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Biomedical subjects

J M Connor

Publications and source records attributed to J M Connor.

At least 163 records · Page 9Linked to original sources
PubMed1983

Dysplasia epiphysialis hemimelica. A clinical and genetic study.

The clinical features of nine new patients with dysplasia epiphysialis hemimelica are reported, with a long-term follow-up on a further seven patients who were described in the earliest case reports of this disease. Each of these 16 patients had only one leg involved, but 12 had multiple epiphyses affected. The distal femur, distal tibia and talus were the commonest sites and most patients presented with painless swelling or deformity. Wasting of the muscles of the affected leg was a common finding, and was occasionally disproportionate to the degree of disuse. One patient had the unique combination of involvement of the lateral and medial halves of different epiphyses in the same limb and another had unusual metaphysial changes. Diagnosis was often delayed despite typical radiographic appearances. There was no evidence for a genetic component in the aetiology nor was any common environmental factor identified. Treatment by local excision was generally effective for lesions in the vicinity of the knee, but some patients with involvement of the talus required arthrodesis around the ankle. The long-term prognosis appears to be good and so far only two of these patients have developed premature osteoarthritis.

Adolescent↗
PubMed1982

Fibrodysplasia ossificans progressiva in South Africa. Case reports.

Six patients with fibrodysplasia ossificans progressiva, a condition not previously reported in Blacks in this country, have been reviewed. All had serious physical disability and medical or surgical therapy did not influence the course of the disease. By extrapolation from prevalence data established in Britain, it can be estimated that there are at least 10 additional affected individuals in southern Africa.

Adolescent↗
PubMed1982

A self-report measure of assertiveness in young adolescents.

Reported a self-report measure of adolescents' assertiveness. Items for this scale were presented to young adolescents (N = 78) and subsequently were subjected to a factor analysis that revealed factors of submissiveness, aggressiveness, and assertiveness. Teacher ratings and behavioral responses during a role-play test also were obtained and provide additional validational evidence in support of the scale. After the validational study, a small assertiveness training program was conducted to evaluate the efficacy of standard treatment procedures with this population. Results indicated that training effects were obtained and that the effects generalized to situations that had not been employed during training.

Adolescent↗
PubMed1982

Extra-articular ankylosis in fibrodysplasia ossificans progressiva.

Forty-four patients with fibrodysplasia ossificans progressiva were identified by a national survey in the United Kingdom. All patients had diagnostic skeletal malformations in addition to ectopic ossification in voluntary muscles and ligaments. Twenty-three of 34 patients (68 per cent) who were traced and examined had limitation of mandibular movement due to ectopic ossification in the muscles of mastication. In three cases such involvement was precipitated by dental therapy and in a further three by other trauma. Operative treatment of the established case was ineffective. Thus management must aim to avoid unnecessary jaw trauma.

Adolescent↗
PubMed1982

The radiological spectrum of fibrodysplasia ossificans progressiva.

The radiographic manifestations of nine South African patients with fibrodysplasia ossificans progressiva (FOP) have been analysed in detail. In three of these individuals, a 10--15 year follow-up was available. The condition usually presents before the age of 5 years; in one infant, abnormal calcification was demonstrated at 9 months. The disorder is remorselessly progressive but the hands, diaphragm and viscera are spared. Ossification in ligaments at the site of their attachment to long bones produces a 'pseudo-exostosis' appearance. Tethering of the shafts of long bones and growth at the proximal metaphyses can result in dislocation of shoulder and hip joints. In the hip joint the sloping configuration of the acetabular roof is produced by normal growth at the proximal metaphyseal end of the tethered femur. Calcification in periarticular tissues, together with bony and fibrous ankylosis, contributed to joint fixation. A similar process of growth inhibition leads to disparity in size between the bodies of the cervical vertebrae and their posterior appendages. It is concluded that apart from the developmental abnormality in the great toes, the skeletal changes in FOP are the consequence of soft tissue ossification and that the condition is not a primary bone dysplasia.

Arthrography↗
PubMed1982

Genetic aspects of fibrodysplasia ossificans progressiva.

Complete ascertainment of fibrodysplasia ossificans progressiva in the United Kingdom was attempted and 44 patients were identified. This indicates a point prevalence of 0.61 x 10(-6). The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. No evidence for genetic heterogeneity was found in this series. All patients represented fresh gene mutations and their biological fitness was zero. Geographical clustering of these new mutations was evident but conformed to the general population distribution. The direct estimate of the mutation rate was 1.8 (SE +/- 1.04) x 10(-6) mutations per gene per generation. A significant paternal age effect was evident for these new mutations in the United Kingdom.

Adolescent↗
PubMed1982

The cervical spine in fibrodysplasia ossificans progressiva.

Radiographs of the cervical spine in 11 patients with fibrodysplasia ossificans progressiva (FOP) have been examined, and abnormalities found in all. In 4, small cervical vertebral bodies with enlarged pedicles were seen in early childhood; later, variable fusion of the vertebrae was apparent in all patients. This fusion was first noted between adjacent neural arches in late childhood but also involved the vertebral bodies in some adult patients. It was only sometimes associated with ossification of the adjacent neck muscles, and appeared to be an important cause of neck stiffness in FOP. The radiological changes may be confused with those of Still's disease or of the Klippel-Feil syndrome.

Adolescent↗
PubMed1982

Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.

Thirty-four patients wtih fibrodysplasia (syn., myositis) ossificans progressiva are described. Marked delay in diagnosis was usual, but all had characteristic skeletal malformations and ectopic ossification. The clinical features included: four types of malformation of the big toe, reduction defects of all digits, deafness, baldness of the scalp, and mental retardation. Progression of disability was erratic in all, but severe restriction of movement of the shoulder and spine was usual by the age of 10 years; the hips were usually involved by the age of 20 years; and most patients were confined to a chair by the age of 30 years. Exacerbating factors included trauma to the muscles, biopsy of the lumps, operations to excise ectopic bone, intramuscular injections, careless venepuncture and dental therapy. Progression of disability did not appear to be influenced by any form of medical treatment and therefore management of the patients must concentrate on the avoidance of exacerbating factors.

Adolescent↗
PubMed1981

Dyskeratosis congenita. Report of a large kindred.

This kindred includes six males with dyskeratosis congenita. It is the largest British pedigree so far reported and brings the total number of reported cases to fifty-nine. Our pedigree supports X-linked recessive inheritance and close linkage with the Xga locus was excluded. Three previously unreported complications are noted: Hodgkin's disease, adenocarcinoma of the pancreas and deafness. Normal chromosomal stability was found in three patients and immunological studies precluded an early universal defect in cell-mediated immunity.

Adult↗
PubMed1981

Cardiopulmonary function in fibrodysplasia ossificans progressiva.

Cardiopulmonary function was evaluated in 21 patients with fibrodysplasia ossificans progressiva. Neither cardiac enlargement nor failure was observed, but six patients had abnormal electrocardiograms. All had marked restrictive spirometry because of chest wall fixation and depended upon diaphragmatic respiration. The severity of chest restriction was independent of sex, age, duration of disease, and extnet of other physical disability. Progression to chronic respiratory failure was not observed. Chest infection in the presence of diminished pulmonary reserve is the major hazard of life in this rare disease and prophylactic measures should be considered.

Adolescent↗
PubMed1980

Memory scanning in a visual search task by schizophrenics and normals.

Chronic schizophrenics, acute schizophrenics (N = 18), and normals (N = 9) participated in a memory scanning task in which the visual display consisted of either common words, word-like strings of letters, or randomly arranged letters. Unlike earlier results, the slope of the function that relates reaction time to memory set size was significantly higher for the two schizophrenic groups than for the normal group. Among the chronic schizophrenics only reaction time to word display was higher than to display with random letters. The implications for theories that hypothesize deficits at specific stages of processing among schizophrenics are discussed.

Adult↗