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Skeletal Involvement (skeletal + involvement)
Selected AbstractsFine-needle aspiration cytology of Rosai-Dorfman disease of boneDIAGNOSTIC CYTOPATHOLOGY, Issue 7 2008Xin Jing M.D. Abstract Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a rare, benign self-limiting condition of unknown etiology. Less than a quarter of cases have only extranodal involvement and a few cases of skeletal involvement of Rosai-Dorfman disease without associated lymphadenopathy have been reported in the literature. We herein report cytohistologic findings in a case of sole skeletal Rosai-Dorfman disease in a 51-year-old woman who presented with an expansile, heterogeneous lesion at T11 with cord compression and edema. A CT-guided fine-needle aspiration of T-11 lesion was performed and the sample was processed by ThinPrep technique. The ThinPrep smear showed characteristic features of Rosai-Dorfman disease including hypercellularity with moderate number of histiocytes in a background of lymphocytes, plasma cells, and neutrophils. The histiocytes possessed abundant, pale and vacuolated cytoplasm, rounded nuclei with smooth nuclear membranes, fine chromatin, and distinct nucleoli. The histiocytes showed emperipolesis of lymphocytes and neutrophils. The diagnosis was confirmed by concurrent biopsy with immunhistochemical study. Our case highlighted the role of fine-needle aspiration with ThinPrep technique in the diagnosis of Rosai-Dorfman disease. Diagn. Cytopathol. 2008;36:516,518. © 2008 Wiley-Liss, Inc. [source] Urinary N-telopeptide levels in multiple myeloma patients, correlation with Tc-99m-sestaMIBI scintigraphy and other biochemical markers of disease activityHEMATOLOGICAL ONCOLOGY, Issue 1 2003M. G. Alexandrakis Abstract Urinary cross-linked N-telopeptide of type I collagen (NTx) has been reported to be a sensitive and specific marker of bone resorption in multiple myeloma (MM). In this study, we measured the levels of NTx in 30 newly diagnosed MM patients and 25 controls. We examined its association with the overall score of skeletal involvement measured by Tc-99m-MIBI scintigraphy and other biochemical markers of bone disease (tumour necrosis factor a (TNF-a), serum calcium and creatinine). We further studied the correlation of NTx with the stage of disease (according to Durie,Salmon criteria) and bone marrow infiltration by plasma cells. High levels of NTx, bone marrow infiltration, TNF-,, calcium and creatinine were noted at advanced stages of disease (p,<,0.05). NTx and TNF-a were found at significantly higher concentrations in patients with a high overall score (3 and 4) in Tc-99m-sestaMIBI in comparison to a low score (0, 1 and 2; p,<,0.05). Positive correlations were found between NTx and TNF-a, as well as between bone infiltration and TNF-a or calcium. In conclusion, NTx is a useful marker for the monitoring of bone resorption in MM and correlates with imaging findings on Tc-99m-sestaMIBI and other biochemical markers of disease activity. Copyright © 2002 John Wiley & Sons, Ltd. [source] The distribution of skeletal lesions in treponemal disease: is the lymphatic system responsible?INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2002Hallie R. Buckley Abstract The differential diagnosis of bone lesions in treponemal disease is well established in palaeopathology. However, the actual mechanism responsible for the characteristic distribution of bone involvement is not as clear. Two mechanisms are proposed in the literature. Firstly, that bone lesions are the result of direct extension from the skin rash of the secondary stage of disease. Secondly, that bones situated closer to the skin are more vulnerable to local trauma and therefore more likely to elicit a subperiosteal bone response. We propose an alternative explanation for the characteristic distribution of bone lesions in treponemal disease. This explanation is based on the close association between the lymphatic and skeletal systems and the pathogenesis of treponemal disease. This paper argues that the position of the lymphatic nodes and vessels, with little soft tissue intervention between bone tissue, mirrors the characteristic pattern of skeletal involvement in treponemal disease. Copyright © 2002 John Wiley & Sons, Ltd. [source] Is the Prevalence of Paget's Disease of Bone Decreasing?,JOURNAL OF BONE AND MINERAL RESEARCH, Issue S2 2006Tim Cundy Abstract Secular trends in the severity and prevalence of Paget's disease over a 30-year period are described. Paget's disease has become less prevalent and patients are presenting later, with less severe disease than previously. These data suggest that environmental factors are important in the etiology of Paget's disease. Introduction: Data from several countries support the view that there are important secular trends in the prevalence and severity of Paget's disease. In this paper, recent trends in the epidemiology of Paget's disease are described. Materials and Methods: A database of all newly referred patients (n = 1487) with Paget's disease (1973,2002 inclusive, 30 years) was examined. Of these subjects, 56% had scintiscans. Plasma total alkaline phosphatase (total ALP) activity and disease extent on scintiscan were used as indices of severity. A radiographic prevalence survey of 1019 subjects of European origin >55 years of age in Dunedin was undertaken,,20 years after an earlier survey had shown New Zealand to be a high prevalence area. Results: The number of new referrals with Paget's disease declined sharply from 1994 onward, to one half the rate seen 20 years earlier, whereas the mean age at presentation increased by 4 years per decade (p < 0.0001). Total ALP at diagnosis, disease extent on scintiscan, and the number of bones involved were all negatively correlated with both date of birth (p < 0.0001) and year of presentation (p < 0.0001), indicating that more recently born and presenting subjects had substantially less severe bone disease. The radiographic survey showed that the current prevalence was only ,50% of that in the 1983 survey (p = 0.012). Conclusions: Although there are a number of potential biases, these data are consistent with a continued secular trend to presentation in older subjects with less extensive skeletal involvement and a declining prevalence of Paget's disease. [source] Novel intraoral phenotypes in hyperimmunoglobulin-E syndromeORAL DISEASES, Issue 1 2008DL Domingo Aim:, Hyperimmunoglobulin-E syndrome (HIES) is a primary immunodeficiency characterized by eczema, recurrent skin and lung infections with pneumatocoele formation, and extremely elevated serum immunoglobulin-E. The precise immunologic defect and genetic etiology remain unknown. Non-immunologic findings include characteristic facial features (prominent forehead, fleshy nasal tip, and increased interalar distance); skeletal involvement (pathological fractures, scoliosis, and craniosynostosis); and retention of primary teeth. This study aims to characterize intraoral soft tissue findings in HIES patients. Methods:, Sixty HIES patients (4,54 years, 27 males, 33 females) received intraoral and radiographic evaluations. Chronological dental development was also assessed. Results:, Lesions of the hard palate and dorsal tongue were found in 55% and 60% of patients, respectively. Palatal lesions ranged from a generalized surface keratosis to a midline sagittal fibrotic bridge. Tongue lesions consisted of multiple fissures and a midline cleft. On the lip and buccal mucosa, keratotic plaques and/or surface fissures were found in 8% and 23% of patients, respectively. Manifested in 76.7% of patients, the intraoral lesions were significantly more prevalent than the characteristic facial traits (P = 0.0013). Conclusions:, Alterations in oral mucosa and gingiva were present in the majority of HIES patients. These novel intraoral findings may facilitate the diagnosis of HIES. [source] Vitamin D status in female patients with primary hyperparathyroidism: does it play a role in skeletal damage?CLINICAL ENDOCRINOLOGY, Issue 1 2004Vincenzo Carnevale Summary objective, Vitamin D deficiency, even subclinical, has been considered to worsen the skeletal damage in primary hyperparathyroidism (PHPT). Our study aimed to investigate the impact of vitamin D status on skeletal involvement in PHPT. design and measurements, A cross-sectional study was designed involving 62 female patients with PHPT. Serum total calcium (tCa), phosphate (P), creatinine (Cr) and total alkaline phosphatase activity (AP), together with 24-h (uCa 24 h) and spot fasting (uCa/Cr) urinary calcium, were measured by autoanalyser; ionized calcium (iCa) was assessed by an ion-specific electrode; intact parathyroid hormone (PTH) was measured by immunoradiometric assay (IRMA) and 25-hydroxyvitamin D (25-OHD) by radioimmunoassay (RIA). Bone mineral density (BMD) was measured by dual energy X-ray absorptiometry (DXA) at lumbar spine in 58 patients, and at femoral neck, Ward's triangle, greater trochanter, intertrochanteric line and total hip in 56 patients. The associations of all variables with age, 25-OHD, body mass index (BMI) and PTH were studied by linear multiple regression analysis, using progressively restricted models. results, The model including age, 25-OHD, PTH and BMI showed significant regression with BMD values. PTH, age and BMI exerted a leading role in determining such a significance, while no significant regression was found between the parameters studied and 25-OHD; this was confirmed by Pearson's linear correlation analysis. The progressively restricted models showed significant regression of BMD at femoral neck, femoral intertrochanteric line and total hip with age, BMI and PTH. BMD measured at the Ward's triangle and greater trochanter showed significant regression with age and BMI, and that measured at lumbar spine with age. conclusions, Our data indicate that in primary hyperparathyroidism patients the influence of 25-hydroxyvitamin D levels on bone mineral density, if any, was overwhelmed by the effects of parathyroid hormone excess, age and body mass index. The latter unequally affected bone mineral density of various measured sites with different composition. [source] The brachydactylies: a molecular disease familyCLINICAL GENETICS, Issue 2 2009S Mundlos Brachydactyly refers to shortening of the hands and/or feet due to missing, deformed, or shortened bones. It may occur as an isolated trait or as part of a syndrome. According to their pattern of skeletal involvement, the isolated brachydactyly forms have been categorized in the groups A,D including several subgroups. As in many other genetic conditions, there is considerable phenotypic overlap between the groups. The identification of the molecular causes of these conditions has offered insights into their pathogenesis. The generation of animal models has facilitated research on the pathogenic events during digit development that lead to the brachydactyly phenotype. These studies have shown that the BMP pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. Together, these genes function in a regulatory network which is deregulated in the disease state. As a consequence of the close interactions within the network, overlapping phenotypes are generated that are, nevertheless, characterized by specific recognizable patterns. This principle does not only apply for the brachydactylies but is also valid for many other disease entities. Groups of diseases that show a common phenotypic pattern due to the deregulation of a molecular network are suggested to be called molecular disease families. [source] | ||||||||||