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1.
BACKGROUND CONTEXT: Diastematomyelia is a split-cord malformation often accompanied by other cord or column anomalies. PURPOSE: To report on an adult patient with diastematomyelia and discuss the embryological basis and related developmental sequelae of this split-cord malformation. STUDY DESIGN: Case report. METHODS: A summary of the management of a 54-year-old woman with recent clinical symptomatology related to an undiagnosed split-cord malformation is presented with accompanying literature review. RESULTS: A rare adult presentation of diastematomyelia with accompanying intradural extramedullary epidermoid tumor was repaired with resection of the soft-tissue mass and excision of the fibro-osseous septum. CONCLUSION: Initial presentation of diastematomyelia is rarely seen in adults; accompanying pathology includes scoliosis, tethered cord, and intradural tumors. Effective treatment involves identification of the primary pathology. 相似文献
2.
碱性成纤维细胞生长因子受体基因在牛眼晶体上皮细胞内的表达 总被引:1,自引:0,他引:1
目的探讨碱性成纤维细胞生长因子(basicfibroblastgrowthfactor,bFGF)对晶体上皮细胞促增殖作用的机理。方法从培养的第二代牛眼晶体上皮细胞提取RNA,经逆转录反应合成cDNA。借助从人体胎盘纤维细胞bFGF受体序列合成的寡核苷酸引物,聚合酶链反应体外扩增cDNA。扩增的cDNA片段克隆后,Sanger双脱氧链终止法测定其序列。结果探测出牛眼晶体上皮细胞bFGF受体的mRNA,测序后发现其氨基酸序列片段中仅3个氨基酸与人体不同。结论晶体上皮细胞存在bFGF受体,当bFGF与其受体结合后,对促进晶体上皮细胞的增殖以及白内障术后后囊混浊具有重要作用。 相似文献
3.
Akio Sakamoto Tatsuya Yoshida Hidetaka Yamamoto Yoshinao Oda Masazumi Tsuneyoshi Yukihide Iwamoto 《Journal of orthopaedic science》2007,12(4):361-365
Background Congenital pseudarthrosis of the tibia (CPT) is frequently, but not always, associated with neurofibromatosis type 1 (NF1).
Double inactivation of the NF1 gene has been reported to be the pathogenesis of CPT in NF1 cases.
Methods We analyzed the loss of heterozygosity (LOH) of the NF1 gene in cases of CPT with NF1 to examine whether double inactivation was seen in the case. In addition to morphological analysis,
immunoexpression of differentiation markers was examined.
Results and discussion The tibia tapered with the zone phenomenon from mature to immature bone with osteoblastic rimming, resembling osteofibrous
dysplasia. Osteosclerotic bowed bone with a small number of osteoclasts suggested dysfunction of bone remodeling. Fibrous
tissue at the site of pseudarthrosis was associated with the periosteum and demonstrated myofibroblastic differentiation accompanied
by massive cartilage formation, suggesting some misdirection during the differentiation of periosteum to myofibroblasts or
chondrocytes. LOH of the NF1 gene locus was not seen in fibrous tissue. This result suggests that CPT is not accompanied by double inactivation in every
NF1 case. 相似文献
4.
Shohachi Suzuki Satoshi Nakamura Hideki Ishida Takanori Sakaguchi Atsushi Serizawa Hiroyuki Konno Shozo Baba Hiroyuki Muro Isao Kosugi Eisaku Gu 《Surgery today》1996,26(8):635-639
Hepatic angiomyolipoma is a rare tumor composed of spindle-shaped and epithelioid smooth muscle cells, adipose tissue, and proliferating blood vessels. We report the first documented case of this tumor developing in a patient with ulcerative colitis. A solitary tumor (7.5×7.5×7cm) was detected in the left lateral segment of the liver and a left hepatic lobectomy was performed. The diagnosis of angiomyolipoma was confirmed by a pathological examination. We also review the literature on previously reported cases of hepatic angiomyolipoma. 相似文献
5.
Kei Matsuzaki Ken Ishihara Yoshinao Shinohara Taiichi Kanai 《Macromolecular chemistry and physics.》1986,187(9):2199-2208
Oligostyryllithium was synthesized by the reaction of sec-butyllithium with styrene in diethyl ether at ?40°C. Dimer model anions (counter cations: Li and K) of the growing chain ends were synthesized by metallation of 1-methoxy-1,3-diphenylpropane. The structures of the lithium compounds were corroborated by 13C NMR spectroscopy and compared with those of the potassium compounds. As for polystyryllithium and its model compounds, the charge density on the α-carbon increased and that on the phenyl ring of the growing end decreased with increasing molecular weight, while, in polystyrylpotassium and its model compounds, the charge density on the α-carbon increased and the one on the phenyl ring did not change with increasing molecular weight. The temperature change of the 1H NMR spectrum of oligostyryllithium in diethyl ether indicated rotation around the C-1? Cα bond at lower temperatures than in tetrahydrofuran, but the activation energy was the same in both solvents. T1 values of the phenyl carbons in model compound 2b were one to two orders of magnitude shorter than those of the protonated compound. 相似文献
6.
Yoshinao Oda Masazumi Tsuneyoshi Hiroshi Hashimoto Toshimitsu Iwashita Masahiro Ushijima Sachio Masuda Yukihide Iwamoto Yoichi Sugioka 《Virchows Archiv : an international journal of pathology》1993,423(1):65-69
Primary rhabdomyosarcoma of bone is exceedingly rare. We present a case of rhabdomyosarcoma of the iliac bone in a 32-year-old male. Histologically, the tumour consisted mainly of a uniform proliferation of elongated spindle cells arranged in a herring bone pattern, simulating fibrosarcoma. Focally there was a conventional embryonal pattern with scattered rhabdomyoblasts possessing an eosinophilic cytoplasm. Immunohistochemical studies disclosed expression of muscle markers such as desmin and muscle-specific actin, in both the embryonal and spindle-cell areas and myoglobin only in the embryonal areas. Such histological features are unusual for classical embryonal rhabdomyosarcoma. The anatomical site and age of the patient are also atypical. 相似文献
7.
Atsuko Iwasa Yoshinao Oda Shuichi Kurihara Yoshihiro Ohishi Masafumi Yasunaga Izumi Nishimura Emi Takagi Hiroaki Kobayashi Norio Wake Masazumi Tsuneyoshi 《Pathology international》2008,58(12):757-764
Ovarian mature cystic teratomas (MCT) uncommonly undergo malignant transformation to squamous cell carcinoma (SCC). While alterations in the p53 tumor suppressor gene and protein have been shown, few studies have analyzed other molecular changes leading to this malignant conversion. The purpose of the present study was to investigate 21 samples of SCC arising in MCT for altered expression in known p53‐ and p16/Rb‐dependent cell cycle regulatory proteins, and the association between their expression and cellular proliferation and histological features. Overexpression of the p53 protein was observed in 14 SCC (67%), while four (19%) had point mutations in the p53 gene. Reduced expression of the p16 protein was observed in 18 SCC (86%), while p16 gene alterations (hypermethylation (29%) and point mutation (33%)) were found in 11 (52%). Furthermore, a statistically significant correlation was observed between p53 and Rb overexpression (P = 0.0010), and the overexpression of both p53 and Rb was respectively significantly correlated with increased cellular proliferation. The results indicate that alterations in both the p53 and p16‐Rb pathways are associated with SCC arising in MCT. 相似文献
8.
9.
Kawaguchi K Oda Y Saito T Yamamoto H Tamiya S Takahira T Miyajima K Iwamoto Y Tsuneyoshi M 《The Journal of pathology》2003,201(3):487-495
The p16INK4a tumour suppressor gene, encoding p16 protein, plays a crucial role in regulation of the G1 cell-cycle phase. To investigate the potential role of p16 in soft tissue leiomyosarcoma (LMS), an immunohistochemical analysis was performed of 77 LMSs for p16 expression. Decreased expression of the p16 protein was identified in 25 of 77 LMSs (32%). Decreased expression of p16 correlated significantly with large tumour size (p=0.0038). In a univariate analysis, large tumour size and decreased expression of p16 were statistically significant adverse prognostic factors (p=0.025 and p=0.0021, respectively). In a multivariate analysis including conventional clinicopathological parameters, decreased expression of p16 protein was revealed as the only independent unfavourable prognostic factor (p=0.012). To elucidate the mechanisms of inactivation of the p16INK4a gene, 49 LMSs for which genomic DNA was available were examined; analysis for homozygous deletion, mutation, and promoter hypermethylation was conducted using differential PCR, PCR-SSCP, and methylation-specific PCR, respectively. Promoter hypermethylation was detected in 11 of 49 LMS cases (22%); homozygous deletion was detected in 3 of 49 cases (6%); and mutation was not recognized in any of the cases studied. Eight of 15 cases (53%) with decreased expression of p16 protein revealed methylation of the p16INK4a gene promoter. Promoter hypermethylation correlated closely with decreased expression and poor prognosis (p=0.0014 and p=0.0088, respectively). These results suggest that decreased expression of p16 protein can be considered as an independent reliable prognostic parameter in patients with soft tissue LMS. Furthermore, promoter methylation was more frequent than either homozygous deletion or mutation in this tumour, and promoter methylation was also shown to have a strong association with inactivation of the p16INK4a gene. 相似文献
10.
Saito T Oda Y Tanaka K Matsuda S Sakamoto A Yamamoto H Iwamoto Y Tsuneyoshi M 《Pathology international》2003,53(2):115-120
We present the clinical, radiographical and pathological features of low-grade fibrosarcoma of the left proximal humerus in a 23-year-old man in whom it was necessary to distinguish the tumor from desmoplastic fibroma, malignant fibrous histiocytoma and intramedullary well-differentiated osteosarcoma. The patient presented with a 10-day history of pain in his left upper arm sustained when trying to break his fall with his left hand when slipping in the street. Plain radiography revealed an expanding multilobular osteolytic lesion from the proximal metaphysis to the diaphysis of his left humerus, accompanied by a pathological fracture at the distal portion of the lesion. Open biopsy of the lesion was performed twice; however, a conclusive diagnosis could not be obtained. The patient underwent wide excision and prosthetic replacement of the left proximal humerus. Histologically, the resected tumor was composed of both cellular areas and hypocellular areas. Cellular areas revealed a proliferation of bundles of uniform fibroblastic spindle-shaped cells with minimal cellular atypia, mixed with abundant intercellular collagenization. Mitotic figures were occasionally seen. Hypocellular areas showed myxoid features with loose bundles of collagen fibers. The patient demonstrates no evidence of disease 42 months after surgery. It is important to detect the scant atypical cells for the differential diagnosis of low-grade fibrosarcoma and desmoplastic fibroma of bone. 相似文献