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Skeletal Changes (skeletal + change)
Selected AbstractsOBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels,HUMAN MUTATION, Issue 1 2010Celine Huber Abstract 3-M syndrome is an autosomal recessive disorder characterized by severe pre- and postnatal growth retardation and minor skeletal changes. We have previously identified CUL7 as a disease-causing gene but we have also provided evidence of genetic heterogeneity in the 3-M syndrome. By homozygosity mapping in two inbred families, we found a second disease locus on chromosome 2q35,36.1 in a 5.2-Mb interval that encompasses 60 genes. To select candidate genes, we performed microarray analysis of cultured skin fibroblast RNA from one patient, looking for genes with altered expression; we found decreased expression of IGFBP2 and increased expression of IGFBP5. However, direct sequencing of these two genes failed to detect any anomaly. We then considered other candidate genes by their function/location and found nine distinct mutations in the OBSL1 gene in 13 families including eight nonsense and one missense mutations. To further understand the links between OBSL1, CUL7, and insulin-like growth factor binding proteins (IGFBPs), we performed real-time quantitative PCR (RT-PCR) analysis for OBSL1, CUL7, IGFBP2, and IGFBP5, using cultured fibroblast RNAs from two patients with distinct OBSL1 mutations (p.F697G; p.H814RfsX15). We found normal CUL7 mRNA levels but abnormal IGFBP2 and IGFBP5 mRNA levels in the two patients, suggesting that OBSL1 modulates the expression of IGFBP proteins. Hum Mutat 30:1,7, 2009. © 2009 Wiley-Liss, Inc. [source] The treatment of leprosy in 19th-century London: a case study from St Marylebone cemeteryINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2009D. WalkerArticle first published online: 19 MAY 200 Abstract A young adult male, context [825], exhibiting a suite of proliferative and erosive skeletal changes, was excavated from the old burial ground of St Marylebone, London, in 2005 by the Museum of London Archaeology Service (MoLAS). Although pathognomonic rhinomaxillary changes were absent, a number of lesions were of a type previously recorded in individuals suffering from lepromatous leprosy, including resorption of the alveolar process of the maxillae and the digits of the right hand, osteomyelitis in the left ulna and collapse of the left ankle. Whilst this infectious disease was widespread in medieval Britain, it had declined by the 19th century, and has been identified in only one other post-medieval archaeological context. The right leg of [825] had been surgically amputated. This form of intervention was a recognised treatment for the complications of the disease, where neuropathic damage of limbs led to life-threatening infection. The healing of the amputation demonstrates the success of the operation, and the skill of the surgeon. Although the identity of the affected individual is unknown, burial within St Marylebone cemetery implies a level of status not frequently associated with leprosy sufferers in the past. Copyright © 2008 John Wiley & Sons, Ltd. [source] A high status burial from Ripon Cathedral, North Yorkshire, England: differential diagnosis of a chest deformityINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2003S. Groves Abstract Excavations beneath the crossing at Ripon Cathedral in North Yorkshire recently revealed a burial radiocarbon dated to the late 15th century AD. The burial was that of a young adult female; the location of the grave suggests a person of relatively high status. The very well preserved skeleton revealed abnormal changes to the bones of the thoracic cavity including anterior bowing of the sternum, flattening of the spinous processes of thoracic vertebrae three to nine against the processes below each one, and changes to the ribs that suggested anterior displacement of the rib cage. The skeletal changes are described and differential diagnoses presented. Treatment to an underlying chest deformity, ,pectus carinatum', is thought to be the underlying cause of the skeletal changes; this study may lend direct insight into the concepts of body image in the Medieval period. Copyright © 2003 John Wiley & Sons, Ltd. [source] Exercise When Young Provides Lifelong Benefits to Bone Structure and Strength,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2007Stuart J Warden PT Abstract Short-term exercise in growing rodents provided lifelong benefits to bone structure, strength, and fatigue resistance. Consequently, exercise when young may reduce the risk for fractures later in life, and the old exercise adage of "use it or lose it" may not be entirely applicable to the skeleton. Introduction: The growing skeleton is most responsive to exercise, but low-trauma fractures predominantly occur in adults. This disparity has raised the question of whether exercised-induced skeletal changes during growth persist into adulthood where they may have antifracture benefits. This study investigated whether brief exercise during growth results in lifelong changes in bone quantity, structure, quality, and mechanical properties. Materials and Methods: Right forearms of 5-week-old Sprague-Dawley rats were exercised 3 days/week for 7 weeks using the forearm axial compression loading model. Left forearms were internal controls and not exercised. Bone quantity (mineral content and areal density) and structure (cortical area and minimum second moment of area [IMIN]) were assessed before and after exercise and during detraining (restriction to home cage activity). Ulnas were removed after 92 weeks of detraining (at 2 years of age) and assessed for bone quality (mineralization) and mechanical properties (ultimate force and fatigue life). Results: Exercise induced consistent bone quantity and structural adaptation. The largest effect was on IMIN, which was 25.4% (95% CI, 15.6,35.3%) greater in exercised ulnas compared with nonexercised ulnas. Bone quantity differences did not persist with detraining, whereas all of the absolute difference in bone structure between exercised and nonexercised ulnas was maintained. After detraining, exercised ulnas had 23.7% (95% CI, 13.0,34.3%) greater ultimate force, indicating enhanced bone strength. However, exercised ulnas also had lower postyield displacement (,26.4%; 95% CI, ,43.6% to ,9.1%), indicating increased brittleness. This resulted from greater mineralization (0.56%; 95% CI, 0.12,1.00%), but did not influence fatigue life, which was 10-fold greater in exercised ulnas. Conclusions: These data indicate that exercise when young can have lifelong benefits on bone structure and strength, and potentially, fracture risk. They suggest that the old exercise adage of "use it or lose it" may not be entirely applicable to the skeleton and that individuals undergoing skeletal growth should be encouraged to perform impact exercise. [source] Estrogen and Bone,a Reproductive and Locomotive Perspective,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 11 2003Teppo Ln Järvinen MD Abstract The primary function of the skeleton is locomotion, and the primary function of estrogen is reproduction. When the skeleton is considered within this locomotive context, the onset of estrogen secretion at puberty leads to packing of mechanically excess mineral into female bones for reproductive needs. Accordingly, the unpacking of this reproductive safety deposit at menopause denotes the origin of type I osteoporosis. Introduction: According to the prevailing unitary model of involutional osteoporosis, female postmenopausal bone loss can be described as having an initial accelerated, transient phase (type I), followed by a gradual continuous phase (type II). Estrogen withdrawal is generally accepted as the primary cause of the type I osteoporosis. Thus, the quest to uncover the origin of type I osteoporosis has focused on the estrogen withdrawal-related skeletal changes at and around the menopause. However, considering that the cyclical secretion of estrogen normally begins in early adolescence and continues over the entire fertile period, one could argue that focusing on perimenopause alone may be too narrow. Materials and Methods: This is not a systematic review of the literature on the skeletal function of estrogen(s), but rather, an introduction of a novel structure- and locomotion-oriented perspective to this particular issue through pertinent experimental and clinical studies. Results and Conclusions: When considering locomotion as the primary function of the skeleton and integrating the classic findings of the pubertal effects of estrogen on female bones and the more recent hypothesis-driven experimental and clinical studies on estrogen and mechanical loading on bone within this context, a novel evolution-based explanation for the role of estrogen in controlling female bone mass can be outlined: the onset of estrogen secretion at puberty induces packing of mechanically excess bone into female skeleton for needs of reproduction (pregnancy and lactation). Accordingly, the unpacking of this reproductive safety deposit of calcium at menopause denotes the accelerated phase of bone loss and thus the origin of type I osteoporosis. [source] Reversible skeletal changes after treatment with bevacizumab in a child with cutaneovisceral angiomatosis with thrombocytopenia syndromePEDIATRIC BLOOD & CANCER, Issue 3 2008Angela R. Smith MD Abstract Cutaneovisceral angiomatosis with thrombocytopenia (CAT) syndrome is a rare vascular disorder of the skin and gastrointestinal tract for which there is no standard treatment. We present a case in which a child with CAT syndrome was treated with bevacizumab, a vascular endothelial growth factor inhibitor, and subsequently developed asymptomatic metaphyseal bone lesions. Though not previously described as a side effect, we hypothesize that the use of bevacizumab in a child with active epiphyseal growth plates caused these radiographic lesions. Because of the potential for altered bone growth and metabolism, children receiving VEGF inhibitors should be monitored closely for bony toxicity. Pediatr Blood Cancer 2008;51:418,420. © 2008 Wiley-Liss, Inc. [source] Asymmetry of the os pubis: Implications for the Suchey-Brooks methodAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 2 2009Rebecca S. Overbury Abstract Studies of skeletal development frequently document populational incidences of bilateral asymmetry. Degenerative morphological skeletal changes, attributed to age related and irregular ossification, may also progress asymmetrically, either as the result of asymmetric biomechanical factors expressed over the lifespan, asymmetric expression of physiological processes, or progressive magnification of asymmetry acquired previously during development. This study illustrates the effects of bilateral asymmetry on age at death estimates obtained from human skeletal remains. The Suchey-Brooks method, which uses the pubic symphyseal face for age estimation (Katz and Suchey, Am J Phys Anthropol 69 1986 427,435), was selected for the study based on its widespread use. Asymmetry in the Suchey-Brooks symphyseal age phases was found in over 60% of a sample composed of 20th century White male individuals from 18 to 86 years of age (N = 130). However, results suggest that the presence of asymmetry does not compromise the accuracy of the Suchey-Brooks method if the morphologically older symphyseal face of an asymmetric individual is used to estimate age at death. In addition, weak directional asymmetry and a correlation between age and asymmetry were found. This suggests that a comparison of asymmetry in this area with that in other skeletal areas, where the factors originating and influencing asymmetry are better understood, may be useful in better understanding the biological processes which underlie the age markers used in the Suchey-Brooks method. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] Osteological Examinations on the Budgerigar (Melopsittacus undulatus Shaw 1805) with Special Reference to Skeletal Alterations Conditioned by BreedingANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 4 2009T. Bartels Summary The aims of this study were to examine the skeleton of domesticated budgerigars of phenotypically different breeding types, to describe the expression of skeletal changes and to discuss the results with special reference to the causes and effects of breed-conditioned alterations. Complete skeletons of 39 adult budgerigars of both sexes were the object of our research. The examinations demonstrated that almost all metrically sized skeleton dimensions of budgerigars of the exhibition type were increased significantly, compared with those of the non-exhibition type. Only for the scapula significant length differences between the budgerigars of both breeding types could not be verified. It can be stated that the measuring parameters ,occipital width', ,maxilla length', ,skull length' and ,prefrontal width' are suitable for the characterization of exhibition budgerigars. However, sexual dimorphisms could be verified in only three parameters (width of the pars symphysialis mandibulae, height of the skull, width of the skull within the range of the occiput). It has to be clarified in future studies to what extent the changes in the skeleton of budgerigars of the exhibition type have already had consequences for their flying ability, metabolism, health and well-being. [source] | |||||||||||||