performed with a one-stage technique, and the outcome is satisfactory, which make it as a good surgical approach to reconstruct nail folds in congenital complete syndactyly release.
From 1978 to Dec. 1991, 50 cases of dilatation of the extrahepatic biliary duct in children were treated. They were classified as: cystic dilatation in 34 cases, arid fusiform dilatation in 16 cases. Types of reconstruction of the extrahepatic biliary duct included: excision of cystic dilatation and Rorx-en-Y hepatoductojejunostomy in 25 cases, and interposition of jejunum and hepatoductoduodenostomy in 9 eases. for those cases having fusiform dilatation, interposition of jejunum and hepatoductoduodenostomy，cases and Rorx-en-Y-hepatoductojejunostmy 5 cases.The follow-up period averajed 6.5 years. Forty nine patients were recoverwd from the teatment and 1 patient died.
Congenital chest deformity is caused by abnormal development of spine or ribs, resulting in sternal depression or protrusion. Pectus carinatum and pectus excavatum are the most common diseases in clinic, which can either be accompanied by other syndromes or exist alone. The genetic factors of congenital thoracic deformity can be related to single gene mutation, polygene mutation and chromosome aberration. Common clinical congenital thoracic deformity with syndromes, such as Marfan syndrome and Noonan syndrome, often have relatively fixed and clear pathogenic genes. The genetic pathogenesis of non-syndromic and independent congenital thoracic malformations is usually diverse, and treatments for syndromic and non-syndromic congenital thoracic deformity are different. Therefore, it is necessary for us to differentiate syndromic and non-syndromic congenital thoracic deformities in basic research, clinical diagnosis and treatment.
OBJECTIVE To sum up the experience of diagnosis and treatment of intrinsic upper gastro-intestinal membrane, 13 cases in children were studied retrospectively. METHODS There were 10 boys and 3 girls, the major symptoms were vomiting and epigastric distension. Eleven cases were treated by membranectomy with intestinal plasty, and 2 cases were treated by retrocolic side to end duodenojejunostomy. RESULTS All cases had good results without severe complications. CONCLUSION The children who have typical symptom of upper digestive tract should be considered duodental and upper jejunal membrane, and should be proved by contrast radiology. The membranectomy with intestinal plasty is the better operative method.
Objective To investigate the effectiveness of the penile ventral scrotum cohesion place wedge cutting and improved Brisson technique for congenital buried penis. Methods Between March 2010 and June 2012, 68 boys with congenital buried penis were treated by the penile ventral scrotum cohesion place wedge cutting and improved Brisson technique, with a median age of 4 years and 10 months (range, 3 months-13 years). Of 68 cases, 14 were classified as phimosis type, 14 as rope belt type, 20 as moderate type, and 20 as severe type. The body of penis developed well and had no deformity. After operation, complications were observed, and the effectiveness was evaluated by the designed questionnaire. Results Early postoperative complications occurred in 11 cases, including obvious adhesion of the outside wrapping mouth in 4 cases, scrotal skin bloat in 5 cases, and distal foreskin necrosis in 2 cases; long-term complications occurred in 9 cases, including abdominal incision scar formation in 4 cases, wrapping mouth scar stricture in 3 cases, and short penis in 2 cases. Primary healing of incision was obtained in the other boys. Fifty-four cases were followed up 6-12 months (mean, 8 months). According to the designed questionnaire, satisfaction rate with the overall view in parents was 77.78% (42/54); the clinical improvement rate was 85.19% (46/54); exposure of the penis was satisfactory in parents of 50 cases; and the parents had no psychological burden of penis exposure in 46 cases, which were significantly improved when compared with preoperative ones (P ﹤ 0.05). The boys had no psychological burden of penis exposure in 29 cases (53.70%) after operation, showing no significant difference when compared with preoperative one (18 cases, 33.33%) (χ2=1.22, P=0.31). Conclusion Application of the penile ventral scrotum cohesion place wedge cutting and improved Brisson technique can effectively correct congenital buried penis.
Objective To explore the feasibility and safety of laparoscopic cyst resection and Roux-en-Y hepatojejunostomy in treatment for adult congenital cholangiectasis and to compare the therapeutic effects of laparoscopic procedure with conventional open procedure. Methods The clinical data of 33 adult patients with congenital cholangiectasis from May 2008 to September 2011 in the department of general surgery of Shengjing Hospital of China Medical University were retrospectively analyzed. Fourteen patients received laparoscopic procedure （laparoscopic group），whereas the other 19 patients received conventional open procedure （conventional group）. Results All the operations were carried out successfully through laparoscopic procedure. The mean time of operation in the laparoscopic group was significantly longer than that in the conventional group （195min versus 130min，P＜0.01）. The average intraoperative blood loss in the laparoscopic group was significantly less than that in the conventional group （80ml versus 270ml，P＜0.01）. In contrast，the mean time of bowel peristalsis recovery and postoperative hospital stay in the laparoscopic group were significantly shorter than those in the conventional group （time of bowel motion recovery：76h versus 104 h，P＜0.01；hospital stay：6.1 d versus 9.6 d，P＜0.01）. There were no differences in the early complications between two groups （P＞0.05）. Conclusions Totally laparoscopic treatment for congenital cholangiectasis in adult is feasible and safe. It is worth to be generally applied because of its minimal invasion and fast postoperative recovery.
ObjectiveTo evaluate the effects of anatomic correction for congenitally corrected transposition of the great arteries (ccTGA) and 10-year follow-up.MethodsFrom January 2008 to December 2018, 48 patients with ccTGA who underwent anatomic correction were reviewed. There were 29 males and 19 females with age of 39.2 (3-91) months. The cohort was divided into two groups: a biventricular anatomic correction group (39 patients) and a 1.5 ventricular anatomic correction group (9 patients). They were followed for in-hospital mortality, late mortality, long-term survival, freedom from reoperation, and heart function.ResultsThere were 3 early deaths and 2 early re-intervention in the biventricular anatomic correction group, but no death and only one re-intervention in the 1.5 ventricular anatomic correction group. Compared with the biventricular anatomic correction group, the operation time, tracheal intubation and ICU time were significantly reduced or shortened in the 1.5 ventricular anatomic correction group (P<0.05). The patients were followed up for 0.5-10.4 years. Four patients were lost. Two patients died in the biventricular anatomic correction group, and two patients received re-intervention. The 1-year, 5-year and 10-year survival rate was 88.2%, 84.0%, and 84.0%, respectively. There was no death or intervention in the 1.5 ventricular anatomic correction group. The quality of life of the other patients in the medium-term follow-up was satisfactory. Only 2 patients were classified as grade Ⅲ in cardiac function, and the other patients were classified as grade Ⅰ-Ⅱ.ConclusionAccording to the different anatomic characteristics of ccTGA, the individualized strategy of anatomic correction can achieve satisfactory surgical results, and the medium-term quality of life was good. Especially, 1.5 ventricular anatomic correction may obtain better therapeutic effects because of its lower operative mortality and less postoperative complications.
Congenital scoliosis is the presence of a sideways curvature of the spine caused by the failure of normal vertebral development. Congenital scoliosis is usually progressive, and surgical treatment is crucial for the treatment of congenital scoliosis. Surgical treatments of congenital scoliosis mainly include simple fusion surgery, hemivertebrae excision, growing rods technique, and vertical expandable prosthetic titanium rib. However, there is no uniform standard for the selection of surgical techniques and surgical timing. This article reviews the progress of different surgical treatments for congenital scoliosis, introduces the classification of congenital scoliosis, and clarifies the timing, pros and cons of different surgical techniques, aiming to provide a reference for the development of individualized optimal surgical plans for patients with congenital scoliosis.