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Padeletti M Cameli M Lisi M Malandrino A Zacà V Mondillo S 《Echocardiography (Mount Kisco, N.Y.)》2012,29(2):147-152
Background: The role of speckle tracking in the assessment of right atrial (RA) deformation dynamics has not been established yet. The reference ranges of RA longitudinal strain indices were measured by speckle tracking in a population of normal subjects. Methods: In 84 healthy individuals, peak atrial longitudinal strain (PALS), peak atrial contraction strain (PACS), and time to peak longitudinal strain (TPLS) were measured using a six‐segment model for the RA. Strain rate (SR) was also measured starting from the QRS‐wave onset, peak positive (x‐wave), first peak negative (y‐wave), and second negative peak (z‐wave). The time from the QRS onset was measured to each wave peak. Results: Adequate tracking quality was achieved in 64% of segments analyzed. Inter‐ and intraobserver variability coefficients of measurements ranged between 6% and 11%. Global PALS was 49 ± 13%, global TPLS was 363 ± 59 msec, x‐wave was 2.12 ± 0.58 sec?1, y‐wave was ?1.91 ± 0.63 sec?1, and z‐wave was ?2.18 ± 0.78 sec?1. Conclusion: Speckle tracking is a feasible technique for the assessment of longitudinal myocardial RA deformation. Reference ranges of strain indices were reported. (Echocardiography 2012;29:147‐152) 相似文献
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Francesca Novara Ambra Rizzo Gloria Bedini Vita Girgenti Silvia Esposito Chiara Pantaleoni Roberto Ciccone Francesca L. Sciacca Valentina Achille Erika Della Mina Simone Gana Orsetta Zuffardi Margherita Estienne 《European journal of medical genetics》2013,56(5):260-265
5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic small mouth resulting in cupid bow/tented upper lip. MEF2C mutations have been also identified in patients with overlapping phenotype so that it is considered the gene responsible for the 5q14.3 deletion syndrome. To date, one single duplication including MEF2C has been reported in a patient with intellectual disability but its clinical significance remains uncertain also because of the large size of the imbalance. Here we present two further patients with 5q14.3 duplications including MEF2C. Their phenotype indeed suggest the pathogenic effect of the MEF2C duplication although other duplicated genes also brain expressed might contribute to the clinical features. In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented. 相似文献
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Daniela Damiani Mario Tiribelli Antonella Geromin Michela Cerno Alessandra Sperotto Eleonora Toffoletti Erica Simeone Angela Michelutti Margherita Cavallin Renato Fanin 《Annals of hematology》2012,91(12):1937-1943
We retrospectively analysed 78 patients with relapsed (n?=?38), primary refractory (n?=?34) or untreated (n?=?6) acute myeloid leukaemia (AML) who underwent allogeneic HSCT at our Institution between 2002 and 2011, to verify outcome and to identify factors that can affect long-term outcome. Myeloablative conditioning regimens were used in 48 patients (24 siblings, 24 matched unrelated donor (MUD)), while 30 patients (18 siblings, 12 MUD) received reduced-intensity conditioning. Acute graft versus host disease (GVHD) developed in 37 (47?%) patients, while chronic GVHD occurred in 19 of the 65 evaluable patients (29?%). With a median follow-up time of 5?years, 13 of 78 patients (17?%) are alive and in complete remission (CR), while 64 have died. Cause of death was disease recurrence in 37 patients (58?%), infection in ten patients (16?%) and GVHD in six (9?%). One-year non-relapse mortality was 35?%. In multivariate analysis, performance status ≥80?% WHO and a full-matched donor were associated with a better outcome: these two variables allowed for risk stratification, identifying three groups with significantly different survival after transplant (P?=?0.0001). Considering post-transplant variables, only CR at recovery and development of cGVHD were correlated with a longer survival. Our data confirm the capacity of allogeneic transplant to prolong survival in a significant proportion of extremely high-risk AML patients. 相似文献