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The vast majority of the toxic tracelement lead (Pb) is stored in the skeleton. We have recently shown that Pb specifically accumulates in the tidemark (TM) of human articular cartilage at much higher levels compared to trabecular bone. However, the accumulation mechanisms as well as the chemical species of Pb at the TM, which is the border between calcified and non-calcified articular cartilage, are unknown. To check if X-ray absorption spectroscopy is feasible to determine the chemical form of Pb in human bones, we recorded Pb L3 edge EXAFS spectra at the TM of a human femoral head and of a synthetic apatite with 400 ppm Pb as reference substance. Since the estimated thickness of the TM is in the order of 10-20 μm it is necessary to measure the spectra with a small beam focus (here about 150 μm×150 μm) as it is available at the X-ray beamline of the Synchrotron Radiation Laboratory for Environmental Studies (SUL-X) of the synchrotron radiation source ANKA. For a quality check of the small focus setup the reference sample with its size of about 100 mm2 was also measured at the bulk X-ray absorption spectroscopy beamline of ANKA (ANKA-XAS). Because of the low Pb concentration of sample and reference substance the fluorescence mode was chosen to record the X-ray absorption spectra at both beamlines. Fluorescence radiation was collected with a 7 element Si (Li) detector (Gresham, now e2v) at SUL-X and with a 5 element Ge detector (Canberra) at ANKA-XAS. In both cases a silicon (111) crystal pair with a fixed beam exit was used as monochromator.The spectra obtained from the standard material showed no significant differences in noise, indicating that at SUL-X spectra with a quality similar to the bulk measurements can be achieved. Since Pb EXAFS amplitudes are weak compared to other elements we focus in the first data evaluation on the extended XANES (X-ray Absorption Near Edge Structure) region to achieve information about the chemical bond of Pb in hum

Background Limited information is available about sports activities of survivors after resection and reconstruction of primary malignant bone tumors with megaprostheses. Because patients often ask what activities are possible after treatment, objective knowledge about sports activities is needed to help assess the risks of sports participation and to help guide patients’ expectations. Questions/purposes The aims of this study were to evaluate (1) what proportion of patients with proximal-femoral megaprostheses placed as part of tumor reconstructions can perform sports; (2) what activity levels they achieved; and (3) whether sports activity levels are associated with an increased likelihood of revision. Methods This retrospective study considered all 27 living patients in our institutional tumor registry with enduring proximal-femoral reconstructions performed more than 5 years ago who were between the ages of 11 and 49 years at the time of the reconstruction; seven were lost to followup and one was excluded because of paraplegia as a result of a car accident and another because of senile dementia; another two were excluded from statistics because of growing prostheses and skeletal immaturity at the time of followup, leaving 16 (11 male, five female) for analysis. Their mean age was 26 ± 12 years (range, 11–49 years) at surgery, and the mean followup was 18 ± 7 years (range, 5–27 years). Types of sports, frequency per week, duration of each sports session as well as the UCLA and modified Weighted Activity Score were assessed retrospectively by an independent assessor a median of 18 years (range, 5.3–27 years) after surgery. Results Patients recalled that preoperatively 14 were practicing sports 5 (± 4) hours/week. At followup, 11 of the patients were practicing one or more sports activities 2 (± 3) hours/week on a regular basis. The preoperative UCLA and modified Weighted Activity Score levels of 9 and 6 fell to levels of 6 (p = 0.005) and 3 (p = 0.025), respectively, at followup. With the numbers of patients available for study, we could not determine that prosthetic failures were associated with sport activity levels. Conclusions Patients who survive primary malignant bone tumors in the proximal femur reconstructed by megaprostheses are able to perform some sports activities. The estimates of activity levels made in this study probably are best-case estimates, given that some patients were lost to followup; patients unaccounted for might not be doing as well as those represented here. Also, the degree to which sports participation influences implant durability remains, for the most part, unanswered; studies with more patients and longer followup will be needed to determine to what degree prosthesis survivorship relates to sporting activity levels. Most patients perform low-impact sports and at a lower level than they had preoperatively. Because this is a preliminary study of a select group of patients, further information is necessary to weight the benefits of higher sports activity levels against potential risks. If this can be confirmed in a larger number of patients, the information may guide surgeons in their discussion with patients preoperatively and give them some objective assessment of what to expect regarding sports activities. Level of Evidence Level IV, therapeutic study.

Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis.

Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.