Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately I in 3,000 to I in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty-nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17-year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurse's records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their Multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 clays. We found a longer survival with female patients than with male Patients (P < 0.05). Implementation of NI-II program in the more recent decade of this study period was associated with longer suvival of trisomy 18 (P < 0.05). The three most common Structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed cars (90%). Low birth weight was present in 90%. By Cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, tell cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long-term survival should be included in an discussion to enable families to make the most appropriate decision. (c) 2006 Wiley-Liss, Inc.

The aims of this study were to assess the hemodynamics of the cerebral arteries and intraventricular hemorrhage in very-low-birthweight (VLBW) infants with and without patent ductus arteriosus (PDA) by cranial Doppler sonography. VLBW infants with significant PDA were recruited into the study (sPDA) group. Arterial blood gas analysis and complete blood counts were done near the time of the cranial sonography examination. Mechanical ventilator settings and daily fluid intake were recorded. The cranial Doppler sonographic examinations were repeated after PDA closure by indomethacin therapy and/or surgical ligation. A total of 40 preterm infants fulfilled the criteria of the study group. Another 37 preterm infants were recruited into a control group. Mean birth weight and gestational age did not differ significantly between the two groups. Differences in heart rate, blood pH, pCO2, pO2, use of surfactant therapy, mean airway pressure, ventilation index and FiO2 were statistically significant. In the sPDA group before closure of the PDA, the left atrial diameter/aorta diameter ratio demonstrated a positive relationship with resistance index (RI) and an inverse relationship with end diastolic velocities (Vd). After closure of the PDA, these changes neared those of the control group. The overall incidence of intraventricular hemorrhage (IVH) was higher in the sPDA than in the control group. There was no statistical difference in the grading and severity of IVH between the two groups. However, all preterm infants with severe IVH were found in the sPDA group, and their RIs were all higher than 0.80. Cranial Doppler sonography can be a useful tool to evaluate cerebral hemodynamic changes in VLBW infants with sPDA. Increased RI and decreased Vd of the cerebral artery may indicate a probable sPDA, and normalization of the RI and Vd may suggest closure of the sPDA.

Perinatal tuberculosis is a rare disease with a high mortality rate and is difficult to diagnose. We report a case of perinatal tuberculosis diagnosed by postmortem study at the age of 3 months. An 83-day-old male infant presented with cough for 3 weeks and intermittent fever for 1 week. A focal tonic convulsion occurred on the day of admission. Physical examination revealed failure to thrive, tachypnea, and marked hepatosplenomegaly. Chest roentgenogram showed bilateral nodular alveolar-interstitial infiltrates. Abdominal computed tomography showed multiple nodules in the liver and spleen as well as lymphadenopathy in the hepatic portal hilum. Antituberculous therapies were prescribed on the second hospital day. The patient died from respiratory failure on the sixth hospital day. Mycobacterium tuberculosis was cultured from gastric aspirates and cerebrospinal fluid 4 weeks after inoculation. Postmortem examination revealed disseminated necrotizing granulomas in several organs and tissues, including the porta hepatis lymph nodes, a primary hepatic complex. M. tuberculosis infection was diagnosed in his mother based on positive findings of Mautoux test and chest roentgenogram. This case illustrates that tuberculosis, though rare, still should be considered in poor-weight-gain neonates with cough, fever, and/or hepatosplenomegaly. Careful maternal and other family contact history is essential to establishing the diagnosis.

BACKGROUND AND PURPOSE:Despite the development of new adjuvant therapies, meconium aspiration syndrome (MAS) remains a serious respiratory disorder in neonates. Surfactant inactivation by meconium can be overcome by use of exogenous surfactant. This study sought to assess the efficacy and safety of dilute surfactant lavage at 2 different concentrations to treat severe MAS.METHODS:We retrospectively reviewed the charts of all term infants with a diagnosis of MAS who had an oxygenation index (OI) > 20 during a 2-year period. Tracheobronchial lavage was performed with a dilute surfactant suspension (5 mg/mL or 10 mg/mL) to reach a total dose of 60 to 70 mg/kg of phospholipid, administered in aliquots of 2 mL.RESULTS:The records of 22 patients were reviewed, of whom 12 had undergone lavage. These patients were subdivided into low-concentration (surfactant concentration, 5 mg/mL; n = 6) and high-concentration (surfactant concentration, 10 mg/mL; n = 6) subgroups. There were no significant differences in demographic characteristics between these 2 subgroups. The lavaged infants had a significantly higher arterial partial pressure of oxygen (PaO(2)) 24 hours after lavage than the infants without lavage (178.3 mm Hg vs 80.6 mm Hg, p < 0.05). The incidence of pneumothorax (1/12 vs 7/10, p < 0.05) and requirement for inhaled nitric oxide (5/12 vs 9/10, p < 0.05) were significantly lower in the lavaged group. All infants tolerated the procedure well except for 2 with transient complications. There were no significant differences in duration of lavage, response and complications between subgroups lavaged at low and high surfactant concentration.CONCLUSIONS:Early lavage with dilute surfactant solution at a phospholipid concentration of either 5 mg/mL or 10 mg/mL is effective for the treatment of severe MAS. Further large-scale, prospective, randomized, controlled trials are necessary to establish the optimal dose, concentration, surfactant product, and instillation method of this treatment before it can be recommended for routine use.

We report on a 1‐month‐old boy who presented with a “horseshoe” lung, complete “O” rings of the trachea, and an unusual course of the left pulmonary artery mimicking a left pulmonary artery sling. Computed tomography, cardiac catheterization, and bronchoscopy were performed to confirm the rare coexistence of these anomalies. To our knowledge, such a combination of anomalies has not been reported in the English‐language literature. Pediatr Pulmonol. 2002; 34:402–404. © 2002 Wiley‐Liss, Inc.

OBJECTIVE The CTLA4 (cytotoxic T lymphocyte associated antigen-4) gene encodes the T cell receptor involved in the control of T cell proliferation and mediates T cell apoptosis. Thus it is a strong candidate gene for T cell-mediated autoimmune disease. There is polymorphism at position 49 in exon 1 of the CTLA4 gene, providing a A-G exchange. This polymorphism is reportedly associated with type 1 diabetes in Caucasians but not in a small data set of Chinese. We wished to test this polymorphism in a larger and more homogeneous data set of Chinese children with type 1 diabetes and normal adult controls.DESIGN A population-based case-control study of a CTLA4 gene 49 A-G polymorphism was performed to look for an association with type 1 diabetes in Chinese children.PATIENTS We analysed this polymorphism in 253 unrelated children (128 boys) with type 1 diabetes (age at diagnosis 7.1 +/- 3.7 years) and 91 randomly selected normal adults. All individuals were Han Chinese.RESULTS The genotype and gene frequencies of children with type 1 diabetes differed significantly from those of adult controls (P = 0.0091 and P = 0.0051, respectively). Genotype CTLA4 49 G/G and G allele conferred a risk of type 1 diabetes (RR = 2.13, 95% CI = 1.31-3.46, P = 0.0022; RR = 1.68, 95% CI = 1.17-2.43, P = 0.0051, respectively).CONCLUSIONS This study demonstrates that CTLA4 49 A-G polymorphism is associated with type 1 diabetes in Han Chinese children. The CTLA4 49 G allele confers an increased risk of type 1 diabetes.

Atrial flutter is a rare arrhythmia in the neonate and early infancy. We retrospectively reviewed the clinical presentations, treatment and outcome of seven patients who presented clinically with atrial flutter. The age of onset ranged from 1 day to 3 months. Atrial flutter was diagnosed in the first 3 days of life in 4. Three cases presented as atrial flutter with 2:1 atrioventricular conduction and the remaining 4 with variable AV block. Heart failure was present in 3 patients and 6 patients showed normal intracardiac structure on echocardiography.Electrical cardioversion was attempted as the first treatment in 4 cases, followed by digoxin in three of the four. Digoxin was given as an initial therapy in 2 patients. One patient recovered spontaneously without treatment. In the 6 patients who received therapy, 5 converted to normal sinus rhythm within 2 days. The remaining patient had ventricular ectopic beats for about 4 months. Only 2 cases were maintained on oral digoxin for at least 4 months after discharge. No patient had a recurrence of atrial flutter during the follow-up period which ranged from 6 months to 7 years.We conclude that there is a good long-term prognosis for atrial flutter in the neonate. Digoxin and DC cardioversion may be effective as initial therapy. Long-term digoxin prophylaxis after conversion to sinus rhythm may be not necessary.

Ethnic comparisons are extremely important and useful for studying the HLA component involved in insulin-dependent diabetes mellitus (IDDM) predisposition. To date there have been only a few reports on the association of HLA loci and IDDM in Chinese. We report here a study on DQA1*Arg52, DQB1*nonAsp57, and DRB1*04 in IDDM children and control adults among Han Chinese living in Taiwan. One hundred and fourteen unrelated children (62 boys) with IDDM were studied. Their ages at diagnosis were between 0.3 and 15.0 years (6.8 ± 3.6 years). The control population consisted of 120 randomly selected normal adults. DQA1*Arg52(+/+), DQB1*nonAsp57(+/+), and DRB1*04(+/–) were associated with IDDM (RR = 11.50, 2.21, and 2.82; p = 1.11 × 10–15, 2.84 × 10–3, and 1.98 × 10–4, respectively). DQA1*Arg52, DQB1*nonAsp57, and DRB1*04 conferred risks for IDDM (RR = 12.79, 7.11, and 2.83; pc = 8.22 × 10–4, 5.35 × 10–3, and 5.68 × 10–4, respectively). Combinations of DQA1*Arg52 and DRB1*04 conferred the highest risk for IDDM (RR = 19.64, pc = 5.4 × 10–5). DQA1*Arg52 was associated with IDDM in subjects with DQB1*nonAsp57+ (RR = 14.87, pc = 2.41 × 10–4) and DQB1*nonAsp57 was also associated with IDDM in subjects with DQA1*Arg52+ (RR = 8.41, pc = 1.54 × 10–3), suggesting that DQA1*Arg52 and DQB1*nonAsp57 are interacting. This study demonstrates that DQA1*Arg52, DQB1*nonAsp57, and DRB1*04 confer susceptibility for IDDM to Chinese children. A combination of DQA1*Arg52 and DRB1*04 confers the highest risk and it is suggested that a susceptibility gene might be situated between DQA1*Arg52 and DRB1*04 or both are synergistic. There is an interaction between DQA1*Arg52 and DQB1*nonAsp57 and homozygosity for DQA1*Arg52/DQB1*nonAsp57, which encodes four susceptibility DQ heterodimers, confers a high risk.

Aside from congenital heart disease, anomalies associated with unilateral hypoplasia of the depressor anguli oris muscle have not been well-documented in large series. We evaluated the associated anomalies in 50 infants or children with this disorder (male:female = 2:1) and found accompanying anomalies in 35 (70%) of 50 cases. They included anomalies of the head and neck (48%), heart (44%), skeleton (22%), genitourinary tract (24%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%). Nearly half of our cases (22/50) had at least 2 associated systemic anomalies. Failure to thrive and psychomotor retardation were found in 5 (10%) and 3 (6%) patients, respectively, on follow-up. Three infants died neonatally of severe heart disorders, and the other one died of central nervous system anomalies. The above findings indicate that a thorough search for associated anomalies, particularly in the cardiovascular system, should be performed in all newborns with asymmetric crying face.

OBJECTIVES:To study whether early postnatal (<12 hours) dexamethasone therapy reduces the incidence of chronic lung disease in preterm infants with respiratory distress syndrome. MATERIALS AND METHODS:A multicenter randomized, double-blind clinical trial was undertaken on 262 (saline placebo, 130; dexamethasone, 132) preterm infants (<2000 g) who had respiratory distress syndrome and required mechanical ventilation shortly after birth. The sample size was calculated based on the 50% reduction in the incidence of chronic lung disease when early dexamethasone is used, allowing a 5% chance of a type I error and a 10% chance of a type II error. For infants who received dexamethasone, the dosing schedules were: 0.25 mg/kg/dose every 12 hours intravenously on days 1 through 7; 0.12 mg/kg/dose every 12 hours intravenously on days 8 through 14; 0.05 mg/kg/dose every 12 hours intravenously on days 15 through 21; and 0. 02 mg/kg/dose every 12 hours intravenously on days 22 through 28. A standard protocol for respiratory care was followed by the participating hospitals. The protocol emphasized the criteria of initiation and weaning from mechanical ventilation. The diagnosis of chronic lung disease based on oxygen dependence and abnormal chest roentgenogram was made at 28 days of age. To assess the effect of dexamethasone on pulmonary inflammatory response, serial tracheal aspirates were assayed for cell counts, protein, leukotriene B4, and 6-keto prostaglandin F1alpha. All infants were observed for possible side effects, including hypertension, hyperglycemia, sepsis, intraventricular hemorrhage, retinopathy of prematurity, cardiomyopathy, and alterations in calcium homeostasis, protein metabolism, and somatic growth. RESULTS:Infants in the dexamethasone group had a significantly lower incidence of chronic lung disease than infants in the placebo group either judged at 28 postnatal days (21/132 vs 40/130) or at 36 postconceptional weeks (20/132 vs 37/130). More infants in the dexamethasone group than in the placebo group were extubated during the study. There was no difference between the groups in mortality (39/130 vs 44/132); however, a higher proportion of infants in the dexamethasone group died in the late study period, probably attributable to infection or sepsis. There was no difference between the groups in duration of oxygen therapy and hospitalization. Early postnatal use of dexamethasone was associated with a significant decrease in tracheal aspirate cell counts, protein, leukotriene B4, and 6-keto prostaglandin F1alpha, suggesting a suppression of pulmonary inflammatory response. Significantly more infants in the dexamethasone group than in the placebo group had either bacteremia or clinical sepsis (43/132 vs 27/130). Other immediate, but transient, side effects observed in the dexamethasone group are: an increase in blood glucose and blood pressure, cardiac hypertrophy, hyperparathyroidism, and a transient delay in the rate of growth. CONCLUSIONS:In preterm infants with severe respiratory distress syndrome requiring assisted ventilation shortly after birth, early postnatal dexamethasone therapy reduces the incidence of chronic lung disease, probably on the basis of decreasing the pulmonary inflammatory process during the early neonatal period. Infection or sepsis is the major side effect that may affect the immediate outcome. Other observable side effects are transient. In view of the significant side effects and the lack of overall improvement in outcome and mortality, and the lack of long term follow-up data, the routine use of early dexamethasone therapy is not yet recommended.

Three comatose children with neurogenic diabetes insipidus were treated with intravenous infusion of vasopressin. The infusion of vasopressin was started at a dose of 1.3 to 2.7 mU/kg/h as soon as diabetes insipidus was diagnosed. The effect (urine flow < 2 ml/kg/h with increased specific gravity) was noted in 1 to 6 hours. The infusion rate of vasopressin was adjusted according to urine flow rate which was usually kept around 65 ml/100 kcal metabolized/day. Hypernatremia was corrected 17 to 53 hours after the initiation of infusion of vasopressin. The levels of sodium stayed between 127 and 151 mmol/l during a period of 2.5 to 22 days until the patients' death due to the termination of respiratory support or cardiac decompensation. A continuous infusion of vasopressin offered the advantage of rapid onset and termination of effect and therefore could be easily titrated. It seems a rational therapy for comatose children with neurogenic diabetes insipidus.

In order to delineate the efficacy of plasmin-treated intravenous gamma-globulin (IVGG) in the treatment of Kawasaki syndrome, we compared the frequency of coronary artery abnormalities in children treated or not with IVGG for Kawasaki syndrome. Among 291 cases of Kawasaki syndrome diagnosed during the period of 1987 to 1991 without coronary abnormalities within 10 days of the onset of illness, 128 were treated with IVGG and aspirin and were compared with 163 treated with aspirin alone. IVGG was given in a dosage of 400 mg/kg/day for 4 consecutive days. The detection of coronary abnormalities was monitored by two dimensional echocardiography. Two weeks after enrollment coronary artery abnormalities were present in 37 (22.7%) of 163 children in the aspirin group and in 9 (9%) of 128 in the gamma-globulin group (P < 0.05). Seven weeks after enrollment, abnormalities were present in 20 (12.3%) of 163 children in the aspirin group and in 6 (4.6%) of 128 in the IVGG group (P < 0.05). We conclude that plasmin-treated IVGG is effective in reducing the prevalence of coronary artery abnormalities in Kawasaki syndrome and suggest a predominant role of the Fc gamma fragment of IgG in the therapeutic effect.