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21.
Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations. 总被引:8,自引:0,他引:8
22.
Ear involvement in acute promyelocytic leukemia at relapse: a disease-associated 'sanctuary'? 总被引:1,自引:0,他引:1
M Breccia M C Petti A M Testi G Specchia F Ferrara D Diverio A Romano V Guerrisi A Greco M L Fiorella M de Vincentiis F Mandelli F Lo Coco 《Leukemia》2002,16(6):1127-1130
Extramedullary (EM) involvement occurs infrequently in acute promyelocytic leukemia (APL) and usually involves skin and CNS. We describe seven patients (four observed at a single institution) who relapsed in various sites of the auditory apparatus, including the external canal and middle ear (temporal bone). Front-line treatment included ATRA and chemotherapy (six patients) or chemotherapy alone (one patient). Three patients had concomitant hematologic relapse, two had molecular relapse and two were in hematologic and molecular remission when ear localization was documented. Local symptoms that stimulated further diagnostic studies included ear bleeding/discharge in the first patient, but were mild in the others (hypoacusia, five patients; earache, two patients). Ear involvement by leukemia was documented by histological and/or molecular studies after local surgery in five cases, and by CT scan or NMR in the remaining patients. We suggest that the ear might represent a specific sanctuary for disease involvement in APL. 相似文献
23.
FLAG-IDA in the treatment of refractory/relapsed adult acute lymphoblastic leukemia 总被引:14,自引:0,他引:14
Specchia G Pastore D Carluccio P Liso A Mestice A Rizzi R Ciuffreda L Pietrantuono G Liso V 《Annals of hematology》2005,84(12):792-795
Relapsed or refractory adult acute lymphoblastic leukemias (ALL) have poor prognosis. The strategy for treating these patients
is through reinduction chemotherapy followed by allogeneic stem cell transplantation, provided that the toxicity of the salvage
regimen is acceptable. Twenty three patients with relapsed/refractory adult ALL were treated with fludarabine, cytarabine,
granulocyte colony-stimulating factor, and idarubicin (FLAG-IDA). Five patients had primary refractory disease, and 18 were
in first relapse. Nine (39.1%) patients achieved complete remission (CR) following salvage therapy, whereas 13 (56.5%) patients
were refractory, and one patient died in aplasia due to infection. In patients achieving remission, the median time to reach
absolute neutrophil count (ANC) more than 0.5×109/l and 1×109/l was 20 (range 16–25) and 24 (range 20–28) days from the start of chemotherapy, respectively. Platelet levels of more than
20×109/l and 100×109/l were achieved in a median time of 23 (range 19–25) and 33 (range 28–39) days, respectively. Fever more than 38.5°C was
observed in 18 of 23 patients (78.2%), 13 had fever of unknown origin, and 5 had documented infections. Nonhematological side
effects, consisting mainly of mucositis (18/23 or 78.2%) and transient liver toxicity increase (10/23 or 43.4%), were generally
tolerated. All nine patients who achieved CR received a second course with FLAG-IDA, and seven patients underwent allogeneic
stem cell transplantation (four from a matched donor, one from a mismatched donor, and two from an unrelated donor), while
two did not reach that stage due to early relapse from CR. The median overall survival (OS) for all 23 patients was 4.5 (range
1–38) months; for the nine responders, the disease-free survival (DFS) and the OS were 6 (range 3–38) and 9 (7–38) months,
respectively; the seven patients who received allogeneic stem cell transplantation had a DFS of 10 (range 7–38) months. In
our experience, FLAG-IDA is a well-tolerated regimen in relapsed/refractory ALL patients; the toxicity is acceptable, enabling
patients who have achieved CR to receive allogeneic transplantation. 相似文献
24.
Giardini A Specchia S Coutsoumbas G Donti A Gargiulo G Bonvicini M Picchio FM 《Pediatric cardiology》2005,26(6):821-826
The aim of this study was to evaluate the ability to recover from exercise in patients with a Mustard/Senning (M/S) repair
for transposition of the great arteries and to identify the major determinants. A total of 40 consecutive patients with a
M/S repair at a mean age of 10.0 ± 9.8 months underwent maximal cardiopulmonary exercise testing at 19.5 ± 11.3 years of age.
Results were compared to those of a cohort of 153 healthy individuals. Decay of oxygen uptake (VO2), CO2 (VCO2), minute ventilation (VE), heart rate (HR) was calculated for the first minute of recovery. M/S patients had reduced peak
VO2 (22.9 ± 7.2 vs 34.2 ± 9.5 ml O2/kg/min, p < 0.0001) and VO2 slope (0.27 ± 0.10 vs 0.47 ± 0.2 L O2/min, p < 0.0001), Peak O2 pulse (p < 0.0001) and peak HR (p = 0.001) were reduced. VCO2 and VE slopes were reduced (p < 0.0001 for both), whereas HR slope was similar (p = 0.38). In M/S patients, the only independent determinants of VO2 slope during recovery were pulse O2 slope (p < 0.0001) and VCO2 slope (p < 0.0001). In M/S patients, a limited cardiopulmonary reserve affects not only maximal exercise responses but also the recovery
phase. A prolonged recovery of O2 pulse and a prolonged CO2 retention with subsequent prolonged hyperpnea are the main determinants of the delayed recovery. 相似文献
25.
Mettimano M Romano-Spica V Ianni A Specchia M Migneco A Savi L 《International journal of clinical practice》2002,56(8):574-577
Left ventricular hypertrophy in patients with hypertension is a main clinical prognostic entity The aim of this study was to evaluate the association between mutations at genes of the renin-angiotensin system (RAS) and the development of left ventricular hypertrophy. Genetic polymorphism in angiotensinogen (AGT) and angiotensin Il-type 1 receptor (AT1R) genes was examined in a group of well-selected essential hypertensive caucasians with left ventricular involvement (n = 40) and a group of healthy unrelated caucasians (n = 150). Cardiac morphology and function were assessed by M-mode echocardiography. Molecular variants were analysed by amplified fragment length polymorphism. We observed a statistically significant difference both for AGT and AT1R genotype distribution in patients with left ventricular hypertrophy compared with controls (p<0.05). A 0.49 and 0.225 frequency was detected among cases for T and C mutant alleles at AGT and AT1R genes. Mutations in RAS genes are involved in the pathophysiology of target-organ damage in essential hypertension. Evaluation of molecular factors conferring a risk of developing heart involvement may lead to better identification of patient subgroups and more effective control of the clinical course. 相似文献
26.
Pagnotta A Specchia N Soccetti A Manzotti S Greco F 《The Journal of hand surgery》2003,28(6):1029-1034
PURPOSE: We recently showed that androgen receptors are expressed in Dupuytren's contracture. The aim of the present work was to test the responsiveness of Dupuytren's fibroblasts to 5 alpha-dihydrotestosterone (5 alpha-DHT), the active form of testosterone. RESULTS: Cultured palmar fascia cells from 10 patients with Dupuytren's contracture and 4 normal subjects were exposed to 5 alpha-DHT (10 or 100 ng/mL) for 1, 3, 7, and 15 days. Their phenotype was analyzed immunohistochemically for alpha-smooth muscle actin and androgen receptor expression and proliferation rates were studied. RESULTS: At 15 days the higher concentration of 5 alpha-DHT induced an increase in Dupuytren's fibroblast proliferation, whereas anti-alpha-smooth muscle actin exhibited the strongest expression. At the same time point androgen receptor expression decreased with the lower concentration and disappeared altogether with the higher dose of 5 alpha-DHT. CONCLUSIONS:The palmar fascia is a target tissue for androgen action via androgen receptors. Further studies are required to determine whether control of androgen receptor may control the evolution of Dupuytren's disease. 相似文献
27.
Calza S Specchia C Frasca G Tumino R Sacerdote C Fiorini L Galasso R Ciardullo AV Palli D Salvini S Krogh V Sieri S Decarli A 《Tumori》2003,89(6):615-623
BACKGROUND: EPIC-Italy cohort study recruited subjects who voluntarily accepted to participate in the project. From the self-selected bases of the population sample, some bias could derive in the data interpretation when risk estimation for cancer disease related to life-style factors is the principal concern. Knowledge of the bias related to self-selected sampling is important for better directing the interpretation of the EPIC-Italy study results. METHODS: We investigated the characteristics of volunteer subjects recruited in the EPIC-Italy cohorts and compared them with those of the randomly selected subjects recruited in the Multipurpose ISTAT Surveys realized in the same period (1993-1998) in which the EPIC-cohorts were recruited. RESULTS: We found some differences, and in particular a different attitude towards cigarettes smoking and wine consumption, between the EPIC cohort and the Multipurpose ISTAT Surveys, as well as among geographical areas within the EPIC cohort. CONCLUSIONS: The uneven distribution of some characteristics suggests that the self-selected subjects were characterized by an overall lower consumption of wine and cigarette smoking even when the educational level was considered. This could suggest a generally more healthy life-style among subjects recruited on a volountary bases. 相似文献
28.
Sabbà C Cirulli A Rizzi R Pasculli G Gallitelli M Specchia G Liso V 《Acta haematologica》2001,106(4):214-219
To date much of the recent work on pathological angiogenesis has focused on inflammatory diseases, diabetes and cancer in particular. Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber disease provides an example of the genetic disorder of angiogenesis in which a multisystemic angiodysplasia is responsible for severe hemorrhage. The disease pathogenesis is partially explained by a defect in the TGF-beta signaling system, although in more recent works a possible role of other vascular growth factors has been proposed. This paper provides a model of an aberrant angiogenesis in which multiple vascular growth factors could be involved in a diffuse angiodysplasia. 相似文献
29.
30.