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1.
A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3. 相似文献
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T Sakamoto H Azuma Y Iwamoto N Segawa T Ubai H Noumi H Ueda Y Katsuoka 《Canadian Metallurgical Quarterly》1998,44(9):683-685
A 52-year-old male visited our department for a painless swelling from the right side of the anus to the right scrotum that he first noticed 5 years earlier. Palpation revealed a small fist-sized elastic solid mass with a smooth surface from the central area to the inferior pole of the right scrotum. This mass was clearly demarcated from the contents of the scrotum and not adherent to the scrotal skin. A diagnosis of a tumorous lesion in the scrotum was made, and the tumor was resected. Histopathological examination demonstrated a scrotal epidermoid cyst. To our knowledge, this is the 17th case reported in Japan. 相似文献
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A rare finding of unilateral heterotopia of a mandibular third molar was most probably caused by primary and total dislocation of the tooth base. Other possible causative factors, such as a lack of space between the mandibular second molar and the mandibular ramus or a disproportion between the base and the direction of growth of the third molar, have been considered in similar cases reported in the literature. 相似文献
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F Toda F Ito S Onizuka O Ryoji T Kihara N Goya H Nakazawa H Toma 《Canadian Metallurgical Quarterly》1997,43(12):875-878
A case of xanthogranuloma of the urinary bladder is reported. A 68-year-old man was referred to our hospital for the evaluation of microscopic hematuria. At that time, he did not have an abdominal tumor and ultrasonography showed no abnormality of the kidneys and the bladder wall. Two months later, he was admitted with the chief complaints of perineal discomfort and non tender fist size mass was palpable in the lower abdomen. Ultrasonography, computed tomographic scan and magnetic resonance imaging MRI demonstrated a supravesical mass which was strongly suspected as urachal tumor. Total cystectomy with urachal resection was performed. The histological diagnosis was xanthogranuloma. The patient has been in good health without recurrence, 4 years after surgery. We discuss xanthogranuloma of the urinary bladder in the literature. 相似文献
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M Baba S Ishimori S Yoshida K Kitamura N Kobayashi 《Canadian Metallurgical Quarterly》1976,4(9):873-881
Colloid cysts of the third ventricle are considered as a relatively rate benign tumor, consituting approximately 0.5% of the whole brain tumors, but the surgical cases have rarely been reported in Japan. In this paper, two cases of colloid cyst are reported and the pathogenesis, the importance of the clinical diagnosis and dramatic results after complete extirpation was emphasized. In Case 1, a 29 year-old right handed male, who showed definite symptoms of increased intracranial pressure without lateralizing signs, was diagnosed as colloid cyst of the third ventricle, and operated on with dissecting microscope on April 20, 1973. The colloid cyst was totally removed and postoperatively V-A shunt was performed for adhesive arachnoiditis. Patient did well after surgery and has returned to the previous work. In Case 2, a 41 year-old male, who suffered from sudden onset of severe headache and bouts of frequent vomiting, was admitted to Tokyo Wome's Medical College Hospital on October 11, 1974. Right cerebral angiography revealed findings of increased intracranial pressure and third ventricle tumor was suspected. On October 13, progressively disturbed consciousness occurred. Immediate ventricular tap and continuous ventricular drainage could not regain consciousness and patient expired on October 30. In necropsy, colloid cyst to the third ventricle was found. As far as these are concerned, these cysts might be reasonably said as ventricular epithelial origin in view of the operative and histological findings. Some emphasis was also made in terms of dissecting microscope in removing this tumor, completely preserving the ventricular walls as well as the terminal veins under magnification. 相似文献
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The roentgenographic features of a paramediastinal air cyst following chest trauma are reported. After an initial period of enlargement the lesion completely resolved in one month. Experience with this patient and a review of similar cases reported in the literature suggests that lesions of this type may be observed for spontaneous resolution. 相似文献
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B el Mostarchid M Tamehmacht N el Abbadi F Bellakhdar 《Canadian Metallurgical Quarterly》1997,64(7-9):492-494
A case of intradural extramedullary neurenteric cyst is reported. The embryogenesis and surgical treatment of this lesion are discussed. 相似文献
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An 8-month-old girl with a right-sided hemihypertrophy was found to have a large abdominal mass. At exploration, the mass, arising from the antero-inferior edge of the right lobe of the liver, was pedunculated and measured 17 cm x 12.5 cm x 12.5 cm. This was excised and histology confirmed it to be a benign single cyst of the liver. 相似文献
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A rare case of retroperitoneal mass identified in the pilot, aged 48, is described. There has been noted the complexity of differential diagnosis between the benign and malignant process associated with the given type of tumor which led to some problems when making an expert decision. The tumor was found to be non-removable, however, considering the good clinical state of the pilot, he was permitted of flying activity which he continues to perform successfully more than 10 years. The pilot state remains good which confirms the benign character of the process. The observation is of great interest both clinically and from the flight-surgeon's appraisal standpoint. 相似文献
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A large solitary bone cyst involving the epiphysis produced 5.0 cm shortening of the proximal humerus in a 15-year-old girl. Biopsy revealed the cyst was filled with thin yellow fluid under pressure and lined by a fibrous membrane. X-rays 9 months after biopsy demonstrated progressive cyst obliteration. A review of literature revealed no similar case. It is postulated that solitary cysts rarely may involve the physeal and epiphyseal structures and thereby retard longitudinal bone growth. 相似文献
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HLA typing was performed on 18 patients suffering from sarcoidosis and 30 patients suffering from diffuse interstitial pulmonary fibrosis. One hundred normal healthy people ethnically matched served as the controls. On statistical analysis, the corrected 'p' value of all the HLA antigens for both the patient groups was non significant. The results therefore suggest that there is no particular HLA antigen associated with sarcoidosis and diffuse interstitial pulmonary fibrosis. 相似文献
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The reactions of hydroxylamine 1-hydroxy-2,2,6,6-tetramethyl-4-oxo-piperidine hydrochloride (TEMPONE-H) with peroxynitrite, superoxide and peroxyl radicals were studied. It was shown that under these reactions TEMPONE-H is oxidized into a stable nitroxide 1-hydroxy-2,2,6,6-tetramethyl-4-oxo-piperidi-noxyl (TEMPONE). The reactivity of TEMPONE-H towards reactive oxygen species was compared with the spin traps DMPO and TMIO as well as with DMSO and SOD. The rate constants of reactions of TEMPONE-H with peroxynitrite and superoxide radicals were 6 x 10(9) M(-1)s(-1) and 1.2x10(4) M(-1)s(-1), respectively. Using TEMPONE-H the sensitivity in the detection of peroxynitrite or superoxide radical was about 10-fold higher than using the spin traps DMPO or TMIO. Thus, TEMPONE-H may be used as a spin trap in chemical and biological systems to quantify peroxynitrite and superoxide radical formation. 相似文献
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A Benslimane M Bellorini F Funck N Guillard T Lefevre 《Canadian Metallurgical Quarterly》1998,91(9):1187-1191
A case of tamponnade due to intrapericardial rupture of a recurrent bronchogenic cyst, presenting as pericarditis, is described. This case is unique because it demonstrates the possibility of rupture of a bronchogenic cyst into the pericardium and by the unusual mode of presentation. It also shows that bronchogenic cysts may recur many years after incomplete ablation. Bronchogenic cysts are benign dysembrioplasic formations characterised by their respiratory epithelial lining. The usual presentation in the adult is by haemorrhage or infection, but our case shows that recurrent pericarditis without an obvious cause may be due to bronchogenic cyst, which should be systematically excluded. The diagnosis suspected after medical imaging (chest X-ray, scanner, magnetic resonance imaging) is confirmed by histology. Total surgical ablation is the treatment of choice and may be curative. 相似文献
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T Shibahara H Kise M Kanai T Fukatsu M Fumino N Hayashi K Arima M Yanagawa J Kawamura 《Canadian Metallurgical Quarterly》1997,43(9):679-682
We report a case of xanthogranuloma of the bladder following herniorrhaphy. The patient complained of urinary frequency, residual feeling, and presented with a solid mass located on the dome of the bladder. He had undergone previous inguinal herniorrhaphy. Transurethral biopsy revealed an inflammatory change. Partial cystectomy was carried out for en bloc removal of the tumor. The histological diagnosis was xanthogranuloma of the bladder. Postoperatively, the symptoms disappeared. This is the sixth case report of xanthogranuloma of the urinary bladder and the first case following herniorrhaphy in the Japanese literature. 相似文献
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D Rosen A Wirtschafter VM Rao TO Wilcox 《Canadian Metallurgical Quarterly》1998,77(2):125, 129-125, 132
Dermoid cysts of the lateral neck are rare, with the majority of head and neck dermoids occurring in the midline. The demonstration of a fat-fluid level on MRI or CT is diagnostic for a cervical dermoid cyst. The treatment of choice remains surgical excision. 相似文献