Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0151825 (bone pain)
3,118 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 32-year-old woman undergoing hemodialysis for 12 years was referred because of systemic bone pain and pathological fracture of ribs and right tibia. Her serum ferritin was 4800 ng/ml, liver CT level was extremely high and skeletal scintigram by 99 m-Tc-MDP revealed high activity of soft tissue. Her serum aluminum was elevated more than 20 micrograms/dl by deferoxamine infusion test. Osteomalacia and positive staining of both aluminum and iron was observed by bone biopsy examination. After treatment with deferoxamine as a chelating agent of iron and aluminum, bone pain was relieved and second bone biopsy specimen revealed improvement of osteomalacia. But serum aluminum was slightly reduced and serum ferritin level and liver CT level were unchanged.
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PMID:[A case of iron and aluminum related osteomalacia in a long-term hemodialysis patient]. 187 64

The authors report a case, perhaps the first, of immunoglobulin D (IgD) benign monoclonal gammopathy. The patient, a 48-year-old black woman, initially had a 500 mg/dl IgD-lambda M-spike, hypercalcemia, and anemia. There was no bone pain, lytic bone lesions, or evidence of renal failure. The bone marrow showed 2.8% plasma cells with a diffuse (not nodular) IgD plasmacytosis and strong lambda predominance. Only trace amounts of free lambda light chains could be demonstrated by immunoelectrophoresis in serum and concentrated urine. The anemia responded quickly to iron therapy. Chemotherapy was not initiated. Over the 6+ years of follow-up, the patient has had no progression of clinical disease attributable to her IgD monoclonal gammopathy. The IgD M-spike has steadily decreased.
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PMID:Immunoglobulin D benign monoclonal gammopathy. A case report. 190 73

Transverse fractures of the spinous process of the 7th cervical vertebra were noted in 2 patients and of the 1st thoracic vertebra in 1 patient on maintenance hemodialysis. Two patients with aluminum (Al)- and/or iron-related bone disease complained of bone pain, relieved by deferoxamine therapy. In all three cases, the bone fractures had occurred suddenly while the patients were going about their daily work. These observations indicate that Al- or iron-related bone disease with secondary hyperparathyroidism can induce bone fracture by only slight stress in patients maintained on hemodialysis.
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PMID:Transverse fractures of the spinous process of the 7th cervical vertebra in RDT patients: an Al related disease? 358 34

A 32 year old woman with severe aplastic anaemia required frequent transfusions and consequently developed hyperferrioxaemia (54 microMol/l) and hyperferritinaemia (1,700 ng/ml). For the treatment of transfusion siderosis she was given 18 high dose courses each comprising 35 g of desferrioxamine. Because of pre-existing thrombocytopenia (platelet count 5 X 10(9)/l) the iron chelating agent was given by continuous intravenous infusion over 3 1/2 days. High dose desferrioxamine had to be abandoned because of severe bone pain. The desferrioxamine infusions achieved a negative iron balance, iron loss after each infusion being 100 to 200 mg in the urine and 400 mg in the faeces. Serum iron and ferritin concentrations fell almost to normal. This report shows that faecal iron excretion must be taken into account in assessing the balance of iron input and output during desferrioxamine treatment.
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PMID:High dosage desferrioxamine therapy in a female patient with acquired aplastic anaemia and transfusion siderosis. 363 32

Gluten-induced enteropathy or coeliac disease is a condition characterized by malabsorption and a variety of clinical manifestations. In adults, coeliac disease may be discovered while investigating iron-deficient anemia, bone pain or unexplained weight loss. We have recently diagnosed a case of gluten-induced enteropathy in an elderly woman whose symptoms were unusual. The patient had episodes of laryngospasm secondary to severe hypocalcemia and hypomagnesemia. The malabsorption syndrome was responsible for low levels of vitamin D, causing the electrolytic imbalance. Laryngospasm is a rare symptom of hypocalcemia and has not, to our knowledge, been described in the context of coeliac disease.
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PMID:[Laryngospasm: unusual manifestation of celiac disease]. 845 63

A 67-year-old woman has a 20-year history of recurrent abdominal pain, diarrhea and diffuse bone pain. During the course of numerous hospitalisations the diagnoses "iron deficiency anemia", "iron absorption disorder", "osteoporosis" and "hyperparathyroidism" had been made. Despite treatment with vitamin D3, calcium, fluorides and iron, the patient's condition deteriorated to such a degree that she became in need of constant care. After 20 years of illness, nontropical sprue (celiac disease) with secondary intestinal osteopathy was identified. High-dose parenteral treatment with vitamin D3, oral calcium supplementation and a gluten-free diet resulted in an improvement of the patient's condition within three months, and the patient can now largely look after herself again.
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PMID:[Severe osteomalacia in endemic sprue. An important differential diagnosis in osteoporosis]. 957 65

Hydroxyurea increases fetal haemoglobin in many patients with sickle cell anaemia, but its effectiveness in thalassaemia appears to be less consistent. We describe the response to hydroxyurea in an adult male with homozygous beta thalassaemia, symptomatic paraspinal extramedullary haemopoiesis, bone pain, and progressive tissue iron loading. Prior to therapy with hydroxyurea the circulating haemoglobin (Hb) concentration was 7.0 g/dl and absolute fetal haemoglobin concentration was 5.0 g/dl. Administration of sodium phenylbutyrate had induced no increase in either parameter. Subsequent therapy with hydroxyurea was associated with increases in total haemoglobin to 9.0 g/dl, and in fetal haemoglobin to 7.6 g/dl. Ineffective erythropoiesis was reduced and extramedullary haemopoiesis regressed during therapy.
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PMID:Regression of extramedullary haemopoiesis and augmentation of fetal haemoglobin concentration during hydroxyurea therapy in beta thalassaemia. 963 80

We report a carcinoma that is, to the best of our knowledge, the first case of a mixed mucus-secreting and oncocytic carcinoma of the thyroid. We also describe the histochemical, immunohistochemical, and ultrastructural features of this tumor. A 59-year-old man complaining of severe bone pain and weight loss underwent clinical and radiologic investigations. The studies revealed a nodule in the left thyroid lobe that was "cold" by (131)I scintiscan and multiple lytic lesions of the skeleton that showed increased uptake by (99m)Tc-Sestamibi scintiscan. Left hemithyroidectomy was performed and the surgical specimen contained a well-circumscribed nodule of 3 cm in the greatest diameter. Light microscopy showed an oncocytic carcinoma with an area of glandular and papillary proliferation of mucin-producing cells. A double histochemical approach (Alcian blue-periodic acid-Schiff and Alcian blue-high-iron diamine) combined with ultrastructural investigation confirmed the presence of true mucus, ruling out the presence of breakdown products of thyroglobulin. Ultrastructural and immunohistochemical studies, together with clinical findings, excluded a possible metastatic origin of the mucin-producing component.
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PMID:Mixed mucus-secreting and oncocytic carcinoma of the thyroid: pathologic, histochemical, immunohistochemical, and ultrastructural study of a case. 1103 96

A 43-year-old white man presented with an 8-month history of redness and swelling on the back of the neck. He also noted a decrease in range of motion of his upper body. There was no improvement with a 4-week course of topical corticosteroids. Review of systems was negative for polydipsia, polyuria, polyphagia, and bone pain. His medical history included depression, gastroesophageal reflux disease, and microdiscectomy. His medications included sertraline and omeprazole. Physical examination revealed a 20-cm erythematous, indurated plaque on the posterior part of the upper back and neck (Figure 1). A lack of skin wrinkling was noted with lateral pressure. Biopsy revealed a periadnexal and mild interface dermatitis with an increase in connective tissue mucin as demonstrated with colloidal iron (Figures 2A and 2B). Serum protein electrophoresis, hemoglobin A1C, and antinuclear antibody titer were within normal limits. A diagnosis of tumid lupus erythematosus mimicking scleredema was made. Hydroxychloroquine therapy was started at a dose of 200 mg and, at 2 months' follow-up, the patient's symptoms and appearance were improved.
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PMID:Tumid lupus erythematosus: an unusual scleredema-like presentation. 1660 43

Adults with beta thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD, fractures, and bone pain in all thalassemia syndromes in childhood, adolescence, and adulthood, associations of BMD with fractures and bone pain, and etiology of bone disease in thalassemia. Patients of all thalassemia syndromes in the Thalassemia Clinical Research Network, > or =6 yr of age, with no preexisting medical condition affecting bone mass or requiring steroids, participated. We measured spine and femur BMD and whole body BMC by DXA and assessed vertebral abnormalities by morphometric X-ray absorptiometry (MXA). Medical history by interview and review of medical records, physical examinations, and blood and urine collections were performed. Three hundred sixty-one subjects, 49% male, with a mean age of 23.2 yr (range, 6.1-75 yr), were studied. Spine and femur BMD Z-scores < -2 occurred in 46% and 25% of participants, respectively. Greater age, lower weight, hypogonadism, and increased bone turnover were strong independent predictors of low bone mass regardless of thalassemia syndrome. Peak bone mass was suboptimal. Thirty-six percent of patients had a history of fractures, and 34% reported bone pain. BMD was negatively associated with fractures but not with bone pain. Nine percent of participants had uniformly decreased height of several vertebrae by MXA, which was associated with the use of iron chelator deferoxamine before 6 yr of age. In patients with thalassemia, low BMD and fractures occur frequently and independently of the particular syndrome. Peak bone mass is suboptimal. Low BMD is associated with hypogonadism, increased bone turnover, and an increased risk for fractures.
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PMID:Bone disease in thalassemia: a frequent and still unresolved problem. 1850 76


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