Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns

Primary ciliary dyskinesia (PCD) is a genetic disease that causes abnormalities in ciliary structure and/or function. Ciliated cells line the upper and lower respiratory tracts and the Eustachian tube. Impairment of mucus clearance at these sites leads to sinusitis, repeated pulmonary infections, bronchiectasis, and chronic otitis media. Situs inversus occurs randomly in approximately 50% of subjects with PCD. The triad of situs inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. PCD is usually an autosomal recessive disease, but occasional instances of X‐linked transmission have been reported. Specific diagnosis requires examination of ciliary function or structure on light and electron microscopy. Early diagnosis and respiratory management are important in order to prevent the development of bronchiectasis and deterioration in lung function. We report early diagnosis of PCD on nasal mucosal biopsy in two newborns who presented with prolonged respiratory distress and rhinorrhea.     

Clinical spectrum of primary ciliary dyskinesia in childhood

Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.     

Early diagnosis of primary ciliary dyskinesia in a newborn without situs inversus

Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth. CONCLUSIONS: Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress or atelectasis. Early institution of an adequate treatment programme and follow-up may reduce or prevent further complications of the disease.     

新生儿高促甲状腺激素血症临床转归分析

目的探讨新生儿高促甲状腺素血症(HT)的临床转归。方法定期随访高促甲状腺激素(TSH)血症患儿,评估其生长发育指标和甲状腺功能及治疗效果。结果新生儿筛查血清TSH 5.6~10 m U/L的191例患儿随访至24个月;182例血TSH逐渐恢复正常,5例血TSH逐渐升高10 m U/L,予以左甲状腺素钠治疗,4例随访2年后血TSH值仍波动在5.6~10 m U/L,继续随访中;血清TSH在10~20 m U/L的44例患儿,予以左甲状腺素钠治疗后38例血TSH值逐渐恢复正常;7例血TSH20 m U/L患儿需持续左甲状腺素钠治疗。242例HT新生儿中共有18例持续服用左甲状腺素钠替代治疗2年,继续随访。结论大多数新生儿HT随年龄增长逐渐恢复正常,有少部分患儿出现甲状腺功能异常,应积极随访。     

Primary ciliary dyskinesia: Evolution of pulmonary function

Pulmonary function tests were obtained in 11 patients with primary ciliary dyskinesia. Their mean age was 15 years (range 6–32). Their pulmonary function was obstructive, with a vital capacity (mean ± SD) of 75% ± 20% predicted, a forced expiratory volume in 1s (FEV₁) of 63% ± 20% predicted and a raised residual volume of 169% ± 50% predicted. After inhalation of 200 μg of salbutamol the mean change in FEV₁ was +13.2% ± 9.6% of the baseline value. In the 10 oldest patients, lung function had been measured at regular intervals during 3–20 years. Interestingly, during childhood and adolescence the evolution was not unfavourable: vital capacity increased by 8% ± 20% and FEV₁ remained stable (mean change 0.3% ± 12%). Only 2 patients had an unfavourable evolution. Conclusion At time of diagnosis, patients with primary ciliary dyskinesia have partially reversible obstructive airway disease. During regular follow up and therapy, there is no evidence of a further decline in lung function. Patients with associated immunodeficiency or important damage at the start of therapy may have a worse prognosis. Received: 24 March 1997 / Accepted in revised form: 21 November 1997     

Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted.Conclusion Despite its rarity, primany ciliary dyskinesia should be considered in unexplained cases of neonatal distress     

Echocardiographic evaluation of vagolytic effects of atropine sulfate during pediatric halothane anesthesia

The aims of this study were to define the antagonistic effects of atropine sulfate to halothane-induced cardiovascular depression in children, and to clarify whether or not a larger dose of atropine is more effective in attenuating the cardiovascular depression. Thirty-four children aged 1–12 years who had undergone minor surgery, free from cardiac or pulmonary disease, were assigned at random to two groups. M-mode echocardiographic evaluation of left ventricular function in each patient was performed at three points (before induction, point A; after induction, point B; and following administration of atropine, point C). Results were compared between points A and B, B and C and C and A, and between the two study groups with different doses of atropine (0.01 mg/kg vs 0.02 mg/kg). Heart rate (HR), mean blood pressure (MBP) and left ventricular shortening fraction (LVSF) decreased, and left ventricular end-diastolic dimension (LVEDD) were increased significantly by halothane induction. Although HR and MBP recovered following atropine, LVSF and LVEDD remained unchanged. There were no differences found between the values after vagolysis in both study groups, except for HR and mean velocity of circumferential fiber shortening (mVcf). Heart rate increased above that of pre-induction, even following the smaller dose of atropine. The myocardial depression cannot be necessarily attenuated by vagolysis regardless of the dosage of atropine. The smaller dose (i.e. 0.01 mg/kg) seems to be sufficient only to antagonize the bradycardia and hypotension during halothane anesthesia in children.     

美金胺对新生大鼠重复用药的毒理学实验研究

目的通过对新生大鼠进行美金胺的重复用药毒理学实验,从病理学角度探讨重复大剂量应用美金胺对新生大鼠各主要脏器可能造成的毒性影响。方法选用7日龄SD新生大鼠80只,随机分为高、中、低剂量组和对照组,连续14d分别经腹腔注射不同剂量美金胺或注射用水,每组2／3大鼠于停药后即予断头处死,余1／3大鼠于停药恢复1周后断头处死,分别对各主要脏器进行镜下病理检查。结果连续用药14d后,高、中剂量组大鼠的脑、肝组织见部分细胞变性,。肾组织有灶性钙化。低剂量组各脏器无明显病理改变。停药恢复7d后,可见肝脏有灶性坏死,。肾脏有灶性钙化,余脏器病变恢复正常。结论连续大剂量应用美金胺不会引起新生大鼠脑、肝、。肾的不可逆病理改变,美金胺对新生大鼠是安全的。     

High frequency oscillation and exogenous surfactant in the treatment of neonatal respiratory distress syndrome

Surfactant therapy has become widely used in neonates suffering from respiratory distress syndrome. High frequency oscillation has been shown to be efficient and safe in animal models, but somewhat less convincing in human neonates. An overview is given of the experimental and clinical data assessing the combination of these two techniques. Personal preliminary data are briefly presented.     

阿片κ受体在新生兔窒息中的作用

目的　探讨阿片κ受体在围生期缺氧导致新生兔窒息中的作用。方法　将 16只孕 30d母兔窒息后立即剖宫取出仔兔 ,随机分 3组 :新生兔窒息未治疗组 (窒息组 )、新生兔窒息中枢MR2 2 6 6治疗组 (MR1组 )及新生兔窒息外周MR2 2 6 6治疗组 (MR2组 ) ;MR1组及MR2组仔兔在分娩后 ,即刻分别从小脑延髓池及静脉注入阿片受体拮抗剂MR2 2 6 6。另取 4只无窒息母兔剖宫取出正常新生兔作为对照组。新生兔均于剖宫产后 5、10、15、30min进行呼吸、心跳、肤色、肌张力、反射评分。结果　MR1组及MR2组仔兔Apgar评分显著高于窒息组 (P<0 .0 5及P <0 .0 1) ,且MR2组评分明显高于MR1组 (P <0 .0 5 )。结论　阿片κ受体与围生期缺氧导致的新生兔窒息的发生发展密切相关     

含CpG基序的寡聚脱氧核糖核苷酸辅助乙肝疫苗对孕鼠和仔鼠的免疫效果

目的　观察不同剂量CpG 182 6联合乙肝疫苗注射孕鼠后 ,对孕鼠本身及其仔鼠的特异性免疫效果。方法　分别用不同剂量 (10、2 0、4 0 μg/只 )CpG 182 6作为乙肝疫苗佐剂辅助免疫孕鼠 ,ELISA方法检测孕鼠和仔鼠血清乙肝表面抗体 (HBsAb)水平 ,并观察仔鼠存活数量和生长发育指标 (体质量、身长、胎脑和胎仔体质量系数 )变化。结果　给孕鼠注射CpG 182 6 乙肝疫苗或单纯乙肝疫苗后 ,孕鼠血清HBsAb水平总是高于仔鼠水平 (P <0 .0 1) ,但孕鼠与仔鼠血清HBsAb水平间无相关性存在 (r =0 .379　P >0 .0 5 ) ;CpG 182 6 乙肝疫苗免疫孕鼠后 ,2 0 μg/只剂量组孕鼠和仔鼠血清HBsAb含量均高于 10、4 0 μg/只剂量组 ,单纯乙肝疫苗组及空白对照组 (P <0 .0 5 ) ,但仔鼠存活数量及体质量、身长、胎脑和胎仔体质量系数等生长发育指标间均无显著差异 (P均>0 .0 5 )。结论　CpG 182 6 (2 0 μg/只 )联合乙肝疫苗免疫孕鼠时 ,既能显著提高孕鼠及其仔鼠血清特异性免疫抗体水平 ,又不对仔鼠生长发育造成不良影响 ,是一种在妊娠期即可刺激免疫系统不成熟个体免疫活性的理想免疫佐剂。     

The usefulness of serial C-reactive protein measurement in managing neonatal infection

Recent advances in laboratory technology have enabled us to measure C-reactive protein with a higher sensitivity in a short period using a minimal amount of blood. Thus C-reactive protein can be measured easily several times a day. In this study, serial changes in C-reactive protein values were evaluated in 108 term and 240 preterm newborn infants with suspicion of infection, and the changing patterns of C-reactive protein values were compared with clinical outcome. For a diagnosis of infection, the negative predictive values in term and preterm infants were 99.0% and 97.8%, respectively, although the sensitivities were 61.5% and 75.0%, respectively. Antibiotic therapy was started at birth and discontinued when the changing pattern of C-reactive protein and clinical findings did not suggest infection. As a result, mean durations of administration of antibiotics in the term and preterm infants were 3 and 4 days, respectively. Recognition of the changing pattern of C-reactive protein was very useful in excluding infection and minimizing unnecessary antibiotic therapy in managing neonatal infection.     

Cognitive function at 10 years of age in children who have required neonatal intensive care

AIM: To study cognitive function at 10y of age in a cohort of children who required neonatal intensive care within the Uppsala Neonatal Follow-up Study. METHODS: 226 children, who were born in 1986-1989 and had required neonatal intensive care (NIC) and 72 full-term, healthy control children were enrolled in the study. NIC children were grouped according to gestational age (group I, 23-31 wk; subgroup IA, 23-27 wk; IB 28-31 wk; group II, 32-36 wk; group III, > 36 wk), with infants with congenital malformation (IWCM) included and excluded from the main groups. The Kaufman Assessment Battery for Children (K-ABC) was administered and results were analysed in relation to the K-ABC global scales: sequential, simultaneous, mental processing composite and achievement. RESULTS: The great majority of children had well-developed cognitive function, reaching scores at an average level or above. When groups were compared, full-term children that required NIC (group III) showed lower scores than controls on all scales measured by the K-ABC. Preterm children from all the studied groups (groups IA, IB, II) showed poorer performance than controls in the simultaneous processing scale, and group IA scored lower than controls in the achievement scale. The incidence of major cognitive impairment (IQ < 70) was low in NIC children (< 5%), but children from group IA showed significant higher frequency of impairment in the simultaneous, mental processing composite and achievement scales. Children from group IA presented a high frequency of discrepancy between the K-ABC scales, with lower simultaneous and higher sequential scores. Analysis with IWCM excluded from the main groups revealed identical results. CONCLUSION: Most children who needed neonatal intensive care had developed well their cognitive function at 10 y of age. The long-term effect of neonatal intensive care on cognitive function was more evident in extremely preterm infants (group IA), especially in tasks involving simultaneous ways of processing information.     

Impact of service changes on neonatal transfer patterns over 10 years

INTRODUCTION: Many changes have been made to the staffing and organisation of neonatal care in the UK in the past 10 years. This study assessed the extent to which these changes had affected the transfer of babies between different parts of the service. METHODS: Data from the Trent Neonatal Survey, an ongoing study of neonatal intensive care activity in the former Trent Health Region of the UK, were used to evaluate neonatal inter-hospital transfers over a 10-year period, from 1 January 1995 to 31 December 2004. The number of transfers and the types of transfer were analysed and trends in gestation and disease severity over the study period were assessed. Rates of "inappropriate transfer" were also identified. RESULTS: 8105 babies were transferred over the period; 2294 babies underwent urgent postnatal transfer and this equates to approximately two such transfers every three days. The maximum number of journeys by any one baby was eight. Intensive care activity rose during the 10 years but the number of inappropriate transfers remained persistently high. CONCLUSIONS: Organisational changes in neonatal care during the 10-year period have been insufficient to deal with the rising demand, as reflected by the persistently high rate of inappropriate transfers.