The complement component 4 binding protein alpha(C4BPA)gene is the alpha chain of complement binding protein 4.As a plasma protein involved in the complement and coagulation systems,it can influence immune responses and lipid metabolism.In order to study the polymor-phism of C4BPA gene and its correlation with milk quality traits in Chinese Holstein cows,genom-ic DNA was extracted from blood samples of 92 Chinese Holstein cows,and the target fragment of C4BPA gene was amplified by PCR,and the association analysis was performed by using direct se-quencing to obtain the SNP loci and milk quality traits.The results showed that among the four SNPs found at the third intron of the C4BPA gene,I3-11 G＞A was highly significantly correlated with milk protein and urea nitrogen(P＜0.05),I3-291 T＞G was significantly correlated with lac-tose(P＜0.05),I3-374 C＞T was highly significantly correlated with lactose and urea nitrogen(P＜0.05),and I3-375 T＞G was highly significantly correlated with lactose(P＜0.05),milk pro-tein and urea nitrogen.The chi-square test values for each point indicated that the population was in genetic equilibrium.Individuals of haplotype combination H1 H1 had the highest lactose content,and haplotype combination H1H2 can be used as the best haplotype combination in the molecular selection work of dairy cows.

Objective To analyze the risk factors and re-intervention strategies for mid- and long-term residual after arterial switch operation (ASO). Methods The clinical data of children with complex congenital heart disease who underwent ASO surgery in Shanghai Children’s Medical Center from January 2006 to June 2022 were retrospectively collected, and the risk factors for mid- and long-term residual after ASO were analyzed. Results A total of 952 children undergoing ASO were enrolled in this study, including 654 males and 298 females with an average age of (102.9±90.1) d and weight of (4.6±1.6) kg. There were 421 patients with D-transposition of the great arteries with intact ventricular septum (D-TGA/IVS), 357 patients with D-transposition of the great arteries with ventricular septal defect (D-TGA/VSD), and 174 patients with right ventricle double outlet combined with subpulmonary ventricular septal defect (Taussig-Bing malformation). Eighty-nine patients died early after the surgery, the mortality rate was 9.3%. The 746 surviving children were regularly followed up after the surgery (follow-up rate 86.4%), with a median follow-up time of 79.4 (12.0-188.0) months. During the follow-up, 53 children underwent surgical re-intervention due to residual, including 33 males and 20 females, with a median age of 62.5 (17.0-214.0) months. The median surgical weight was 19.0 (8.2-86.0) kg, and the mean time of re-intervention was 28.0-170.0 (77.5±45.4) months after the ASO. Residual problems included common trunk and branch stenosis of the pulmonary artery in 23 patients, right ventricular outflow tract (RVOT) obstruction in 11 patients, left ventricular outflow tract obstruction in 6 patients, aortic arch restenosis in 5 patients, aortic insufficiency in 5 patients, residual shunt of ventricular septal defect in 2 patients, and tricuspid valve insufficiency in 1 patient. The early postoperative mortality rate was 3.8% (2/53), with the causes of death being acute myocardial infarction due to coronary artery injury and acute left heart failure, respectively. The mean follow-up time of the surviving children was (52.4±28.6) months, and no mid- and long-term death occurred. Two patients underwent the third operations due to pulmonary restenosis. The multivariate analysis result showed that combined aortic arch surgery and early postoperative RVOT velocity>3 m/s were independent risk factors for mid- and long-term residual after ASO. Conclusion ASO is an ideal procedure for the treatment of D-TGA/IVS, D-TGA/VSD and Taussig-Bing malformations. Combined aortic arch surgery and early postoperative RVOT velocity>3 m/s are independent risk factors for mid- and long-term residual after ASO.

Objective To analyze the clinical efficacy of right midaxillary straight incision surgery in the treatment of doubly committed subarterial ventricular septal defect. Methods The clinical data of children with doubly committed subarterial ventricular septal defect who received surgeries in our hospital from August 2020 to July 2023 were analyzed retrospectively. All the children underwent surgical repair and were divided into two groups according to the incision position, including a right midaxillary straight incision group and a median incision group. The outcomes were compared between the two groups. Results A total of 187 patients were enrolled. There were 102 patients in the right midaxillary straight incision group, including 55 males and 47 females with a median age of 26.0 (5.0, 127.0) months and a median weight of 12.5 (5.1, 32.8) kg at surgery. There were 85 patients in the median incision group, including 37 males and 48 females with a median age of 4.0 (2.0, 168.0) months and a median weight of 6.7 (4.8, 53.9) kg at surgery. No mortality occurred in the study. There was no statistical difference between the two groups in the cardiopulmonary bypass time [(50.0±18.4) min vs. (46.1±15.7) min] or aortic cross-clamping time [(31.3±18.6) min vs. (26.3±17.5) min] (P>0.05). Compared to the median incision group, the time from the end of cardiopulmonary bypass to the closure of chest [(22.3±15.6) min vs. (37.1±13.4) min, P<0.001], postoperative hospital stay [(6.9±3.9) d vs. (8.6±3.6) d, P=0.002], the length of incision [(4.3±2.7) cm vs. (8.5±3.2) cm, P<0.001], drainage volume [(79.0±32.2) mL vs. (100.2±43.1) mL, P<0.001], and the pain score on the 2nd and the 3rd day after the operation were statistically better in the right midaxillary straight incision group (P<0.05). The medical experience and incision satisfaction scores at discharge of the right midaxillary straight incision group were higher (P<0.05). During the follow-up of 21.0 (1.0, 35.0) months, no residual shunt was detected and all patients in both groups had a normal cardiac function and mild or less valve regurgitation. Conclusion Compared to the median incision, minimally invasive right midaxillary straight incision for the repair of doubly committed subarterial ventricular septal defect offers comparable efficacy and reliability, with the added advantages of being minimally invasive, cosmetically superior, and promoting faster postoperative recovery.

Objective:To analyze and explore the selection of secondary intervention strategies for residual issues following congenital aortic valve disease surgery in children, as well as to evaluate their prognostic efficacy.Methods:A retrospective analysis was conducted on the clinical data of 41 children with residual issues after congenital aortic valve disease surgery, who were treated at the Department of Cardiovascular and Thoracic Surgery, Shanghai Children's Medical Center, between January 2013 and August 2024. Among them, 25 were male and 16 were female, with a mean age of(116.8±45.1)months and a mean weight of(40.0±20.2)kg. The mean interval for secondary intervention was(60.0±36.4)months. The residual issues included aortic valve insufficiency(20 cases), aortic valve stenosis(11 cases), and combined aortic valve insufficiency and stenosis(10 cases).Results:Secondary interventions included aortic valve repair(7 cases), mechanical valve replacement(20 cases), Ross procedure(13 cases), and Ozaki procedure(1 case). Additionally, 5 cases with left ventricular outflow tract stenosis underwent concomitant Konno surgery.One case of early postoperative in-hospital death occurred, with a mortality rate of 2.4%, primarily due to acute left heart failure and multiple organ dysfunction. The average follow-up period for surviving children was( 64.6±34.5) months(5-147 months), with no mid- to long-term mortality. Follow-up results showed that In surviving children, the left heart showed significant reduction in size postoperatively, with the LVEDD Z-score decreasing from 1.24±2.23 before surgery to -0.97±1.48( P=0.001). Postoperative LVEF 0.66±0.06 showed no significant difference compared to pre-reintervention 0.68±0.10( P=0.140). In aortic stenosis(AS) patients, the peak transvalvular pressure gradient decreased from(69.5±19.8) mmHg(1 mmHg=0.133 kPa) preoperatively to(25.1±10.9) mmHg postoperatively( P=0.003). In aortic insufficiency(AI) patients, the width of the aortic regurgitation jet decreased from(5.8±1.1) mm preoperatively to(2.7±1.1) mm postoperatively( P=0.012). 97.5% of children maintained mild-to-moderate aortic regurgitation(jet width <4 mm), with only 1 case of moderate regurgitation(jet width 4.4 mm)remaining under close observation.Two children underwent reoperation on the aortic valve, with a tertiary intervention rate of 5.0%. One case underwent redo commissurotomy 21 months after aortic valve repair due to recurrent stenosis, and the other underwent mechanical valve replacement 34 months after the Ozaki procedure due to leaflet calcification and infective endocarditis. Mid-term follow-up revealed good cardiac function recovery in surviving children, with 87.5% achieving NYHA functional class Ⅰ/Ⅱ. Conclusion:Due to the demands of growth and development and the degenerative nature of valve tissue, residual issues are inevitable in the mid- to long-term following congenital aortic valve disease surgery in children, often necessitating secondary intervention. Given the lack of suitable autologous valve tissue, the use of aortic valve replacement has significantly increased in secondary interventions. The Ross procedure, as an ideal secondary intervention, demonstrates satisfactory mid-term follow-up outcomes. For children with high-risk factors for the Ross procedure, mechanical valve replacement also yields favorable prognoses.

The complement component 4 binding protein alpha(C4BPA)gene is the alpha chain of complement binding protein 4.As a plasma protein involved in the complement and coagulation systems,it can influence immune responses and lipid metabolism.In order to study the polymor-phism of C4BPA gene and its correlation with milk quality traits in Chinese Holstein cows,genom-ic DNA was extracted from blood samples of 92 Chinese Holstein cows,and the target fragment of C4BPA gene was amplified by PCR,and the association analysis was performed by using direct se-quencing to obtain the SNP loci and milk quality traits.The results showed that among the four SNPs found at the third intron of the C4BPA gene,I3-11 G＞A was highly significantly correlated with milk protein and urea nitrogen(P＜0.05),I3-291 T＞G was significantly correlated with lac-tose(P＜0.05),I3-374 C＞T was highly significantly correlated with lactose and urea nitrogen(P＜0.05),and I3-375 T＞G was highly significantly correlated with lactose(P＜0.05),milk pro-tein and urea nitrogen.The chi-square test values for each point indicated that the population was in genetic equilibrium.Individuals of haplotype combination H1 H1 had the highest lactose content,and haplotype combination H1H2 can be used as the best haplotype combination in the molecular selection work of dairy cows.

Objective:To analyze and explore the selection of secondary intervention strategies for residual issues following congenital aortic valve disease surgery in children, as well as to evaluate their prognostic efficacy.Methods:A retrospective analysis was conducted on the clinical data of 41 children with residual issues after congenital aortic valve disease surgery, who were treated at the Department of Cardiovascular and Thoracic Surgery, Shanghai Children's Medical Center, between January 2013 and August 2024. Among them, 25 were male and 16 were female, with a mean age of(116.8±45.1)months and a mean weight of(40.0±20.2)kg. The mean interval for secondary intervention was(60.0±36.4)months. The residual issues included aortic valve insufficiency(20 cases), aortic valve stenosis(11 cases), and combined aortic valve insufficiency and stenosis(10 cases).Results:Secondary interventions included aortic valve repair(7 cases), mechanical valve replacement(20 cases), Ross procedure(13 cases), and Ozaki procedure(1 case). Additionally, 5 cases with left ventricular outflow tract stenosis underwent concomitant Konno surgery.One case of early postoperative in-hospital death occurred, with a mortality rate of 2.4%, primarily due to acute left heart failure and multiple organ dysfunction. The average follow-up period for surviving children was( 64.6±34.5) months(5-147 months), with no mid- to long-term mortality. Follow-up results showed that In surviving children, the left heart showed significant reduction in size postoperatively, with the LVEDD Z-score decreasing from 1.24±2.23 before surgery to -0.97±1.48( P=0.001). Postoperative LVEF 0.66±0.06 showed no significant difference compared to pre-reintervention 0.68±0.10( P=0.140). In aortic stenosis(AS) patients, the peak transvalvular pressure gradient decreased from(69.5±19.8) mmHg(1 mmHg=0.133 kPa) preoperatively to(25.1±10.9) mmHg postoperatively( P=0.003). In aortic insufficiency(AI) patients, the width of the aortic regurgitation jet decreased from(5.8±1.1) mm preoperatively to(2.7±1.1) mm postoperatively( P=0.012). 97.5% of children maintained mild-to-moderate aortic regurgitation(jet width <4 mm), with only 1 case of moderate regurgitation(jet width 4.4 mm)remaining under close observation.Two children underwent reoperation on the aortic valve, with a tertiary intervention rate of 5.0%. One case underwent redo commissurotomy 21 months after aortic valve repair due to recurrent stenosis, and the other underwent mechanical valve replacement 34 months after the Ozaki procedure due to leaflet calcification and infective endocarditis. Mid-term follow-up revealed good cardiac function recovery in surviving children, with 87.5% achieving NYHA functional class Ⅰ/Ⅱ. Conclusion:Due to the demands of growth and development and the degenerative nature of valve tissue, residual issues are inevitable in the mid- to long-term following congenital aortic valve disease surgery in children, often necessitating secondary intervention. Given the lack of suitable autologous valve tissue, the use of aortic valve replacement has significantly increased in secondary interventions. The Ross procedure, as an ideal secondary intervention, demonstrates satisfactory mid-term follow-up outcomes. For children with high-risk factors for the Ross procedure, mechanical valve replacement also yields favorable prognoses.

Objective To summarize and explore the individualized surgical treatment strategy and prognosis of anomalous aortic origin of coronary artery (AAOCA). Methods The clinical data of children with AAOCA admitted to Shanghai Children's Medical Center from March 2018 to August 2021 were retrospectively analyzed. Results A total of 17 children were enrolled, including 13 males and 4 females, with a median age of 88 (44, 138) months and a median weight of 25 (18, 29) kg. All patients received operations. The methods of coronary artery management included coronary artery decapitation in 9 patients, coronary artery transplantation in 5 patients and coronary artery perforation in 3 patients. One patient with severe cardiac insufficiency (left ventricular ejection fraction 15%) received mechanical circulatory assistance after the operation for 12 days. No death occurred in the early postoperative period, the average ICU stay time was 4.3±3.0 d, and the total hospital stay was 14.4±6.1 d. All the children received regular anticoagulation therapy for 3 months after discharge. The median follow-up time was 15 (13, 24) months. All patients received regular anticoagulation therapy for 3 months after discharge. No clinical symptoms such as chest pain and syncope occurred again. The cardiac function grade was significantly improved compared with that before operation. Imaging examination showed that the coronary artery blood flow on the operation side was unobstructed, and no restenosis occurred. Conclusion AAOCA is easy to induce myocardial ischemia and even sudden cardiac death. Once diagnosed, operation should be carried out as soon as possible. According to the anatomic characteristics of coronary artery, the early effect of individualized surgery is satisfactory, and the symptoms of the children are significantly improved and the cardiac function recovers well in the mid-term follow-up.

A 2-year-old boy was admitted to Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine in Nov 30^th, 2018, due to polydipsia, polyphagia, polyuria accompanied with increased glucose levels for more than 2 weeks. He presented with symmetrical short stature [height 81 cm (－2.2 SD), weight 9.8 kg (－2.1 SD), body mass index 14.94 kg/m² (P₁₀-P₁₅)], and with no special facial or physical features. Laboratory results showed that the glycated hemoglobin A1c was 14%, the fasting C-peptide was 0.3 ng/mL, and the islet autoantibodies were all negative. Oral glucose tolerance test showed significant increases in both fasting and postprandial glucose, but partial islet functions remained (post-load C-peptide increased 1.43 times compared to baseline). A heterozygous variant c.1366C>T (p.R456C) was detected in GATA6 gene, thereby the boy was diagnosed with a specific type of diabetes mellitus. The boy had congenital heart disease and suffered from transient hyperosmolar hyperglycemia after a patent ductus arteriosus surgery at 11 months of age. Insulin replacement therapy was prescribed, but without regular follow-up thereafter. The latest follow-up was about 3.5 years after the diagnosis of diabetes when the child was 5 years and 11 months old, with the fasting blood glucose of 6.0-10.0 mmol/L, and the 2 h postprandial glucose of 17.0-20.0 mmol/L.
Male ; Child ; Humans ; Child, Preschool ; Infant ; Diabetes Mellitus, Type 2/complications* ; Mutation, Missense ; C-Peptide/genetics* ; China ; Insulin/genetics* ; Glucose ; Blood Glucose ; GATA6 Transcription Factor/genetics*

Objective    To compare and investigate the efficacy and differences of modified B-T shunt, central shunt and right ventricle-pulmonary artery (RV-PA) connection in the treatment of pulmonary atresia with ventricular septal defect (PA/VSD). Methods    A total of 124 children with PA/VSD underwent initial palliative repair in Shanghai Children's Medical Center from September 2014 to August 2019, including 63 males and 61 females, aged 7 days to 15 years. They were divided into in a modified B-T shunt group (55 patients), a central shunt group (22 patients) and a RV-PA connection group (47 patients). The clinical data of these children were retrospectively analyzed. Results    There were 9 early deaths after palliation, with an early mortality rate of 7.3%. The mean follow-up time was 26.5±20.3 months, with 5 patients lost to follow-up, 5 deaths during the follow-up period, and 105 survivors. The 1-year and 5-year survival rates were both 89.7%. The monthly increased Nakata index was 5.2 (–0.2, 12.3) mm2/m2, 9.2 (0.1, 23.6) mm2/m2, 6.3 (1.8, 23.3) mm2/m2 in the modified B-T shunt group, the central shunt group, and the RV-PA connection group, respectively, with no statistical difference among the three groups. The 1-year survival rate was 85.3%, 78.4%, 95.2%, and the 5-year (4-year in the central shunt group) survival rate was 85.3%, 58.8%, 95.2% in the three groups, respectively, with a statistical difference among them (P<0.05). The complete repair rate was 36.5%, 19.0% and 67.4% in the three groups, respectively, with a statistical difference among the three groups (P<0.001). Conclusion    All these three palliative surgical approaches can effectively promote pulmonary vascular development. But compared with systemic-pulmonary shunt, RV-PA connection has a lower perioperative mortality rate and can achieve a higher complete repair rate at a later stage, which is beneficial for long-term prognosis.

Objective    To compare and analyze the effect of myocardial protection between HTK and del Nido cardioplegia solutions in neonates with surgeries for transposition of the great arteries. Methods    The clinical data of 208 neonates with complete transposition of the great arteries in our institution from 2014 to 2020 were retrospectively analyzed. According to the cardioplegia solutions utilized in the operations, the patients were divided into two groups: a HTK group and a del Nido group. Propensity score matching was conducted to eliminate the biases. The cardiopulmonary bypass time, aortic cross-clamping time, total amount of cardioplegia solutions, transfusion frequency of cardioplegia, ICU stay time, mechanical support time, inotropic score, hospital stay, left ventricular ejection fraction, N-terminal proBNP and troponin I were compared and analyzed between the two groups after matching. Results    After 1:1 propensity score matching, a total of 54 patients were analyzed with 27 patients in each group. In the HTK group, there were 22 males and 5 females with a median age of 7.0 (2.0, 11.0) d. In the del Nido group, there were 23 males and 4 females with a median age of 8.0 (3.0, 11.0) d. A total of 3 children died after the surgery: 2 (7.4%) patients in the HTK group and 1 (3.7%) patient in the del Nido group. There was no significant difference in hospital mortality between the two groups (P=1.000). The total amount of cardioplegia solutions in the HTK group was significantly higher than that of del Nido group (P<0.001). Transfusion frequency of cardioplegia in del Nido group was significantly higher than that of the HTK group (P=0.043). There was no significant difference in the postoperative ICU time, mechanical support time, length of hospital stay, inotropic score, left ventricular ejection fraction, N-terminal B-type natriuretic peptide precursor or troponin I between the two groups (P>0.05). Conclusion    For neonates with surgeries for complete transposition of the great arteries, HTK cardioplegia solutions can provide effective and safe myocardial protection, which is similar to del Nido cardioplegia solutions.