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)

Sequential fatigue fractures of the fourth, second, and third metatarsals in the same foot are reported for a military aviator in the absence of abnormal stresses or underlying bone disease. The likely etiological factor is altered foot biomechanics, as identified in pedobarographic assessment. We have reviewed the literature regarding multiple metatarsal stress fractures.
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PMID:Sequential metatarsal fatigue fractures secondary to abnormal foot biomechanics. 1667 41

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

Patients with chronic renal failure (CRF) often have signs and symptoms related to fluid and electrolyte disturbances, anemia, malnutrition, bone disease, and gastrointestinal problems. Vascular and neurologic impairment in particular remain an important source of morbidity and mortality in this vulnerable patient population. Sagliker syndrome is a novel syndrome that was recently described in 2004 in patients with CRF and severe and late secondary hyperparathyroidism who suffered from severe skull and facial bone changes, particularly from uglifying human face appearances and neuropsychiatric disorders. The goal of this study was to assess neuropsychiatric manifestations occurring in CRF patients with Sagliker syndrome. Four female and 8 male patients with CRF on regular dialysis at the hemodialysis units of the Internal Medicine Departments around southern Turkey participated in the study. All patients underwent a clinical neurologic examination performed by the same neurologist. Neuropsychiatric signs and symptoms were found in all cases. The results showed that the most frequent neurologic manifestations in CRF patients with Sagliker syndrome were headache, polyneuropathy, cranial neuropathy, fatigue, and psychiatric disorders.
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PMID:Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. 1682 26

Bone disease is an important feature of multiple myeloma, and hypercalcaemia is a frequent complication of this disease. We examined the association between serum calcium and quality of life (QOL) scores of 686 multiple myeloma patients at the time of diagnosis. Data from two Nordic studies using the EORTC QLQ-C30 questionnaire were analysed by means of linear regression analysis and a curve fitting program. Serum calcium was independently related to appetite loss, nausea/vomiting and physical functioning (P < 0.001) and to cognitive functioning (P = 0.001), i.e. scores reflecting symptoms that are well known in non-malignant hypercalcaemia. In addition, we found a highly significant independent relationship between serum calcium and the scores for fatigue and pain (P < 0.001). Serum calcium appeared to be as strong a predictor for fatigue as the concentration of haemoglobin. A cubic model (y = a + bx3) fitted the data slightly better than the simple linear model (y = a + bx) and suggested worsening QOL scores at levels of serum calcium above 2.5-3.0 mmol/L. Hypercalcaemia in patients with multiple myeloma seems to be associated with the same symptoms as in non-malignant hypercalcaemia. In addition, an increased level of serum calcium may aggravate the pain and fatigue caused by the skeletal disease itself.
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PMID:Serum calcium is an independent predictor of quality of life in multiple myeloma. 1703 19

In primary hyperparathyroidism (PHPT), excess PTH secretion by adenomatous or hyperplastic parathyroid glands leads to elevated serum [Ca(2+)]. Patients present complex symptoms of muscular fatigue, various neuropsychiatric, neuromuscular, and cardiovascular manifestations, and, in advanced disease, kidney stones and metabolic bone disease. Our objective was to characterize changes in muscle and hematopoietic gene expression in patients with reversible mild PHPT after parathyroidectomy and possibly link molecular pathology to symptoms. Global mRNA profiling using Affymetrix gene chips was carried out in biopsies obtained before and 1 yr after parathyroidectomy in seven patients discovered by routine blood [Ca(2+)] screening. The tissue distribution of PTH receptor (PTHR1 and PTHR2) mRNAs were quantitated using real-time RT-PCR in unrelated persons to define PTH target tissues. Of about 10,000 expressed genes, 175 muscle, 169 hematological, and 99 bone-associated mRNAs were affected. Notably, the major part of muscle-related mRNAs was increased whereas hematological mRNAs were predominantly decreased during disease. Functional and molecular network analysis demonstrated major alterations of several tissue characteristic groups of mRNAs as well as those belonging to common cell signaling and major metabolic pathways. PTHR1 and PTHR2 mRNAs were more abundantly expressed in muscle and brain than in hematopoietic cells. We suggest that sustained stimulation of PTH receptors present in brain, muscle, and hematopoietic cells have to be considered as one independent, important cause of molecular disease in PHPT leading to profound alterations in gene expression that may help explain symptoms like muscle fatigue, cardiovascular pathology, and precipitation of psychiatric illness.
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PMID:Abnormal muscle and hematopoietic gene expression may be important for clinical morbidity in primary hyperparathyroidism. 1722 61

Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease characterized by inflammation and fibrosis of the bile ducts, resulting in end-stage liver disease and reduced life expectancy. PSC primarily affects young and middle-aged men, often in association with underlying inflammatory bowel disease. The etiology of PSC includes immune-mediated components and elements of undefined nature. A cholestatic picture of liver biochemistries with elevations in serum alkaline phosphatase, nonspecific autoantibodies such as perinuclear antineutrophilic antibody, antinuclear antibodies and smooth muscle antibodies, and diffuse multifocal biliary strictures, resulting in a 'beaded' appearance on radiographic studies, are the hallmarks of the disease. No effective medical therapy is currently available, although clinical studies are in progress. Ursodeoxycholic acid at high doses (28 mg/kg/day to 30 mg/kg/day) is the most promising agent but is unproven so far. Liver transplantation is currently the only life-extending therapy for patients with end-stage disease, although recurrent disease can be observed in the transplanted liver. The multiple complications of PSC include pruritus, fatigue, vitamin deficiencies, metabolic bone disease, peristomal varices, bacterial cholangitis, dominant biliary strictures, gallbladder stones and polyps, and malignancy, particularly cholangiocarcinoma, which is the most lethal complication of PSC.
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PMID:Primary sclerosing cholangitis. 1870 47

A 65 year old man presented with a two-month history of low back pain and fatigue and urinary symptoms over the preceding month. He was found to have had a hepatomegaly & a large nodular prostate on rectal examination. Investigations revealed a normal full blood count and renal profile, raised alkaline phosphatase and Prostate Specific Antigen (PSA), and low serum Calcium. A bone scan was performed which revealed widespread bony metastases in the axial and appendicular skeleton resulting in a 'superscan', consistent with prostatic metastases. We recommend that calcium levels be checked in all patients with prostate cancer and metastatic bone disease as this may have a bearing on their symptoms and the use of bisphosphonate therapy.
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PMID:Hypocalcemia with bony metastases in prostate cancer. 1902 9

Biliary stasis can occur in many different diseases. Pruritus, metabolic bone disease, deficiencies of fat-soluble vitamins, steatorrhea, hyperlipidemia and fatigue represent the major extra-hepatic manifestations of cholestatic liver disease that considerably affect the patient's quality of life. The present article reviews pathogenetic and clinical aspects of and current therapeutic approaches to extra-hepatic manifestations of cholestatic liver disease.
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PMID:[Under-evaluated extrahepatic manifestations of cholestasis]. 1929 75

Tenofovir is widely used as first-line treatment of HIV infection, although its use is sometimes complicated by a reversible proximal renal tubulopathy.We report the case of a 45-year-old woman with chronic HIV infection and personality disorder, who after 12 months of tenofovir, complained of fatigue, diffuse bone pain and gait disturbances. The elevated level of alkaline phosphatase, hypophosphatemia and inappropriate phosphaturia suggested the diagnosis of hypophosphatemic osteomalacia secondary to proximal renal tubulopathy. A dual-energy x-ray absorptiometry showed a bone mineral density below the expected range for age (lumbar spine Z-score -3.3, femoral neck Z-score -2.1). A whole body (99m)Tc-methylene diphosphonate bone scan showed multiple areas of increased focal activity in the lumbar and thoracic spine and in sacroiliac and hip joints consistent with pseudofractures. Two months after tenofovir discontinuation and administration of vitamin D and phosphate, osteomalacia-related symptoms disappeared. Eleven months later, bone and mineral metabolism data were normal and bone scintigraphy did not show any pathological findings.This report highlights the importance of considering the diagnosis of osteomalacia in patients treated with tenofovir and emphasizes the need for monitoring alkaline phosphatase, blood and urinary phosphate and creatinine, especially in patients with risk factors for bone disease.
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PMID:Hypophosphatemic Osteomalacia Associated with Tenofovir: a Multidisciplinary Approach is Required. 2270 40

A 55-year-old man without prior medical problems presented to the emergency room with a 2-month history of progressive fatigue. Initial workup showed a hemoglobin level of 9.0 g/dL and an increased total protein level of 12.6 g/dL. Further testing revealed a normal serum calcium and creatinine, an IgG kappa paraprotein of 5.4 g/dL, and a Bence Jones proteinuria of 450 mg of kappa light chain in 24 hours. The bone marrow showed 60% plasma cells with normal cytogenetics and t(4;14), but no other associated genetic abnormalities by FISH. Skeletal survey and MRI of the spine were negative for myeloma bone disease. The patient's oncologist recently began therapy with lenalidomide, bortezomib, and dexamethasone and recommended the initiation of zoledronic acid monthly. The patient questions the benefit of this drug because he has no bone disease.
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PMID:What is the evidence for the use of bisphosphonate therapy in newly diagnosed multiple myeloma patients lacking bone disease? 2323 3


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