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.

Periosteum: its relation to pediatric fractures.

The periosteum is an important factor for bone healing in children and plays a vital role for bone remodeling throughout life. Its intimate relation with the growth plate might influence overgrowth in children and correction of angular deformities. However, more research is warranted to illuminate its exact function.

Spinal epidural abscesses in children.

Spinal epidural abscess (SEA) is rare, especially in children, in which fewer than 90 cases have been reported. We present three case examples illustrating the complex course before diagnosis and treatment. All patients had back pain, but two had pain of the abdomen or extremity dominating the clinical picture. Magnetic resonance imaging (MRI) was found to be the best diagnostic test. All had surgery with full recovery. A literature review of 58 cases since 1945 was done and showed that 76% of children had neurological compromise before surgery, and the overall mortality rate in children was 12%.

Hip involvement in juvenile rheumatoid arthritis.

We followed 386 children who met the criteria for juvenile rheumatoid arthritis (JRA) an average of 89 months. Hip involvement in JRA results in poor functional capacity. The prognosis for the pauciarticular group is good, but patients with onset at age greater than 6 years appear to do worse than those aged less than 6 years. In the polyarticular group, age of onset did not change the prognosis, whereas the systemic-onset group aged less than 6 years had a worse prognosis and more frequent radiographic changes than the older group.

Limb-length discrepancy measured with computerized axial tomographic equipment.

A simple, rapid, and accurate method for measuring limb-length discrepancies with computerized axial tomographic equipment is described. With this method less irradiation is delivered and some of the errors of computation are eliminated, compared with conventional methods. The costs of the technique are comparable with those of scanograms. The method is particularly applicable in the patient who has contracture of a joint.