Biomedical subjects
Publications and source records attributed to J D Macfarlane.
A 63-year-old man presented with spinal cord compression caused by rheumatoid discitis at a high thoracic level. Nuclear magnetic resonance imaging proved to be very useful in evaluating the extent of the inflammatory process. Early decompression and internal fixation resulted in cure with only some residual functional impairment.
A large aneurysm of the superior mesenteric artery was the presumed cause of abdominal pain in an 11-year-old girl with Ehlers-Danlos syndrome. This aneurysm was readily identified by ultrasonography, suggesting that this method could be the diagnostic technique of choice in this disorder.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
A 62-year-old woman with severe von Willebrand's disease and a long history of joint complaints is presented. Her history, the progressive radiological findings, the demonstration of haemarthrosis and a literature review support the view that some patients with von Willebrand's disease can suffer from an incapacitating arthropathy akin to that seen in haemophilia.
The classic oral features of hypophosphatasia, namely, premature tooth loss and large pulp spaces, were found in a young adult woman with bone and joint pains. A study of 22 family members revealed several with dental abnormalities such as abnormal enamel, dentin, or cementum formation, decreased mandibular bone density, and abnormally large pulp spaces. Only the propositus' sister fulfilled the biochemical criteria for hypophosphatasia. Biochemical examination of an extracted tooth from this sister showed phosphate and alkaline phosphatase values that were 7 to 10 times lower than normal and reduced concentrations of the essential cofactors Zn++ and Co++. The spectrum of dental abnormalities is reviewed. This family study reveals that enamel hypoplasia, increased pulp spaces, and premature tooth loss are present not only in the deciduous but also in the permanent dentition. These findings should draw the dentist's attention to this condition.
Hypophosphatasia is an inherited disease in which a deficiency of the bone/liver/kidney or tissue nonspecific isoenzyme of alkaline phosphatase (AP; EC 3.1.3.1) occurs. All forms of the disease are characterized clinically by defective mineralization. Several biochemical abnormalities are associated with the deficiency of AP activity, e.g., increased urinary excretion of inorganic pyrophosphate (PPi) and phosphoethanolamine (PEA). Measurement of these analytes in kindreds of patients with hypophosphatasia may be useful in identifying carriers, and in understanding the inheritance of the disease. We studied biochemically 22 members of the kindred of a 24-year-old woman with hypophosphatasia. We measured activity of AP in serum and leukocytes, and the urinary excretion of PPi and PEA. Within this kindred, urinary excretion of PPi appeared to indicate carrier status, and among the clinically normal adults, values for this analyte were inversely correlated with the activity of AP in serum. These results suggest that urinary excretion of PPi is sensitive to subtle changes in the activity of AP.
This report details seven patients who had an arthropathy at presentation of their haemochromatosis. The spectrum ranged from arthralgia and normal radiographs to classic polyarthritis and the typical radiological triad of joint-space narrowing, sclerosis and cysts. Some atypical presentations are highlighted. An early diagnosis of haemochromatosis requires clinical suspicion; support can be obtained from serum iron studies, particularly saturation of iron-binding capacity and ferritin, and from biopsy of liver and/or synovium.
Sixteen hips in 11 patients with an inflammatory hip arthropathy were treated with an uncemented, double-cup arthroplasty (Gerard design). The results were good in ten patients after a mean follow-up period of 4.1 years.
The radiological findings in a 24 year old female with hypophosphatasia included frayed joint surfaces, intra- and peri-articular, and paravertebral calcification. These changes were compared to the usual radiographic findings in hypophosphatasia and prompted a family study. Excessive spinal osteophytosis and/or chondrocalcinosis was a relatively frequent finding in the relatives and it is suggested that these changes might indicate the heterozygous state.
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In a retrospective study at a single rheumatology centre of 72 patients with symptomatic arthrosis of the knee, more than 50% of the clinical phenomena improved within six months while patients were treated conservatively. This improvement appeared to be irrespective of age and duration of knee complaints except for a group of obese patients with symptoms for more than one year.
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A 50-year-old Vietnamese boat refugee presented with an oligoarthritis which had been present for the two years since her arrival in The Netherlands. Her medical history was unremarkable but a peripheral eosinophilia of 20% prompted investigations leading to the isolation of Strongyloides stercoralis from the faeces. The clinical picture resolved completely after therapy with thiabendazole.
Progressive cavitating changes in the lung apices were found in a middle-aged man with seropositive rheumatoid arthritis. These findings were attributed at autopsy to a combination of nodule-type formation, necrosis, and mild fibrosis.
The authors describe 7 male patients from two unrelated families who presented with what appears to be a heretofore undiagnosed X-linked variant of Ehlers-Danlos syndrome. Unlike the eight previously reported types, this variant is manifested by specific skeletal abnormalities, including occipital exostoses, widening and bowing of multiple long bones at tendinous and ligamentous insertion sites, and deformed clavicles. Major clinical complications include genitourinary problems, chronic diarrhea with malabsorption, and/or syncopal episodes. Laboratory tests suggest that this variant may represent the true lysyl-oxidase-deficient form of Ehlers-Danlos syndrome.
In this sequential study joint scintigraphy was compared with clinical and röntgenological evaluation in 19 patients with rheumatoid arthritis. Scintigraphy sometimes preceded clinical and radiological abnormalities and scan results were independent of radiological findings showing no differences when large and small joints were compared. Scan findings in 2 patients with arthralgias only were negative, suggesting that arthritis was unlikely.