Clinical, radiographic and biochemical characteristics of adult hypophosphatasia.

In this study, we report on clinical, radiographic and biochemical characteristics of 38 patients with adult hypophosphatasia. High-resolution peripheral quantitative computed tomography showed alterations of bone microstructure in a subgroup of 14 patients. Pyridoxal-5-phosphate levels correlated with the occurrence of fractures and the number of symptoms. INTRODUCTION: Hypophosphatasia (HPP) is a rare disorder with a wide range of clinical manifestations. A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP). The purpose of this retrospective study was to further characterize adult onset HPP. METHODS: We assessed clinical, radiographic and laboratory characteristics of 38 adult patients with HPP. Diagnosis of HPP was established by the combination of low-serum ALP, raised PLP levels and typical symptoms and was genetically confirmed in 32 patients. Dual-energy X-ray absorptiometry (DXA) and laboratory data were available in most patients. High-resolution peripheral quantitative computed tomography (HR-pQCT) was performed in 14 patients. RESULTS: Clinical characteristics included a wide spectrum of symptoms. A history of fracture was present in 15 patients (39%). Twenty-one patients (55%) complained about recurring headaches, 23 patients (61%) had recurring muscle pain, 4 patients (11%) suffered from severe muscle weakness and 18 patients (47%) showed dental abnormalities. Z-scores assessed by DXA were only slightly reduced in most adult HPP patients. HR-pQCT of 14 patients showed microstructural changes of trabecular and cortical bone compared to reference values of healthy subjects. The occurrence of fractures and multiple symptoms (>2 typical HPP symptoms) were associated with significantly elevated levels of PLP. CONCLUSION: Adult HPP presents with a wide range of clinical symptoms and is not associated with low bone mass in general. PLP seems to be a good marker for disease severity in adult patients as its level is correlated with the occurrence of fractures and number of symptoms.

[Dupuytren's contracture associated with silicone wear reaction in late failure of lunate bone spacer prosthesis]. / Silikonabriebassoziierte Dupuytren-Kontraktur bei Spätversagen einer Lunatumspacerprothese.

The pathophysiological mechanisms of palmar fibromatosis (Dupuytren's contracture) are still not yet fully understood. In the vast majority of cases, however, reactive changes and reparative processes of tendon tissue can easily be ruled out by clinical and histopathological investigations. This article presents the case of a 62-year-old male patient suffering from palmar fibromatosis associated with a failed silicon spacer of the lunate bone 30 years after index surgery. Although silicon wear particles were observed in distal locations, proximal tendon tissues showed changes consistent with a degenerative palmar fibromatosis in the absence of a pathological wear reaction. The findings are discussed in the light of the current literature on Dupuytren's contracture.

[Mechanical study of potential ceramic implant materials for minimal invasive anterior lumbar interbody fusion]. / Mechanische Untersuchung potentieller keramischer Implantatmaterialien zur minimal-invasiven anterioren lumbalen interkorporellen Fusion.

While autologous bone grafts are highly suitable for use in spinal arthrodesis, their use is also associated with problems (traumatization, complications). Ceramic bone substitute materials provide an attractive alternative for lumbar interbody spinal fusion. The aim of the present study was to investigate the mechanical properties of various types of ceramic using a specific fusion method. Ten specimens each of 7 different types of ceramic were tested using a hydraulic testing machine with two different sample holders: polyurethane foam (mechanical properties similar to cancellous bone) and aluminium. The parameters axial compression and axial torque were investigated. With the polyurethane foam holders, none of the ceramic implants failed under compression, while under axial rotation, two types of ceramic failed. With the aluminium holders, 3 ceramics showed no failure up to 25 kN under compression, while under torsion all the ceramics failed. One type of ceramic showed specific fracture properties with a higher load-bearing capacity after failure in comparison with all the other types studied.

The use of CT derived solid modelling of the pelvis in planning cancer resections.

CLINICAL PROBLEM: Resection of malignant tumors of the pelvis is demanding. To avoid disabling hemipelvectomies, years ago internal hemipelvectomy combined with partial pelvic replacements had become a surgical procedure. To achieve adequate reconstructions custom-made replacements were recommended. In early stages of the surgical procedure using megaprostheses, individual pelvic models were manufactured. AIM OF THE STUDY: Since little is known about the accuracy of such models we analysed the charts of 24 patients (25 models) for whom an individual model of the osseous pelvis had been manufactured. RESULTS: Two patients refused surgery. In 23 patients partial resection of the bony pelvis was performed followed by a partial pelvic replacement (13x), hip transposition procedure (5x), ilio-sacral resection (4x), or revision surgery. In all patients who received a partial pelvic replacement, the fit of the replacement was optimal. No major unplanned resection was necessary. The same was observed in patients who received a hip transposition procedure or an ilio-sacral resection. Oncologically, in most of the patients we achieved wide resection margins (14x). In 5 patients the margins were marginal (4x) or intralesional (1x). In two cases the aim was a palliative resection because of a metastatic disease (1x) or benign entity (1x). CONCLUSION: Pelvic models are helpful tools to planning the manufacture of partial pelvic replacements and ensuring optimal osseous resection of the involved bone. Further attempts have to be made to evaluate the aim of navigational techniques regarding the accuracy of the osseous and soft-tissue resection.

Effects on ontogenesis of Carausius morosus hit by cosmic heavy ions.

Among the biological problems that arise in long duration spaceflights, the effects of weightlessness and ionizing radiation appear to be the two main risk factors. Eggs of the stick insect Carausius morosus were exposed to spaceflight conditions during the 12.56 day Biosatellite mission Cosmos 1887. Five different ages were used, representing different sensitivities to radiation and different capacities for regeneration. During spaceflight the eggs continued their development. Already, in the Spacelab D1 mission in 1985, it has been shown that microgravity leads to a reduced hatching rate of eggs exposed during the early steps of development. When the eggs were hit by a heavy ion, a further but not significant reduction of the hatching rate was observed. Hatching was normal for eggs which were exposed on a 1 g reference centrifuge in space. Heavy ion hits caused body anomalies. The combined action of heavy ions and microgravity resulted in an unexpectedly high rate of anomalies. In the experiment on Cosmos 1887 these results were confirmed. Studies on the embryonic development before hatching showed no major difference between flight and ground control specimen, neither in speed of development nor in morphological anomalies. Hatching therefore seems to be the critical point in insect ontogenesis.