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Nuclear pre-mRNA splicing necessitates specific recognition of the pre-mRNA splice sites. It is known that 5' splice site selection requires base pairing of U6 snRNA with intron positions 4-6. However, no factor recognizing the highly conserved 5' splice site GU has yet been identified. We have tested if the known U6 snRNA-pre-mRNA interaction could be extended to include the first intron nucleotides and the conserved 50GAG52 sequence of U6 snRNA. We observe that some combinations of 5' splice site and U6 snRNA mutations produce a specific synthetic block to the first splicing step. In addition, the U6-G52U allele can switch between two competing 5' splice sites harboring different nucleotides following the cleavage site. These results indicate that U6 snRNA position 52 interacts with the first nucleotide of the intron before 5' splice site cleavage. Some combinations of U6 snRNA and pre-mRNA mutations also blocked the second splicing step, suggesting a role for the corresponding nucleotides in a proofreading step before exon ligation. From studies in diverse organisms, various functions have been ascribed to the conserved U6 snRNA 47ACAGAG52 sequence. Our results suggest that these discrepancies might reflect variations between different experimental systems and point to an important conserved role of this sequence in the splicing reaction.  相似文献   

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An unusual case of synovial chondromatosis of the temporomandibular joint with intracranial extension, which resulted in complete dehiscence of the floor of the middle cranial fossa, is reported. An overview of the current literature and a discussion of the diagnosis and surgical management of synovial chondromatosis are presented.  相似文献   

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We report two cases of children with multiple hereditary osteochondromatosis (MHO) in whom painful restriction of hip movement developed due to intraacetabular osteochondromata. Excision of the lesions relieved pain and restored joint movement after 14 and 3 months' follow-up, respectively. Long-term follow-up of these patients is essential.  相似文献   

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A 31-year-old woman presented with painful swelling in the right paravertebral region that had been present for 2 years. Radiography and CT revealed an area of increased density due to multiple calcifications localized at the fourth lumbar vertebra. Histological examination revealed that the lesion consisted of nodules of hyaline cartilage, with focal areas of calcification, growing within synovial tissue.  相似文献   

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The most definitive method for confirming the diagnosis of synovial chondromatosis is the identification of cartilaginous metaplasia within the synovium on histologic examination. In advanced stages of the disease, plain radiographs and magnetic resonance imaging (MRI) scans demonstrate calcified and cartilaginous bodies, respectively, but in earlier stages, plain radiographic findings may be normal and MRI scans may reveal only nonspecific increased fluid. Although rare in the wrist, synovial chondromatosis must be considered in the differential diagnosis in a patient presenting with pain and swelling of the distal radioulnar joint. Surgical exploration of the joint and synovectomy, alone or in combination with removal of loose bodies, is the recommended treatment.  相似文献   

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Determination of synovial fluid (SF) lactic acid has been suggested to be an unspecific indicator of SF leukocytosis, and it is not recommended for differential diagnosis of bacterial arthritis. We analyzed the L-lactic acid content by enzymatic UV-method in 65 SF samples obtained from adult patients with acute knee arthritides. The concentration of L-lactic acid was not high in any SFs with intensive leukocytosis. The mean concentration of L-lactic acid was 13.5 mmol/l (95% confidence intervals 9.4; 17.6 mmol/l) in the synovial-fluid samples from culture-positive arthritis and 5.5 mmol/l (4.9; 6.2 mmol/l) in the synovial-fluid samples from culture-negative arthritis. Determination of SF L-lactic acid is an important part of the diagnostic setup for acute arthritis. Values > 9 mmol/l strongly support occurrence of bacterial arthritis and indicates an immediate onset of the treatment.  相似文献   

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OBJECTIVES: To identify the reasons for non-compliance with fecal occultblood test in the screening programme for colorectal cancer. DESIGN AND SETTING: The people who had never participated in the screening programme for colorectal cancer served as the subjects of this study. A structured questionnaire which included the reasons for rejection was sent to each of non-compliers. They were requested to choose two major reasons which were described in a best way that why they did not participate in the programme. The frequency of the stated reasons were analysed from the viewpoint of both sex and age effects. MAIN RESULTS:A total of 439 people was identified as non-compliers, and 356 (81.1%) people completed the questionnaire. No significant difference was noted in response to the questionnaire between male and female as well as aged 40-59 and those 60-79. The most commonest reason was felt well (47.8%) in male, fear or shyness of further examination (40.2%) in female, and also felt well (48.5%) in aged 40-59, fear or shyness of further examination (40.1%) in aged 60-79. Significant differences were observed in the frequencies of felt well (p<0.01), fear or shyness of further examination (p<0. 01), busy for work (p<0.01) and fear of cancer (p<0.01) between male and female, and also felt well (p<0.01), fear or shyness of further examination (p<0.01), busy for work (p<0.01) and coexistent disease (p<0.01) between aged 40-59 and those 60-79. CONCLUSIONS: These results suggest that public education about the concept of asymptomatic illness, the benefits of early detection, the safety and painless colonoscopy, and the effective treatment should be emphasised to increase compliance with screening for fecal occult blood.  相似文献   

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Although the zygomatic arch can be employed as a key landmark to the accurate alignment of a displaced malar fracture, it has been traditionally avoided because of the need for a bicoronal incision. Exposure of the zygomatic arch by means of the conventional bicoronal incision has several possible disadvantages, including an increased risk of blood loss, alopecia, loss of sensation posterior to the incision, and traction palsy of the facial nerve. Endoscopic-assisted exposure of a zygomatic arch can largely obviate the disadvantages of a bicoronal incision and yield this site accessible to reduction and fixation in the routine treatment of displaced malar fractures. A case of endoscopic-assisted open reduction and internal fixation of a moderately displaced malar fracture is presented. In particular, exposure and fracture fixation of the zygomatic arch were performed without the need for a bicoronal incision.  相似文献   

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Differences between the type B neurotoxin gene sequence of Clostridium botulinum type A(B) and Cl. botulinum type B, including a six nucleotide deletion, were recently proposed as a cause of the lack of expression of this gene in the type A toxigenic strains. A polymerase chain reaction (PCR) based on two sets of primers was designed to investigate the absence of the 6-nucleotide sequence in the apparently unexpressed type B toxin gene of 42 strains of Cl. botulinum type A(B). Thirty-five strains were shown to exhibit a deletion in their type B toxin gene; two strains did not have the deletion and actually produced small amounts of type B toxin when tested by the mouse bioassay. This two-step PCR might be useful for the rapid determination of the presence of the six nucleotide deletion and consequently, whether the type B toxin is likely to be produced.  相似文献   

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We report on a 23-year-old woman with a poorly differentiated synovial sarcoma on the palm of her hand which presented as a painless nodule. The MRI findings are presented along with the clinical and pathologic features. Because of similar morphological features, these tumors can be confused with benign lesions such as aggressive fibromatosis or ganglion cysts, especially when very small. The possibility of a synovial sarcoma mimicking a benign lesion needs to be considered when the mass does not have an unequivocal benign diagnosis on MR imaging. Following wide resection and reconstruction, our patient has been disease free with good function for 28 months.  相似文献   

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Synovial sarcoma     
Synovial sarcoma is a rare soft tissue tumor of children and adults that is unrelated to synovium and can occur in almost any part of the body. The familiar biphasic synovial sarcoma has discernible glandular or solid epithelial structures, and monophasic forms have characteristic ovoid or spindle cells with only immunohistochemical or ultrastructural evidence of epithelial differentiation. There are several morphologic patterns, including myxoid and hemangiopericytic, and behaviorally distinct calcifying, ossifying, and poorly differentiated subtypes can be recognized. Most synovial sarcomas are immunoreactive for cytokeratin, epithelial membrane antigen, and bc12 protein, and negative for CD34, and many express S100 protein and CD99 (MIC2). Nearly all synovial sarcomas have a specific t(x;18) (p11.2;q11.2) chromosomal abnormality, resulting in fusion of either of two variants of the SSX gene with the SYT gene; the genetic features may relate to morphology and outcome. The differential diagnosis can include a wide range of spindled, polygonal, or round cell sarcomas. Clinically, there have been marked recent improvements in local control of disease and lesser ones in management of metastases. The pathology, differential diagnosis, and behavior of this unique tumor are reviewed.  相似文献   

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While awareness of synovial rupture of the knee joint confirmed by early arthrography increases, concomitant deep-vein occlusion may be being overlooked. Two cases of this are described, illustrating different mechanisms of venous occlusion by synovial rupture. Early thrombosis occurred in one patient from direct pressure as a result of haematoma following anticoagulant therapy and in another due to presumed external irritation of the vein. Although isolated bursae do not apparently rupture, tendon sheaths occasionally do. An example of lateral popliteal mononeuritis as a result of rupture of a tense peroneal tendon sheath is also given. Synovial rupture is primarily a clinical diagnosis but in selected cases, deep calf venography may be useful rather than arthrography. Almost a century ago, William Morrant Baker published his work on synovial protrusions showing his awareness of the consequences of free fluid in the calf. Some comments are made on his life and work.  相似文献   

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The main aim of reductive surgery for breast hypertrophy has often been the aesthetic result without considering on the cutaneous sensitivity. This retrospective analysis studied the subjective and objective sensitivity after mammoplasty reduction 44 patients. The preoperative results showed a reduction of sensitivity directly proportional to the ptosis. After surgery the patients described an improvement of the sensibility, especially in the case of moderate resection. This study shows the good restoration of nerve fibers after chronic stretching due to hypertrophy. Nerve fibres were restored when areolar graft was used.  相似文献   

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Data indicate that the synovial lining of the temporomandibular joint (TMJ) in some respects differs from other joints. The normal variation in morphology of the synovial lining of the TMJ is quite great, whereas the variation in pattern of pathologic changes appears to be relatively small (ie, synovial inflammation is not of the severity as that in other joints). In the current review, a system for histologic grading of synovial inflammation is proposed. The system is based on semiquantitative evaluation of the following set of parameters: 1) synovial lining cell layers; 2) vascularity (number or size of vascular profiles); and 3) Inflammatory cell infiltrate (commonly lymphocytes).  相似文献   

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A synovial sarcoma (SS) is an uncommon malignant soft-tissue tumor, which in spite of its name does not arise from synovial tissue. It is so named because of its histologic similarity to synovium. An SS originates from mesenchyme, not from synoviocytes and usually manifests as a biphasic tumor with both malignant-epithelial and spindle-cell components. Monophasic epithelial and spindle-cell presentations may cause a diagnostic dilemma. Diagnosis should include immunocytochemistry using cytokeratin and/or epithelial membrane antigen; vimentin further helps to eliminate any histologic confusion. These tumors are most commonly found in the extremities. When located near a joint, invasion occurs only by secondary extension. Rarely are SSs found in the neck, especially in the posterior aspect, as reported here.  相似文献   

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