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Biomedical subjects

F Horan

Publications and source records attributed to F Horan.

12 recordsLinked to original sources

Obesity and joint replacement.

There has been considerable discussion as to the influence of obesity on the indications for, and the outcome after, joint replacement. Attempts have been made to withhold funding for such procedures in those who are overweight. What is the justification for this? This editorial examines the current evidence concerning the influence of obesity on joint replacement and suggests that it is only in the morbidly obese, with a body mass index > 40 kg/m(2), that significant contraindications to operation are present.

Arthroplasty, Replacement↗

Medical nursing.

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Education, Nursing, Continuing↗

Craniometaphyseal dysplasia--variability of expression within a large family.

Fifteen individuals in five generations of a kindred with branches in South Africa and England had the autosomal dominant form of craniometaphyseal dysplasia. The majority of affected adults had mild to moderate mandibular distortion, while paranasal bossing was a transient manifestation in childhood. Facial palsy with onset in childhood was present either unilaterally or bilaterally in about 30% of the patients, while 50% had auditory dysfunction which varied from mild impairment of hearing to total deafness. Stature and intellect were normal, and bone fragility, osteomyelitis and dyshaemopoesis were not features of the condition. Five other potentially affected family members had deafness or facial palsy of uncertain aetiology in the absence of other stigmata of CMD. It is uncertain whether these complications represent minor degrees of phenotypic expression of the abnormal gene.

Adolescent↗

Deafness in Black children is Southern Africa.

An aetiological survey of 499 deaf Black children in 3 schools in Southern Africa is reported. Specific genetic syndromes were identified in 21 children, of whom 13 had the Waardenburg syndrome. Inherited deafness without associated defects was diagnosed in further 32 children, and an indentifiable acquired cause was evident in 108 children (22%). No cause could be found in the remaining 338 children (68%), of whom 71 had various nonspecific congenital anomalies.

Adolescent↗

A review of the osteopetroses.

The osteopetroses are a group of conditions which are characterized by varying combinations of bony sclerosis and modelling defects. Classical osteopetrosis may be inherited as an autosomal dominant or autosomal recessive: the former variety is benign, heterogeneous and comparatively common, while the latter is precocious, potentially lethal and rare. Many other craniotubular dysplasias and hyperostoses are loosely grouped with the osteopetroses. The commonest of these is the autosomal dominant form of craniometaphyseal dysplasia, while the others which are well known include Pyle disease, and van Buchem disease. Sclerosteosis is a progressive condition in which massive cranial thickening is associated with syndactyly and gigantism. Each of these disorders has specific clinical and radiographic features, which permit recognition. Diagnostic accuracy is crucial for treatment, prognostication and effective genetic management.

Chromosome Aberrations↗

Parastremmatic dwarfism.

A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance.

Bone Diseases, Developmental↗

Pyoderma Gangrenosum and rheumatoid arthritis.

Two patients had pyoderma gangrenosum and rheumatoid arthritis. Biopsy specimens of the cutaneous ulcers in the patients showed a necrotizing vasculitis. Complement (C3) and immunoglobulins were not detected in the skin lesions. There was no important impairment of cell-mediated immunity observed.

Aged↗

Abortion: who decides?

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Abortion, Induced↗