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41.
Karl M Potier M Schulman IH Rivera A Werner H Fornoni A Elliot SJ 《Endocrinology》2005,146(2):889-900
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Concetta Cafiero Giuseppe Marangi Daniela Orteschi Marwan Ali Alessia Asaro Emanuela Ponzi Alice Moncada Stefania Ricciardi Marina Murdolo Giorgia Mancano Ilaria Contaldo Vincenzo Leuzzi Domenica Battaglia Eugenio Mercuri Anne M Slavotinek Marcella Zollino 《European journal of human genetics : EJHG》2015,23(11):1499-1504
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such as bulbous nasal tip, short mouth and straight eyebrows. We found two de novo frameshift variants in MED13L, consisting in single-nucleotide deletion (c.3765delC) and duplication (c.607dupT). A de novo nonsense variant (c.4420A>T) in MED13L was detected in a further subject in the course of routine whole-exome sequencing. By analyzing the clinical data of our patients along with those recently described in the literature, we confirm that there is a common, recognizable phenotype associated with MED13L haploinsufficiency, which includes intellectual disability and a distinctive facial appearance. Congenital heart diseases are found in some subjects with various degree of severity. Our observation of cleft palate, ataxia, epilepsy and childhood leukemia observed in single cases broadens the known clinical spectrum. Haploinsufficiency for MED13L should be considered in the differential diagnosis of the 1p36 microdeletion syndrome, due to overlapping dysmorphic facial features in some patients. The introduction of massive parallel-sequencing techniques into clinical practice is expected to allow for detection of other causative point variants in MED13L. Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype. 相似文献
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New insights into the pharmacokinetics of intravenous busulfan in children with sickle cell anemia undergoing bone marrow transplantation 下载免费PDF全文
Javid Gaziev MD Antonella Isgrò MD Alessia Francesca Mozzi PhD Aurèlie Petain PhD Laurent Nguyen MD Cristiano Ialongo MD PhD Vincenzo Dinallo PhD Pietro Sodani MD Marco Marziali MD Marco Andreani PhD Manuela Testi PhD Katia Paciaroni MD Cristiano Gallucci MD Gioia De Angelis MD Cecilia Alfieri MD Michela Ribersani MD Guido Lucarelli MD 《Pediatric blood & cancer》2015,62(4):680-686
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Carolina D’Anna Armando Caputi Benedetta Natali Benedetta Leonardi Aurelio Secinaro Gabriele Rinelli Alessia Del Pasqua Claudia Esposito Adriano Carotti Fabrizio Drago Marcello Chinali 《The international journal of cardiovascular imaging》2018,34(3):399-406
Right ventricular (RV) evaluation represents one of the major clinical tasks in the follow-up of repaired tetralogy of Fallot patients (rToF) with pulmonary valve regurgitation, as both severe RV dilatation and dysfunction are key factors in defining the need of pulmonary valve replacement. The aim of our study was to report the diagnostic accuracy of echocardiography in the identification of rToF patients with severely dilated and/or depressed RV as compared to cardiac magnetic resonance (CMR). Among our patients with rToF, a subgroup of 95 (17.6?±?6.8 years; 60% male), who underwent right ventricular qualitative and quantitative evaluation with CMR following echocardiographic suspicion of severe dilation/dysfunction, were included in the analysis. When comparing echocardiographic RV functional parameters to CMR findings, we found no association between CMR-ejection fraction (EF) and either tricuspid annulus plane systolic excursion (TAPSe) nor tissue Doppler systolic tricuspid excursion velocity (all p?=?ns). In contrast RVFAC was strongly associated with CMR-EF (r?=?0.44; p?<?0.01) as well as to longitudinal components of RV mechanics including tissue Doppler s′ (r?=?0.40; p?<?0.01) and TAPSE (r?=?0.36; p?<?0.01). When comparing echocardiographic and CMR structural parameters of the RV, we found that CMR RV volume was strongly related to echocardiographic measurements of RV end diastolic area (from the 4 chamber apical view) and with proximal parasternal short axis right ventricle outflow-dimension. Accordingly a regression model was derived from multiple regression analysis, which allows a more accurate estimate of CMR RV volume from echocardiography (r2?=?0.59, p?<?0.001). Our study demonstrates a significant, although imperfect, correlation between echocardiographic and CMR RV functional and geometrical parameters. Combining echocardiographic measures of RV inflow and RV outflow, we deliver a simple formula to estimate CMR-RV volume, improving the echocardiographic accuracy in RV volume quantification. 相似文献
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Fausto Pizzino Antonella Meloni Anna Terrizzi Tommaso Casini Anna Spasiano Carlo Cosmi Massimo Allò Concetta Zito Scipione Carerj Giovanni Donato Aquaro Gianluca Di Bella Alessia Pepe 《The international journal of cardiovascular imaging》2018,34(2):263-271
We aimed to evaluate the role of two-dimensional speckle tracking imaging (2DSTI) in detecting early changes of myocardial deformation in patients affected by thalassemia major (TM) and its relation with myocardial iron overload (MIO) detected by T2* cardiovascular magnetic resonance (CMR). We studied 28 TM patients (15 males, 37.4?±?10 years). All patients underwent CMR and echocardiography in the same day. Segmental and global T2* values were measured. Values of global longitudinal strain (GLS) were derived from the three apical views, while radial and circumferential strain were obtained as average strain from the short axis views at basal, mid and apical level. Six patients (21.4%) showed significant MIO (global heart T2*?<?20 ms). GLS showed a significant correlation with T2* values (R?=??0.49; P?=?0.001) and it was significantly lower in patients with a significant MIO than in those with no significant MIO (?18.3?±?2 vs. ?21.3?±?2.7, P?=?0.02). No significant difference was found for radial and circumferential strain in relation to the severity of MIO. Patients with impaired GLS (<?19.5%) had a significant higher risk of showing significant MIO (Odds-ratio-OR?=?17; 95%). GLS is related with global T2* in TM patients. Moreover, GLS can identify TM patients with severe MIO detected by CMR. 相似文献
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Ames Paul R. J. D’Andrea Giovanna Marottoli Vincenzo Arcaro Alessia Iannaccone Luigi Gentile Fabrizio Maraglione Maurizio 《Journal of thrombosis and thrombolysis》2022,54(2):330-338
Journal of Thrombosis and Thrombolysis - To compare age at 1st ischaemic stroke (IS) in a cohort of juvenile (<?46 years of age) IS patients evaluated for the rs1801133... 相似文献
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Merashli Mira Arcaro Alessia Graf Maria Gentile Fabrizio Ames Paul R. J. 《Clinical rheumatology》2021,40(5):1967-1973
Clinical Rheumatology - The relationship between autoimmune haemolytic anaemia (AIHA) and antiphospholipid antibodies (aPL) has never been addressed via a meta-analysis in the paediatric age group.... 相似文献