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Lauer S.R.,Emory University | Edgar M.A.,Emory University | Gardner J.M.,University of Arkansas for Medical Sciences | Sebastian A.,Baystate Childrens Hospital | Weiss S.W.,Emory University
American Journal of Surgical Pathology | Year: 2013

Soft tissue chordomas (STCs) have never been systematically studied because of their rarity and the difficulty in separating them from similar-appearing lesions. Using brachyury to confirm the diagnosis, we have analyzed our experience with 11 cases. Cases coded as "chordoma" or "parachordoma" were retrieved from institutional and consultation files (1989 to 2011) and were excluded from further analysis if they arose from the bone or in a patient with previous axial chordoma. Eleven of 27 cases met inclusion criteria. Patients (8 male; 3 female) ranged in age from 13 to 71 years (mean 44 y). Tumors were located on the buttock (n=2), wrist (n=2), leg (n=2), toe (n=1), thumb (n=1), ankle (n=1), shoulder (n=1), and chest wall (n=1), ranged in size from 0.5 to 10.9 cm (mean 5.3 cm), and consisted of cords and syncytia of spindled/epithelioid cells with vacuolated eosinophilic cytoplasm and a partially myxoid background. Tumors expressed brachyury (10/10), 1 or more cytokeratins (11/11), and S100 protein (10/11). Follow-up information was available for 10 patients (69 mo; range, 2 to 212 mo). Most (n=6) were alive without disease, 2 developed local recurrence and lung metastases, and 1 developed lung metastasis only. One died with unknown disease status. STCs are histologically identical to osseous ones, but differ in their greater tendency to occur in distal locations where small size and surgical resectability result in better disease control. The existence of STC implies that notochordal remnants are not a prerequisite for chordoma development. Copyright © 2013 by Lippincott Williams &Wilkins.

Gasier H.G.,Duke University | Hughes L.M.,United Medical Systems | Young C.R.,United Medical Systems | Richardson A.M.,Baystate Childrens Hospital
Osteoporosis International | Year: 2014

Summary: The submarine environment is unique in that there is limited space and no sunlight, which may negatively affect skeletal health and lead to accelerated bone loss, osteoporosis, and fractures. Introduction: The primary purpose of this study was to determine whether there was an association with submarine service, specifically time spent at sea, and bone mineral content (BMC) and bone mineral density (BMD) of the lumbar spine and dual proximal femur (total hip and femoral neck) measured by DXA. Methods: This is a cross-sectional study of 462 submariners 20-91 years old. Variables included in the analysis were age, height, race, alcohol intake, tobacco use, fracture history, conditions, and medications known to cause bone loss and osteoporosis and submarine service. Results: Of the submarine service predictors, only serving onboard a diesel submarine was determined to be independently associated with a reduction in BMD of the total hip and femur neck, while no submarine service predictor increased the odds of having low BMD. In submariners 50+ years old, the age-adjusted prevalence of osteopenia was 15.7 % (lumbar spine) and 40.4 % (femur neck), while the prevalence of osteoporosis was 4.8 % (lumbar spine) and 4.2 % (femur neck), rates that did not differ from NHANES 2005-2008. In submariners <50 years old, 3.1 % was below the expected range for age. The proportion of submariners 50+ years old that met the FRAX criteria for pharmacological treatment was 12 %. Conclusions: Intermittent periods of submergence that can range from a few days to 3+ months do not appear to compromise skeletal health differently than the general population. © 2014 International Osteoporosis Foundation and National Osteoporosis Foundation.

Botkin J.R.,University of Utah | Kaye C.I.,University of Colorado at Denver | Haddow J.E.,Brown University | Bradley L.A.,Brown University | And 3 more authors.
Genetics in Medicine | Year: 2010

Genetic tests are increasingly available for use in traditional clinical practice settings and through direct-to-consumer marketing. The need for evidence-based information and guidance on their appropriate use has never been more apparent. The independent Working Group of the Evaluation of Genomic Applications in Practice and Prevention Initiative commissions evidence-based reviews and develops recommendations to inform decision making surrounding the implementation of genetic tests and other applications of genomic technologies into clinical practice. A critical component of this analysis involves the identification and appropriate weighting of relevant health outcomes from genetic testing. Impacts of testing on morbidity and mortality are central considerations although research to document such outcomes can be challenging to conduct. In considering the broader impacts of genetic tests on the individual, familial and societal levels, psychosocial outcomes often take on increasing importance, and their systematic evaluation is a challenge for traditional methods of evidence-based review. Incorporating these types of outcomes in evidence-based processes is possible, however, and necessary to extract balanced and complete (or as complete as available data will allow) information on potential benefits and on potential harms. The framework used by the Evaluation of Genomic Applications in Practice and Prevention Working Group in considering, categorizing, and weighting health-related outcomes as applied to genomic technologies is presented here. © 2010 The American College of Medical Genetics.

Ross J.,Thomas Jefferson University | Czernichow P.,Necker Enfants Malades Hopital | Biller B.M.K.,Massachusetts General Hospital | Colao A.,University of Naples Federico II | And 2 more authors.
Pediatrics | Year: 2010

The therapeutic benefit of growth hormone (GH) therapy in improving height in short children is widely recognized; however, GH therapy is associated with other metabolic actions that may be of benefit in these children. Beneficial effects of GH on body composition have been documented in several different patient populations as well as improvements in lipid profile. Marked augmentation of bone mineral density also seems evident in many pediatric populations. Some of these benefits may require continued therapy past the acquisition of adult height. With long-term therapy of any kind, the adverse consequences of treatment should also be considered. Fortunately, long-term GH treatment seems to be safe and well-tolerated. This review describes the long-term metabolic effects of GH treatment in the pediatric population and considers how these may benefit children who are treated with GH.

Sieswerda-Hoogendoorn T.,Netherlands Forensic Institute | Sieswerda-Hoogendoorn T.,Academic Medical Center Amsterdam | Boos S.,Baystate Childrens Hospital | Spivack B.,Consulting Child Abuse Paediatrician in Buffalo | And 3 more authors.
European Journal of Pediatrics | Year: 2012

Abusive Head Trauma (AHT) refers to the combination of findings formerly described as shaken baby syndrome. Although these findings can be caused by shaking, it has become clear that in many cases there may have been impact trauma as well. Therefore a less specific term has been adopted by the American Academy of Pediatrics. AHT is a relatively common cause of childhood neurotrauma with an estimated incidence of 14-40 cases per 100,000 children under the age of 1 year. About 15- 23% of these children die within hours or days after the incident. Studies among AHT survivors demonstrate that approximately one-third of the children are severely disabled, one-third of them are moderately disabled and one-third have no or only mild symptoms. Other publications suggest that neurological problems can occur after a symptom-free interval and that half of these children have IQs below the 10th percentile. Clinical findings are depending on the definitions used, but AHT should be considered in all children with neurological signs and symptoms especially if no or only mild trauma is described. Subdural haematomas are the most reported finding. The only feature that has been identified discriminating AHT from accidental injury is apnoea. Conclusion: AHT should be approached with a structured approach, as in any other (potentially lethal) disease. The clinician can only establish this diagnosis if he/she has knowledge of the signs and symptoms of AHT, risk factors, the differential diagnosis and which additional investigations to perform, the more so since parents seldom will describe the true state of affairs spontaneously. © Springer-Verlag 2011.

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