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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The classic bone disease of primary hyperparathyroidism, osteitis fibrosa cystica, was characterized by subperiosteal bone resorption, osteopenia, and "brown tumors." Since the description of this skeletal disorder, the clinical profile of primary hyperparathyroidism has evolved markedly. The disease today is often characterized by no more than asymptomatic hypercalcemia, and severe bone disease is a distinct rarity. However, as we have endeavored to show in this article, newer and more sensitive techniques show significant evidence of the effect of excess parathyroid hormone on the skeleton. Bone density as measured by photon absorptiometry and bone histomorphometry show a deficit of cortical bone and a preservation or increase in cancellous bone elements in mild primary hyperparathyroidism with no clinical evidence of skeletal disease. Important questions exist as to the therapeutic implications of these data. Does the presence of parathyroid hormone effect on sophisticated testing portend the development of clinical bone disease? Should these data be used as a rationale for surgical intervention in patients who might otherwise be followed conservatively with mild primary hyperparathyroidism? The answers to these questions must await further data collection and study.
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PMID:Bone disease in primary hyperparathyroidism. 219 67

Radionuclide imaging with Tc-99m diphosphonates is not an effective method for detecting or ruling out most osteoporotic diseases including senile osteoporosis or accelerated postmenopausal osteoporosis, and the slow loss of bone tissue generally remains undetected by this modality. Nonetheless, it frequently surpasses or supplements radiographic findings in evaluating the focal complications of metabolic bone disease, including fractures, microfractures, stress fractures, vertebral compressions, Milkman-Looser zones, aseptic necrosis, and acute infarction. In contrast to its secondary role in osteoporosis, bone imaging is of prime importance in investigating hypercalcemia, because the major cause of this abnormality is skeletal metastatic malignancy. In defective bone mineralization due to hyperparathyroidism or osteomalacia, a general increase in diphosphonate skeletal uptake is detected more frequently than radiographic abnormalities. However, normal skeletal images do not rule out metabolic bone disease. Biochemical testing is more reliable in detecting primary hyperparathyroidism. On the other hand, in renal osteodystrophy, biochemical abnormalities are variable and bone imaging is helpful in assessing the severity of skeletal involvement, but not its etiology. Many methods of quantitating the kinetics of Tc-99m diphosphonates have been explored, such as plasma clearance, bone-to-soft-tissue ratios, 24-hour total body retention and 24-hour urinary excretion. None of these have been widely accepted. The value of bone imaging is established in other systemic diseases, most notably in Paget's disease, hypertrophic pulmonary osteoarthropathy, sickle cell disease, fibrous dysplasia, and sympathetic dystrophy.
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PMID:Radionuclide imaging in metabolic and systemic skeletal diseases. 331 47

99Tcm-methylene diphosphonate (MDP) global skeletal uptake (4 h GSU) was determined by quantitative measurement of activity on bone scan images 4 h after injection in whole skeleton regions of interest (ROI) in 16 normal subjects, in five patients with hypertrophic pulmonary osteoarthropathy (HPO) and in 12 with Paget's disease. Values were correlated with those of whole body retention (24 h WBR), and serum bone gla protein (BGP), i.e. osteocalcin, alkaline phosphatase (AP) and type 1 procollagen (P1CP). They were 40% higher in HPO than in the normal controls, while in Paget's disease they increased more in polyostotic than in monostotic patients. A statistically significant difference was noted between 4 h GSU and 24 h WBR values in the two groups of patients compared with the controls. Of the bone metabolism markers, serum AP and P1CP were higher in the patients and positively correlated with their enhanced 4 h GSU values, whereas BGP was always within the normal range. This method may thus be regarded as a useful way of simultaneously determining bone 99Tcm-MDP uptake and altered bone turnover sites, especially in patients with systemic bone disease.
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PMID:99Tcm-MDP global skeletal uptake and markers of bone metabolism in patients with bone diseases. 835 16

Osteoporosis, by definition, is a generalized progressive reduction in both bone mineral and bone matrix which results in bone of normal composition but decreased mass. Functionally, osteoporotic bone is characterized by greater fragility and an increased propensity to fracture. It ranks as the most common metabolic bone disease and the most common skeletal disorder in the world. As such, it constitutes a major public health problem. Due to the extent of the disease, many have questioned its relevance to the maxilla and mandible and its possible relationship to periodontitis. The purpose of this paper is to review both osteoporosis and periodontitis and to present the research completed to date which has investigated the possible interrelationships between the two diseases.
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PMID:Osteoporosis and periodontal disease: is there a relationship? 947 63

Despite our best efforts, chronic wounds continue to confound us. Cases of patients with diabetes who have wounds are particularly perplexing and challenging to manage. The diagnosis and treatment of osteomyelitis in this population are of great interest to clinicians. Much of wound care is based on tradition and expert opinion. The current focus is on evidence-based practice. The purpose of this critical literature review is to determine the best evidence for diagnosing osteomyelitis as a basis for providing appropriate therapy to patients with diabetes and foot ulcers. Treatments vary greatly in terms of time, cost, and invasiveness depending on the accuracy of the diagnosis. The choice of oral versus parenteral antibiotics, the length of the treatment, and decisions about surgical intervention or aggressive debridement are based on correctly differentiating osteomyelitis from soft tissue infection, osteoarthropathy, and other conditions. It is difficult to differentiate soft tissue infection from bone infection in the patient with diabetes and neuropathic bone disease. The precision of available tools for diagnosing osteomyelitis in patients with diabetes and foot ulcers is widely debated. A gold standard as a reference test for clinical trials and treatment decisions has not been consistently used in published research studies. Without a reference test that is reliable and valid, the conclusions regarding effectiveness of diagnostic modalities and antibiotic treatment regimens are questionable.
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PMID:A critical review of the literature: part I: diagnosing osteomyelitis in patients with diabetes and foot ulcers. 1124 28

The term "renal osteodystrophy (ROD) " had been proposed by the two Chinese physicians as the general term for the bone complications associated with the chronic renal disease patients in 1943. The pathogenesis of original ROD has been recognized as the results of the active vitamin D deficiency and secondary hyperparathyroidism. Although recent advances of dialysis treatment have supported the uremic patients alive for more than 10 to 20 years. Such an unphysiological condition might deteriorate the original bone diseases, change the quality of them, or produce the new types of bone disease. Long-term administration of the drugs could also affect the bone disease. Then we have to reconsider the ROD classification. We are now meeting two types of ROD, one of them is the classical or original ROD, and the another one is the dialysis-related or drug-induced osteoarthropathy such as aluminium osteopathy, adynamic bone disease, amyloid-related osteoarthropathy as well as uncontrolled secondary hyperparathyroidism.
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PMID:[Spectrum of renal osteodystrophy]. 1577 86

In two independent and separate studies, we have shown that renal injury and chronic kidney disease (CKD) directly inhibit skeletal anabolism, and that stimulation of bone formation decreased the serum phosphate. In the first study, the serum Ca PO(4), parathyroid hormone (PTH), and calcitriol were maintained normal after renal ablation in mice, and even mild renal injury equivalent to stage 3 CKD decreased bone formation rates. More recently, these observations were rediscovered in low-density lipoprotein receptor null (LDLR-/-) mice fed high-fat/cholesterol diets, a model of the metabolic syndrome (hypertension, obesity, dyslipidemia and insulin resistance). We demonstrated that these mice have vascular calcification (VC) of both the intimal atherosclerotic type and medial calcification. We have also shown that VC is made worse by CKD and ameliorated by bone morphogenetic protein-7 (BMP-7). The finding that high-fat fed LDLR-/- animals with CKD had hyperphosphatemia which was prevented in BMP-7-treated animals lead us to examine the skeletons of these mice. It was found that significant reductions in bone formation rates were associated with high-fat feeding, and superimposing CKD resulted in the adynamic bone disorder (ABD), while VC was made worse. The effect of CKD to decrease skeletal anabolism (decreased bone formation rates and reduced number of bone modelling units) occurred despite secondary hyperparathyroidism. The BMP-7 treatment corrected the ABD and hyperphosphatemia, owing to BMP-7-driven stimulation of skeletal phosphate deposition reducing plasma phosphate and thereby removing a major stimulus to VC. A pathological link between abnormal bone mineralization and VC through the serum phosphorus was demonstrated by the partial effectiveness of directly reducing the serum phosphate by a phosphate binder that had no skeletal action. Thus, in the metabolic syndrome with CKD, a reduction in bone forming potential of osteogenic cells leads to the ABD producing hyperphosphatemia and VC, processes ameliorated by BMP-7, in part through increased bone formation and skeletal deposition of phosphate and in part through direct actions on vascular smooth muscle cells. We have demonstrated that the processes leading to vascular calcification begin with even mild levels of renal injury affecting the skeleton before demonstrable hyperphosphatemia and that they are preventable and treatable. Therefore, early intervention in the skeletal disorder associated with CKD is warranted and may affect mortality of the disease.
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PMID:Function and effect of bone morphogenetic protein-7 in kidney bone and the bone-vascular links in chronic kidney disease. 1688 97

A case of hypertrophic osteoarthropathy in association with malignant tonsil tumour is reported. It involved a patient in whom the bone disorder was detected 10 months prior to the clinical manifestation of the tumour. Hypertrophic pneumic osteoarthropathy is a clinical and radiological syndrome characterized by proliferation of periosteum in long bones with digital clubbing. In over 90 % of the cases, it has been associated with an intra-thoracic tumour and more rarely secondary to a malignant haemopathy or ENT cancer, particularly of the rhinopharynx. As far as we know, the association with carcinoma of the tonsils has not previously been described.
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PMID:[Hypertrophic osteoarthropathy: a rare manifestation of an amygdalar tumour]. 1737 96

A 51-year-old man with a known history of hepatic cirrhosis and a right lung mass presented with hemoptysis and widespread bone pain. Sputum cytology demonstrated atypical cells. A CT scan of the chest demonstrated a 3-cm spiculating mass in the right lower lobe, in addition to nodules in both upper lobes and lymphadenopathy within the mediastinum and both hila. Skeletal scintigraphy was performed to assess for metastatic bone disease, and demonstrated increased tracer uptake along the cortex of the distal femurs bilaterally. There was also low-grade cortical uptake in the mid femur and tibia bilaterally on planar imaging. SPECT/CT was able to improve the specificity of the planar scintigraphic findings, by confirming tracer uptake was localized to the periosteum as expected for hypertrophic pulmonary osteoarthropathy, thereby excluding the presence of skeletal metastases.
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PMID:Hypertrophic pulmonary osteoarthropathy demonstrated on SPECT/CT. 1969 32

Mutations of SQSTM1 occur in about10% of patients with Paget's disease of bone (PDB), but it is unclear whether they play a causal role or regulate susceptibility to an environmental trigger. Here we show that mice with a proline to leucine mutation at codon 394 of mouse sqstm1 (P394L), equivalent to the P392L SQSTM1 mutation in humans, develop a bone disorder with remarkable similarity to PDB. The P394L mutant mice developed focal bone lesions with increasing age and by 12 months, 14/18 (77%) heterozygotes and 20/21 (95%) homozygotes had lesions, compared with 0/18 (0%) wild-type littermates (P< 0.001). Lesions predominantly affected the lower limbs in an asymmetric manner and were characterized by focal increases in bone turnover, with increased bone resorption and formation, disruption of the normal bone architecture and accumulation of woven bone. Osteoclasts within lesions were larger and more nucleated than normal and some contained nuclear inclusions similar to those observed in human PDB. Osteoclast precursors from P394L mutant mice had increased sensitivity to RANKL in vitro resulting in the generation of osteoclasts that were larger and more nucleated than those generated from wild-type littermates. There was increased expression of sqstm1, autophagy-related gene 5 (atg5) and light chain 3 gene (lc3) in osteoclast precursors and increased LC3-II protein levels in Bafilomycin-treated osteoclasts from P394L mutant mice compared with wild-type suggesting dysregulation of autophagy and enhanced autophagosome formation. These studies demonstrate that SQSTM1 mutations can cause a PDB-like skeletal disorder in the absence of an additional trigger and provide a new disease model for PDB.
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PMID:A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. 2151 89


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