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Clinical,immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study 总被引:5,自引:0,他引:5
Plebani A Soresina A Rondelli R Amato GM Azzari C Cardinale F Cazzola G Consolini R De Mattia D Dell'Erba G Duse M Fiorini M Martino S Martire B Masi M Monafo V Moschese V Notarangelo LD Orlandi P Panei P Pession A Pietrogrande MC Pignata C Quinti I Ragno V Rossi P Sciotto A Stabile A;Italian Pediatric Group for XLA-AIEOP 《Clinical immunology (Orlando, Fla.)》2002,104(3):221-230
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG. 相似文献
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Simona Soverini Giovanni Martinelli Gianantonio Rosti Simona Bassi Marilina Amabile Angela Poerio Barbara Giannini Elena Trabacchi Fausto Castagnetti Nicoletta Testoni Simona Luatti Antonio de Vivo Daniela Cilloni Barbara Izzo Milena Fava Elisabetta Abruzzese Daniele Alberti Fabrizio Pane Giuseppe Saglio Michele Baccarani 《Journal of clinical oncology》2005,23(18):4100-4109
PURPOSE: Point mutations within the ABL kinase domain of the BCR-ABL gene have been associated with clinical resistance to imatinib mesylate in chronic myeloid leukemia (CML) patients. To shed further light on the frequency, distribution, and prognostic significance of ABL mutations, we retrospectively analyzed a homogeneous cohort of late chronic phase CML patients who showed primary cytogenetic resistance to imatinib. PATIENTS AND METHODS: Using denaturing high-performance liquid chromatography (D-HPLC) and sequencing, we screened for ABL mutations in a total of 178 bone marrow and/or peripheral blood samples from 40 late chronic phase CML patients homogeneously treated with imatinib 400 mg/d, who did not reach a major cytogenetic response at 12 months. RESULTS: Mutations were found in 19 of 40 patients (48%). Mutations were already detectable by D-HPLC at a median of 3 months from the onset of therapy. The presence of a missense mutation was significantly associated with a greater likelihood of subsequent progression to accelerated phase/blast crisis (P = .0002) and shorter survival (P = .001). Patients carrying mutations falling within the P-loop seemed to have a particularly poor outcome in terms of time to progression (P = .032) and survival (P = .045). CONCLUSION: Our results show that, irrespective of the hematologic response, monitoring for emerging mutations in the first months of therapy may play a role in detecting patients with worse prognosis, for whom a revision of the therapeutic strategy should be considered. 相似文献
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Saviola Gianantonio Abdi-Ali Lul Povino Maria Rosaria Campostrini Lorella Sacco Silvano Dalle Carbonare Luca 《Clinical rheumatology》2018,37(7):2019-2019
Clinical Rheumatology - One of the author names on this article was incorrectly tagged during the article mark-up; Luca Dalle Carbonare’s name has now been correctly tagged, with first name... 相似文献
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Saviola G Abdi-Ali L Campostrini L Sacco S Baiardi P Manfredi M Mannoni A Benucci M 《Modern rheumatology / the Japan Rheumatism Association》2012,22(2):256-263
We evaluated the efficacy of clodronate for treating active erosive osteoarthritis of the hand and to compare it with hydroxychloroquine.
Group A consisted of 24 patients treated for 24 months with clodronate 300 mg i.v. for 7 days, followed by clodronate i.m.
100 mg for 14 days every 3 months. Group B comprised 14 patients treated with hydroxychloroquine 400 mg daily for 30 days,
followed by 200 mg daily for the next 11 months. In group A, 21/24 patients completed the trial and obtained significant pain
reduction (p < 0.001), Dreiser’s score (p = 0.012), and number of tender joints (p = 0.011). Strength of right (p = 0.04) and left (p = 0.016) hands, physician’s global assessment (p ≤ 0.001), and patient’s global assessment (p = 0.021) improved. In group B, 8/14 patients completed 12 months of the study, which showed the inefficacy of hydroxychloroquine
and its lack of acceptance by patients (worsening pain and patient’s global assessment). Therefore, enrolment was stopped.
Differences between groups showed a pain decreasing trend for group A and a slightly increasing one for group B (p = 0.018). Physician and patient global assessments showed a strong increase in group A compared with group B (p < 0.001). Clodronate is effective in erosive osteoarthritis; hydroxychloroquine seems to be ineffective. 相似文献
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Fabio Efficace Gianantonio Rosti Neil Aaronson Francesco Cottone Emanuele Angelucci Stefano Molica Marco Vignetti Franco Mandelli Michele Baccarani 《Haematologica》2014,99(4):788-793
The main objective of this study was to compare the reporting of health status and symptom severity, for a set of core symptoms related to imatinib therapy, between chronic myeloid leukemia patients and their treating physicians. Patients were asked to complete a questionnaire including questions on symptom severity and health status. The symptoms assessed were: abdominal discomfort, diarrhea, edema, fatigue, headache, muscle cramps, musculoskeletal pain, nausea and skin problems. The physicians were asked to complete a questionnaire for each of their patients entering the study. Four hundred twenty-two patients were included in the study. All respective paired physicians (n=29) completed the questionnaire, and thus the analyses are based on 422 patient-physician dyads. Agreement on symptom ratings ranged from 34% (for muscle cramps) to 66% (for nausea). For all symptoms, patients reported higher severity more often than their physicians. The three symptoms whose severity was most frequently underestimated by physicians were fatigue (51%), muscle cramps (49%) and musculoskeletal pain (42%). Health status was overestimated by physicians in 67% of the cases. Physicians and their patients with chronic myeloid leukemia often disagree in their ratings of the patients’ symptom severity. Most typically, physicians tend to underestimate symptom severity and overestimate the overall health status of their patients. Current findings support the use of patient-reported outcome measures as a possible means to enhance the management of patients with chronic myeloid leukemia. 相似文献
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Luca Salvatore De Santo Gianpaolo Romano Cristiano Amarelli Ciro Maiello Francesco Baldascino Ciro Bancone Francesco Grimaldi Gianantonio Nappi 《European journal of cardio-thoracic surgery》2011,40(6):1355-1361
Objective: Data regarding risks and consequences of acute kidney injury (AKI) after cardiac transplantation are dismissingly few and unclear. This study defined the incidence, risk factors and prognostic implication of AKI in a single-center cohort operated on between January 1999 and December 2008. Methods: Data from 307 consecutive recipients (mean age: 47.42 ± 13.58, 20.5% female, 18.9% diabetics, 19.5% with previous cardiac operations, 26.4% hospitalized, 78.4 ± 33.7 ml min−1 preoperative glomerular filtration rate (eGFR)) were analyzed using multivariable logistic regression modeling. AKI was defined according to RIFLE (Risk, Injury, and Failure; and Loss, and End-stage kidney disease) criteria. Results: RIFLE scores of I or F were detected in 14%, and continuous venovenous hemofiltration was needed in 6.1%. Risk factors for AKI were: previous cardiac operation (odds ratio (OR) 2.35; 95% confidence interval (CI), 1.11–4.9), blood transfusion (OR 1.08; 95% CI, 1.011–1.16), troponin I release >10 (OR 1.031; 95% CI, 1.001–1.064), length of ischemic time (OR 1.008; 95% CI, 1.011–1.16). Overall hospital mortality averaged 7.8% and overall 1-year mortality was 10.4%; both mortality rates increased with each RIFLE stratification (Normal 3.4%, RIFLE R = 7.1%; RIFLE I = 25.7%; and RIFLE F = 37.5% and Normal 5.6%, RIFLE R = 11.8%, RIFLE I = 25.7%, and RIFLE F = 37.5%, respectively). AKI proved independent predictors of both early and 1-year mortality. The burden of AKI significantly affected 1-year kidney function (Δ preoperative GFR − 1-year GFR in AKI vs no AKI = −25.872 ± 22.54 vs −7.968 ± 34.18, p = 0.015). Conclusions: AKI is a highly prevalent and prognostically important complication. Some of the risk factors for AKI identified may be modifiable. 相似文献
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Simona Soverini Alessandra GnaniCaterina De Benedittis Fausto CastagnettiGabriele Gugliotta Ilaria IacobucciFrancesca Palandri Gianantonio RostiNicoletta Testoni Simona LuattiGiulia Marzocchi Michele BaccaraniGiovanni Martinelli 《Leukemia research》2011,35(11):1527-1529
We investigated whether low-level Bcr-Abl kinase domain mutations can be detected in patients who have stable responses to first-line nilotinib-like it is known to happen in patients receiving imatinib. We screened for mutations twelve such patients by cloning and sequencing. Only one case was found to harbor mutations at low levels (including a T315I). However, major molecular response (MMR) was maintained and it even improved to complete molecular response. Our results suggest that a) Bcr-Abl mutations, even at low level, seem to be very rare in patients in MMR on first-line nilotinib; b) low-level mutations do not always predict for subsequent relapse. 相似文献