Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied the clinical features of 11 patients with adult T-cell lymphoma associated with the human T-cell lymphoma virus. The patients were predominantly young, black, and born in the southeastern United States. They had an aggressive course, with the rapid onset of disseminated skin lesions or symptoms related to hypercalcemia and other metabolic disturbances, or both. Common findings included rapid enlargement of peripheral, hilar, and retroperitoneal lymph nodes, with sparing of the mediastinum; invasion of the central nervous system, lungs, or gastrointestinal tract; and opportunistic infections. A paraneoplastic syndrome characterized by increased bone turnover, abnormal bone scintigraphy, and hypercalcemia was present in all patients. Intensive combination chemotherapy produced prompt complete clinical remissions, which were generally of short duration. Similar features have been described in patients in Japan and the West Indies who had adult T-cell lymphoma, which is also associated with the human T-cell lymphoma virus. This syndrome should be suspected in patients presenting with the acute onset of widespread T-cell lymphoma in association with metabolic bone disease and hypercalcemia. The presence of the syndrome can be confirmed by appropriate serologic and virologic studies.
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PMID:Clinical course of retrovirus-associated adult T-cell lymphoma in the United States. 660 43

Two adults who had T-cell lymphoma-leukemia and recurrent hypercalcemia in the absence of radiographic evidence of bone disease are described. Bone histopathology showed marked osteoclastic activation. Bone resorbing factors, including both prostaglandin E and a material produced in the presence of a prostaglandin synthetase inhibitor, were detected in the in-vitro culture fluids of malignant cells of one of the patients. Serum levels of parathyroid hormone were not elevated. These findings suggest that hypercalcemia resulted from in-vitro osteoclast activation by tumor cell product(s), one of which may be similar, if not identical, to the lymphocyte product osteoclast-activating factor. Two other patients having T-cell lymphoma-leukemia and hypercalcemia have been identified in the literature: the malignant cells of one of these patients also released a calcium-mobilizing factor in vitro.
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PMID:Hypercalcemia associated with T-cell lymphoma-leukemia. 697 May 19

Celiac disease is more prevalent than it was previously thought to be, and screening of selected population groups may reveal many new cases. Tissue transglutaminase appears to have a significant role in the degradation of gliadin and antigen production. Specific gliadin epitopes have been defined using T-cell responses. Bone disease is a significant problem for patients with celiac disease but management guidelines are being developed. Refractory sprue (nonresponsive celiac disease) appears to be a manifestation of enteropathy-associated T-cell lymphoma in most cases.
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PMID:Celiac disease. 1122 66

Coeliac disease is an immune-mediated disorder resulting in nutrient malabsorption now thought to have a prevalence of between 1:100 and 1:200 in the UK population. Symptoms can include diarrhoea, steatorrhoea, abdominal bloating, cramps, flatulence, weight loss, weakness and fatigue. In addition to the morbidity associated with presenting symptoms, patients are also at increased risk of metabolic bone disease, enteropathy-associated T-cell lymphoma and other malignancies (gastric, oesophageal, bladder, breast, brain). There appears to be a strong genetic component to this disease. This article provides a short review of the historical, clinical and genetic aspects of this disease and highlights several findings from recent structural and molecular immunology studies. A model of the pathogenesis is proposed where the contributions of innate and adaptive immune systems are delineated and the essential dual roles of gliadin (from ingested gluten) in the initiation and maintenance of this disease are summarised. Finally, potential future therapeutic options based on this new understanding are discussed.
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PMID:The molecular basis of coeliac disease. 1682 Sep 91

Primary bone lymphoma (PBL) is rare bone disease that accounts for very small number of all primary bone tumors. Among the described sites of PBLs, the patella is an extremely rare example. To date, only a few cases of PBL affecting the patella have been reported. Clinically, these tumors have very similar presentation of pain, decreased range of motion and swelling and, sometimes, pathologic fractures. On radiographs, skeletal lymphoma commonly manifests as osteolytic lesions with ill-defined margins affecting the metaphysis of axial long bones. We present a rare case of patellar adult T-cell lymphoma/leukemia in a 58-year-old female who presented with left-knee pain and swelling. Computed tomography and magnetic resonance imaging revealed diffuse marrow replacement by a lesion with aggressive features. PET scan demonstrated neoplastic range hypermetabolic FDG uptake within this lesion. Ultrasound-guided biopsy was consistent with PBL.
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PMID:Primary bone lymphoma of patella: A case report and review of literature. 3173 36

Celiac disease is a lifelong autoimmune disorder that occurs in genetically predisposed people when consuming gluten. Its prevalence is around 1% of the population with about twice higher proportion of women. Celiac disease is one of the most common causes of malabsorption, however, its manifestations can be quite diverse - from completely asymptomatic to fully developed malabsorption syndrome. Extraintestinal manifestations are a common finding in adults. The gold standard of diagnosis is the serological detection of specific antibodies (the serum tissue transglutaminase IgA antibodies) in combination with a typical histological finding from a duodenal biopsy. Causal treatment is a lifelong gluten-free diet. Strict adherence to gluten-free diet will reduce the risk of serious complications (intestinal T-cell lymphoma). In the following case report we present a case of a 58-year-old patient, who have been diagnosed with celiac disease at this age based on non-classical symptoms. Specifically, these were multiple pathological fractures from metabolic bone disease due to malabsorption of calcium and vitamin D and subsequent secondary hyperparathyroidism.
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PMID:Celiac disease in adults. 3294 92