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 value of systemic-normothermic/cardiac-hypothermic cardiopulmonary bypass（CPB）on operation of congenital heart disease. Methods Thirty patients of congenital heart disease were randomly divided into two groups, the normothermia group（n=15）and hypothermia group（n=15）. The changes of CPB time, aortic cross-clamp time,operation time and postoperative drainage and the value of blood cell were observed. Results The duration of CPB （37. 5 ±11. 6rain vs. 51. 6± 12. 0 min, P〈0. 05） and operation time （2.2± 0.6h vs. 2. 7±0. 5h, P〈0. 01） in normothermia group were shorter than those of hypothermia group statistically, the differences of postoperative drainage and the value of blood cells between two groups were not statistically significant. Conclusion The use of systemic-normothermic/cardiac-hypothermic CPB on operation of congenital heart disease shows that the time of operation is shorter remarkly , and it could be clinically used safely.
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 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.
Twenty five children with congenital biliary dilatation were treated with hepatico-jejuno-duodenostomy following excision of choledochal cysts between 1983 and 1985. The age ranged from two months to eleven years. The last follow-up ranged from 6-9 years (mean 7.5 years). All patients were free of jaundice with normal growth and development and none had peptic ulcer. The results from the last follow-up was better than that of the first one. This procedure was safe, effective and physiologically appealing.
Objective To systematically review the association between prenatal exposure to dichlorodiphenyltrichloroethane (DDT) or polychlorinated biphenyls (PCBs) and the risk of congenital anomalies. Methods PubMed, EMbase, WanFang Data, VIP and CNKI databases were electronically searched to collect case-control studies on the relationship between prenatal exposure to DDT or PCBs and congenital anomalies from inception to February 2017. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies, then, meta-analysis was performed by using Stata 13.0 software. Results A total of 14 studies involving 2 238 infants with defect and 2 335 infants without defect were included. The results of meta-analysis showed that: the prenatal exposure to high level of DDT increased the incidence of cryptorchidism (OR=1.12, 95% CI 1.09 to 1.15, P<0.001). However, DDT exposure had no correlation to hypospadias and neural tube defects. The associations between prenatal exposure to PCBs and cryptorchidism, hypospadias, neural tube defects were not discovered. Conclusion Prenatal exposure to high levels of DDT may be a risk factor for cryptorchidism. Due to limited quality and quantity of the included studies, more high-quality studies are needed to verify above conclusion.
Objective To report the clinical characteristics and treatment analysis of 3 cases of congenital ulnar collateral flexor contracture of the forearm and take a reference for clinic. Methods A total of 3 patients with congenital ulnar collateral flexor contracture of the forearm were admitted between February 2019 and August 2021. Two patients were male and 1 was female, and their ages were 16, 20, and 16 years, respectively. The disease durations were 8, 20, and 15 years, respectively. They all presented with flexion deformity of the proximal and distal interphalangeal joints of the middle, ring, and little fingers in the neutral or extended wrist position, and the deformity worsened in the extended wrist position. The total action motion (TAM) scores of 3 patients were 1 and the gradings were poor. The Carroll’s hand function evaluation scores were 48, 55, and 57, and the grip strength indexes were 72.8, 78.4, and 30.5. Preoperative CT of case 2 showed a bony protrusion of the flexor digitorum profundus tendon at the proximal end of the ulna; and MRI of case 3 showed that the ulnar flexor digitorum profundus presented as a uniform cord. After diagnosis, all patients were treated with operation to release the denatured tendon, and functional exercise was started early after operation. Results The incisions of 3 patients healed by first intention. Three patients were followed up for 12, 35, and 12 months, respectively. The hand function and the movement range of the joints significantly improved, but the grip strength did not significantly improve. At last follow-up, TAM scores were 3, 4, and 4, respectively, among which 2 cases were excellent and 1 case was good. Carroll’s hand function evaluation scores were 95, 90, and 94, and the grip strength indexes were 73.5, 81.3, and 34.2, respectively. ConclusionCongenital ulnar collateral flexor contracture is a rare clinical disease that should be distinguished from ischemic muscle contracture. The location of the contracture should be identified and appropriate surgical timing should be selected for surgical release. Active postoperative rehabilitation and functional exercise can achieve good hand function.
ObjectiveTo analyze the early outcomes of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) patients with severe left ventricular dysfunction after surgical repair, and to explore the predictors for extracorporeal membrane oxygenation (ECMO) support for these patients.MethodsThe clinical data of ALCAPA patients with severe left ventricular dysfunction (left ventricular ejection fraction<40%) who underwent coronary artery reimplantation in the pediatric center of our hospital from 2013 to 2020 were retrospectively analyzed. The patients were divided into an ECMO group and a non-ECMO group. Clinical data of the two groups were compared and analyzed.ResultsA total of 64 ALCAPA patients were included. There were 7 patients in the ECMO group, including 4 males and 3 females aged 6.58±1.84 months. There were 57 pateints in the non-ECMO group, including 30 males and 27 females aged 4.34±2.56 months. The mortality of the patients was 6.25% (4/64), including 2 patients in the ECMO group, and 2 in the non-ECMO group. The postoperative complications rate was significantly higher in the ECMO group than that in the non-ECMO group (P=0.041). There were statistical differences in the cardiopulmonary bypass time [254 (153, 417) min vs. 106 (51, 192) min, P=0.013], aortic cross-clamping (ACC) time (89.57±13.66 min vs. 61.58±19.57 min, P=0.039), and preoperative left ventricular end-diastolic diameter/body surface area (132.32±14.71 mm/m2 vs. 108.00±29.64 mm/m2, P=0.040) between the two groups. Multivariate logistic regression analysis showed that ACC time was an independent risk factor for postoperative ECMO support (P=0.005). Receiver operating characteristic (ROC) curve analysis showed that the area under the ROC curve was 0.757, the sensitivity was 85.70%, specificity was 66.70%, with the cut-off value of 66 min.ConclusionACC time is an independent risk factor for postoperative ECMO support. Patients with an ACC time>66 min have a significantly higher risk for ECMO support after the surgery.
Objective To investigate the hospital outcomes and therapeutic strategy for multiple organ dysfunction syndrome （MODS） in children after cardiac surgery. Methods Seventy-seven consecutive pediatric patients （57 male/20 female, age 3.47±3.67 years, weight 13.08±7.52 kg） with MODS after cardiac surgery were enrolled in the study from 1999.7 to 2005.10. Corrective and palliative operation were performed in sixty-six patients and eleven patients, respectively. We evaluated the clinical score for all study patients according to the extent of organ injury. Results The overall mortality rate was 28. 6%（22/77）. （1） Cardiovascular, renal, hepatic, hematologic, neurologic and respiratory dysfunction was present in 100% （77/77）, 97.4% （75/77）, 84.4% （65/77）, 48.1%（37/77）, 45. 5%（35/77） and 44. 2%（34/77） of the patients, respectively. Cardiac injury appeared much earlier than other organs （P〈0. 05）. （2） Mortality rate with two, three, four, five and six dysfunctional organ systems was 0%, 12.5 %, 31.8 %, 42. 9 % and 87.5 %, respectively （r=0.487, P〈0. 001 in trend）. Furthermore, there was a positive correlation between the clinic score and mortality rate （r=0.603, P〈0. 001）. （3） Compared with survivors, non-survivors had longer cardiopulmonary bypass time, clamping time, higher incidence of accidental events and cardiopulmonary resuscitation during and after surgery （P〈0. 05）. Conclusion Mortality associated with MODS was highly correlated with the number of organ failing and clinical score. Cardiac dysfunction was the primary disease in MODS after cardiac surgery. Therefore, therapeutic strategy for MODS should be focused on management of primary disease, as well as providing consecutive evaluation and improvement for organ function.
Objective To discuss the imaging characteristics and clinical treatment methods of congenital biliary dilation. Methods Clinical data of 70 cases of congenital biliary dilation who treated in The Third Affiliated Hospital of Henan University of TCM and Henan Provincial People’s Hospital from Jan. 2010 to Jan. 2015 was collected and analyzed. Methods Along the bile duct region (all cases received ultrasound), the ultrasound of 57 cases (81.4%) showed irregular spherical, spindle, or prismatic area without echo connected to the proximal part of the bile duct, the intracavity wall of it was skin pass rolling, and part of it had the spotty detailed or slightly strong stones sound shadow, 1 case combined spindle or capsular area without echo connected to the intrahepatic bile duct partly and along with it. CT of 45 cases (64.3%, 43 cases were diagnosed as congenital biliary dilation) without and with enhancement scanning showed low-density and irregular oblate, cystiform, columniform or fusiform expansion shadow, slight mass effect, no difference before and after the enhancement of partial intrahepatic bile duct and choledoch, and that the structure of surrounding tissues were compressed, lapsed, and deformed. The MRI and magnetic resonance cholangiopancreatography (MRCP) inspection of 65 cases (92.8%, all of 65 cases were diagnosed as congenital biliary dilation) showed tadpole-shaped, irregular cystiform, columniform or fusiform expansion with long T2 and high MRCP signal shadow image of partial intrahepatic bile duct and choledoch, the dilated bile duct also being connected to biliary tree. Of the 70 cases, there were 66 cases (94.3%) of type Ⅰ, 1 case (1.4%) of type Ⅱ, 1 case (1.4%) of type Ⅳa, 2 cases (2.9%) of type Ⅳb. Sixty eight cases (65 cases of type Ⅰ, 1 case of type Ⅱ, 2 cases of type Ⅳb) underwent cholecystectomy+dilated bile ducts resection+common hepatic duct jejunum anastomosis (Roux-en-Y), 1 case underwent cholecystectomy+dilated bile ducts resection+pancreatic duodenal resection, another 1 case underwent cholecystectomy+dilated bile ducts resection+common hepatic duct jejunum anastomosis (Roux-en-Y)+resection of left hepatic lobe. All the cases were successfully recovered without severe complications and had no dead case, but 13 cases (18.6%) suffered from minor complications, including 6 cases of short-term abdominal pain and abdominal distension, 1 case of bile leak, 2 cases of incision infection, 3 cases of pulmonary infection, and 1 case of alteration of intestinal flora. All of the 70 cases were followed-up for 6-56 months (average of 36 months). During the follow up period, 2 cases died in reason of other incidence, 4 cases suffered from simple cholangitis, 3 cases suffered from cholangitis combined with intrahepatic bile duct stone, 2 cases suffered from cholangitis combined with intrahepatic bile duct stone, slight anastomotic stoma stenosis, and mild jaundice, 2 cases suffered from cholangitis. Conclusion Congenital biliary dilation has no typical clinical feature, but it has identifiable imaging manifestation, which can provide a theoretical foundation for congenital biliary dilation in diagnosing, preoperative evaluation, and chosing operative methods. Ultrasound is the first choice, MRI and MRCP are propitious to diagnose, locate, and classfy. The treatment of congenital biliary dilation is resecting the dilated bile ducts fully and performing the common hepatic duct jejunum anastomosis.