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We describe in this paper a female patient affected by chronic granulomatous disease with all the features of the classic X-linked form of the disease and presenting a mild form of the disease, the major clinical manifestation being a granulomatous cheilitis. The capability of the patient's phagocytes to undergo a respiratory burst in response to different stimuli was markedly depressed and only 10% of the patient's neutrophils were able to reduce nitroblue tetrazolium when stimulated with phorbol myristate acetate to an extent similar to normal cells. With this test, the neutrophils of the patient's mother showed a clear mosaicism, only 40% being able to reduce the dye. Activation of NADPH oxidase in cell-free systems showed that the phagocyte defect was at the level of a membrane component. Difference in spectra revealed that the observed membrane defect was due to a lack of cytochrome b558, the terminal component of NADPH oxidase. Incubation for 2 or 24 h of the patient's neutrophils with human recombinant interferon-gamma and granulocyte macrophage colony-stimulating factor did not correct their defective capability to undergo a respiratory burst However, cultivation of the patient's monocytes with interferon-gamma for prolonged times substantially enhanced their capability to produce hydrogen peroxide. 相似文献
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Norton GR Majane OH Maseko MJ Libhaber C Redelinghuys M Kruger D Veller M Sareli P Woodiwiss AJ 《Hypertension》2012,59(4):885-892
Central aortic blood pressure (BP; BPc) predicts outcomes beyond brachial BP. In this regard, the application of a generalized transfer function (GTF) to radial pulse waves for the derivation of BPc is an easy and reproducible measurement technique. However, the use of the GTF may not be appropriate in all circumstances. Although the peak of the second shoulder of the radial waveform (P2) is closely associated with BPc, and, hence, BPc may be assessed without the need for a GTF, whether P2-derived BPc is associated with adverse cardiovascular changes independent of brachial BP is uncertain. Thus, P2- and GTF-derived aortic BPs were assessed using applanation tonometry and SphygmoCor software. Left ventricular mass was indexed for height(1.7) (n=678) and carotid intima-media thickness (IMT; n=462) was determined using echocardiography and vascular ultrasound. With adjustments for nurse-derived brachial pulse pressure (PP), P2-derived central PP was independently associated with left ventricular mass indexed for height(1.7) (partial r=0.18; P<0.0001) and IMT (partial r=0.40; P<0.0001). These relations were similar to nurse-derived brachial PP-independent relations between GTF-derived central PP and target organ changes (left ventricular mass indexed for height(1.7): partial r=0.17, P<0.0001; IMT: partial r=0.37, P<0.0001). In contrast, with adjustments for central PP, nurse-derived brachial PP-target organ relations were eliminated (partial r=-0.21 to 0.05). Twenty-four-hour, day, and night PP-target organ relations did not survive adjustments for nurse-derived brachial BP. In conclusion, central PP derived from P2, which does not require a GTF, is associated with cardiovascular target organ changes independent of brachial BP. Thus, when assessing adverse cardiovascular effects of aortic BP independent of brachial BP, P2-derived measures may complement GTF-derived measures of aortic BP. 相似文献
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Agustin Avilés Sergio Cleto Claudia Castañeda Maria Jesús Nambo 《Hematology (Amsterdam, Netherlands)》2013,18(3):241-244
Introduction: Nasal natural killer (NK) cell lymphoma that showed distant metastases generally showed an poor prognosis. We described a group of patients with these atypical presentation and that were treated with an intensive, short chemotherapy/radiotherapy regimen. Methods: Sixty-one patients fulfilled the criteria for NK cell lymphoma with distant metastases and all have very poor prognostic factors: high clinical risk, multiple extranodal presentation and bulky disease (tumor mass >10 cm). They were treated with CMED (cyclophosphamide 2000 mg/m2, iv, day 1, methotrexate 400 mg/m2, iv, day 1(with leucovorin rescue), etoposide 400 mg/m2 twice and dexametasone 40 mg daily for 4 days). If complete response (CR) was observed, they were received adjuvant radiotherapy (50 Gy) to nasal region. Patients with failure were treated with different salvage treatments. Results: Forty nine patients achieved CR and 12 were considered failure, all patients that were failure and nine that relapse die secondary to tumor progression. Median follow-up were 46 months (range 34-68 months). Median has not been observed in relapse-free survival (RFS) and overall survival (OS). Actuarial curves at 5 years showed that RFS was 81% and OS was 65%. Treatment was well tolerated. Conclusions: Nasal NK cell lymphoma with distant metastases is considered an rare clinical entity, probably is under diagnosis because it has been included as stage III and IV in previous reports, that showed an very poor RFS and OS. The treatment herein report could achieve good response and outcome, but it is evident that more specific and aggressive therapy is necessary in these setting of patients. 相似文献
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Phase II trial of interferon-alpha-2a plus psolaren with ultraviolet light A in patients with cutaneous T-cell lymphoma 总被引:5,自引:0,他引:5
Chiarion-Sileni V Bononi A Fornasa CV Soraru M Alaibac M Ferrazzi E Redelotti R Peserico A Monfardini S Salvagno L 《Cancer》2002,95(3):569-575
PURPOSE: To evaluate the efficacy and side effects of psolaren with ultraviolet light A (PUVA) and interferon-alpha-2a (IFN-alpha-2a) in patients with mycosis fungoides (MF) and Sézary syndrome (SS). PATIENTS AND METHODS: From May 1993 to January 1999, 63 symptomatic patients with all stages of MF and SS were treated in a prospective Phase II trial with systemic escalating doses of IFN-alpha-2a combined with PUVA for 1 year, followed by indefinite PUVA maintenance in complete responding patients. RESULTS: Sixty-three patients were enrolled (Stage IA, n = 6; IB, n = 37; IIA, n = 3; IIB, n = 3; III, n = 12; IVA, n = 2). Ten patients had received previous therapy. The median follow-up duration for the entire cohort is 37 months. Of 63 patients, 51 achieved a complete response (CR; 74.6%) or partial response (PR; 6%) to therapy. The median response duration is 32 months. The 5-year overall survival rate is 91% and the 5-year disease-free survival rate is 75%. No life-threatening side effects were observed. Five patients stopped IFN-alpha-2a therapy due to toxicity. Eighty-four percent of the patients received more than 75% of the planned dose (12 million units three times a week). CONCLUSIONS: This combination of IFN-alpha-2a and phototherapy is an effective and safe therapy for patients with symptomatic MF. 相似文献
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Presence of second neoplasms and cardiac toxicity has been recognized as potential late lethal second events in patients treated for Hodgkin's disease. However, most reports analyze these association independently. We reviewed 2980 cases of patients treated during 1970-1995 with long-term follow-up (> 4 years) in an attempt to identify all late events in Hodgkin's disease secondary to the treatment or those which are unrelated. Three hundred and ten patients died, and of these 156 were secondary to relapse and tumor progression. Death associated second tumors and cardiac events were increased 37 fold and 29 fold respectively compared to the general population. The risk factors for this complications did not differ to previous reports and included alkylating agents and/or radiotherapy for second neoplasms and anthracycline therapy and radiotherapy for cardiac toxicity. Moreover, 61 patients died secondary to non-related events. Nevertheless, at 20-years overall survival was 90 % (95 % confidence interval (CI): 78 % to 97 %) and event free survival was 88 % (95 % CI: 76 % to 96 %) for these patients. Thus, second events, fatal in most cases, should be considered as an expected risk to the treatment in patients with Hodgkin's disease; the proposed modifications of therapy may indeed be useful to avoid or diminish these complications in the future. 相似文献
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Amato D Alvarez-Aguilar C Castañeda-Limones R Rodriguez E Avila-Diaz M Arreola F Gomez A Ballesteros H Becerril R Paniagua R 《Kidney international. Supplement》2005,(97):S11-S17
BACKGROUND: The present study was primarily designed to assess the prevalence of chronic kidney disease in a Mexican urban population residing in Mexico and to evaluate certain biologic and socioeconomic conditions as risk factors for the development of renal disease. METHODS: A population-based cross-sectional survey was conducted, which included 3564 patients of either gender aged >18 years, who were randomly selected from lists of patients assigned to primary care facilities in the city of Morelia. A questionnaire about personal current health status, kidney disease, diabetes, hypertension, or heart disease in close relatives, anthropometric and blood pressure measurements, and blood and urine samples to measure glucose, blood urea nitrogen, and creatinine was obtained for each patient. Creatinine clearance (Ccr) was calculated by the Cockcroft-Gault formula. Patients were classified in 1 of the 5 Ccr categories established by the Kidney Disease Outcomes Quality Initiative guidelines. RESULTS: The prevalence rate of Ccr < 15 mL/min was 1142 per million population, and that of Ccr <60 mL/min 80,788 per million population. Alcohol and tobacco consumption, female gender, age >65 years, educational level < primary school, and income < US $4.00/day were significantly associated with reduced Ccr. CONCLUSION: Chronic kidney disease prevalence in this population is similar to that seen in industrialized countries. If these figures are similar to those of the entire Mexican population, only l out of 4 patients requiring renal replacement therapy in the country currently has access to it. 相似文献
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OBJECTIVE: Low visual acuity (VA) is an important public health problem due to its high prevalence and because it needs early diagnosis in order to prevent damage in childhood development and apprenticeship. To describe and analyze low visual acuity (VA) prevalence among school children. METHODS: Once performed the VA test to 1st and 4th grades primary school children data were analyzed by separating students according to sex, school grade, wearing of glasses, residence area and level of access to the supplementary medical assistance (SMA). RESULTS: The total of 9,640 students was evaluated during the year of 2000 and they presented a prevalence of low VA of 13.1% (CI 12.5-13.8%). There was a statistical significant lower prevalence in males (11.5%) compared to females (14.9%) - (PR=0.77). There was a statistical significant higher prevalence in 1st grade students (14.1%) compared to 4th grade (11.5%) - (PR=1.22). There was also a statistical significant lower prevalence for those who were not wearing glasses (12.1%) compared to those who were using glasses (42.0%) - (PR=0.29). Concerning to residence areas, Cajuru neighborhood had the lower prevalence of low VA (1.8%) and Vila Sabia neighborhood had the higher prevalence (32.4%), and a positive correlation, according to residence area, between the proportion of people with access to the Supplementary Medical Assistance and the proportion of children wearing glasses was found (r=0.64, p<0.001). CONCLUSIONS: The low VA high prevalence shows lack in early diagnosis and continuity of assistance pointing out to the urgent need of implementation in visual health public. 相似文献