The cloning and sequencing of the genes encoding phytase (phy) and pH 2.5-optimum acid phosphatase (aph) from Aspergillus niger var. awamori.

The genes encoding phytase (EC 3.1.3.8) and pH 2.5-optimum acid phosphatase (EC 3.1.3.2) have been cloned and sequenced from Aspergillus niger var. awamori. The translated nucleotide sequences yielded polypeptides of 467 and 479 amino acids (aa) for phytase and acid phosphatase, respectively. The genes were isolated using oligodeoxyribonucleotide probes based on the aa sequences of the purified proteins. Recombinant A. niger var. awamori strains carrying additional copies of the gene sequences demonstrated elevated enzyme activities.

Abnormal ossification of the hyoid bone in cleidocranial dysplasia.

Radiographs of the hyoid region of 13 patients with cleidocranial dysplasia were reviewed. In all but one the hyoid bone was less ossified than normal. Delayed ossification, affecting the skull, the teeth, the pelvis and the extremities, is a known, frequent manifestation of this abnormality.

Operation Everest II: gas tensions in expired air and arterial blood at extreme altitude.

Measurements in alveolar gas have suggested extreme hypocapnia and alkalosis on the summit of Mt. Everest. However, tensions in both expired gas and arterial blood have not been reported for the summit of Mt. Everest (PIO2 = 43 mm Hg). To approach the problem, we examined alveolar (and end-tidal) and arterial gas tensions in 6 healthy men who completed a 40-d chamber study to the simulated "summit," with 20 d above 6,400 m and 9 d above 8,000 m. In 27 simultaneous samples of alveolar air and arterial blood for inspired oxygen tensions ranging from PIO2 of 55 mm Hg (7,380 m) to 43 mm Hg, the mean alveolar-arterial difference was negligible for PO2 (-0.8 +/- 2.4 (S.D.) mm Hg) and PCO2 (0.5 +/- 1.4 mm Hg). For all 6 subjects at the summit, PACO2 was 12.0 +/- 1.8 and PACO2 was 11.4 +/- 1.6 mm Hg, and for the two with the lowest values, alveolar and arterial PCO2, respectively, were 9.5 and 9.8 mm Hg. Arterial pH averaged 7.53 units. We conclude that while acclimatization to severe hypoxia results in extreme hypocapnia, alkalosis is more moderate than previously reported. Alveolar gas tensions reflect well the values obtained in arterial blood.

Effects of physical activity, dietary calcium intake and selected lifestyle factors on bone density in young women.

To assess the possible effects of physical activity, calcium intake and lifestyle factors on bone density, we measured the calcaneal bone density of 101 healthy female volunteers aged 20 to 35 years. Information was obtained through questionnaires and 1-week and 2-week recall tests. There appeared to be no relation between height, weight or age and bone density in the study sample. Childhood milk consumption, current dietary calcium intake, level of avocational physical activity and lifestyle variables such as cigarette smoking and coffee consumption, considered separately, did not reach statistically significant levels as determinants of bone density. Childhood physical activity level appeared to have a significant positive effect on bone density.

Pneumomediastinum caused by foreign body aspiration in children.

In a retrospective review of 155 children with tracheobronchial foreign body aspiration (FBA), there were ten patients who had pneumomediastinum (PM) on an initial chest radiograph. Nine of ten presented with PM and one patient had PM noted after bronchoscopy. In a child less than two years of age with no history of trauma, the radiographic finding of PM should prompt further investigation for FBA.

Bacterial tracheitis in children.

We examined the records of 14 patients aged 7 months to 10 1/4 years who were treated for bacterial tracheitis from May 1982 to December 1987; the management protocol for 13 of the patients included the use of nasotracheal intubation. The infection was caused by Staphylococcus aureus in seven, Haemophilus influenzae in three, Branhamella catarrhalis in one and Streptococcus pneumoniae in one. Both H. influenzae and B. catarrhalis were isolated in another patient, and no organism was found in the remaining patient. In addition to the bacteria, viruses were cultured from the tracheal secretions of two patients. The mean duration of intubation was 7.6 days and of hospital stay 9.2 days. Twelve of the cases occurred during the cold months of the year (October to March). Of the three deaths only one occurred in the pediatric intensive care unit and was due to severe bronchospasm and an air leak that caused bilateral pneumothorax and pneumomediastinum. In one patient subglottic stenosis developed that necessitated tracheostomy. Healing began 5 to 9 days after the onset of symptoms, as demonstrated with the use of repeated fibreoptic bronchoscopy. We found that the airway could be safely managed with the use of a nasotracheal tube. Bronchoscopy helped to confirm the diagnosis, to remove adherent secretions and to monitor the course of the disease. The ventilation tube can be removed after the patient's temperature returns to normal, if there is an air leak around the tube, if the quantity and viscosity of the secretions decrease and if healing is observed at bronchoscopy.

Radiographic findings in liveborn triploidy.

The detailed radiographic features of triploidy, a fatal congenital disorder with 69 chromosomes, have not previously been reported. Radiographs of ten liveborn infants with chromosomally confirmed triploidy showed six findings highly suggestive of this diagnosis: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation of long bones, upswept clavicles and antimongoloid pelvis. Sixteen other less specific findings showed many similarities to those found in trisomy 18.

Operation Everest II: muscle energetics during maximal exhaustive exercise.

To investigate the metabolic basis for the reduction in peak blood lactate concentration that occurs with maximal exercise after acclimatization to altitude, eight male subjects [maximal O2 uptake of 51.2 +/- 3.0 (SE) ml.kg-1.min-1] were acclimated to progressive hypobaria over a 40-day period. Before decompression (SL-1), at 380 and 282 Torr, and on return to sea level (SL-2) the subjects performed progressive cycle exercise to exhaustion. Analysis of muscle samples obtained from the vastus lateralis before exercise and at exhaustion indicated a pronounced reduction (P less than 0.05) in muscle lactate concentration (mmol/kg dry wt) at 282 Torr (39.2 +/- 11) compared with SL-1 (113 +/- 9.7), 380 Torr (94.6 +/- 18), and SL-2 (92.7 +/- 22). For the other glycolytic intermediates studied (glucose 1-phosphate, glucose 6-phosphate, fructose 6-phosphate, fructose 1,6-bisphosphate, and pyruvate) only the increase in glucose 1-phosphate, glucose 6-phosphate, and fructose 6-phosphate were blunted (P less than 0.05) at 282 Torr. The reduction in muscle glycogen concentration during exercise was similar (P less than 0.05) for all environmental conditions. Although exercise resulted in reductions (P less than 0.05) in ATP and creatine phosphate averaging 30 and 51%, respectively, the magnitude of the change was not dependent on the degree of hypobaria. Inosine monophosphate was elevated (P less than 0.05) approximately 11-fold with exercise at both SL-1 and SL-2. These findings support the hypothesis that the lower lactate concentration observed at 282 Torr after exhaustive exercise is due to a reduction in anaerobic glycolysis.(ABSTRACT TRUNCATED AT 250 WORDS)

Osteoporosis, calcium and physical activity.

Sales of calcium supplements have increased dramatically since 1983, as middle-aged women seek to prevent or treat bone loss due to osteoporosis. However, epidemiologic studies have failed to support the hypothesis that larger amounts of calcium are associated with increased bone density or a decreased incidence of fractures. The authors examine the evidence from controlled trials on the effects of calcium supplementation and physical activity on bone loss and find that weight-bearing activity, if undertaken early in life and on a regular basis, can increase the peak bone mass of early adulthood, delay the onset of bone loss and reduce the rate of loss. All of these factors will delay the onset of fractures. Carefully planned and supervised physical activity programs can also provide a safe, effective therapy for people who have osteoporosis.

Murk Jansen's metaphyseal chondrodysplasia with long-term followup.

The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities.

Cystic fibrosis: a comparison of computed tomography and plain chest radiographs.

In patients with cystic fibrosis, plain chest radiographs may suggest the presence of bronchiectasis, bronchoceles, hilar adenopathy, or pulmonary arterial hypertension. We compared computed tomography (CT) with conventional chest radiography in 12 patients. CT clearly reveals the cause of increased linear markings, nodular lesions, and enlarged hila as seen on plain chest radiographs. It showed that nine patients had hilar adenopathy, five had enlarged pulmonary arteries, and 11 had bronchiectasis. Bronchoceles, a finding that may influence therapy, were seen on seven CT scans but on only four of the plain films.

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.