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)

The authors describe a case of an adult patient having Gaucher's disease, who had hepatosplenomegaly and pancytopenia. The diagnosis was established by the low level of leukocyte beta-glucosidase and by histology of bone marrow, liver and spleen. The patient had no bone pain, but MRI described characteristic lesions of the femur. Serum acid phosphatase was characteristically elevated. The hypersplenism was reduced after splenectomy. The patient has a daughter with central nervous system dysfunction. Her chromosome examination is normal, but she has lower leukocyte beta-glucosidase activity too. She may have a Gaucher's disease of type II, the acute neuropathic form.
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PMID:[A case of adult Gaucher disease]. 140 99

The early diagnosis of acute hematogenous osteomyelitis depends on a high index of suspicion whenever the physician is confronted with a child experiencing acute onset of bone pain or limited motion of an extremity, regardless of the presence or absence of signs of infection such as fever, local tenderness, redness, swelling or heat (Table 4). Early diagnosis is aided greatly by the use of plain radiography to exclude other conditions and radionuclide bone scans to detect evidence of inflammation at the site of bone pain. "High-tech" procedures such as CAT and MRI should be reserved for situations in which the diagnosis cannot be made by the simpler methods, such as osteomyelitis of the spine or pelvis, or when the anatomic detail provided by MRI is required for planning of surgery. It is very unlikely that CAT or MRI will every be required in the majority of cases of uncomplicated osteomyelitis in children.
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PMID:Diagnosis of osteomyelitis. 201 1

A 66-yr-old female was admitted with a 3-yr history of generalized bone pain and nasal obstruction. CT and MRI of the head revealed a large nasal mass. A whole-body bone scan revealed multifocal lesions of increased activity. Surgical removal of the nasal tumor revealed hemangiopericytoma. The patient improved clinically and a repeat bone scan 10 mo after surgery revealed markedly improved findings.
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PMID:Bone scan in tumor-induced osteomalacia. 783 Jan 24

For proper use of systemic GCS, a basic knowledge of the normal HPA axis, as well as knowledge of the pharmacology, clinical usage guidelines, and adverse reactions of these agents is imperative. Both short-term (acute) and long-term side effects should be well known by the physician. The pros and cons of oral and parenteral therapy for various disorders and in various situations should be recognized. For long-term therapy, an intermediate-acting agent such as prednisone in single, early morning doses is most commonly used to minimize suppression of the HPA axis. Alternate-morning doses produce even less suppression if the disease process will respond. A through patient history, including general medical history and medications the patient is taking, is important to anticipate any potential problems. Weight and blood pressure should be checked initially and every 1 to 3 months thereafter. Blood glucose, electrolytes, and lipid studies, including triglycerides, should be done approximately every 6 months. An ophthalmology examination should be performed every year, and stool examination for occult blood and chest radiography can be obtained as indicated. Bone density studies might be necessary in patients who are at high risk for osteoporosis. Specific acute situations may dictate other studies. The patient on long-term GCS should be kept as active as possible, as mild-to-moderate exercise helps prevent certain side effects, such as osteoporosis. The dose of oral GCS is best given with food to prevent gastrointestinal irritation, and agents to decrease gastric acidity might be needed in certain situations. Exposure to infections should be prevented, where possible, and treatment initiated at the first sign of systemic or cutaneous infection. Pain should be evaluated early, especially abdominal pain or bone pain; MRI is indicated if aseptic necrosis of bone is suspected. Both trauma and severe sun exposure should be avoided. Consultation with other specialists is strongly recommended when the situation dictates. Diet is one of the most important strategies to minimize side effects from long-term GCS therapy. Vegetable protein should be increased in the diet, and fats and carbohydrates limited. Adequate calcium is imperative, and calcium supplementation is recommended for high-risk osteoporosis patients. Small amounts of vitamin D may be necessary to increase absorption of calcium. Restriction of sodium is also important, as is maintainance of dietary potassium. Supplemental potassium may be necessary in some patients, and a thiazide diuretic might be useful in patients with hypertension, edema, or osteoporosis. Vitamin C can be given to promote wound healing. A good doctor-patient relationship is important in managing the patient on long-term GCS. The patient must return for regular visits and be encouraged to promptly report any adverse reactions to the physician. If these criteria are maintained and the strategies noted previously are followed, problems from long-term therapy with GCS will be minimized.
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PMID:Minimizing complications from systemic glucocorticosteroid use. 878 96

Tuberculous osteomyelitis which does not involve a joint is uncommon and may fail to be diagnosed by an orthopaedic surgeon. We treated 28 lesions of tuberculous osteomyelitis in 25 patients between 1988 and 1995. The duration of symptoms was from two to 39 months, and most of our patients had been treated initially with non-steroidal anti-inflammatory drugs which failed to provide relief. Bone pain which does not promptly respond to analgesic medication is often due to infection or neoplasia. In the early stages, when plain radiographs are normal, MRI or CT may help to localise lesions. On plain radiographs, more advanced lesions may mimic chronic pyogenic osteomyelitis, Brodie's abscess, tumours or granulomatous lesions. Biopsy is mandatory to confirm the diagnosis, and antituberculous drugs are the mainstay of treatment. When operative findings at biopsy have the features of skeletal tuberculosis curettage of the affected bone may promote earlier healing.
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PMID:Tuberculous osteomyelitis. 925 Jul 39

Joint destruction caused by aseptic osteonecroses (AONs) is a severe complication in acute lymphoblastic leukemia (ALL). Here, factors were determined that influence the occurrence and clinical course of AON in ALL patients. Clinical data of 121 patients were correlated with the occurrence of AON. Magnetic resonance imaging was performed in patients with bone pain. Areas of AONs were correlated with the clinical course of AON. Ten patients presented with clinical symptoms of AON and 9 of 10 patients were graded as high-risk ALL compared with 46 of 111 patients without AON (chi 2, P < .05). In 10 ALL patients 66 AONs were identified by MRI. In some patients up to 14 different AON sites were observed. The courses of AONs varied in individual patients, suggesting that necrosis-specific factors might be responsible. A size above 900 mm2 was significantly associated with progressive AON (P < .01). The more intensive treatment regimen in high-risk ALL patients might contribute to the development of AON. The clinical course of AON, however, is determined by necrosis-specific factors such as a large size. These data could help in developing therapeutic strategies for the prevention of progressive AON.
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PMID:Aseptic osteonecrosis in children with acute lymphoblastic leukemia. 965 31

A 33-year old man with acquired immunodeficiency syndrome was admitted to Severance hospital following 1 year of diarrhea and 2 to 3 months of low sternal pain. The patient had progressive generalized lymphadenopathy for the previous 3 years. Whole body bone scan for evaluation of bone pain showed multiple abnormal hot uptakes at the low sternal body and T8 and T10 vertebra. Chest CT showed multifocal cortical erosion of the bone with soft tissue mass at the low sternal body and spine MRI showed multiple low-signal density in T1WI and high-signal density in T2WI at the T8 and T10 vertebral body. Biopsy was performed at the sternochondral junction and it showed high-grade malignant lymphoma of the large cell immunoblastic type. Immunostaining showed positive for the B-cell markers (CD79a and L26) and negative for the T-cell marker (UCHL1). Radiotherapy of 3,000 cGy was delivered to the sternum and vertebra. Since then, systemic chemotherapy with m-BACOD regimen (except dexamethasone) and anti-retroviral therapy with a combination of 3 drugs (didanosine, lamivudine, indinavir) has been performed. This is the first case report of primary bone lymphoma associated with acquired immunodeficiency syndrome in Korea.
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PMID:A case of primary bone lymphoma associated with acquired immunodeficiency syndrome. 975 6

A 51 year old woman with breast cancer four years ago was studied by bone scintigraphy. At the moment of the study she had bone pain. The bone scintigraphy showed uptake in humerus and femur and no more uptake in other zones of axial skeleton. Then, we made others radiological procedures (X-Ray and MRI) with the aim to make an accurate diagnosis. Then a diagnosis of benign bone tumours; enchondroma was made. It means something obvious but very interesting. In case of doubt we ever have to compare the bone scintigraphy with other diagnostic. examinations.
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PMID:[Nonmetastatic accumulations in bone radionuclide scans in a patient with breast neoplasm]. 981 11

An unusual case of tuberculosis of the lower end of the fibula in a young patient is reported. The patient presented with symptoms of pain and swelling over the outer aspect of the right ankle with full range of painless ankle movements. The plain radiographs of the ankle were normal but MRI scan showed increased signals within the lower end of the fibula on T2-weighted images. The histology of the lesion showed only a few Langhans giant cells and culture failed to grow any organism. Polymerase chain reaction analysis of the biopsy specimen, however, showed growth of Mycobacterium tuberculosis. The patient responded to antitubercular treatment with complete resolution of symptoms. Polymerase chain reaction analysis should be considered in atypical presentations with bone pain to rule out an occult infectious pathology.
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PMID:Use of polymerase chain reaction in diagnosis of occult tuberculosis of the fibula. 1182 70

In Gaucher disease, enzyme replacement therapy usually reduces liver and spleen volumes and improves haematological abnormalities within 1 year. In contrast, skeletal manifestations of Gaucher disease are thought to respond more slowly. For example, decreased bone marrow glycolipid infiltration and increased bone mineral density have been reported to take up to 3-4 years of treatment. In this report, we present recent studies using T1- and T2-weighted MRI and quantitative chemical shift imaging that demonstrate decreases in abnormal glucocerebroside infiltration and increases in normal fat content of bone marrow within the first year of treatment. There was no obvious relationship between age, gender, splenectomy status or genotype and the response of bone marrow to therapy. Although the dose of enzyme replacement therapy may be related to bone marrow response, no significant relationship was demonstrated in this report. Long-term enzyme replacement therapy induces continued degradation of Gaucher cell deposits, reconversion of fat marrow and increased bone mineral density. This treatment is also associated with improved or non-progressive bone symptoms and functional status in most adult patients, and it prevents the new occurrence of bone pain and bone crisis in nearly all patients. The development of more sensitive, quantitative imaging methods will help to evaluate disease severity better and to assess the response to therapy.
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PMID:Response of Gaucher bone disease to enzyme replacement therapy. 1203 30


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