|
| ||
|
|
||
Bone Abnormalities (bone + abnormality)
Selected AbstractsFine-needle aspiration of brown tumor of bone: Cytologic features with radiologic and histologic correlationDIAGNOSTIC CYTOPATHOLOGY, Issue 2 2009Ph.D., Sasha Pavlovic M.D. Abstract We report the case of a 40-year-old man with tertiary hyperparathyroidism due to end stage renal disease who initially presented with acute-onset paraplegia, elevated serum parathyroid hormone, and multiple bone abnormalities, including a large extradural intraspinal mass seen by magnetic resonance imaging. In contrast with imaging features, fine-needle aspiration cytology showed numerous benign-appearing multinucleated osteoclast-type giant cells that are the characteristics of either brown tumor or benign giant cell tumor of bone. Sheets of mononuclear spindled stromal cells were also noted. A core-needle biopsy confirmed the diagnostic features of brown tumor of hyperparathyroidism. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] Murine TNF,ARE Crohn's disease model displays diminished expression of intestinal Ca2+ transportersINFLAMMATORY BOWEL DISEASES, Issue 6 2008Sylvie Huybers MSc Abstract Background: Patients suffering from Crohn's disease (CD) show increased incidence of low bone mineral density. Investigating this complication is difficult because the exact etiology of CD remains elusive. Mice carrying a deletion in the tumor necrosis factor (TNF) AU-rich elements (ARE) are reported as a model for human CD and are characterized by elevated TNF-, levels and inflammations in the terminal ileum. To evaluate whether these mice have a Ca2+ handling problem, this study analyzed the Ca2+ homeostasis in heterozygous TNF,ARE mice (TNF,ARE/+) in comparison to wildtype littermates. Methods: Beside serum Ca2+ and vitamin D levels, the expression of Ca2+ transporters was analyzed in intestine, kidney and bone using quantitative real-time PCR, Western blot and immunohistochemistry. Bone scans were performed to measure bone parameters. Results: Ca2+ transporters in duodenum (TRPV6, calbindin-D9K, PMCA1b) and kidney (TRPV5, calbindin-D28K, NCX1) showed significantly reduced mRNA expression levels in TNP,ARE/+ mice, except for renal TRPV5. In bone, only calbindin-D9K mRNA displayed a significant down-regulation. These findings were supported by declined duodenal calbindin-D9K and renal calbindin-D28K protein values. Likely, this down-regulation of Ca2+ transporters in TNP,ARE/+ mice is mediated by the 58 ± 9% reduction in serum 1,25(OH)2D3 levels. Diminished expression of Ca2+ transporters combined with unchanged serum Ca2+ levels assumes Ca2+ loss from bone to compensate for the body's overall Ca2+ shortage. Indeed, microcomputed tomography scanning demonstrated reduced trabecular and corticol bone thickness and volume in TNF,ARE/+ mice. This finding is further supported by increased total deoxypyridinoline in serum. Conclusions: Our results imply that TNF,ARE/+ mice have a disturbed Ca2+ homeostasis characterized by reduced duodenal and renal Ca2+ transporters, diminished 1,25(OH)2D3 levels, and increased bone resorption associated with profound bone abnormalities. (Inflamm Bowel Dis 2008) [source] Paleopathology and health of native and introduced animals on Southern Peruvian and Bolivian Spanish Colonial sitesINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 5 2010S. D. Defrance Abstract Spanish colonial sites in southern Peru and Bolivia contain remains of native camelids and introduced bovids with examples of degenerative paleopathologies that are interpreted as reflecting changes in herd management, animal use and animal health following the Spanish conquest. The archaeological contexts include three Spanish colonial wineries from Moquegua in southern Peru and the nearby colonial village of Torata Alta where indigenous people were forced to resettle under Spanish control. Also from Peru is faunal material from the 14th to 16th century rural agropastoral village of Pillistay located near Camana. Animal remains with bone abnormalities are also present in residential, commercial and industrial sites associated with Spanish silver mining near Potosí, Bolivia at Tarapaya and Cruz Pampa. Eighteen pathological specimens are described including examples of degenerative changes to phalanges, vertebrae, tarsals, limb elements and ribs. Paleopathologies present include exostoses, osteophytes, porosity, grooving and eburnation. Examples of phalangeal exostoses on bovid phalanges indicate the use of these introduced animals as draught cattle. Exostoses on camelid first phalanges suggests their use as cargo animals as do thoracic vertebrae with severe cases of degenerative pathology. Introduced caprines contain few pathologies indicating their primary use as food animals. The bone abnormalities from colonial sites are more severe than those reported for prehispanic faunal assemblages. These data provide insights into the health and work behaviour of indigenous Andean camelids and introduced Eurasian animals following the Spanish conquest. Copyright © 2009 John Wiley & Sons, Ltd. [source] Studies on the appearance of skeletal anomalies in red porgy: effect of culture intensiveness, feeding habits and nutritional quality of live preysJOURNAL OF APPLIED ICHTHYOLOGY, Issue 2 2010M. S. Izquierdo Summary Despite the great interest of red porgy as a new species for Mediterranean aquaculture, its commercial production is constrained by the high incidence of skeletal deformities occurring in this species under culture conditions. Several studies have been conducted to better understand the origin of these anomalies in this species, using different system intensiveness, rotifers enrichment products or rotifers docosahexaenoic acid content. The first study showed that culture intensification increased the number of fish with an extra vertebrae, what was probably related to the different nutritional quality of live preys employed in each treatment, since water temperature, salinity and genetic background were identical for the different batches of fish studied. Total incidence of skeletal abnormalities was higher in the intensive system, particularly cranial abnormalities and kyphosis in the cephalic vertebrae. In both rearing systems the most common skeletal anomalies were vertebral column disorders, lordosis and fused vertebrae, their localization along the column being affected by the culture intensiveness. Rotifer enrichment, predominantly its docosahexaenoic acid content significantly affected deformities occurrence. A marked positive effect of rotifer docosahexaenoic acid content was found on larval survival. X-ray studies denoted elevated levels of bone abnormalities associated, in both trials, to low docosahexaenoic acid content in live preys. Among different anomalies, the presence of fused vertebrae was the most frequent deformity for both rearing trials. A 50% reduction in the number of deformed fish for each type of deformity was obtained when the larvae were fed higher docosahexaenoic acid levels, denoting the important role of this fatty acid in bone development. Further studies are needed to elucidate the importance of essential fatty acids on the development of bone deformities in fish, since the functions of these fatty acids differ among them and can lead to very different effects in fish metabolism, including bone formation. [source] Histomorphometrical studies of vertebral bone condition in farmed rainbow trout, Oncorhynchus mykissJOURNAL OF APPLIED ICHTHYOLOGY, Issue 2 2010M.-H. Deschamps Summary A major problem for the fish farming industry is to find reliable indicators of bone condition that could help to prevent vertebral abnormalities. Here, we summarize the main results of two recent studies aiming to assess the variation of two vertebral bone variables (bone mineralization and vertebral total bone area) during rainbow trout grow-out in several French farms. We provide evidence for a wide range of variation for these parameters and for the occurrence of vertebral bone abnormalities, and new data on vertebral structure in trout reared either in various fish farms (influence of rearing conditions) or at different temperatures (influence of various growth rates). Although further experiments are needed to understand bone metabolism in trout, these findings increase our knowledge on growth and modelling of vertebrae, and provide valuable data that will enable comparisons in the future. [source] Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypesORAL DISEASES, Issue 3 2009DL Domingo Objective:, Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include ,bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. Methods:, Fifteen patients with confirmed p.G608G LMNA mutation (1,17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified. Results:, Radiographic findings included hypodontia (n = 7), dysmorphic teeth (n = 5), steep mandibular angles (n = 11), and thin basal bone (n = 11). Soft tissue findings included ogival palatal arch (n = 8), median sagittal palatal fissure (n = 7), and ankyloglossia (n = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) (P = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. Conclusion:, Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS. [source] Hearing Levels in Patients With Microtia: Correlation With Temporal Bone MalformationTHE LARYNGOSCOPE, Issue 3 2007Shin-ichi Ishimoto MD Abstract Objective: To evaluate the relationship between hearing level and temporal bone abnormalities in patients with microtia. Study Design: Retrospective case series study between 1992 and 2004. Setting: Academic, tertiary care referral medical center. Patients: We evaluated 115 ears of 89 patients (68 males, 21 females; mean age, 11 yr; range, 5-44 yr) with microtia. Main Outcome Measures: Hearing level was examined in patients with microtia. Developmental abnormalities of the temporal bone were evaluated by Jahrsdoerfer's computed tomography (CT) scoring system using high-resolution CT (HRCT) scans of the temporal bone. Temporal bone malformation scores were divided into four subgroups: ossicular development, windows connected to the cochlea, aeration of the middle ear cavity, and facial nerve aberration. Patients were divided into the stenosis and atresia groups on the basis of the appearance of the external auditory canal (EAC). We also evaluated the relationships between hearing level and four subtotal scores of the HRCT findings in the stenosis and atresia groups. Results: There was no relationship between hearing level and total points of HRCT scoring system or between hearing level and severity of microtia scored by Marx classification. With regard to subtotal points related to ossicles (4 points), the hearing level in ears with low scores (<2) (64.7 ± 1.6 dB) was significantly different (P = .03) from that in ears with high scores (,2) (54.0 ± 2.8 dB) in the stenosis group. In the atresia group, the hearing level was 64.3 ± 2.2 dB in ears with low scores and 62.3 ± 1.1 in ears with high scores (P > .5). As for subtotal points related to the windows connected to cochlea (2 points), the hearing level was 64.8 ± 2.6 dB in ears with low scores (0) and 55.9 ± 2.4 dB in ears with high scores (> = 1) in the stenosis group. In the atresia group, the hearing level was 67.7 ± 2.3 dB in ears with low scores and 61.5 ± 1.0 in ears with high scores. There was significant difference between ears with low and high scores in the stenosis group (P = .03) and atresia group (P = .009). There was no significant difference between ears with low and high scores with respect to the subtotal points related to aeration of the middle ear cavity and aberration of the facial nerve. Conclusion: The hearing level in microtic ears correlated with the formation of oval/round windows and ossicular development but not with the degree of middle ear aeration, facial nerve aberration, or severity of microtia. The hearing level can also serve as an indictor, such as the HRCT findings, to determine whether a subject's hearing will likely improve after reconstructive surgery. [source] Musculoskeletal abnormalities of the tibia in juvenile rheumatoid arthritisARTHRITIS & RHEUMATISM, Issue 3 2007Elena M. O. Felin Objective To characterize local bone geometry, density, and strength, using peripheral quantitative computed tomography (pQCT), compared with general bone characteristics as measured using dual x-ray absorptiometry (DXA), and to assess their relationship to disease-related factors in children with juvenile rheumatoid arthritis (JRA). Methods Forty-eight children ages 4,18 years with JRA (17 pauciarticular, 23 polyarticular, 8 systemic) were compared with age-matched healthy controls (n = 266). Measurements included cortical and trabecular bone geometry, density, and strength at the distal and midshaft tibia determined by pQCT, and whole-body, lumbar spine, and femoral neck measurements by DXA. Results Methotrexate (MTX) was prescribed to 23 of 48 patients (47.9%) and glucocorticoids and MTX were prescribed to 15 of 48 patients (31.3%), with the greatest use in children with systemic JRA. All JRA patients had decreased tibia trabecular bone density, cortical bone size and strength, and muscle mass. Children with systemic JRA had lower femoral neck densities. Systemic JRA was associated with a shorter, less mineralized skeleton, while a narrower, less mineralized skeleton was observed in polyarticular JRA. The tibia diaphysis was narrower with decreased muscle mass, but normal, size-adjusted bone mineral in all subtypes indicated a localized effect of JRA on bone. Patients exposed to glucocorticoids and MTX or to glucocorticoids or MTX alone had greatly reduced trabecular density, cortical bone geometry properties, and bone mineral content, muscle mass, and bone strength. Conclusion Children with JRA have decreased skeletal size, muscle mass, trabecular bone density, cortical bone geometry, and strength. Not surprisingly, these bone abnormalities are more pronounced in children with greater disease severity. [source] Onychomycosis in clinical practice: factors contributing to recurrenceBRITISH JOURNAL OF DERMATOLOGY, Issue 2003R.K. Scher Summary The treatment of onychomycosis has improved in recent years and many patients can now expect a complete and lasting cure. However, for up to 25% of patients, persistent disease remains a problem, thus presenting a particular challenge to the clinician. For these patients, it is obviously important to ensure that a correct diagnosis of onychomycosis has been made, as misdiagnosis will inevitably jeopardize the perception of therapeutic effectiveness. Although onychomycosis accounts for about 50% of all nail diseases seen by physicians, nonfungal causes of similar symptoms include repeated trauma, psoriasis, lichen planus, local tumours vascular disorders and inflammatory diseases. Predisposing factors that contribute to a poor response to topical and/or oral therapy include the presence of a very thick nail, extensive involvement of the entire nail unit, lateral nail disease and yellow spikes. However, poor penetration of systemic agents to the centre of infection, or the inability of topical agents to diffuse between the surface of the nail plate and the active disease below, probably contributes to this. Other factors contributing to recurrence may be related to the patient's family history, occupation, lifestyle or underlying physiology. In addition, patients with concomitant disease (e.g. peripheral vascular disease, diabetes) or patients who are immunosuppressed (e.g. those with human immunodeficiency virus/acquired immunodeficiency syndrome) are more susceptible to onychomycosis. In the elderly, the prevalence of onychomycosis may be as high as 60%, and increases with age; in this population, physical trauma plays a major role in precipitating recurrence, especially in patients with faulty biomechanics due to underlying arthritis and bone abnormalities. It is also possible that recurrence in some cases is due to early termination of treatment or use of an inappropriate dose, and these possibilities should be eliminated before further investigations are undertaken. ,There is good evidence to suggest that a combination of oral and topical therapies, when given at the same time, yield excellent clinical outcomes, although there remains a need for more effective topical agents with greater nail penetration and more effective oral antifungal agents. [source] Growth defect in Grg5 null mice is associated with reduced Ihh signaling in growth platesDEVELOPMENTAL DYNAMICS, Issue 1 2002Wen-Fang Wang Abstract Gene-targeted disruption of Grg5, a mouse homologue of Drosophila groucho (gro), results in postnatal growth retardation in mice. The growth defect, most striking in approximately half of the Grg5 null mice, occurs during the first 4,5 weeks of age, but most mice recover retarded growth later. We used the nonlinear mixed-effects model to fit the growth data of wild-type, heterozygous, and Grg5 null mice. On the basis of preliminary evidence suggesting an interaction between Grg5 and the transcription factor Cbfa1/Runx2, critical for skeletal development, we further investigated the skeleton in the mice. A long bone growth plate defect was identified, which included shorter zones of proliferative and hypertrophic chondrocytes and decreased trabecular bone formation. This decreased trabecular bone formation is likely caused by a reduced recruitment of osteoblasts into the growth plate region of Grg5 null mice. Like the growth defect, the growth plate and trabecular bone abnormality improved as the mice grew older. The growth plate defect was associated with reduced Indian hedgehog expression and signaling. We suggest that Grg5, a transcriptional coregulator, modulates the activities of transcription factors, such as Cbfa1/Runx2 in vivo to affect Ihh expression and the function of long bone growth plates. © 2002 Wiley-Liss, Inc. [source] | |||||||||||||