[A clinical analysis of bacterial meningitis in full-term and preterm infants].

OBJECTIVE: To study the clinical features and prognosis of bacterial meningitis in full-term and preterm infants. METHODS: A retrospective analysis was performed for the clinical data of 102 neonates with bacterial meningitis. According to the gestational age, they were divided into a preterm group (n=46) and a full-term group (n=56). The two groups were compared in terms of clinical manifestations, laboratory markers, imaging findings, and clinical outcomes. RESULTS: Poor response and apnea were the major clinical manifestations in the preterm group (P<0.05), while pyrexia and convulsions were more common in the full-term group (P<0.05). The full-term group had a significantly higher glucose level in cerebrospinal fluid (CSF) than the preterm group (P<0.05). Compared with the full-term group, the preterm group had significantly higher C-reactive protein level, positive rate of blood culture, and incidence rate of poor prognosis (P<0.05). There were no significant differences between the two groups in leukocyte count in peripheral blood, levels of leukocytes and protein in CSF, and positive rate of CSF culture (P>0.05). CONCLUSIONS: There are certain differences in the clinical manifestations between full-term and preterm infants with bacterial meningitis. Preterm infants tend to have a higher incidence rate of poor prognosis.

[Efficacy of different preparations of budesonide combined with pulmonary surfactant in the treatment of neonatal respiratory distress syndrome: a comparative analysis].

OBJECTIVE: To study the efficacy of different preparations of budesonide combined with pulmonary surfactant (PS) in improving blood gas levels and preventing bronchopulmonary dysplasia (BPD) in preterm infants with neonatal respiratory distress syndrome (NRDS). METHODS: A total of 184 preterm infants who developed NRDS within 4 hours after birth were randomly administered with PS + continuous inhalation of budesonide aerosol (continuous aerosol group), PS+budesonide solution (solution group), PS + single inhalation of budesonide aerosol (single aerosol group), and PS alone, with 46 neonates in each group. The changes in arterial blood gas levels, rate of invasive mechanical ventilation after treatment, time of assisted ventilation, rate of repeated use of PS, and the incidence of BPD were compared between the four groups. RESULTS: On the 2nd to 4th day after treatment, pH, PCO2, and oxygenation index (FiO2/PaO2) showed significant differences among the four groups, and the continuous aerosol group showed the most improvements of all indicators, followed by the solution group, single aerosol group, and PS alone group. The continuous aerosol group had a significantly shorter time of assisted ventilation than the other three groups (P<0.05). The solution group had a significantly shorter time of assisted ventilation than the single aerosol and PS alone groups (P<0.05). The rate of invasive mechanical ventilation after treatment, rate of repeated use of PS, and incidence of BPD showed significant differences among the four groups (P<0.05), and the continuous aerosol group had the lowest rates, followed by the solution group. CONCLUSIONS: A combination of PS and continuous inhalation of budesonide aerosol has a better efficacy in the treatment of NRDS than a combination of PS and budesonide solution. The difference in reducing the incidence of BDP between the two administration methods awaits further investigation with a larger sample size.

[Association between polymorphism of IRF6 rs2235371 locus and nonsyndromic cleft lip with or without cleft palate].

OBJECTIVE: To assess the association between polymorphism of interferon regulatory factor 6 (IRF6) gene rs2235371 locus and nonsyndromic cleft lip with or without cleft palate in Chinese population. METHODS: Blood samples from 106 patients and their parents and 129 controls and their parents were collected. The polymorphism of IRF6 rs2235371 locus was determined with PCR-restriction fragment length polymorphism (PCR-RFLP) method. Case-control analysis, transmission disequilibrium test(TDT), haplotype-based haplotype relative risk analysis (HHRR) and family-based association test (FBAT) were carried out. RESULTS: By case-control analysis, no significant difference was found in the frequencies of GG, GA and AA genotypes of rs2235371 locus between the patient group and control group (P> 0.05), but there was a significant difference in allelic frequencies (P< 0.05). There was also a significant difference in genotype and gene frequencies of rs2235371 variant between family members from cleft lip only group and control group. However, in cleft lip with cleft palate group, no such difference was observed. TDT analysis suggested a linkage in the presence of disequilibrium (chi-square=5.56, P=0.024). Results of HHRR analysis (chi-square=5.115, P=0.024) and FBAT (Z=2.218, P=0.027) also indicated an association between IRF6 rs2235371 variant and the risk of NSCL with or without cleft palate. CONCLUSION: Genetic polymorphism of IRF6 gene rs2235371 locus is associated with NSCL with or without cleft palate.

Causes of severe neonatal hyperbilirubinemia: a multicenter study of three regions in China.

BACKGROUND: Available evidence suggests that our country bear great burden of severe hyperbilirubinemia. However, the causes have not been explored recently in different regions of China to guide necessary clinical and public health interventions. METHODS: This was a prospective, observational study conducted from March 1, 2018, to February 28, 2019. Four hospitals in three regions of China participated in the survey. Data from infants with a gestational age ≥ 35 weeks, birth weight ≥ 2000 g, and total serum bilirubin (TSB) level ≥ 17 mg/dL (342 µmol/L) were prospectively collected. RESULTS: A total of 783 cases were reported. Causes were identified in 259 cases. The major causes were ABO incompatibility (n = 101), glucose-6-phosphate dehydrogenase deficiency (n = 76), and intracranial hemorrhage (n = 70). All infants with glucose-6-phosphate dehydrogenase deficiency were from the central south region. Those from the central south region had much higher peak total bilirubin levels [mean, 404 µmol/L; standard deviation (SD), 75 µmol/L] than those from the other regions (mean, 373 µmol/L; SD, 35 µmol/L) (P < 0.001). CONCLUSIONS: ABO incompatibility was the leading cause in the east and northwest regions, but cases in the central south region were mainly caused by both ABO incompatibility and glucose-6-phosphate dehydrogenase deficiency, and infants in this region had a much higher peak total bilirubin level. Intracranial hemorrhage may be another common cause. More thorough assessments and rigorous bilirubin follow-up strategies are needed in the central south region.

Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in Shenyang, China.

OBJECTIVES: To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan. METHODS: Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P. Blood of every member was drawn for DNA extraction and analysis. Genotypes were available for 382 autosomal short tandem repeat (STR) markers from the ABI Prism Linkage Mapping Set version 2.5. Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores, multipoint-heterogeneity parametric LOD scores (HLODs), and multipoint nonparametric linkage score (NPL). RESULTS: The initial scan suggested linkage on Chromosomes 1, 2, and 15. In subsequent fine mapping, 1q32-q42 showed a maximum multipoint LOD score of 1.9(empirical P=0.013) and an NPL score of 2.35 (empirical P=0.053). For 2p24-p25, the multipoint NPL increased to 2.94 (empirical P=0.007). 2-locus interaction analysis obtained a maximum NPL score of 3.73 (P=0.00078) and a maximum LOD score of 3 for Chromosome 1 (at 221 cM) and Chromosome 2 (at 29 cM). CONCLUSION: Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42, suggesting a susceptibility locus in this region. Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25. The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25, and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction.

Magnetic compression anastomosis for rectal atresia following necrotizing enterocolitis: A case report.

RATIONALE: Rectal atresia caused by necrotizing enterocolitis (NEC) is a serious and rare complication in children. Magnetic compression anastomosis (MCA) has been effectively applied in children with congenital oesophageal atresia and biliary atresia. Herein, we reported a case of successfully application of MCA in an infant with rectal atresia following NEC. PATIENT CONCERNS: A 30 weeks premature birth female fetal infant was transferred to our neonatal intensive care unit due to premature delivery, low birth weight, and neonatal respiratory distress. On postpartum day 11, the infant developed abdominal distension and mucosanguineous feces. This infant was then clinically diagnosed as NEC. She underwent anesthesia and intestinal fistula operation on postpartum day 11 because of NEC. DIAGNOSIS: After 3 months, radiographic examination revealed rectal atresia and stricture. INTERVENTIONS: This infant was successfully treated with MCA following a cecum-rectal anastomosis and ileocecal valve was reserved. OUTCOMES: On postoperative day 9, she passed the 2 magnets per rectum. In addition, there were no difficult defecation or fecal incontinence or other short-term complications. After the 7-month follow-up, the patient had an excellent clinical outcome. LESSONS: MCA is a feasible and effective method for treating rectal atresia in infants.

Magnetic compression for anastomosis in treating an infant born with long-gap oesophageal atresia: A case report.

RATIONALE: Neonatal long-gap esophageal atresia (LGEA) with tracheoesophageal fistula (TEF) is an uncommon but serious congenital malformation of the esophagus in newborns, and it remains challenging for pediatric surgeons. Magnetic compress has been shown to be effective for the treatment of LGEA in children and adults. However, the implementation of this unique technique for neonatal LGEA has not been evaluated. PATIENT CONCERNS: A female infant was born at 37 weeks of gestation. Prenatal ultrasound imaging revealed signs of esophageal atresia, including the absence of the gastric bubble and polyhydramnios. DIAGNOSES: A diagnosis of LGEA with TEF was confirmed at birth by contrast X-ray. INTERVENTIONS: She was treated with magnetic compression anastomosis (MCA) following an esophago-esophagostomy. Two magnetic rings were customized, and the MCA was conducted during the same stage surgery of ligating the TEF. Under the magnetic force, the 2 magnet rings pulled along the gastric tube to achieve anastomosis. The postoperative permanent suction of these 2 pouches was instituted, and spontaneous growth was awaited. Magnet removal was performed at 36 days, and enteral nutrition was continued via a gastric tube for 4 weeks at post-operation. OUTCOMES: The upper gastrointestinal contrast confirmed the anastomotic patency perfectly after 3 months. The patient was followed up for 18 months, and exhibited durable esophageal patency without dysphagia. LESSONS: These results suggest that MCA is feasible and effective for treating LGEA in infants.

[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate].

OBJECTIVE: To study the association of the A2756G polymorphism of the methionine synthase (MS) gene with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese. METHODS: Ninety-seven NSCL/P case-parent triads were selected as the case group. One hundred and four healthy subjects and their biological parents were selected as control group. For all subjects the A2756G polymorphism of the MS gene was examined by PCR-RFLP method. RESULTS: There was no statistical difference in genotype and allele frequencies for MS A2756G variants among family members between case group and control group. The GG genotype was not detected in the offsprings and mothers. The odds ratio and confidence interval of genotype AG in offspring, father and mother were 1.78(0.74-4.34), 0.80(0.36-1.79) and 1.26(0.54-2.93) respectively. The odds ratio and confidence interval of allele G in offspring, father and mother were 1.70(0.78-3.73), 0.88(0.49-1.75), and 1.23(0.59-2.60) respectively. The G allele did not increase the risk of NSCL/P. Transmission disequilibrium test (TDT) analysis yielded no evidence of linkage disequilibrium (chi-square=0.034,P>0.05). The results of haplotype-based haplotype relative risk (HHRR) analysis (chi-square=0.03,P>0.05) and family-based association tests (FBAT) (Z=0.186, P>0.05) failed to show association between the MS A2756G variant and the risk of NSCL/P. CONCLUSION: The A2756G polymorphism of the MS gene was not associated with NSCL/P in Chinese in the present study.

[Relationship between genetic polymorphisms of MTHFR C677T and nonsyndromic cleft lip with or without palate].

OBJECTIVE: To explore the relationship between genetic polymorphisms of MTHFR C677T and nonsyndromic cleft lip with or without palate in Chinese population. METHODS: There were 97 NSCL/P case-parent triads that were selected as case group. At the same period, 104 healthy subjects were selected together with their biological parents as control group. For all the subjects the polymorphism of MTHFR C677T was examined by PCR-RFLP method. RESULTS: There was no statistical difference in genotype and gene frequencies for MTHFR C677T variants among family members between case group and control group in the offspring, fathers and mothers. The odds ratio(OR) between heterozygotes (CT) versus wild homozygotes (CC) were 1.02 (95% CI 0.47-2.21), 0.62 (95% CI 0.29-1.32) and 0.66 (95% CI 0.31-1.40) in the offspring, fathers and mothers, respectively. The OR between mutant homozygotes(TT) versus wild homozygotes (CC) were 1.10 (95% CI 0.44-2.74), 0.95 (95% CI 0.39-2.32) and 0.68 (95% CI 0.28-1.66) in the offspring, fathers and mothers, respectively. The OR between allele (T) versus allele (C) were 1.07 (95% CI 0.72-1.58), 0.98 (95% CI 0.66-1.46) and 0.83 (95% CI 0.56-1.24) in the offspring, fathers and mothers, respectively. T allele could not increase the risk of NSCL/P. For the MTHFR gene C677T variant, transmission disequilibrium test (TDT) analysis yielded no evidence of linkage in the presence of disequilibrium (chi(2) = 1.817, P > 0.05). Results of haplotype-based haplotype relative risk (HHRR) analysis (chi(2) = 1.76, P > 0.05) and family-based association tests (FBAT) (Z = 1.348, P > 0.05) also showed that there was no association between MTHFR C677T variant and the risk of NSCL/P . CONCLUSION: No association between genetic polymorphism of MTHFR C677T and NSCLP was observed. Our findings suggest that the MTHFR gene variations C677T do not contribute to the development of NSCLP in Chinese population.