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Biomedical subjects

H R Cowell

Publications and source records attributed to H R Cowell.

At least 37 records · Page 2Linked to original sources

The prevention of genetically determined orthopaedic defects.

Prevention of genetically determined orthopaedic disorders requires five steps: detection, the establishment of an accurate and specific diagnosis, the establishment of the pattern of inheritance, counseling, and management by early treatment, avoidance of pregnancy, or elective abortion. Elective abortion should only be considered after the diagnosis has been confirmed in utero by one or more diagnostic tests, which include radiography, ultrasound, amniocentesis, fetoscopy, fetal blood sampling, and chorionic villi biopsy sampling.

Bone Diseases, Developmental↗

Triple arthrodesis. A critical long-term review.

The results of triple arthrodesis performed in 80 feet and followed for an average of 13 years are reviewed. Although the majority of patients were very pleased, the results of objective assessment were less favourable. There was a high incidence of degenerative joint changes in the ankle and midfoot and also of pseudarthrosis, avascular necrosis of the talus and residual deformity. Pre-operative rigid equinovarus deformity produced the majority of the poor results. It is suggested that bony resection alone might not be the best means of correcting severe equinus.

Adolescent↗

Physeal, metaphyseal, and diaphyseal injuries of the lower extremities in children with myelomeningocele.

A study of 16 patients with myelomeningocele who sustained 37 fractures revealed that children with diaphyseal and metaphyseal fractures presented with local warmth, redness, swelling, and increased general body temperature, leukocytosis, and sedimentation rate. These fractures were the result of a single stress or trauma and healed uneventfully by splinting for approximately 4 weeks. In physeal injuries, which probably resulted from repetitive stresses, the systemic response was less pronounced. These injuries had to be immobilized more rigidly in plaster casts for a minimum of 8 weeks.

Adolescent↗

Assignment of the human dihydrofolate reductase gene to the q11----q22 region of chromosome 5.

Cells from a dihydrofolate reductase-deficient Chinese hamster ovary cell line were hybridized to human fetal skin fibroblast cells. Nineteen dihydrofolate reductase-positive hybrid clones were isolated and characterized. Cytogenetic and biochemical analyses of these clones have shown that the human dihydrofolate reductase (DHFR) gene is located on chromosome 5. Three of these hybrid cell lines contained different terminal deletions of chromosome 5. An analysis of the breakpoints of these deletions has demonstrated that the DHFR gene resides in the q11----q22 region.

Animals↗

Ullrich-Turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3.

We report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich-Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: 1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; 2) monosomy X (45,X) in 70% of cells; 3) isochromosome X (46,X,i(Xq)) in 30% of cells. The karyotype designation is: 45,X,inv(3) (p25q21)pat/46,X,i(Xq), inv(3) (p25q21)pat. The pedigree, which was originally interpreted as representing the segregation of a 2;3 translocation, is corrected and updated. Reproductive risks in families with pericentric inversions are discussed.

Body Height↗

Genetic considerations of foot anomalies in office practice.

Basic genetic principles are reviewed, with special reference to foot anomalies. The cytogenetics of Mendelian disorders (autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive) are explained, with attention to penetrance and variable expressivity. Multifactorial conditions and chromosome structural defects are also discussed. The value of tracing family genetics patterns and performing chromosome studies for diagnosing and counseling orthopaedic patients is under-scored. The mechanics of genetic principles, explained in the article, are shown to be worthwhile tools in orthopaedic medicine.

Chromosome Aberrations↗

Surgical reconstruction for calcaneonavicular coalition. Evaluation of function and gait.

The function of nineteen patients was evaluated at three to fourteen years after reconstructive surgery for calcaneonavicular coalition. Measurements of subtalar motion, single-limb functional tests, and gait analyses were carried out to determine how function in these patients differed from normal. Better function correlated well with better postoperative subtalar motion. Patients with a unilateral coalition who had good subtalar motion after resection showed symmetrical gait patterns during tests of function of the subtalar joint under conditions of stress.

Adolescent↗