An analysis of PAX1 in the development of vertebral malformations.

An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its mutation in the undulated mouse. We performed DNA sequence analysis of the PAX1 gene in a series of 48 patients with congenital vertebral malformations, collectively spanning the entire vertebral column length. DNA sequence coding variants were identified in the heterozygous state in exon 4 in two male patients with thoracic vertebral malformations. One patient had T9 hypoplasia, T12 hemivertebrae and absent T10 pedicle, incomplete fusion of T7 posterior elements, ventricular septal defect, and polydactyly. This patient had a CCC (Pro)-->CTC (Leu) change at amino acid 410. This variant was not observed in 180 chromosomes tested in the National Institute of Environmental Health Sciences (NIEHS) single nucleotide polymorphism (SNP) database and occurred at a frequency of 0.3% in a diversity panel of 1066 human samples. The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). This particular variant has been reported to occur in one of 164 chromosomes in the NIEHS SNP database and was found to occur with a similar frequency of 0.8% in a diversity panel of 1066 human samples. Although each patient's mother was clinically asymptomatic and heterozygous for the respective variant allele, the possibility that these sequence variants have clinical significance is not excluded.

CT of small-bowel obstruction in children: sensitivity and specificity.

UNLABELLED: OBJECTIVE.:The aim of this study was to determine the sensitivity, specificity, and accuracy of CT in the diagnosis of small-bowel obstruction in children. MATERIALS AND METHODS: The CT scans of 30 children with surgically proven small-bowel obstruction, 22 children with ileus, and 29 children who served as controls were retrospectively reviewed by two of four interpreters who were unaware of the children's final diagnoses. Causes of obstruction in the patients included 19 adhesions, six cases of volvulus, five intussusceptions, four strictures, and two cases each of internal hernia and abscess. Eight obstructions had multiple causes. The CT scans were evaluated for the presence of small-bowel obstruction using a scale with five degrees of confidence. In cases of discrepancy of more than one level of certainty, a third interpreter was consulted. Criteria for small-bowel obstruction included a discrepancy in caliber between the proximal dilated and the more distal small bowels or generalized small-bowel dilatation (>2.5 cm) in the presence of a collapsed colon. An interpreter's rating that an obstruction was either present or probable was considered a positive finding; a rating indicating that the interpreter was not sure whether an obstruction was present or believed that an obstruction was not probable or saw normal anatomic structures was considered a negative finding for small-bowel obstruction. The cause and level of obstruction also were recorded. RESULTS: There were 26 true-positive (87%) and four false-negative (13%) interpretations for small-bowel obstruction. Among the interpretations of scans of patients with ileus, 68% were true-negative and 32% were false-positive interpretations for small-bowel obstruction. Among the control group, there were no false-positive readings. Sensitivity of CT was 87%, specificity was 86%, and accuracy was 86%. In the scans of children 2 years and younger, CT had a sensitivity of 100% and specificity of 0%. Of the patients with surgically confirmed levels of obstruction, the correct level of obstruction was described by both interpreters in 12 (86%) of 14 scans. The causes of obstruction were correctly identified in 14 (47%) of 30 scans. CONCLUSION: CT is both sensitive and specific for use in diagnosing small-bowel obstruction in children, especially in children older than 2 years.

Breeder reactors in france.

France relies on nuclear power as an important part of her energy program. Anticipating problems with the availability of natural uranium before the year 2020, the French have been pursuing a three-stage program of development of breeder reactors. The third reactor in this program, the near-commercial plant Super Phenix Mark I, is expected to reach power operation in 1983. Although there are still some uncertainties, particularly about the date when the breeder will become competitive with other energy sources, the outlook is considered favorable and preliminary designs for commercial plants are under way.

Energy choices for the next 15 years: a view from europe.

A European perception of the world energy situation and its likely evolution during the next two decades is presented. French energy policy is then discussed as a possible set of consistent choices that can be made to deal with the energy situation in a regional context for the next 15 years.