Objective To compare the efficacy and safety of oral ibuprofen and indomethacin for the closure of patent ductus arteriosus (PDA) in preterm infants and investigate the factors affecting the effect of indomethacin.Methods Two hundred and four preterm infants with symptomatic PDA were enrolled in this retrospective study.They were divided into two groups accroding to the admission date.From Jan.1,2007 to Dec.30,2009,44 infants orally administered ibuprofen (one course:first dose was 10 mg/kg,followed by two doses of 5 mg/kg at 24 h intervals) were as ibuprofen group.From Dec.31,2009 to Jan.31,2011,160 infants orally administered indomethacin (one course:0.2 mg/kg,at 12 h and 24 h intervals for three times) were as indomethacin group.Chisquare test,t test and rank sum test were used to compare the rate of ductal closure,side effects and complications of two groups.Influence factors of indomethacin therapy were analyzed with Logistic regression.Results There were no differences of overall ductal closure rate [77.3％ (34/44) vs 70.6％ (113/160),x2 =0.757,P＞0.05],one course therapy [68.2％ (30/44) vs 63.8％(102/160),x2=0.297,P＞0.05] and two courses therapy closure rate [9.1％ (4/44) vs 6.9％(11/160),x2 =0.030,P＞0.05] between i buprofen group and indomethacin group.The incidences of oliguria [＜1 ml/(kg ? h)] and high serum creatinine (＞88 μmol/L) of indomethacin group were higher than those in ibuprofen group [21.3％ (34/160) vs 6.8％ (3/44),x2=4.841,P=0.028;26.9％ (43/160) vs 9.1％ (4/44),x2=6.156,P=0.013].Logistic regression analysis showed that small gestational age (OR=2.563,95％CI:1.099-5.976,P=0.029),neonatal respiratory distress syndrome (OR=2.407,95％CI:1.023-5.664,P=0.044)and septicemia (OR=4.575,95％CI:1.782-26.768,P=0.009) were unfavorable factors for ductal closure in preterm infants underwent indomcthacin therapy,while antenatal steroid (OR=0.530,95％CI:0.312-0.901,P=0.018) was a favorable factor.Conclusions Oral ibuprofen have the same effects as indomethacin on PDA treatment in preterm infants,but with fewer side effects on renal function in terms of urine output and serum creatinine level.Some factors such as septicemia may affect the theraputic effects.

Objective To investigate the treatment of symptomatic patent ductus arteriosus (PDA) in very low birth weight preterm infants. Methods From January 1, 2008 to December 31, 2010, 78 very low birth weight preterm infants (birth weight＜1500 g) were diagnosed as symptomatic PDA. Among which, 42 cases administered orally with indomethacin (0.2 mg/kg, every 12 hrs for three times) were taken as treatment group, while five cases in this group who failed to indomethacin treatment were interrupted with video-assisted thoracoscopic surgery. And 36 cases who did not receive treatment for ductus arteriosus were taken as control group. The clinical outcomes, complications and prognosis of these patients were observed. Results There were no significant differences between the gentle percentage, gestational age, diameter of ductus arteriosus, rate of complicated with heart failure, sepsis, neonatal respiratory distress syndrome and intraventricular hemorrhage of two groups (P>0.05, respectively). The ductus arteriosus closed in 33 patients of treatment group (78.6%) and in nine patients of control group (25.0%)(χ2=22.39,P=0.000). There were no significant differences in serum creatinine level and platelet count between before and after the treatment in treatment group(P>0.05). Compared with control group, the treatment group had lower incidence of intraventricular hemorrhage (z=1.167, P=0.030), shorter duration of oxygen therapy [(8.0±5.5) d vs (13.3±9.3) d, t=2.225, P=0.032] and shorter hospital stay [(39.0±7.7) d vs (43.6±10.6) d, t=2.229, P=0.029]; while the incidence of bronchopulmonary dysplasia and necrotizing enterocolitis were similar (P>0.05). The five cases of PDA who received video-assisted thoracoscopic surgery were successfully interrupted with no residual shunt left, while three of them had lung infections and one had pleural effusion, but no pneumothorax and infant death associated with surgery occurred. Conclusions Symptomatic PDA of very low birth weight preterm infants should be treated actively. Oral indomethacin was an effective and safe method to cure the PDA in these infants. Surgical ligation under video-assisted thoracoscopic surgery after failure of indomethacin treatment might be a good option.

Objective To evaluate the role of ibuprofen and hydrocortisone in early treatment of patent ductus arteriosus ( PDA ) in premature infants with low cortisol level . Method A prospective randomized controlled trial on 144 very low birth weight infants in the Hospital within 24 hours after birth with gestational age of 28~32 weeks and birth weight of 1000~1499 grams,who had asymptomatic PDA diagnosed by echocardiography , introducing early administration of drugs including ibuprofen and /or hydrocortisone within the first 24 ~48 hours after birth.According to the baseline of serum cortisol level measured prior to the administration of drugs , the preterm were assigned into two groups .The low cortisol level group ( the cortisol level <150μg/L) were further subdivided into four groups each being allocated to hydrocortisone or ibuprofen or both of hydrocortisone and ibuprofen combined or placebo treatment .The high cortisol level group ( the cortisol level≥150μg/L) were allocated to either ibuprofen or placebo treatment in randomization.Diameter of ductus arteriosus and cortisol value were measured again after treatment , and the follow-ups were undertaken till discharge .All data was collected and analyzed by statistical software .Result A total of 91 cases were in low cortisol level group ( 22 cases of hydrocortisone , 23 cases of ibuprofen , 21 cases of both hydrocortisone and ibuprofen , and 25 cases of placebo ) and 53 cases in high cortisol level group (26 cases of placebo and 27 cases of Ibuprofen ).Low cortisol level group , combined therapy , closure of the ductus at a rate of 81.0%, was higher than other methods of therapy ( P<0.05);high cortisol level group, the ductus arteriosus closed in 20 patients of ibuprofen therapy ( 74.1%) and in 13 patients of placebo treatment (50.0%) (P<0.05).Early treatment did not significantly increase the drug adverse effects, including impaired renal function , gastrointestinal bleeding , hyperglycemia and others. After comparisons between laboratory changes in early targeted groups and non-early targeted groups after treatment, findings were as follows: decrease in the incidence of apnea , myocardial damage , feeding intolerance , intraventricular hemorrhage and reduce the duration of phototherapy .Conclusion This trial proved the efficacy and safety of early therapy with ibuprofen and hydrocortisone for closure of ductus arteriosus in premature infants with low cortisol level and the decreasing incidence of complications due to PDA without increasing the risk of adverse effects .

Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.

Abstract OBJECTIVE To explore the effect of the polymorphisms of ATM(rs11212617), KCNJ11(rs5219), CYP2C9(rs1799853, rs1057910), TCF7L2(rs12255372, rs290487) and IRS1(rs1801278) on efficacy of metformin and gliclazide combined treatment for diabetes mellitus type 2. METHODS Eighty-one patients with newly diagnosed diabetes mellitus type 2 in Standardized Metabolic Disease Management Center of the Endocrinology Department of of Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital were enrolled in this study, and they were treated with metformin hydrochloride tablets and gliclazide modified release tablets. MassARRAY was used to type the above single nucleotide polymorphism(SNP), and followed up for 3 months. Fasting plasma glucose(FPG), glycosylated hemoglobin type Alc(HbA1c) and fasting insulin(FINS) were compared before and after treatment. RESULTS The gene frequencies of all SNPs were compliant to Hardy-Weinberg equilibrium, the samples were well represented. The rs1799853, rs1057910, rs12255372 and rs1801278 had low mutation frequencies with poor clinical significance. The benefits of FPG compliance rate, increase of FINS, decrease of HbAlc after treatment were stronger in patients with homozygous rs5219 C allele than those with T-allele carriers (P<0.05). However, there were no significant differences in treatment effects among the genotypes of rs11212617 and rs290487. CONCLUSION The rs5219 polymorphism of KCNJ11 gene is associated with the efficacy of metformin hydrochloride tablets and gliclazide modified release tablets in treating diabetes mellitus type 2, with a more significant effect observed in individuals homozygous for the C allele. This finding can serve as a reference for personalized medication in clinical treatment of diabetes mellitus type 2.