Cholestasis, characterized by the obstruction of bile flow, poses a significant concern in neonates and infants. It can result in jaundice, inadequate weight gain, and liver dysfunction. However, distinguishing between biliary atresia (BA) and non-biliary atresia in these young patients presenting with cholestasis poses a formidable challenge, given the similarity in their clinical manifestations. To this end, our study endeavors to construct a screening model aimed at prognosticating outcomes in cases of BA. Within this study, we introduce a wrapper feature selection model denoted as bWFMVO-SVM-FS, which amalgamates the water flow-based multi-verse optimizer (WFMVO) and support vector machine (SVM) technology. Initially, WFMVO is benchmarked against eleven state-of-the-art algorithms, with its efficiency in searching for optimized feature subsets within the model validated on IEEE CEC 2017 and IEEE CEC 2022 benchmark functions. Subsequently, the developed bWFMVO-SVM-FS model is employed to analyze a cohort of 870 consecutively registered cases of neonates and infants with cholestasis (diagnosed as either BA or infantile hepatitis) from Xinhua Hospital and Shanghai Children's Hospital, both affiliated with Shanghai Jiao Tong University. The results underscore the remarkable predictive capacity of the model, achieving an accuracy of 92.639% and specificity of 88.865%. Gamma-glutamyl transferase, triangular cord sign, weight, abnormal gallbladder, and stool color emerge as highly correlated with early symptoms in BA infants. Furthermore, leveraging these five significant features enhances the interpretability of the machine learning model's performance outcomes for medical professionals, thereby facilitating more effective clinical decision-making.

The kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by hyperextensible skin and joints, kyphoscoliosis, and severe muscle hypotonia at birth. Causal variants have been identified in PLOD1 resulting in lysyl hydroxylase deficiency responsible for kEDS. However, the detailed phenotype of kEDS during the perinatal period is still poorly recognized. Here, we describe a case of a female newborn presenting with prenatal hydrocephalus and severe hypotonia after birth with two novel compound heterozygous variants, c.2T > C (p.?) and c.1462del (p. Arg488Glyfs*9) in the PLOD1 gene. Our case suggests that in addition to the reported phenotype during the neonatal period, prenatal hydrocephalus should also be differentially diagnosed to exclude the potential of kEDS.

Background: To evaluate the safety and neurological outcomes of therapeutic hypothermia to neonatal hypoxic-ischemic encephalopathy (HIE). Materials and Methods: Medical records of 61 neonates with moderate to severe HIE were retrospectively enrolled and divided into a therapeutic hypothermia group (n = 36) and conventional therapy group (n = 25). Results: No significant difference in the incidence of severe adverse events was found between the two groups. Minimum and maximum voltages of amplitude-integrated electroencephalography (aEEG) recording results showed statistically significant differences in therapeutic hypothermia group after 72 h. The neonatal behavioral neurological assessment (NBNA) on the 28th day after birth and Bayley Scales of Infant Development, second edition (BSID II) scores at 18 months old were significant higher in the therapeutic hypothermia group than the conventional therapy group. Conclusion: Therapeutic hypothermia for neonates with moderate to severe HIE improved the development of the nervous system in 0-18-month-old infants and showed a predominant role in reducing death and major neuron development-associated disabilities.

目的:探讨尿苷二磷酸葡萄糖醛酸转移酶1A1（uridine diphosphate-glucuronosyl-transferase 1A1，UGT1A1）基因突变与新生儿不明原因重度高胆红素血症的关系。方法:采用回顾性病例对照研究的方法，选择2015年1月至2020年9月上海市儿童医院收治的不明原因重度高胆红素血症且取外周血进行UGT1A1基因检测的患儿为高胆组，选择千人基因组数据库收录的211位健康中国汉族人基因数据为对照组。记录患儿突变位点及突变频率，应用SPSS 23.0统计软件对两组进行比较，分析各突变位点与新生儿重度高胆红素血症发生的关系。结果:高胆组纳入240例，对照组纳入211例。高胆组单突变位点突变主要包括c.211G>A、c.1091C>T、c.1456T>G、c.-3279T>G及TA7插入突变，其中c.211G>A突变率最高，为65.0%（156/240），A等位基因频率高于对照组（43.8%比19.0%），差异有统计学意义（ P<0.001）；高胆组c.1456T>G突变率3.8%（9/240），G等位基因频率高于对照组（1.9%比0.2%），差异有统计学意义（ P<0.05）。二元Logistic回归分析显示c.211G>A突变可增加重度高胆红素血症的发生风险（ OR=2.777，95% CI 1.870~4.123）。 结论:UGT1A1基因c.211G>A突变是新生儿高胆红素血症患儿最常见的基因突变类型，可增加新生儿不明原因重度高胆红素血症的风险。

目的 探讨制定统一先天性梅毒(CS)诊断标准的必要性.方法 回顾分析2016年1月—2020年2月因母亲梅毒感染而入院的85例新生儿的临床资料,分别采用性传播疾病管理指南(2015)/2015美国儿科学会感染委员会报告(美国指南)、2014年欧洲梅毒管理指南(欧洲指南)和2015年版预防艾滋病、梅毒和乙肝母婴传播工作实施方案(中国方案)进行评估诊断,比较上述三种标准诊断CS的一致性.结果 将确诊/高度疑似或疑似病例归入CS,美国指南共诊断32例,欧洲指南诊断40例,中国方案诊断15例,三个标准共诊断40例,其中三个标准均符合者14例.美国指南和中国方案诊断病例均包含于欧洲指南诊断病例,美国指南和中国方案诊断病例重复例数为14例.10例梅毒螺旋体(Tp)试验阳性+长骨X线异常患儿中,7例因母亲孕前或孕期接受规范治疗未被美国指南诊断,其余仅3例因母孕期不规范治疗而被美国指南诊断,10例均未被中国方案诊断.Tp试验阳性+Tp-IgM阳性1例未被美国指南诊断,但均被其他两个标准所诊断.Tp试验阳性+其他指标阴性且母孕期不规范治疗15例未被中国方案诊断,但均被其他两个标准诊断.美国指南与欧洲指南、美国指南和中国方案一致性较强,加权κ值分别为0.611和0.705,而欧洲指南与中国方案一致性一般,加权κ值仅为0.304.结论 临床上制定统一的CS诊断标准非常必要.

Objective To study efficacy and safety of continuous renal replacement therapy (CRRT) in the treatment of neonatal sepsis-related acute kidney injury (AKI).Method From June 2011 to June 2018,neonates with sepsis-related AKI hospitalized in the neonatal intensive care unit of our hospital and treated with CRRT were enrolled.Before CRRT,12 h,24 h,48 h after CRRT and by the end of CRRT,their clinical data including renal function,acid-base balance,electrolytes,blood pressure (BP)and the change of hemodynamic indexes were retrospectively analysed.The efficacy and safety of CRRT was evaluated.Kruskal-wallis H test was used for statistical analysis.Result A total of 9 cases of sepsis-related AKI neonates were enrolled in the study,all treated with continuous veno-venous hemofiltration dialysis.5 cases had oliguria,2 cases fluid overload and 2 cases shock.The duration of CRRT was 49 ～ 110 h (76.2 ±23.5) h.12 h after CRRT,BP were maintained at 40 ～60 mmHg and stable during the treatment,the blood pH value increased to 7.35 ～ 7.45 and the oxygenation index reached 200 mmHg.24 h after CRRT,the oxygenation index rose to more than 300 mmHg.Serum potassium,urea nitrogen and creatinine levels decreased significantly after 12 h of CRRT,and reached the normal range after 24 h of CRRT.After 24 h of CRRT,the urine volume significantly increased.Venous catheterization was performed successfully in 9 cases.2 cases had thrombocytopenia,1 case catheterization obstruction and 1 case hypotension during CRRT.No complications such as hypothermia,hemorrhage,thrombosis or infection occurred.All 9 patients were cured and discharged.Conclusion CRRT is safe and effective for the treatment of neonatal sepsis-related AKI.

Objective To evaluate the safety,feasibility,complications and outcome of continuous renal replacement therapy (CRRT) in neonates weighting less than 3 000 g.Method A total of 6 neonates weighting less than 3 000 g treated with CRRT in the Department of Neonatology,Shanghai Children's hospital,from January 2015 to December 2017 were studied.The birth weight,primary disease,indications of CRRT,treatment duration,age,complications and outcome of the neonates were collected and analyzed.Serum creatinine (Scr),blood urea nitrogen (BUN) and blood ammonia were analyzed before and after CRRT.T test was used for statistical analysis of the data.Result (1) Among the 6 neonates,2 were full-term infants and 4 were premature infants.The average gestational age of the neonates was (35.0± 2.1) weeks and the average birth weight was (2 542±586) g.(2) The catheterization was successful in all of the 6 neonates.The model for CRRT was continuous veno-venous hemofiltration dialysis,and the duration was 50(48,154)h,the neonates' age of CRRT was 3.0(2.0,4.5)days.The primary disease included 3 perinatal asphyxia,1 hemolytic uremic syndrome,1 ornithine transcarboxylase deficiency,1 jejunal atresia.There were 5 patients with acute kidney injury and fluid overload,and another one with hyperammonemia.(3) Compared with before CRRT,serum creatinine,urea nitrogen and serum ammonia all decreased significantly and reached the normal range after CRRT.(4)The complications of CRRT in the 6 neonates included 2 hypotension,1 hypokalemia,1 hypocalcemia and 1 hypophosphatemia.Catheter related infection,blockage and other complications had not occurred.(5) After treatment,3 patients survived,1 witdrew and 2 died.Conclusion The application of CRRT in neonates with weight less than 3 000 g is safe and feasible,the prognosis and survival rate of which can be improved with fewer and controllable complications.

Feeding intolerance is associated with morbidity and mortality in preterm infants. Probiotics could improve feeding tolerance in those infants. This study aimed to examine the benefits and adverse effects of saline enema and probiotics on feeding tolerance and short-term outcomes of preterm infants. This was a retrospective study of consecutive infants (Shanghai Children's Hospital, 01/2013-06/2015). The infants were grouped as control (routine management), saline enema, probiotics, and saline enema + vprobiotics. The primary endpoint was postnatal age when achieving full enteral feeding. The secondary outcomes were postnatal age to regain birth weight, age at achieving a weight of 2500 g, complications, proportion of infants in whom feeding was withheld for any reason, age at meconium passage, and age at discharge. Compared with controls, the infants in the three treatment groups achieved full enteral feeding faster (median, 11.6 vs. 11.7, 11.3 and 14.7 days; P = 0.022), passed meconium significantly faster (median, 4.9, 4.9 and 4.5 vs. 8.3 days; P < 0.001), and regained birth weight faster (median, 7.8 vs. 6.5, 6.4 and 5.4 days, P < 0.001), but there were no difference among the saline enema + probiotics, saline enema, and probiotics groups. The frequencies of feeding intolerance (14.9%, 23.5% and 14.5% vs. 48.6%; P < 0.001) and necrotizing enterocolitis (4.5%, 5.7% and 4.2% vs. 27.0%, P < 0.001) were lower in the three study groups. There was no difference in sepsis (P = 0.33). In conclusion, saline enema and probiotics, either alone or together, had a significant positive effect on promoting feeding tolerance in preterm infants.

目的 描述和分析NICU出院早产儿0～24月龄生长状况,为开展早产儿生长监测和营养管理提供依据.方法 回顾性分析2013年1月-2017年12月在上海市儿童医院NICU住院、出院后在本院早产儿随访门诊接受系统管理的早产儿体格随访数据,了解不同性别、出生胎龄早产儿0～24月龄身长和体重增长情况.结果 共纳入早产儿1143例,构成以极早和早期早产儿占比最多,两者合计占36.8％,中期早产儿占29.6％,晚期早产儿占33.6％.早产儿平均出生胎龄(32.2±2.4)周,男、女童出生胎龄构成差异无统计学意义(x2=2.048,P=0.562).校正0月龄时,各组早产儿平均身高、体重超过足月儿;校正足月后整体追赶生长良好,但身高、体重始终低于足月儿均值;各组早产儿的追赶生长趋势,以早期早产男童组最不理想.结论 NICU出院早产儿可实现良好追赶生长,需重点关注早期早产男童;对早产儿开展出院后系统管理有助于适宜追赶.

Objective To investigate the diagnostic value of cerebrospinal fluid protein in the assess-ment of neurological outcome in preterm infants with sepsis. Methods A total of 80 preterm infants with sepsis were enrolled in the department of neonatology of Shanghai Children's Hospital from June 2014 to June 2016. The lumbar puncture was completed within 24 hours after diagnosis of sepsis,and the results of ce-rebrospinal fluid protein were obtained. The prognosis of neurological development was assessed according to Gesell Developmental Quotient ( DQ) at 6 months of adjusted gestational age. DQ> 85 was used as an indi-cator of good prognosis group. DQ≤85 was assigned to the poor prognosis group. The differences in protein content of cerebrospinal fluid between these two groups were retrospectively analyzed. The receiver operating characteristic ( ROC) curve was used to evaluate the diagnostic value of cerebrospinal fluid in evaluating the prognosis of preterm infants with sepsis. Results Cerebrospinal fluid protein content of poor prognosis group was higher than those in good prognosis group[(2005. 56 ± 582. 85)mg/L vs. (1367. 92 ± 362. 29)mg/L, t= -6. 019,P<0. 01]. The area under the ROC curve was 0. 819(95％CI 0. 711 -0. 927,P<0. 05). The optimal threshold of cerebrospinal fluid protein was 1560 mg/L with specificity of 75. 5％ and sensitivity of 81. 5％. Conclusion Cerebrospinal fluid protein content has certain diagnostic value on the assessment of sepsis premature neurological prognosis.

Background: Bronchopulmonary dysplasia (BPD) is a neonatal chronic lung disease characterized by impaired pulmonary alveolar development in preterm infants. Until now, little is known about the molecular and cellular basis of BPD. There is increasing evidence that lncRNAs regulate cell proliferation and apoptosis during lung organogenesis. The potential role of lncRNAs in the pathogenesis of BPD is unclear. This study aims to clarify the role of MALAT1 during the process of BPD in preterm infants and illustrate the protective effect of MALAT1 involved in preterm infants. Methods: We assessed the expression of MALAT1 in BPD mice lung tissues by reanalyzing dataset GSE25286 (Mouse GEO Genome 4302 Array) from gene expression database gene expression omnibus (GEO), and verified MALAT1 expression in BPD patients by realtime q-PCR. Then the role of MALAT1 in regulating cell biology was examined by profiling dataset GSE43830. The expression of CDC6, a known antiapoptopic gene was verified in BPD patients and the alveolar epithelial cell line A549 cells in which MALAT1 was knocked down. Cell apoptosis was determined by FACS using PI/Annexin-V staining. Results: The expression of MALAT1 was significantly evaluated in lung tissues of BPD mice at day 14 and day 29 compared to WT (P < 0.05). In consistent with mRNA array profiling analysis, MALAT1 expression level in blood samples from preterm infants with BPD was significantly increased. Bioinformative data analysis of MALAT1 knockdown in WI-38 cells showed various differentially expressed genes were found enriched in apoptosis related pathway. Downregulation of antiapoptopic gene, CDC6 expression was further verified by q-PCR result. PI/Annexin-V apoptisis assay results showed that MALAT1 knocked down in the alveolar epithelial cell line (A549) promotes cell apoptosis. Conclusions: In our study, we found that up-regulation of lncRNA MALAT1 could protect preterm infants with BPD by inhibiting cell apoptosis. These data provide novel insights into MALAT1 regulation which may be relevant to cell fate and shed light on BPD prevention and treatment.

Objective To explore the clinical features, diagnosis, and treatment of non-immunologic hydrops fetalis (NIHF). Methods The clinical data of 10 cases of NIHF in neonatal intensive case unit during January 2011 to December 2016 were analyzed retrospectively. The related literatures were reviewed. Results In 10 cases of NIHF (6 males and 4 females). the gestational age were 32-42 weeks, and the birth weight was 2.25-3.95 kg. Among them, there were 3 cases of infectious diseases (cytomegalovirus, Streptococcus agalactiae, and parvovirus infection, one case each), 2 cases of fetal cardiovascular abnormalities, 2 cases of chromosomal abnormalities, 1 case of abnormal thoracic structures, 1 case of twin transfusion syndrome, and 1 case of etiology unknown of fetal hydrops. The clinical manifestations showed that there were 8 cases with 2 or more areas of edema (or hydrops), and only 2 cases with skin edema. Finally, 6 cases were cured and discharged, 2 cases were discharged by themself, and 2 cases died. Conclusions Prenatal ultrasound is a reliable method for the diagnosis of NIHF. Fetal edema in early pregnancy, especially with congenital malformations, is recommended for termination of pregnancy. After birth, NIHF should be diagnosed promptly so as to avoid or reduce severe complications.

目的:调查婴幼儿流行性感冒口服药的剂型和剂量在上海市儿童医院儿科门诊治疗中的使用情况,阐明开发儿科用药专用剂型以及开展儿科剂型临床研究的必要性.方法:通过调查上海市儿童医院儿科门诊2014年10月至12月婴幼儿流行性感冒0～3岁儿童处方情况,分析相关药物剂型与剂量存在的问题.结果:用于儿科门诊婴幼儿流行性感冒的专用口服药剂型少,儿科口服药在使用剂型和剂量上存在缺陷,家长给孩子调配药品困难,儿童服用口服药物的依从性差.结论:政府和医药企业应加强开展儿科用药剂型的研究,在合适条件下改变药物的规格和用药剂型剂量,解决家长配药困难和儿童用药依从性差等问题.

目的 探讨振幅整合脑电图(amplitude integrated eleetreencephlogram,aEEG)在足月新生儿缺氧缺血性脑病(hypoxie-ischemic encephalopathy,HIE)诊治中的临床应用价值.方法 采取回顾性对照分析方法,分析2011年6月-2014年6月在上海市儿童医院新生儿重症监护病房(intensive care unit,NICU)住院治疗的78例足月新生儿HIE患儿临床资料,根据临床分度、头颅CT分度及按aEEG分类标准,观察并比较三组患儿的振幅整合脑电图监测结果及临床确诊情况.结果 通过对HIE新生儿进行脑电图诊断分析,HIE临床分级越高,脑电图的异常率、异常程度就越大,对三组患儿的临床诊断进行分析结果显示,差异有统计学意义(P＜0.05).结论 aEEG可有效地反映出HIE患儿大脑皮层的病变、脑功能状态及脑损伤程度等.aEEG异常程度与HIE临床分度、HIE头颅CT分度密切呈正相关,在早期诊断HIE、判断HIE病情程度及预测病情预后方面有很大的应用价值,在临床值得推广.

Objective To explore the effect of macrolide antibiotics(erythromycin) on tumor necrosis factor(TNF)-α and interleukin(IL)-8 in hyperoxia-induced lung tissue of premature newborn rats,and to study the intervention effect of erythromycin on hyperoxia-induced lung injury.Methods One-day old preterm Sprague Dawley rats were randomly divided into four groups by random number table method:air + sodium chloride group,air + erythromycin group,hyperoxia + sodium chloride group,hyperoxia + erythromycin group.Hyperoxia groups were continuously exposed to oxygen (oxygen ＞ 0.85) and air group in room air.After 1,7,14 days of exposure,the preterm rats of four groups were sacrificed,whole lung of these rats were isolated,the lung histological changes were observed by hematoxylin-eosin staining,TNF-α and IL-8 in pulmonary tissue homogenate were detected by ELISA.Results The results showed that:(1) Compared with air + sodium chloride group,TNF-α and IL-8 expression in hyperoxia + sodium chloride group were significantly increased(P ＜ 0.05) after 1,7 days of exposure [1 d:TNF-α:(16.163 ± 0.574) ng/ml vs.(21.923 ±2.066) ng/ml,IL-8:(18.214 ±3.649) ng/ml vs.(23.546 ± 5.240) ng/ml ;7 d:TNF-α:(15.940 ±0.821) ng/ml vs.(19.688 ±0.764) ng/ml,IL-8:(18.541 ± 4.114) ng/ml vs.(24.255 ±4.692) ng/ml],in particular,TNF-α expression appeared to increase earlier,their expression became significantly weak in 14 days (P ＜ 0.05).(2) Compared with hyperoxia + sodium chloride group,TNF-α and IL-8 expression in hyperoxia +erythromycin group became significantly weak after 1,7,14 days of exposure(P ＜0.05) after the intervention of erythromycin [1 d:TNF-α:(21.923 ± 2.066) ng/ml vs.(18.903 ± 1.851) ng/ml,7 d:IL-8:(24.255 ±4.692) ng/ml vs.(23.508 ±3.543) ng/ml,14 d:TNF-α:(16.443 ±5.466) ng/ml vs.(14.453 ±0.963)ng/ml],but their expression became weaker in 14 days than that in 1,7 days.Conclusion The release of inflammatory mediators TNF-α and IL-8 induced by oxidation outbreak participates in the development of hyperoxia induced lung injury,erythromycin may regulate immune function,inhibits the levels of oxidant-mediated TNF-α and IL-8 induced by oxidation outbreak,and alleviate hyperoxia lung injury in premature rats.

Objective To explore the efficacy and safety of bedside continuous blood purification (CBP) in the treatment of critically ill neonates.Methods Totally ten critically ill neonates were hospitalized in Department of Neonatal Intensive Care Unit (NICU) in Shanghai Children's Hospital from June 2011 to May 2015, and managed with CBP treatment.The indications of CBP therapy were multiple organ dysfunction syndrome (MODS) failed to conventional treatment or combined with acute renal failure (ARF).The model for CBP was continuous veno-venous hemofiltration dialysis (CVVH).The clinical outcomes included blood electrolytes, serum bio markers, urine output, hemodynamic indicators, dose of intravenous epinephrine before treatment, 6, 12, 24, 48 h after treatment and at the end of CBP.Complications of CBP were also observed.Statistical analysis was performed with ANOVA and Dunnett-t test.Results The underlying problems of the ten newborns were septicemia (n=5), severe neonatal asphyxia (n=2), congenital hereditary metabolic disease (n=2) and traumatic asphyxia (n=l).The venous catheter was successfully inserted for all babies and CBP treatment continued for (86.7 ± 25.9) h averagely with obvious effect.Four of the ten cases were cured and discharged, and the rest six refused to treatment and died after due to irreversible injury of the nervous system although they had survived from the oliguric stage of ARF.The complications of CBP included thrombocytopenia (n=3), catheter blockage (n=2), hypotension (n=l).No hypothermia, thrombosis, bleeding or infection occurred.The mean blood pressure and partial pressure of oxygen in arterial blood/fraction of inspiration oxygen (PaO2/ FiO2) of the ten cases 6 h after the beginning of treatment were higher than those before [(46.4 ± 7.5) vs (36.5 ±8.3) mmHg, 1 mmHg=0.133 kPa;(210.0±62.0) vs (93.0±43.0) mmHg;t=2.647 and 6.378, both P ＜ 0.05].At the 12th hour since treatment start, the blood pH value was 7.4 ± 0.2, which was higher than that before treatment (6.9 ± 0.2, t=2.731, P ＜ 0.05), and kept in normal range.At the 24th hour, the serum levels of potassium, urea nitrogen and creatinine dropped to normal range compared to those before treatment [(4.8±2.9) vs (9.6± 3.6) mmol/L;(7.2±2.3) vs (13.6±6.3) mmol/L;(51.0± 12.0) vs (172.0±23.0) μ mol/L;t=4.571, 5.427 and 21.672, all P ＜ 0.05].Urine output increased from zero before the treatment to (0.7±0.3) ml/(kg · h) after 24 h (t=3.284, P ＜ 0.05).The maintaining dose of intravenous epinephrine decreased since 12 h after the beginning of treatment and was ceased at the 48th hour.Conclusion CBP is an effective and feasible treatment for critically ill neonates.

Objective To investigate the effect of probiotics supplementation combined with warm saline enema on the improvement of feeding intolerance in premature infants.Methods One hundred and thirty-three pre-mature infants,admitted from the January,2014 to December,2014,were randomly divided into four groups:group A (the control group,without intervention,33 cases),group B (warm saline enema,34 cases),group C (probiotics supple-mentation,35 cases),and group D (warm saline enema combined with probiotics supplementation,31 cases).The times for meconium emptying,jaundice disappearance,regaining birth weight,and reaching 100 kcal/kg daily through enteral feeding were recorded in the four groups to evaluate the improvement in feeding tolerance.The complications in every group were calculated.Results The times for meconium emptying,jaundice disappearance,regaining birth weight,and reaching 100 kcal/kg daily through enteral feeding in group D were shorter than those in the other 3 groups,with statistically significant differences (P<0.05).Conclusion Intervention by probiotics supplementation combined with saline enema can reduce significantly the incidence of feeding intolerance in premature infants,which is safe and effective.

目的 探讨一氧化氮吸入(iNO)联合高频振荡通气(HFOV)治疗新生儿持续肺动脉高压(PPHN)的临床疗效.方法 回顾性分析2010年1月至2013年12月本院新生儿重症监护病房收治的PPHN患儿临床资料,根据不同时间段治疗措施不同分为HFOV组、常频机械通气(CMV)+iNO组、HFOV+iNO组.记录并比较各组患儿治疗前、治疗2、12、24 h的吸入氧浓度(FiO2)、氧合指数(OI)、肺动脉压力,以及呼吸机使用情况、住院时间、症状变化及转归.结果 治疗2、12、24 h,HFOV+ iNO组FiO2、OI、肺动脉压力均低于CMV+ iNO组和HFOV组,CMV+ iNO组低于HFOV组[2 h FiO2:(0.43±0.15)比(0.58 ±0.11)、(0.71 ±0.13),OI:(17.1 ±5.6)mmHg比(20.3±6.2) mmHg、(22.6±6.4) mmHg,肺动脉压力:(46.2±4.6)mmHg比(51.3±4.4)mmHg、(58.3±3.7) mmHg; 24h FiO2:(0.26±0.14)比(0.32±0.16)、(0.42 ±0.13),OI:(8.4±4.2)mmHg比(11.6±4.6) mmHg、(13.8±3.8) mmHg,肺动脉压力:(15.3 ±4.4)mmHg比(24.5±4.5)mmHg、(35.6±3.6) mmHg,P＜0.05].HFOV+iNO组机械通气时间、氧疗时间及住院时间均短于CMV+ iNO组和HFOV组,CMV+ iNO组短于HFOV组,差异有统计学意义(P＜0.05);各组患儿病死率及Ⅲ度以上颅内出血发生率差异无统计学意义(P＞0.05).结论 早期iNO联合HFOV治疗PPHN疗效显著,能迅速改善肺动脉高压患儿的氧合情况,显著缩短患儿的上机时间、氧暴露时间及住院时间,但对患儿病死率及Ⅲ度以上颅内出血发生率没有影响.

Objective: To explore the effect of erythromycin on hyperoxia-induced lung injury.Methods: One-day-old preterm offspring Sprague-Dawley (SD) rats were randomly divided into four groups: group 1, air + sodium chloride; group 2, air + erythromycin;group 3, hyperoxia + sodium chloride; and group 4, hyperoxia + erythromycin. At one, seven, and 14 days of exposure, glutathione (GSH) and interleukin-1 beta (IL-1 beta) were detected by double-antibody sandwich enzyme-linked immunosorbent assay (ELISA), and bicinchoninic acid (BCA) was used to detect GSH protein. gamma-glutamine-cysteine synthetase (gamma-GCS) mRNA was detected by reverse transcription-polymerase chain reaction (RT-PCR).Results: Compared with group 1, expressions of GSH and gamma-GCS mRNA in group 3 were significantly increased at one and seven days of exposure (p < 0.05), but expression of gamma-GCS mRNA was significantly reduced at 14 days; expression of IL-1 beta in group 3 was significantly increased at seven days of exposure (p < 0.05), and was significantly reduced at 14 days. Compared with group 3, expressions of GSH and gamma-GCS mRNA in group 4 were significantly increased at one, seven, and 14 days of exposure (p < 0.05), but expressions of GSH showed a downward trend at 14 days; expression of IL-1 beta in group 4 was significantly reduced at one and seven days of exposure (p < 0.05).Conclusions: Changes in oxidant-mediated IL-1 beta and GSH are involved in the development of hyperoxia-induced lung injury. Erythromycin may up-regulate the activity of gamma-GCS, increasing the expression of GSH, inhibiting the levels of oxidant-mediated IL-1 beta and alleviating hyperoxia-induced lung injury via an antioxidant effect. (C) 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

OBJECTIVE:To establish a rapid method for detecting MTHFR gene 677C>T polymorphisms with high-resolution melting curve method (HRM) and pyrosequencing.METHODS:Peripheral blood samples were collected from 155 Down syndrome patients and 182 normal controls from Children's Hospital of Shanghai. The accuracy of three methods including regular HRM, internal control HRM and artificial heterozygosity HRM was compared. Meanwhile, allele frequencies in 10, 30 and 50 mixed samples were measured with pyrosequencing, and the results were compared with that of HRM.RESULTS:Heterozygosity of 677C>T polymorphism could be distinguished by various HRM methods. However, homozygotes CC and TT were only identifiable by internal control HRM and artificial heterozygosity HRM. The accuracy of pyrosequencing for allele frequency has improved with increased sample number. When the number of mixed samples has exceeded 30, the difference between pyrosequencing results and actual values became less than 4%. TT genotype was more frequent in Down syndrome patients than controls (25.2% vs. 14.3%). No significant difference was found in T allele frequency between the two groups (44.9% vs. 40.1%).CONCLUSION:Respectively, internal control HRM and pyrosequencing may be ideal methods for determination of genotypic and allelic frequencies.