Cranio-metaphyseal dysplasia (report of 3 cases--two infants and one adult).
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Biomedical subjects
Publications and source records attributed to P Sprague.
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This is a retrospective study of 91 patients treated for intussusception between 1982 and 1984. Criteria for inclusion in the study were the finding of a classical radiological appearance on Barium enema examination or the presence of an intussusception at operation. The clinical features are described. A protocol of management first reported in 1983 was followed with 90 of 91 patients submitted to a diagnostic and/or therapeutic Barium enema. As a result of recent experience, the protocol has been modified in selected patients at the discretion of the surgeon and the radiologist. A success rate of Barium enema reduction of 78% was achieved, which is higher than in previous Princess Margaret Hospital studies; there was recurrence of the intussusception in 12 patients following hydrostatic reduction. Further Barium enema reduction was successful in 11 and operation in one. There was no mortality and minimal morbidity.
Thirteen cases of osteoid osteoma and nine cases of osteoblastoma are reported. Diagnostic difficulties of osteoblastoma are illustrated by the versatile radiographic appearances of this tumour. The authors stress the importance of nuclear scan and CT in diagnosis and management.
Thigh pain is a serious condition in childhood and should be promptly and thoroughly investigated. Twenty-five cases of thigh pain lasting between 1 day and 7 months with mid-femoral periosteal thickening were analysed. There were 10 patients with Ewing's sarcoma, 7 with eosinophilic granuloma, 1 with osteoid osteoma, 1 with leukaemia, 3 with osteomyelitis, 1 with myositis and 2 with post-traumatic periosteal reaction. It was shown that patients with Ewing's sarcoma and eosinophilic granuloma have certain patterns of X-ray changes of high diagnostic value, which allow a proper diagnosis in most cases.
Bone scans from 43 children referred with hip pain of uncertain cause were reviewed. The bone scan was abnormal in 36 patients: normal in 7. In 12 the findings were diagnostic: osteomyelitis, osteoid osteoma, osteomyelitis with septic arthritis, Perthes' Disease and juvenile chronic arthritis. Twenty-four patients had abnormal scans including diffuse peri-articular increase and of these 18 had transient synovitis. Immobilisation and trauma accounted for the remainder. Isotope bone scans have been found to be a valuable investigation in children presenting with hip pain or limp, where the x-rays may appear normal or nondiagnostic.
Sixteen cases of mandibular tumors or paramandibular soft tissue tumors with mandibular involvement are reported. These include such rare mandibular tumors or tumor-like conditions as melanotic progonoma, intraosseous haematoma secondary to von Willebrand's disease, post-irradiation osteosarcoma, monostotic eosinophilic granuloma, aneurysmal bone cyst and osseous hemangiopericytoma. Three cases of cherubism, one of fibrous dysplasia or aggressive fibromatosis and one of central giant cell reparative granuloma are also reported. The soft tissue tumors comprise round cell sarcoma, parotid adeno-carcinoma with generalised metastases, embryonal rhabdo-myo-sarcoma, neuro-fibro-sarcoma and congenital cystic hygroma. In all the cases the disease was well advanced when the patient presented for X-ray examination. The specific X-ray diagnosis of mandibular and paramandibular tumors in childhood is more difficult than that of similar tumors in other parts of the body.
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The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome 3 are described and discussed in relation to previously reported cases and the existence of a distinct syndrome of trisomy 3q is confirmed. Assignment of the gene for human red blood cell galactose-1-uridyltransferase is discussed.
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A new algorithm for identifying three-dimensional configurations of chemical features common to a set of molecules is described. The algorithm scores each configuration based both on the degree to which it is common to the input set and its estimated rarity. The algorithm can be applied to molecules with large (several hundred) conformational models. Results from the application of this algorithm to three data sets are discussed: PAF antagonists, HIV reverse transcriptase inhibitors, and HIV protease inhibitors. Of particular interest is a common configuration identified for a set of HIV reverse transcriptase inhibitors; this configuration is shared by two new, potent inhibitors that were recently described in the literature.
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