No abstract

The spontaneous growth of 165 patients (75 girls and 90 boys) with Williams-Beuren syndrome was analysed in a mixed longitudinal and cross-sectional manner. Mean (+/- 1 SD) length at birth was 48.2 +/- 2.6 cm in girls (n = 52) and 49.0 +/- 3.0 cm in boys (n = 65). Intrauterine growth retardation (length below -2 SD of the normal population) was present in 35% of the girls and 22% of the boys. Poor growth was noted during the first 2 years of life. Until age 9 years in girls and 11 years in boys, mean growth followed the 3rd percentile. A pubertal growth spurt with normal growth rate was seen at age 10 years in girls and 13 years in boys, i.e. 1 to 2 years earlier than normal. Menarche also occurred earlier than normal at a mean age of 11.6 +/- 1.5 years (n = 28). Mean adult height was 153.9 +/- 6.9 cm in girls (n = 17) and 168.2 +/- 6.9 cm in boys (n = 27), approximately corresponding to the 3rd percentile in both sexes and correlating with the genetic height potential (target height). The mean deficit of adult height compared to target height was 10.2 cm in girls and 9.1 cm in boys. Skeletal development progressed at an approximately normal rate in both sexes.

The molecular characterisation of chromosomal aberrations in Xp22

Two different ventilation techniques were compared in a seven-centre, randomised trial with 181 preterm infants up to and including 32 completed weeks gestational age, who needed mechanical ventilation because of lung disease of any type. Technique A used a constant rate (60 cycles/min), inspiratory time (IT) (0.33s) and inspiratory: expiratory ratio (I:E) (1:2). The tidal and minute volume was only changed by varying peak inspiratory pressure until weaning via continuous positive airway pressure. Technique B used a lower rate (30 cycles/min) with longer IT (1.0 s). The I:E ratio could be changed from 1:1 to 2:1 in case of hypoxaemia. Chest X-rays taken at fixed intervals were evaluated by a paediatric radiologist and a neonatologist unaware of the type of ventilation used in the patients. A reduction of at least 20% in extra-alveolar air leakage (EAL) or death prior to EAL was supposed in infants ventilated by method A. A sequential design was used to test this hypothesis. The null hypothesis was rejected (P = 0.05) when the 22nd untied pair was completed. The largest reduction in EAL (-55%) was observed in the subgroup 31-32 weeks of gestation and none in the most immature group (< 28 weeks). We conclude that in preterm infants requiring mechanical ventilation for any reason of lung insufficiency, ventilation at 60 cycles/min and short IT (0.33 s) significantly reduces EAL or prior death compared with 30 cycles/min and a longer IT of 1 s. We speculate that a further increase in rate and reduction of IT would also lower the risk of barotrauma in the most immature and susceptible infants.

Using morphometry, the pulmonary vasculature in lungs obtained at autopsy from 8 patients with bronchopulmonary dysplasia (BPD) was studied. In these specimens the axial arterial pathway was similar in length to those of equivalently aged fetuses and increased with lengthening survival. The internal diameter of axial arteries was variable--excessively wide in 2 patients and diffusely narrow in 3. Microscopically, the percent medial thickness of muscular pulmonary arteries was reduced compared to fetal values and tended to be less in older patients. Compared to normal fetuses, there were more muscularized intraacinar arteries, suggesting peripheral extension of smooth muscle. Arterial concentrations were elevated in 2 long-term survivors. The weight of the cardiac right ventricle was reduced in 4 patients. These findings indicate that in patients with BPD there is a complex dual process of pathological remodeling and an attempt at normal anatomic adaptation of the pulmonary vasculature to extrauterine life.

Disseminated lymphangiomatosis is a rare disease mostly observed in children and young adults. If no surgical removal can be achieved, the prognosis is poor, especially for patients with thoracic localization and pleural effusions. Next to pleural drainage, therapeutic options include radiotherapy, local, and systemic pharmacotherapy. An 11-year-old boy presented with disseminated lymphangiomatosis involving thorax with massive pleural effusions, retroperitoneum, and bones. In immunohistochemical analysis, the tissue biopsy stained positive for vascular endothelial growth factor-receptor 3 (VEGFR-3). The patient has been treated with interferon alpha 2b for 2 years, and achieved a good clinical and radiological response.

Details of 25 cases of neonatal systemic air embolism, including three of our patients, are reviewed. This rare complication of respiratory distress syndrome (RDS) was observed in 21 premature infants and 4 fullterm newborns, of whom 23 required intermittent positive pressure ventilation (IPPV). In 21 of these patients air embolism was preceded by pulmonary interstitial emphysema, pneumomediastinum, pneumothorax and/or pneumopericardium. Air embolism occurred between 3 and 288 hours after delivery. The outcome was lethal in 24 cases, only one patient survived. Two main pathogenic mechanisms are discussed; entrance of air from ruptured alveoli into the lung capillaries and introduction of air via catheters in umbilical vessels.

Persistent lobar atelectasis in pediatric patients on mechanical ventilation results in impaired gas exchange and lung mechanics and contributes to a further need for mechanical ventilation. The most common types of atelectasis in children are resorption atelectasis following airway obstruction, and atelectasis due to surfactant deficiency or dysfunction. We aimed to determine whether bronchoscopic suctioning and surfactant application to atelectatic lung segments would result in improved oxygenation, ventilation, chest X-ray scoring, and early extubation. Five children with heterogeneous lung diseases (aged between 7 months and 15 years) were treated with a diluted surfactant preparation (Curosurf^TM) in a concentration of 5–10 mg/ml (total dose 120–240 mg) which was instilled into the affected segments. Outcome parameters were gas exchange, radiographic resolution of atelectasis and extubation. All mechanically ventilated patients could be extubated within 24 h following the intervention. Bronchoscopic surfactant application could be carried out without adverse effects and brought improvements in oxygenation, respiratory rate, and partial or complete resolution of atelectases without recurrence.