The American journal of the medical sciences
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Review Case Reports
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Gaucher disease, the most common form of lysosomal storage disease, is the result of autosomal recessive inheritance of a lysosomal enzyme glucocerebrosidase deficiency, which produces defective hydrolysis of glucosylceramide that accumulates in reticuloendothelial (tissue macrophage) cells. The current review focuses on Type 1 (the nonneuronopathic) or adult Gaucher disease and defines the clinical manifestations (splenomegaly, hepatomegaly, bony lesions, and clinical metabolic dysfunction) in relationship to the known enzymatic defect. The clinical diversity and variability in symptoms and signs, the age at onset of the clinical manifestations and their rate of progression, and the heterogeneity of the organs involved are reviewed. ⋯ Enzyme assays now provide an excellent method for diagnosis. Effective enzyme replacement therapy emphasizes the value of early diagnosis and has altered the costs and potential risks of older therapeutic indications for splenectomy or cytokine therapy. Enzyme efficacy raises questions about the specific indications for replacement treatment and the most desirable rate and duration of enzyme delivery.
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Described is an elderly woman who developed gastrointestinal bleeding probably potentiated by the interaction of fluconazole with warfarin. Because varied clinical uses are being found for fluconazole, clinicians should be aware of this potential interaction.
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Case Reports
Case report: high-dose intravenous immunoglobulin as therapy for thrombotic thrombocytopenic purpura.
Thrombotic thrombocytopenic purpura is a clinical syndrome defined by the pentad of thrombocytopenia, microangiopathic hemolytic anemia, fever, and renal and neurologic abnormalities. The pathogenesis of this syndrome remains enigmatic, though appropriate management usually involves plasma administration. The authors report on an alternative therapy, high-dose intravenous immunoglobulin, used in the patient after the failure of plasmapheresis. The implications and potential applications of this therapy are discussed.
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Primary hypertension is almost twice as prevalent among American blacks as among whites. Causes of this increased prevalence of hypertension remain elusive. ⋯ Microneurography allows direct measurement of peripheral sympathetic nervous system activity. Application of this technique will allow comparison of sympathetic nervous system activity in black and white subjects and provide additional insight into the role of the sympathetic nervous system in the development of hypertension in blacks.
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Case Reports
Case report: acute focal bacterial pyelonephritis (lobar nephronia)--presentation as a palpable abdominal mass.
Acute lobar nephronia, or focal pyelonephritis, is an uncommon form of renal infection with a distinct computerized tomographic appearance. A patient is presented with lobar nephronia characterized by fever, flank pain, urosepsis, and painful abdominal mass. Differentiating this condition from abscess or other renal mass is important, because the treatment of lobar nephronia is nonsurgical. The infection responds to antibiotic therapy.