Two cases of clear cell sarcoma with different clinical and genetic features: cutaneous type with BRAF mutation and subcutaneous type with KIT mutation.

Clear cell sarcoma (CCS), also known as malignant melanoma of soft parts, is a rare malignancy constituting approximately 1% of all soft-tissue sarcomas. It occurs predominantly in the lower extremities of young adults, manifesting as a deep, painless, slow-growing mass. CCS is sometimes confused with other types of melanoma because of its melanocytic differentiation. Although BRAF and KIT mutations are well-known melanocytic tumour-promoting mutations frequently found in cutaneous melanoma, they are rare or absent in CCS. We present two cases of CCS with different clinical and genetic features. Both female patients, aged 25 and 20 years, presented with a palpable nodule on a lower extremity. Biopsies of both tumours revealed features diagnostic of CCS. Each tumour cell was positive for S100 protein and HMB-45. However, one patient's tumour was localized to the dermis, with many multinucleated giant cells, whereas the other was located in the deep subcutaneous fat layer near bone. Fluorescence in situ hybridization demonstrated the presence of a characteristic Ewing sarcoma RNA-binding protein (EWSR)1 gene rearrangement in both cases. Reverse-transcription polymerase chain reaction (PCR) and sequencing of the PCR product revealed an EWSR1-activating transcription factor 1 type 1 fusion transcript in both cases. In addition, we detected BRAF mutation in the dermal type and KIT mutation in the subcutaneous type. It is of interest that the BRAF and KIT mutations are known to be very rare in CCS. On the basis of our observations, we suggest that mutation inhibitors may be useful in selected patients with mutated CCS lineages.

Treatment of a severe neglected valgus deformity after excision of the distal fibula for Ewing's sarcoma.

In distal fibular resection without reconstruction, the stabilising effect of the lateral malleolus is lost. Thus, the ankle may collapse into valgus and may be unstable in varus. Here, we describe a child who underwent successful staged surgical correction of a severe neglected valgus deformity after excision of the distal fibula for a Ewing's sarcoma.

Emergency recognition system based on multimodal information.

This paper aims to propose an emergency recognition system using multimodal information extracted by an image processing module, a voice processing module, and a gravity sensor processing module. Each processing module detects predefined events such as moving, stopping, fainting, and transfer them to the multimodal integration module. Multimodal integration module recognizes emergency situation by using the transferred events and rechecks it by asking the user some question and recognizing the answer. The experiment was conducted for a faint motion in the living room and bathroom. The results of the experiment show that the proposed system is robust than previous methods and effectively recognizes emergency situations at various situations.

The incidence of Perthes' disease in Korea: a focus on differences among races.

The purpose of this study was to determine the annual incidence of Perthes' disease in Korea and compare this with other populations. A survey identified all newly diagnosed children with Perthes' disease aged 14 years or younger in South Honam, Korea, between January 1999 and December 2001. A total of 84 children were included: 29 in 1999, 28 in 2000 and 27 in 2001. The mean annual incidence was 3.8 per 100 000. This is similar to that reported in other Asian countries, but higher than in black populations and lower than in Caucasians.

Partial characterization of proteins from mussel Mytilus galloprovincialis as a biomarker of contamination.

Preservation of a healthy environment is a very important task, especially in the time of the total industrial revolution. Therefore, attempts to find new additional biomarkers of contamination are welcomed. For this aim, the functional and antioxidant properties of mussel Mytilus galloprovincialis proteins and the heavy metals Cd and Pb were explored. Mussels were collected in contaminated and noncontaminated sites in the Varna area of the Bulgarian Black Sea coast. Proteins were extracted from mussel entire soft tissue and analyzed using instrumental (Fourier transform infrared [FT-IR] spectroscopy, fluorescence, atomic absorption spectrophotometry), and biochemical (2,2'-azinobis 3-ethylbenzothiazoline-6-sulfonate) radical cation [ABTS(.+)]) methods. It was found that mussel proteins from the contaminated sites had specific qualitative changes: partial unfolding of the alpha-helix, slight shift in amide I bands, increased hydrophobicity, and fluorescent intensity in native and denatured samples. In the same mussel samples, an increased radical-scavenging capacity and increased contents of Cd and Pb in entire soft tissue were registered. Therefore, the above-mentioned indices could be used as additional biomarkers of sea water contamination.

The clinical significance of tenascin-C splice variant expression in chondrosarcoma.

OBJECTIVES: Tenascin-C (TNC) is an oligomeric glycoprotein of the extracellular matrix that is prominently expressed in malignant tumors. The purpose of this study was: (1) to determine the in vitro TNC splicing pattern in cultured human chondrocytes and chondrosarcoma cells, (2) to determine the in vivo TNC splicing pattern in clinical chondrosarcoma specimens, and (3) to perform survival analysis based on the TNC splicing pattern of the tumor specimens. METHODS: Human articular chondrocytes and chondrosarcoma cells (cell line JJ012) were grown in a three-dimensional alginate bead system and harvested at two time points. Semiquantitative reverse transcription polymerase chain reaction (RT-PCR) was used to determine the in vitro TNC splicing pattern for the two cell types. Clinical chondrosarcoma specimens were obtained intra-operatively and underwent RT-PCR to determine the in vivo TNC splicing pattern. Specific immunohistochemical staining for the large TNC splice variant was performed on the clinical specimens. Survival analysis was used to determine the association between the specific TNC splicing pattern and survival. RESULTS: The in vitro mRNA expression pattern of TNC in normal human articular chondrocytes was characterized by a high ratio of the small to the large splice variant (TNC(small):TNC(large)), whereas the in vitro mRNA expression pattern for cultured chondrosarcoma cells was characterized by a low TNC(small):TNC(large) ratio. Clinical chondrosarcoma specimens with a lower TNC(small):TNC(large) ratio showed a trend towards decreased survival. The TNC splicing pattern of these specimens was verified through specific immunohistochemical staining for the large TNC isoform. CONCLUSIONS: The specific TNC splicing pattern may have clinical significance in chondrosarcoma. TNC expression may therefore play a future role in objective tumor grading and novel therapeutic approaches to this malignancy.

Clinical and radiographic outcome of femoral head fractures: 30 patients followed for 3-10 years.

The aim of this study was to evaluate the outcome of 30 femoral head fractures. We modified Pipkin's classification into 4 types: I (5 cases) small fracture of head distal to fovea centralis, which was too small or too fragmented to be fixed with screws; II (18 cases), larger fracture of head distal to fovea centralis; III (4 cases), large fracture of head proximal to fovea centralis, and IV (3 cases), comminuted fracture of head. Excision of the head fragment was done in all 5 cases of type I and in 9 type II fractures. Fixation of the head fragment was performed in 9 type II and in all 4 type III cases. The femoral head was replaced in all 3 type IV fractures. After a mean follow-up of 3-10 years, the clinical outcome, according to Epstein et al.'s critieria, were excellent in 7, good in 15, fair in 4 and poor in 1, except in type IV, and the radiographic outcome was excellent in 15, good in 7, fair in 4 and poor in 1. On the basis of our findings, we conclude that excision of the small fragment is a good choice of treatment in type 1. Early accurate reduction with stable internal fixation in type II or III permits bony union. Arthroplasty seems to be indicated in type IV.

Diffraction by a subwavelength-sized aperture in a metal plane.

We present an experimental study on the diffraction of light by an aperture small compared with the wavelength. The aperture is illuminated by laser light guided in a metal-clad tapered optical fiber. We investigate different orientations of the aperture in the plane: normal to the cleaved plane, oblique to the cleaved plane, and off-center. We measure the far-field, two-dimensional intensity distributions of the diffracted light as functions of angle coordinates theta and phi in a full half-space for various polarization states and analyze the patterns by using low-order multipole fields. We also examine the near- and far-field effects of placing small periodic corrugations near the aperture, focusing on the role of surface-wave excitations. We measure the near-field intensity distributions near the aperture with a near-field scanning optical microscope and discuss their relation to the far-field diffracted fields.

A simple regression method for determining the quantity of translated protein in a cell-free protein synthesis system.

A simple regression method for quantifying endogenous leucine in S30 extract was developed. This method enabled the quantity of translated protein in a cell-free protein synthesis system to be exactly determined.

Osteolysis in association with a total hip arthroplasty with ceramic bearing surfaces.

The results of 103 total hip arthroplasties performed with insertion of a ceramic femoral head and acetabular component in ninety-six patients were reviewed to determine the radiographic prevalence of osteolysis. After a mean duration of follow-up of ninety-two months (range, sixty to 125 months), femoral osteolysis was observed in twenty-three hips (22 per cent), in one of two distinct patterns: linear osteolysis (twelve hips) or scalloping expansile-type osteolysis (eleven hips). The most common locations of osteolysis in the femur were in zones I and VII as described by Gruen et al. Serial radiographs demonstrated that the extent of the osteolysis progressed over time. Osteolysis of the pelvis, noted in forty-nine hips, was always associated with migration of the acetabular socket. No focal osteolysis was observed in association with the stable sockets. Ten patients (ten hips) had a revision because of loosening and migration of the acetabular component. In three of these patients, the femoral stem also was revised. Gross examination revealed evidence of wear of the ceramic bearing surface in all ten patients. Scanning electron microscopy showed cracking and wear marks on the weight-bearing surface. Histological evaluation of the tissue in the periprosthetic membrane demonstrated abundant ceramic wear particles. The interface membrane was composed of a vascularized fibrous connective tissue with macrophages. Ultrastructurally, the macrophages contained numerous phagosomes of various sizes, with electron-dense material within the cytoplasm of the cell. The mean size of the ceramic particles, as determined with scanning electron microscopy, was 0.71 micrometer (range, 0.13 to 7.20 micrometers). This study supports the concept that ceramic wear particles can stimulate a foreign-body response and periprosthetic osteolysis.

Treatment of antecubital pterygium in the nail-patella syndrome.

Antecubital pterygium is rare in the nail-patella syndrome but common in the multiple pterygium syndrome and aplasia of the trochlea. It is known that there is the rebound phenomenon after treatment of congenital joint contracture. We describe the poor functional results due to rapid recurrence of the flexion contracture treated with the Ilizarov method for an antecubital pterygium in the nail-patella syndrome.