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Mario von Depka Murtada Hassan Jan Blatn? Petr Smejkal Vladimir Vdovin 《Blood coagulation & fibrinolysis》2006,17(4):311-316
Spontaneous and surgery-associated bleeding in patients with von Willebrand disease (vWD) cannot always be controlled with desmopressin or replacement therapy. This paper presents results on the use of recombinant-activated factor VII (rFVIIa) in patients with vWD included in the internet registry Haemostasis.com. Twenty-eight reports on the use of rFVIIa in vWD were identified from the database and included in this analysis. The bleeding episodes were classified as mild (n = 7), moderate (n = 16), or severe (n = 2), and were unspecified in three cases. The median dose of rFVIIa administered was 94 microg/kg body weight (40-127.3 microg/kg). Bleeding stopped in 23 of 27 evaluable patients (85%) and markedly decreased in three patients; the total response rate was 96% (26/27 patients). Response did not correlate with the type of vWD, the site or severity of the initial bleed, or the rFVIIa dose. Other replacement therapies were infrequently used, and their use was similar in the 24 h before and after rFVIIa administration. Eighteen patients also received antifibrinolytic treatment, but its impact on response was not recorded. Only one adverse event (mild fever) was observed. These cases suggest a role for rFVIIa as a safe and effective therapy for vWD. 相似文献
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Chairat Shayakul Petr Jarolim Marie Zachlederova Daniel Prabakaran Dionisio Cortez-Campeao Dana Kalabova Alan K Stuart-Tilley Hiroshi Ideguchi Christlieb Haller Seth L Alper 《Nephrology, dialysis, transplantation》2004,19(2):371-379
BACKGROUND: Mutations in the human SLC4A1 (AE1/band 3) gene are associated with hereditary spherocytic anaemia and with distal renal tubular acidosis (dRTA). The molecular diagnosis of AE1 mutations has been complicated by the absence of highly polymorphic genetic markers, and the pathogenic mechanisms of some dRTA-associated AE1 mutations remain unclear. Here, we characterized a polymorphic dinucleotide repeat close to the human AE1 gene and performed an immunocytochemical study of kidney tissue from a patient with inherited dRTA with a defined AE1 mutation. METHODS: One CA repeat region was identified in a phage P1-derived artificial chromosome (PAC) clone containing most of the human AE1 gene and the upstream flanking region. We determined its heterozygosity value in multiple populations by PCR analysis. Genotyping of one family with dominant dRTA identified the AE1 R589H mutation, and family member genotypes were compared with the CA repeat length. AE1 and vH(+)-ATPase polypeptides in kidney tissue from an AE1 R589H patient were examined by immunocytochemistry for the first time. RESULTS: This CA repeat, previously reported as D17S1183, is approximately 90 kb upstream of the AE1 gene and displayed considerable length polymorphism, with small racial differences, and a heterozygosity value of 0.56. The allele-specific length of this repeat confirmed co-segregation of the AE1 R589H mutation with the disease phenotype in a family with dominant dRTA. Immunostaining of the kidney cortex from one affected member with superimposed chronic pyelonephritis revealed vH(+)-ATPase-positive intercalated cells in which AE1 was undetectable, and proximal tubular epithelial cells with apparently enhanced apical vH(+)-ATPase staining. CONCLUSIONS: The highly polymorphic dinucleotide repeat adjacent to the human AE1 gene may be useful for future studies of disease association and haplotype analysis. Intercalated cells persist in the end-stage kidney of a patient with familial autosomal dominant dRTA associated with the AE1 R589H mutation. The absence of detectable AE1 polypeptide in those intercalated cells supports the genetic prediction that the AE1 R589H mutation indeed causes dominant dRTA. 相似文献
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The influence of partial hepatectomy on the genotoxic effect of aflatoxin B1 (AFB1) mycotoxin in male Chinese hamsters (Cricetulus griseus) was studied after application of a single i.p. dose of 1.0 mg AFB1/kg. Changes in the fractions of proliferating bone marrow cells, values of the mitotic index of liver cells and morphologic changes in liver tissue were also monitored. Partial hepatectomy reduced significantly the mutagenic activity of AFB1 measured by the frequency of chromosome aberrations in bone marrow cells during 5 days. In hepatectomized animals AFB1 cytotoxicity was significantly reduced as evaluated by changes in the values of proliferating bone marrow cell fractions. There were no important morphologic changes in the liver. In hepatectomized AFB1 treated animals mitotic activity in liver tissue was substantially lower than in hepatectomized but AFB1 untreated animals. 相似文献
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Jan Petr Jan Kybic Michael Bock Sven Müller Václav Hlavác 《Magnetic resonance in medicine》2007,58(3):582-591
A new reconstruction method for parallel MRI called PROBER is proposed. The method PROBER works in an image domain similar to methods based on Sensitivity Encoding (SENSE). However, unlike SENSE, which first estimates the spatial sensitivity maps, PROBER approximates the reconstruction coefficients directly by B-splines. Also, B-spline coefficients are estimated at once in order to minimize the reconstruction error instead of estimating the reconstruction in each pixel independently (as in SENSE). This makes the method robust to noise in reference images. No presmoothing of reference images is necessary. The number of estimated parameters is reduced, which speeds up the estimation process. PROBER was tested on simulated, phantom, and in vivo data. The results are compared with commercial implementations of the algorithms SENSE and GRAPPA (Generalized Autocalibrating Partially Parallel Acquisitions) in terms of elapsed time and reconstruction quality. The experiments showed that PROBER is faster than GRAPPA and SENSE for images wider than 150x150 pixels for comparable reconstruction quality. With more basis functions, PROBER outperforms both SENSE and GRAPPA in reconstruction quality at the cost of slightly increased computational time. 相似文献
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This paper presents a new method for tympanum prosthesis application. The prosthesis is fixed by the interaction of magnetic pondermotive forces between two soft petals of a magnetoelastomer. This type of prosthesis was applied to 30 patients with dry perforative otitis media, aged 51-75 years. The intervention was performed in the outpatient department. Prostheses are recommended to be replaced every 3 months. These patients showed good tolerance of the treatment, which significantly improved their hearing level. The method of prosthesis fixation was reliable and atraumatic. 相似文献
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