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21.
22.
Margaret J Bowers Nick J Orr Si Dempsey H Denis Alexander 《Blood coagulation & fibrinolysis》2006,17(5):409-411
We present a case of Bernard Soulier syndrome in a 9-year-old boy caused by a novel genetic mutation. This child was shown to be homozygous for a single nucleotide deletion (c.1077delG) in the GP1BA gene not previously reported. Clinically, the boy has become refractory to platelet transfusions with both allo-antibodies and iso-antibodies and a massive transfusion requirement for ongoing haemorrhage. We describe the critical role that the blood product transfusion continues to play in the management of Bernard Soulier syndrome and discuss therapeutic options in these patients. 相似文献
23.
Roberto Civitelli M.D. Eturo Ogata Louis V. Avioli Gary Stein Samuel Edelstein John A. Eisman Yasuho Nishii Hajime Orimo Jane Lian Takuo Fujita Yasufumi Hayashi Shigeaki Kato Tadashi Kobayashi Hirotoshi Morii Rikushi Morita Toshitaka Nakamura Yoshiki Seino Masataka Shiraki Tatsuo Suda Naoyuki Takahashi Hideaki Takahashi Tastuhiko Tanisawa Akifumi Tokita 《Calcified tissue international》1995,57(6):409-414
24.
25.
Familial Sneddon's syndrome 总被引:4,自引:0,他引:4
Alexander Lossos Tamir Ben-Hur Ziva Ben-Nariah Claes Enk Moshe Gomori Dov Soffer 《Journal of neurology》1995,242(3):164-168
We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis. 相似文献
26.
Intracranial actinomycosis in juvenile patients
Case report and review of the literature 总被引:1,自引:0,他引:1
F. Puzzilli Maurizio Salvati Andrea Ruggeri Antonino Raco Roberto Bristot Stefano Bastianello Pierpaolo Lunardi 《Child's nervous system》1998,14(9):463-466
A case of actinomycotic brain infection in a juvenile patient is described. Cases of actinomycosis affecting the head and
neck are rare, particularly in juvenile patients. In this case complete resolution of the infection was achieved by means
of surgical treatment and prolonged antibiotic therapy. The authors emphasize the importance of a combined approach for treatment
of this unusual brain infection and stress the difficulties involved in the diagnosis of this pathology.
Received: 3 November 1997 相似文献
27.
28.
Maria Cristina Locatelli Lucilla Tedeschi Maurizia Clerici Antonella Romanelli Adelaide D'Antona Roberto Labianca Gino Luporini 《Supportive care in cancer》1996,4(3):218-219
We have reviewed the incidence of cisplatin-induced anaemia in patients affected with solid tumours treated with at least three courses of first-line cisplatincontaining regimens. In our experience, a low percentage (5%) of patients required transfusions of red blood cells. We think it is of the utmost importance to adopt uniform criteria in monitoring and treatment of patients at risk of developing cisplatin anaemia and to identify subsets of patients to eventually treat with erythropoietin. 相似文献
29.
Enza-Maria Valente Anjum Misbahuddin Francesco Brancati Mark R Placzek Barbara Garavaglia Sergio Salvi Andrea Nemeth Charles Shaw-Smith Nardo Nardocci Anna-Rita Bentivoglio Alfredo Berardelli Roberto Eleopra Bruno Dallapiccola Thomas T Warner 《Movement disorders》2003,18(9):1047-1051
The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases. 相似文献
30.
Mariana Diniz Bisi Santos Arthur Braga Pfeifer Marcos Rogério Pupo Silva Claudio Luiz Sendyk WIlson Roberto Sendyk 《Journal of applied oral science : revista FOB》2007,15(2):148-151
One of the causes of implant failures in cemented implant-retained prostheses is the fracture of abutment screw or UCLA abutment. This article reports a case of simultaneous fracture of two UCLA abutments screws occurring in an implant-supported prosthesis placed in the mandibular molar region. The fractured structures were examined under scanning electron microscopy to investigate the probable causes of the failure, which were not related to failures on materials or fabrication of the screws, but rather were due to shear forces. The misfit in cemented prostheses may be the most likely cause of shear force generation. 相似文献