Biomedical subjects
Publications and source records attributed to W A Murphy.
A case of tumoral calcinosis is presented. The characteristic clinical, radiologic, and pathologic features of this uncommon disease are described and the various speculations about its etiology are examined, based on a review of the approximately 150 cases which comprise the world literature concerning this disease. The differential diagnosis of periarticular calcified soft tissue masses is discussed.
Three sisters, each with chondrocalcinosis/arthropathy, are described who have the clinical, laboratory and pathologic findings characteristic of the adult form of hypophosphatasia. Premature loss of adult teeth, arthralgias and pain from bilateral femoral pseudo-fractures were associated with subnormal circulating alkaline phosphatase levels, phosphoethanolaminuria and osteomalacia diagnosed by iliac crest biopsy. Assay of alkaline phosphatase activity in the blood of kindred members revealed hypophosphatasemia in one of two younger brothers. Several subjects in subsequent generations also had suspiciously low alkaline phosphatase activity, but did not have histories of significant dental, bone or joint disease. Review of the medical records of the sisters' parents, aunts and uncles revealed normal alkaline phosphatase levels in their father and five of his siblings, but consistently low levels in their mother and two of her siblings. Despite hypophosphatasemia, the sisters' mother and her siblings lived to old age without clinical or radiographic evidence of bone disease. Our findings suggest that although adult hypophosphatasia can be transmitted as a dominant trait in some kindreds, there is considerable variation in the clinical expression of the biochemical defect. One person, generation or family may manifest clinical bone disease and arthropathy whereas the biochemical defect may be present but remain asymptomatic in others. Furthermore, in some cases, the adult form of hypophosphatasia may represent a developmental disorder with hypophosphatasemia appearing during adulthood.
Twenty-six women with untreated postmenopausal osteoporosis underwent iliac crest biopsy following tetracycline-labeling and mineral metabolism studies. Histomorphometric assessment of their bone remodeling rates, including formation determined by the tetracycline-labeling technique, revealed considerable variation. Eight women had no evidence of active bone formation (inactive remodeling osteoporosis), whereas the others showed a spectrum of bone formation rates (active remodeling osteoporosis). Clinical and biochemical studies failed to predict the histomorphometric findings. Postmenopausal osteoporosis is a histologically heterogeneous disorder with morphologic expression in bone that cannot be predicted by single or combined routine clinical and laboratory parameters. Bone biopsy, necessary to identify the histologic lesion and assess skeletal dynamics, may prove to be important for optimal therapy of osteoporosis, as a variety of agents--with different effects on bone remodeling--are available.
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Clinical delineation of the warfarin embryopathy and the recent discovery of osteocalcin (a vitamin K-dependent bone protein) suggest that coumadin therapy could adversely affect the skeleton. Using bone densitometry and metacarpal cortical width measurement, we found normal cortical bone mass in 17 adults receiving long term coumadin therapy.
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During a 28-month interval, the radiographs of eight cases of skeletonized remains were evaluated by a radiologist. Radiologic evaluation of limited anatomic parts (four cases) was used to establish human or nonhuman origin and was helpful in the assessment of the relative social importance of the part. Radiologic evaluation of more complete skeletons (four cases) contributed data toward estimation of sex, age, stature, and past medical history. It confirmed the presumptive identity in two cases, excluded two possible identities in a third, and could still be useful if a presumptive identity is ever established for the fourth. Therefore, radiologic evaluation of skeletonized remains by a trained observer may be a useful adjunct to a forensic science investigation.
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Bone mineral content was measured by photon absorption densitometry in 25 patients with rheumatic diseases receiving glucocorticoids on an alternate day treatment schedule, and in 25 age-, sex-, and race-matched patients receiving daily steroid therapy. Mean values for cortical (diaphyseal) mass, trabecular (metaphyseal) mass, and the cortical/trabecular mass ratios were not different in the two groups. Steroid-induced osteopenia, defined as an elevated ratio of cortical to trabecular mass, occurred in both therapeutic regimens (8 of 25 on alternate day; 11 of 25 on daily). Therefore, bone loss was demonstrable in individuals on alternate day regimens. Serum levels of calcium, ionized calcium, alkaline phosphatase, and parathyroid hormone were similar in the two groups.
The case of a 15-year-old girl with juxtaposition of a femoral metaphyseal fibrous defect (fibrous cortical defect) and an osteosarcoma is reported. Despite the relatively common occurrence of metaphyseal fibrous defects, their reported association with other bone tumors is exceedingly rare. Only two previous acceptable examples of this association were found. Reports of malignant transformation of metaphyseal fibrous defect were reviewed and rejected because they lacked convincing radiologic or histopathologic evidence of a pre-existent benign fibrous lesion. The finding of a malignant bone tumor in association with a metaphyseal fibrous defect appears to be a chance occurrence.
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We present clinical, laboratory, radiologic, genetic, and pathologic findings in a 49-year-old man with mixed-sclerosing-bone-dystrophy (MSBD), review the six cases previously reported as "MSBD", and examine the nosology of this rare bone dysplasia. Our asymptomatic patient showed radiographic changes consistent with osteopoikilosis, osteopathia striata, and melorheostosis and had widespread osteosclerosis of the axial skeleton. Several previous reports of combined osteosclerotic disorders suggest the latter finding represents osteopetrosis, however, histologic examination of our patient's iliac crest excluded that diagnosis. Limited radiographic surveys of his eight children were unremarkable except for isolated bone islands in two sons. Literature review revealed that "MSBD" has actually been used generically to describe the association of a variety of osteosclerotic bone dysplasias when they occur together in a single patient.
Fluoroscopically positioned spot films are widely used in gastrointestinal and chest roentgenography. Little or no mention is made of the diagnostic use of fluoroscopic spot filming for skeletal roentgenography in major tests or recent literature, and a rough survey of practicing radiologists showed us that such procedure was frequently underutilized or not utilized. While skeletal pathology is usually depicted quite accurately by plain radiographs there are times when a problem may be rapidly and simply clarified by fluoroscopically positioned spot films. In an attempt to assess the value of fluoroscopy for evaluation of musculoskeletal problems, we reviewed 46 cases in which fluoroscopically positioned spot films were obtained.
Axial osteomalacia--a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton, and osteomalacia on biopsy of a rib or iliac crest--has been reported in 10 apparently sporadic cases, all of which were in middle-aged or elderly Caucasian men. The etiology is unknown but has been postulated to be a bone cell defect. We describe the clinical, laboratory, pathologic and family study of a black mother and son with axial osteomalacia associated with polycystic liver and kidney disease. Investigation of the son suggested that radiographic osteosclerosis can be detected in early adulthood. Limited skeletal survey of his three children revealed no abnormalities. Examination of undecalcified iliac crest bone after in vivo tetracycline labeling revealed severe osteomalacia in the son despite normal circulating calcium, inorganic phosphate and vitamin D metabolite levels and persistently elevated alkaline phosphatase activity. Although osteoblasts appeared flat and inactive, histochemical studies showed intense alkaline phosphatase activity in the osteoblasts along most trabecular bone surfaces. Electron microscopy revealed intact matrix vesicles within unmineralized osteoid. The presence also of unexplained myopathy in the son--characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathogenic changes of myopathy on biopsy of quadriceps muscle--together with impaired bone mineralization, suggests that a disorder of vitamin D action may be involved in the pathogenesis of this unusual condition. Axial osteomalacia affects blacks as well as Caucasians, women as well as men, may be familial, and may perhaps be a developmental abnormality inherited in association with polycystic kidney and liver disease.
The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. In order to clarify the biochemical nature of the skin lesions, we have examined 12 patients with the Buschke-Ollendorf syndrome, representing 2 unrelated kindreds. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin secretions with pancreatic elastase completely removed these fibers. Electron microscopy of the dermis further revealed markedly branched elastic fibers without fragmentation. The accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. The desmosine content of the skin lesions increased 3- to 7-fold when compared to the skin either from healthy controls or from uninvolved skin adjacent to a lesion. The results indicate that the skin lesions of the Buschke-Ollendorff syndrome are connective tissue nevi of the elastin type. Cell cultures from these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism.
Computed tomography (CT) was used to examine 17 patients with various pathologic conditions (trauma, neoplasm, infection, or arthropathy) involving the sternoclavicular joint or sternum. CT required less time to perform and caused less discomfort to the patient than did conventional linear tomography. CT also demonstrated abnormalities better or provided additional useful diagnostic information in the majority of patients. When plain radiographs are not conclusive, CT is the preferred radiologic modality for the evaluation of the sternoclavicular joint and sternum.