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71.
Interventional catheterization of left heart lesions, including aortic and mitral valve stenosis and coarctation of the aorta 总被引:1,自引:0,他引:1
The current status of percutaneous balloon valvotomy for aortic, subaortic, and mitral stenosis and angioplasty of aortic arch obstructions are reviewed. Results from the authors and other laboratories are discussed in relation to technique and other factors such as patient age and underlying pathology. Current indications for these procedures are reviewed. 相似文献
72.
Unsworth DJ Pitcher MC Stevens S Lock RJ 《European journal of gastroenterology & hepatology》2004,16(5):471-473
BACKGROUND: Anti-tissue transglutaminase (tTG) antibody is being used increasingly as a diagnostic tool in the serological investigation of coeliac disease. However, positive predictive values of immunoglobulin A anti-tTG for coeliac disease in prospective studies have been disappointing. OBJECTIVE: To determine whether anti-tTG can arise as a non-specific consequence of abnormal gut permeability. PATIENTS: A cohort from routine investigation for possible gluten-sensitive enteropathy, with 44 cases selected based on whether permeability studies had been performed. METHODS: The cohort was assessed for anti-tTG by enzyme-linked immunosorbent assay, small-bowel biopsy and C-mannitol absorbency. RESULTS: Eighteen of the 44 patients had biopsy-proven coeliac disease and 23 showed abnormal permeability. There was poor correlation between the level of anti-tTG and gut permeability. CONCLUSIONS: These data confirm an association between anti-tTG and coeliac disease but no clear relationship with other forms of increased gut permeability. 相似文献
73.
S B Perry P Lang J F Keane R A Jonas S P Sanders J E Lock 《The American journal of cardiology》1986,58(7):622-626
Patients with left atrioventricular (AV) valve atresia or stenosis were studied retrospectively to determine the incidence of early and late failures of procedures to enlarge an interatrial communication. The 61 patients underwent 80 procedures: 5 balloon atrial septostomies, 12 blade atrial septostomies and 63 surgical septectomies. No balloon septostomy provided adequate long-term palliation. Of 12 blade septostomies, 4 resulted in gradients across the atrial septum of 5 to 8 mm Hg and 8 in gradients 3 mm Hg or less. Results from blade septostomy were unrelated to underlying diagnosis, age, gradient before the procedure, number of previous procedures, pulmonary blood flow or size of the postprocedure defect by balloon sizing, but were related to size of the postoperative defect estimated by echocardiography. Among 8 patients with gradients of 3 mm Hg or less after blade septostomy, 7 were followed 9 +/- 7 months and showed no evidence of restenosis. Of 63 surgical septectomies, 11 (17.5%) were inadequate, and in at least 7 cases the failure was due to restenosis of the defect as documented by serial catheterizations or echocardiograms. Outcome after surgical septectomy was unrelated to underlying diagnosis, age or number of previous procedures, but was related to size of the defect created. Our results reveal improved results in terms of residual gradient for blade septostomy compared with previous studies and the need to follow these patients carefully, even those undergoing surgical septectomy. 相似文献
74.
SG Lindquist M Duno M Batbayli A Puschmann H Braendgaard S Mardosiene K Svenstrup LH Pinborg K Vestergaard LE Hjermind J Stokholm BB Andersen P Johannsen JE Nielsen 《Clinical genetics》2013,83(3):279-283
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene. 相似文献
75.
Orthodeoxia-platypnea due to intracardiac shunting relief with transcatheter double umbrella closure
Michael J. Landzberg Laurence J. Sloss Chris E. Faherty Brian J. Morrison John A. Bittl Nancy D. Bridges Paul N. Casale John F. Keane James E. Lock 《Catheterization and cardiovascular interventions》1995,36(3):247-250
The safety and efficacy of transcatheter clamshell occlusion of patent foramen ovale for relief of severe arterial desaturation and dyspnea in the upright position due to intracardiac shunting were examined in eight patients with excessive risk of surgical patent foramen ovale closure. All patients had successful reduction of intracardiac shunting with an immediate rise in oxygen saturation ?95% by implantation of a clamshell device on the atrial septum. Despite two early incidents of device embolization, retrieval and immediate re-implantation, and one patient with nonsustained atrial and ventricular arrhythmias, there were no adverse clinical sequelae. In follow-up evaluation transcatheter clamshell closure of patent foramen ovale has provided persistent relief from shuntrelated arterial desaturation and symptomatology in all living patients. © 1995 Wiley-Liss, Inc. 相似文献
76.
L Fugger S A Michie I Rulifson C B Lock G S McDevitt 《Proceedings of the National Academy of Sciences of the United States of America》1994,91(13):6151-6155
Inherited susceptibility to rheumatoid arthritis is associated with genes encoding the human major histocompatibility complex class II molecule HLA-DR4. To study the immune function of HLA-DR4 and attempt to generate a murine model of rheumatoid arthritis we have produced triple transgenic mice expressing HLA-DRA*0101, -DRB1*0401, and human CD4. The expression of the HLA transgenes is driven by the promoter of the murine major histocompatibility complex class II I-E alpha gene and was found on murine cells that normally display major histocompatibility complex class II molecules. The expression of the human CD4 transgene is driven by the murine CD3 delta-promoter, and therefore its gene product was found on cells that express murine CD3. In contrast to other HLA-DR and HLA-DQ transgenic mouse lines, the transgenes are functional in our mice. In H-2 I-E-negative transgenic mice, T cells expressing variable region beta chain (V beta) 3, 5, 6, 7, 9, 11, 12, or 13 were either absent or significantly reduced, in contrast to H-2 I-E-negative nontransgenic littermates. In addition, the peptide antigen influenza A virus hemagglutinin 307-319, which binds to the HLA-DRA*0101/-DRB1*0401 heterodimer with high affinity and induces an HLA-DR-restricted and CD4+ T-cell response in humans, also induced a T-cell response in the triple transgenic mice but not in nontransgenic littermates. Thus, these transgenic mice should permit extensive testing of the antigen-presentation capabilities of the HLA-DRA*0101/-DRB1*0401 molecule. 相似文献
77.
78.
Dexamethasone resistance in B-cell precursor childhood acute lymphoblastic leukemia occurs downstream of ligand-induced nuclear translocation of the glucocorticoid receptor 总被引:6,自引:1,他引:6
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Glucocorticoids are among the most effective agents used in the treatment of childhood acute lymphoblastic leukemia (ALL), and patient response to treatment is an important determinant of long-term outcome. Despite its clinical significance, the molecular basis of glucocorticoid resistance in lymphoid malignancies is still poorly understood. We have recently developed a highly clinically relevant experimental model of childhood ALL, in which primary childhood ALL biopsies were established as xenografts in nonobese diabetic/severe combined immunodeficient (NOD/SCID) mice. The in vivo and in vitro responses of a panel of these xenografts to the glucocorticoid, dexamethasone, reflected the outcome of the patients from whom they were derived. In this report we show that glucocorticoid resistance in B-cell precursor (BCP) ALL xenografts was not due to down-regulation of the glucocorticoid receptor (GR) nor to defective ligand binding of the GR. Moreover, dexamethasone-induced GR translocation from the cytoplasm to the nucleus was comparable in all xenografts. However, glucocorticoid resistance was associated with profoundly attenuated induction of the BH3-only proapoptotic protein, Bim, when xenograft cells were exposed to dexamethasone. These results show that dexamethasone resistance in BCP ALL xenografts occurs downstream of ligand-induced nuclear translocation of the GR, but upstream of Bim induction. 相似文献
79.
Busch MP; Laycock M; Kleinman SH; Wages JW Jr; Calabro M; Kaplan JE; Khabbaz RF; Hollingsworth CG 《Blood》1994,83(4):1143-1148
Blood donations in the United States have been screened for antibody to human T-lymphotropic virus type I (HTLV-I) by HTLV-I enzyme immunoassay (EIA) since November 1988. Specimens repeatedly found to be reactive by EIA undergo confirmation by supplementary serologic tests. We assessed the accuracy of blood center testing of 994 HTLV-I EIA repeat-reactive specimens in five US blood centers between November 1988 and December 1991. Of 410 confirmed HTLV-I/II donations, 407 (99.3%) were infected with HTLV-I/II, as determined by polymerase chain reaction (PCR) (403 cases) and by repeat serologic testing (4 cases). The three false- positive results occurred in the first year of testing. Of 425 HTLV- indeterminate specimens, 6 (1.4%) were found to be infected by PCR (5 with HTLV-II and 1 with HTLV-I). None of 159 confirmatory test-negative donations was PCR positive. Of HTLV-I/II-seropositive specimens, 80.2% to 95.4% could be typed as HTLV-I or HTLV-II by type-specific serologic assays. These results support recommendations that HTLV-I/II- seropositive donors should be advised that they are infected with HTLV- I, HTLV-II, or HTLV-I/II (depending on results of type-specific assays). HTLV-indeterminate donors should be advised that their results only rarely indicate HTLV infection. HTLV confirmatory test-negative donors should be reassured that they are not infected with HTLV-I or HTLV-II. 相似文献
80.