早期或晚期抢救性给予肺表面活性物质对呼吸窘迫综合征早产儿的影响

目的 观察早期或晚期抢救性给予肺表面活性物质(PS)对呼吸窘迫综合征(RDS)早产儿的影响.方法 回顾性分析99例需要机械通气的RDS患儿的临床资料.按照PS的给予时间分为早期组(出生2 h内)48例和晚期组(出生2～12 h)51例,观察2组在机械通气时间、氧疗时间、病死率以及并发症:气漏(肺间质气肿、气胸)、肺出血、支气管肺发育不良(BPD)、坏死性小肠结肠炎(NEC)、PDA、严重脑室内出血(IVH)的发生率方面的变化.结果 早期组和晚期组机械通气时间[(4.14±1.88) d vs (5.84±3.36) d]比较有统计学差异(P＜0.05).2组氧疗时间[(5.84±3.36) d vs (8.05±5.48) d]比较差异有统计学意义(P＜0.05).28 d内早产儿的病死率:早期组为6.25%、晚期组为5.88%,出生12 h内不同时间给予PS对病死率无影响(OR=1.07,95% CI 0.21～5.56,P=1.00).早期组BPD的发生率8.7%,低于晚期组16.0%,但无统计学差异(OR=0.49,95%CI 0.13～1.74,P=0.36).其他并发症如气漏、肺出血、PDA、NEC、严重IVH发生率,2组患儿之间均无明显差异(Pa＞0.05).结论 早期抢救性给予PS能显著减少RDS早产儿的机械通气时间和氧疗时间,降低BPD的发生率.     

Severe Neonatal Respiratory Distress Syndrome Treated with the Isolated Phospholipid Fraction of Natural Surfactant

Ten newborn infants (795–1680 g) with severe respiratory distress syndrome (RDS) were treated with the isolated phospholipid fraction of bovine or porcine surfactant, which was administered via the airways (dose 200 mg/kg), at a median age of 10.5 h. Before receiving surfactant, all the infants were on artificial ventilation (FiO₂ 0.6–1.0). Within 2 h after surfactant replacement, the arterial-to-alveolar P_O2 ratio increased from 0.1 to 0.35. There was a concomitant improvement in lung aeration on the chest roentgenograms and a significant reduction in the right-to-left shunt. Four patients died of cerebral hemorrhage; two of them also had a patent ductus arteriosus. One surviving infant developed bronchopulmonary dysplasia, and another succumbed 8 months later to the sudden infant death syndrome. No antibodies against surfactant were detected in the sera of the survivors. Since our results show a significant improvement in lung function after replacement therapy, the efficacy of this new surfactant preparation should be further tested in randomized clinical trials.     

Congenital Mumps Pneumonia: a Rare Cause of Neonatal Respiratory Distress

ABSTRACT. A case of a full term infant with severe neonatal respiratory distress due to mumps infection is reported. Pregnancy was complicated by a self-limited febrile illness of the mother about two weeks before birth. Foetal heart rate patterns and delivery were normal. Immediately after birth the infant needed mechanical ventilation. Bacterial infections, as well as congenital cardiac or pulmonary malformations were excluded. The infant showed serologic evidence of mumps infection: IgM antibodies to mumps virus were highly positive. He expired on the 9th day of life due to bilateral pneumothoraces and pneumopericardium. Post-mortem examination showed interstitial pneumonia with intra-alveolar multinucleated giant cells, suggesting viral disease. This case demonstrates, that mumps pneumonia should be included in the differential diagnosis of severe neonatal respiratory distress in fullterm neonates.     

肺表面活性物质对不同胎龄呼吸窘迫综合征新生儿的疗效

目的 探讨肺表面活性物质(PS)对不同胎龄儿呼吸窘迫综合征(RDS)的疗效差异.方法 选择胎龄28～39周,出生体质量760～3 240 g,经PS治疗的RDS患儿67例.早期组:胎龄28～30周的早期早产儿18例;中期组:胎龄31～33周的中期早产儿28例;晚期组:胎龄34周以上的晚期早产儿和足月儿21例.比较3组PS治疗时RDS的重症程度、PS开始使用时间、第1次使用剂量、总剂量、重复使用例数、氧疗时间、最高吸氧体积分数(FiO2)、机械通气时间等指标.结果 PS治疗时早期组和中期组轻度RDS例数明显多于晚期组(Pa＜0.05).中期组和晚期组重度RDS例数明显多于早期组(Pa＜0.05),PS开始使用时间晚期组明显晚于早、中期组(Pa＜0.05).第1次使用剂量早期组明显多于中、晚期组(Pa＜0.05).使用总剂量和重复使用例数各组间均无统计学差异(Pa＞0.05).机械通气时间早、晚期组明显多于中期组(P=0.040);最高FiO2以晚期组最高(P=0.006).结论 早期早产儿RDS病情轻、开始PS治疗时间早、剂量足,但需氧疗和机械通气时间长;晚期早产儿和足月儿RDS病情危重、开始PS治疗时间晚、剂量不足、需氧疗和机械通气时间长.对晚期早产儿和足月儿RDS治疗应尽早、足量使用PS.     

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目的归纳新生儿呼吸窘迫综合征(RDS)的临床特点,观察肺表面活性物质(PS)在机械通气治疗新生儿RDS中的作用。方法收集2006年9月至2008年2月在河北省儿童医院新生儿科住院治疗的168例RDS患儿临床资料,平均胎龄为(32.3±3.7)周,平均体重为(1.73±0.75)g。观察比较国产PS(珂立苏,calsurf)应用前后的主要血气指标、呼吸机参数、机械通气模式以及并发症、转归等。结果应用PS在0、1、12和72h不同时点的比较显示:吸氧浓度(FiO2)分别为0.51±0.11、0.32±0.1、0.28±0.08和0.26±0.09。应用PS1h时,RDS患儿所需FiO2明显下降,此后下降幅度逐渐减小(P<0.05)。动脉血氧分压PaO2/吸入氧浓度FiO(2P/F)和动脉血氧分压/肺泡氧分压a/APO2比值则随时间变化呈逐渐增高趋势,但差异无统计学意义(P>0.05)。结论PS能较快地改善新生儿RDS氧合状况;肺保护性通气策略正在为越来越多的临床医生接受。     

Isolated Congenital Absence of a Single Pulmonary Valve Cusp

Isolated absence of a single pulmonary valve is extremely unusual. We present a 16-year-old male with the absence of one cusp resulting in significant pulmonary regurgitation, right ventricular enlargement, and dilatation of the main pulmonary artery and its branches. Surgery consisted of creating a valve cusp from the posterior wall of the pulmonary artery at the base of the pulmonary trunk. Follow-up at 3.5 years revealed good results with only mild pulmonary stenosis and regurgitation.     

Immediate Effects on Lung Function of Instilled Human Surfactant in Mechanically Ventilated Newborn Infants with IRDS

ABSTRACT. We have studied the effects on lung volume, respiratory mechanics and ventilation during the first hours after instillation of 60 mg/kg of human surfactant into the trachea of 4 very preterm, newborn infants with severe IRDS under mechanical ventilation. Measurements were made with a "face-out" body plethysmograph and a modified nitrogen wash-out method. In addition to a transient decrease in total and alveolar ventilation immediately after the instillation we found an immediate rise in lung volume, but respiratory compliance decreased. These changes lasted less than two hours. Oxygen requirements fell in 3 out of 4 infants. The changes in lung volume and compliance are explained in terms of changes in the shape of the static recoil pressure characteristics of the diseased lungs after treatment. Mechanisms behind the short duration are sought in mode of instillation, dosage, age at treatment, and severity of disease.     

Distinguishing Cardiac Features of a Novel Form of Congenital Muscular Dystrophy (Salih CMD)

The cardiac features of a novel form of congenital muscular dystrophy (Salih CMD) are described in two adolescent siblings. The patients presented with severe hypotonia at birth, associated with delayed development. They could walk independently and managed to maintain walking after 13 years of age. Their muscle immunohistochemistry differed from that seen in Duchenne and Becher muscular dystrophy (DMD and BMD), severe childhood autosomal recessive muscular dystrophy (SCARMD) due to sarcoglycan deficiency (sarcoglycanopathies), and lamininα2 (merosin)-deficient CMD. However, both patients had associated cardiomyopathy. Electrocardiography (ECG) in Salih CMD was characterized by delayed atrioventricular (AV) conduction, left anterior fascicular block (left axis deviation), and left atrial enlargement without evidence of atrial dysarrhythmia. Echocardiography showed features of severe left ventricular dysfunction with estimated left ventricle ejection fraction (LVEF) of 25% at 16 years-of-age in the older patient. A year later, multigated aquisition MUGA scan showed LVEF of 21% and dilatation of the right ventricle. Echocardiography and MUGA scan were normal in the younger patient at 15 years-of-age. ECG, echocardiography, and MUGA scan are effective techniques for diagnosing and monitoring the cardiomyopathy in Salih CMD. They can also distinguish it from features seen in the other common forms of MD, including DMD, BMD, and sarcoglycanopathies.     

肺表面活性物质联合布地奈德干预治疗对伴呼吸窘迫综合征的低出生体质量儿心功能的保护作用

目的探讨肺表面活性物质(PS)联合布地奈德对伴呼吸窘迫综合征(RDS)的极低出生体质量儿(VLBWI)心功能的保护作用,并评估联合用药的效果。方法选取2010年8月-2011年3月南京市妇幼保健院收治的胎龄<34周、出生体质量<1 500 g、出生4 h内发生RDS的早产儿30例,将其随机分为PS+布地奈德组和PS组。PS+布地奈德组使用PS和布地奈德混合剂(每70 mg PS中加入0.25 mg布地奈德),PS剂量70 mg.kg-1,布地奈德0.25 mg.kg-1。PS组单使用PS,剂量70 mg.kg-1。在出生30～60 min由气管内滴入。于1、7、14 d进行血清CK-MB和肌钙蛋白测定,同时进行超声心动图检查,对左心室射血分数(LVEF)、右心室射血分数(RVEF)、二尖瓣舒张早期和舒张晚期血流峰比值(MVE/A)、三尖瓣舒张早期和舒张晚期血流峰比值(TVE/A)、左心室(LV)-Tei指数进行测定。结果 PS+布地奈德组血清CK-MB和肌钙蛋白14 d低于PS组(Pa<0.05);与PS组比较,PS+布地奈德组心脏收缩功能LVEF 14 d明显增加(P<0.05),RVEF 7、14 d均明显增加(Pa<0.05)。2组MVE/A和TVE/A均逐渐增加,PS+布地奈德组增加明显,MVE/A 14 d,TVE/A 7、14 d与PS组比较差异有统计学意义(Pa<0.05)。PS+布地奈德组LV-Tei指数14 d低于PS组(P<0.05)。结论使用PS联合布地奈德对伴RDS的VLBWI进行干预对其心脏具有保护作用,可促进心脏功能恢复。     

肺表面活性物质联合布地奈德对急性呼吸窘迫综合征极低出生体质量儿肺功能的影响

目的 探讨肺表面活性物质(PS)联合布地奈德对急性呼吸窘迫综合征(ARDS)极低出生体质量儿肺功能的影响,并评价联合用药的治疗效果.方法 2010年8月-2011年3月南京市妇幼保健院收治的胎龄<34周、出生体质量<1 500 g、出生4 h内发生ARDS的早产儿30例,随机分为PS组和PS+布地奈德组.PS+布地奈德组(男9例,女6例)使用PS和布地奈德混合剂(每70 mg PS中加入0.25 mg布地奈德),剂量:PS 70 mg·kg-1,布地奈德0.25 mg·kg-1.PS组(男8例,女7例)单使用PS,70 mg·kg-1,出生30～60 min内由气管内滴入.监测2组患儿血气及肺功能.结果 PS+布地奈德组患儿动脉血气pH值第2、5、6天明显高于PS组(Pa<0.05),二氧化碳分压[pa(CO2)]第3、4、6天明显降低(Pa<0.05),氧合指数(OI)第3、4、6天明显升高(Pa<0.05);肺功能监测2组胸肺总顺应性(Crs)升高、呼吸道阻力(Raw)下降、潮气量(TV)增加,第5、6天与PS组比较有显著差异(Pa<0.05).结论 使用PS联合布地奈德对ARDS极低出生体质量儿能较快改善肺功能,尽早撤离呼吸机,减少肺损伤,减少早产儿支气管肺发育不良的发生.     

Respiratory insufficiency as a cause of neonatal death (with aspects on the potential need for ECMO treatment)

In order to identify children with fatal outcome in a neonatal intensive care unit in which only outborns are admitted, a retrospective study over a 10-year period was undertaken. The study was limited to respiratory disorders. The aim of the study was to identify lethal risk factors and thereby the need for improving therapeutic tools. Diagnoses, perinatal history, ventilator settings, blood gases, medical treatment, X-ray findings, head ultrasounds, echocardiograms, laboratory tests, surgical procedures and autopsy findings were evaluated. Severe respiratory insufficiency requiring mechanical ventilation was found in 777 patients and of these babies, 207 (27%) died while still on the ventilator. Fifty-eight patients were excluded for various reasons and thus 149 patients were included in the study. It is concluded that the mortality rate from respiratory insufficiency in the material studied was consistently high over the 10-year period. New therapeutic modalities, one of which is ECMO, are offered nowadays in clinical practice and may improve mortality and morbidity rates.     

VLCAD deficiency in a patient who recovered from ventricular fibrillation,but died suddenly of a respiratory syncytial virus infection

VLCAD deficiency is an autosomal recessive disorder caused by a defect of fatty acid oxidation. The phenotype is classified into three clinical forms on the basis of the onset of symptoms: a severe form with neonatal onset; a milder form with childhood onset; and a late‐onset form. The neonatal form is the most common, and has a higher mortality rate than the others. We report the case of a newborn infant with VLCAD deficiency who developed ventricular fibrillation, which was successfully treated by intensive care, but who suddenly died after a respiratory syncytial virus infection. Early institution of i.v. glucose treatment and active immunization with vaccine, such as palivizumab (anti‐RSV mAb), may be important to reduce the frequency and severity of life‐threatening episodes.     

线粒体MT-TE基因突变致可逆性婴幼儿呼吸链缺乏症1例并文献复习

目的探讨线粒体MT-TE基因突变致可逆性婴幼儿呼吸链缺乏症的临床表现及基因突变特点。方法回顾分析1例确诊为可逆性婴幼儿呼吸链缺乏症患儿的临床资料,并复习相关文献。结果男性患儿,2个月23天,入院时消瘦,呼吸急促,双肺可闻及痰鸣音及喘鸣音;肌力IV级,肌张力减弱。有一胞姐生后不久因重症肺炎去世。入院时肌酸激酶同工酶123 U/L,肌酸激酶890 U/L;血乳酸8.9 mmol/L;病原学检查均为阴性。头颅MRI无异常。入院后患儿持续高乳酸血症、肌酶异常升高,伴呼吸困难,放弃治疗后死亡。基因检查示线粒体MT-TE基因存在14674TC突变,来源于母亲。国外文献报道线粒体MT-TE 14674TC突变患儿早期临床表现与进展型线粒体病类似,呼吸肌无力、喂养困难,运动发育里程碑延迟,肌酶及乳酸升高。予补充能量,维持内环境稳定等治疗,约1岁左右逐渐好转。结论线粒体MT-TE基因突变致可逆性婴幼儿呼吸链缺乏症早期表现与进展型线粒体病类似,积极治疗预后良好。早期进行基因检测可明确预后,增强治疗的信心。     

Hyperadeninuria in a Patient with Congenital Deficiency of Adenine Phosphoribosyltransferase

Abstract The authors have previously reported on the possibility of using the detection of crystalluria of 2, 8-dihydroxyadenine as a screening test for the early discovery of congenital adenine phosphoribosytransferase deficiency.
Since the amount of adenine in urine was determined by high performance liquid chromatography and hyperadeninuria in a girl patient with this disease was definitely recognized, it is concluded that the detection of crystalluria of 2,8-dihydroxyadenine as a primary screening test and the demonstration of hyperadeninuria as a secondary screening are helpful in an early detection of this disease.
The authors would like to propose this disease be designated a "Adenine-body Urine Disease," since adenine bodies such as adenine and 2,8-dihydroxyadenine are excreted into the urine in large volumes.     

Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation

Abstract:  Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six-month-old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency.     

Study on Cause of Death in Rat Neonates with Congenital Osteochondrodysplasia (ocd/ocd) I. Morphological Abnormalities in Lung and Respiratory Tract

Abstract The rat with congenital osteochondrodysplasia with systemic subcutaneous edema (ocd/ocd) dies shortly after parturition. The cause of death has not been fully understood in the similar lethal disorders in other species. The present study describes the morphological abnormalities in the respiratory tract in relation to the cause of death in ocd/ocd. Mid saggital section of the respiratory tract of the ocd/ocd neonate revealed that the air flow from nose to lung is disturbed by occlusion of the pharynx and larynx area with the cleft palate and relatively large tongue. Smaller thoracic volume was also noted in the ocd/ocd neonate. Of intra-thoracic organs, only the lung showed significantly smaller weight in the ocd/ocd neonate than that of phenotypically normal (+/quest;). Histology of the fetal and neonatal lung showed atelectasis and many small alveolar cavities with abundant lung surfactants in the ocd/ocd. Disarrangement of the cells composing the alveolar wall was also revealed in the ocd/ocd. Electron microscopy of the fetal lung demonstrates the lamella bodies in the alveolar cavities and the pneumocyte type II cells in both genotypes. Insufficiency of the surfactant was excluded for the cause of death in the ocd/ocd.     

Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent

We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. Several male patients with recessive X-linked ichthyosis have been reported to have testicular diseases, and it is suggested that this may be related to the absence of testicular steroid sulphatase activity.Abbreviations RXLI recessive X-linked ichthyosis - STS steroid sulphatase     

Reduced mortality in small premature infants treated at birth with a single dose of synthetic surfactant

A randomized controlled trial of Exosurf Neonatal, a synthetic exogenous surfactant, was performed. Exosurf was given to premature infants weighing 700-1350 g, by instillation down the endotracheal tube during mechanical ventilation, within 1 h of birth. Control infants were treated with air. Dose administration was performed in secrecy by clinicians who maintained the blind for 2 years. A total of 109 infants received air and 109 received Exosurf; 19 infants with congenital pneumonia or major malformations were excluded from the primary efficacy analysis. By the age of 28 days there were 14 deaths in the air group and 4 deaths in the Exosurf group, a 69% reduction with Exosurf (P = 0.020). Survival without bronchopulmonary dysplasia at the age of 28 days was significantly improved by 15% (P = 0.050). By the age of 1 year post-term there were 19 deaths in the air group and 10 deaths in the Exosurf group, a 42% reduction with Exosurf (P = 0.104). There were no significant changes in the incidence of bronchopulmonary dysplasia, pulmonary air leaks, intraventricular haemorrhage, patent ductus arteriosus, necrotizing enterocolitis or infection. The reduction in mortality indicates important results in high risk premature infants treated soon after birth with a single dose of Exosurf.