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11.
Angelucci E Barosi G Camaschella C Cappellini MD Cazzola M Galanello R Marchetti M Piga A Tura S 《Haematologica》2008,93(5):741-752
New measures of iron accumulation in liver and heart (superconducting quantum inference device and magnetic resonance imaging), and oral iron chelators (deferiprone and deferasirox) are available for managing iron overload in thalassemia major. To assure appropriate use of these new health technologies, the Italian Society of Hematology appointed a panel of experts to produce clinical practice-guidelines for the management of iron overload in thalassemia major and related disorders. The analytical hierarchy process, a technique for multicriteria decision analysis, was applied to relevant key questions in order to identify the alternative strategies, generate explicit criteria for their evaluation, and check how well the alternatives fulfilled the criteria. The result of a comprehensive systematic review of articles released from 1990 to 2007 was used as a source of scientific evidence to compare the decisional options pairwise, and select the final recommendation. Every step in the model was developed from questionnaires and group discussion. The resulting recommendations advise about which examination to carry out in order to plan iron chelation therapy, when to start iron chelation, which iron chelator to choose in regularly transfused patients, how to monitor iron chelation therapy, and when and how to switch standard therapy. 相似文献
12.
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
13.
Silvia Udali Annalisa Castagna Michela Corbella Andrea Ruzzenente Sara Moruzzi Filippo Mazzi Tommaso Campagnaro Domenica De Santis Antonia Franceschi Patrizia Pattini Rossella Gottardo Oliviero Olivieri Luigi Perbellini Alfredo Guglielmi Sang‐Woon Choi Domenico Girelli Simonetta Friso 《European journal of clinical investigation》2018,48(2)
14.
Mattia Morri Paolo Chiari Cristiana Forni Antonella Orlandi Magli Domenica Gazineo Natalia Franchini Lorenzo Marconato Tiziana Giamboi Andrea Cotti 《Archives of physical medicine and rehabilitation》2018,99(5):893-899
Objective
To identify the factors associated with recovering autonomy in activities of daily living (ADL) in patients who have had a hip fracture.Design
A prospective cohort study.Setting
The orthopedic and orthogeriatric departments of 2 regional hospitals.Participants
Patients (N=742) aged ≥65 years with a diagnosis of fragility hip fracture.Main Outcome Measures
The level of autonomy at 4 months was assessed using the ADL scale.Results
The median score on the ADL scale at 4 months was 3 (interquartile range, 5). Half of the population was unable to recover their prefracture autonomy levels. The following were found to be risk factors: increasing age (B=.02, P<.001); an elevated number of comorbidities (B=.044, P=.005); a lower level of prefracture autonomy (B=.087, P<.001); more frequent use of an antidecubitus mattress (B=.211, P<.001); an increased number of days with disorientation (B=.002, P=.012); failure to recover deambulation (B=.199, P<.001); an increased number of days with diapers (B=.003, P<.001), with a urinary catheter (B=.03, P<.001), and with bed rails (B=.001, P=.014); and a nonintensive care pathway (B=.199, P=.014).Conclusions
Recovery of deambulation, treatment of disorientation and management of incontinence are modifiable factors significantly associated with the functional recovery of autonomy. 相似文献15.
16.
Nistri S Sorbo MD Basso C Thiene G 《The Journal of heart valve disease》2002,11(3):369-73; discussion 373-4
BACKGROUND AND AIMS OF THE STUDY: Bicuspid aortic valve (BAV) is frequently associated with clinically relevant abnormalities of the aorta, suggesting the existence of a common underlying developmental defect involving the aortic valve and wall of the ascending aorta. The study aim was to evaluate noninvasively the elastic properties of the aortic root in young males with BAV, to discover whether structural abnormalities of the aorta might be manifested by impairment in elasticity. METHODS: Forty-nine young male subjects with isolated BAV were consecutively detected during preenrollment military screening, and studied using transthoracic echocardiography. Data were compared with those obtained in 45 normal subjects, matched for gender and age. RESULTS: Patients and controls were comparable for body size, and systolic and diastolic blood pressures. BAVs were normally functioning in 18 patients (37%), and mildly regurgitant in 31 (63%). Measurements made by two-dimensional echocardiography showed that BAV patients had significantly larger aortic root dimensions at the annulus (2.4+/-0.2 versus 2.2+/-0.2 cm, p <0.001), at the sinus of Valsalva (3.3+/-0.4 versus 2.6+/-0.3 cm, p <0.001), at the sinotubular junction (2.9+/-0.3 versus 2.5+/-0.2 cm, p <0.001), and at the proximal ascending aorta (2.8+/-0.3 versus 2.5+/-0.2 cm, p <0.001). Measurements made using M-mode echocardiography at 3 cm from the annulus, showed the difference between systolic and diastolic diameters of the aortic root to be significantly smaller in patients than in controls (2.1+/-1.2 versus 3.0+/-1.1 mm, respectively, p <0.001). In patients and in controls, both aortic distensibility (2.7+/-1.5 versus 4.8+/-2.2 x 10(-6) cm2 dyne(-1), respectively, p <0.001) and aortic stiffness index (10.2+/-5.3 versus 5.03+/-1.97, respectively, p <0.001) were significantly different. CONCLUSION: Young male subjects with BAV and no or mild aortic regurgitation display large aortic size and abnormal elastic properties of the ascending aorta compared with controls. These findings confirm the notion that, in these patients, aortic root dilatation is a morphological correlate of intrinsic structural aortic abnormality. 相似文献
17.
Gioia A. L. Negri Raffaella I. Rumiati Antonietta Zadini Maja Ukmar Bradford Z. Mahon Alfonso Caramazza 《Cognitive neuropsychology》2013,30(8):795-816
An important issue in contemporary cognitive neuroscience concerns the role of motor production processes in perceptual and conceptual analysis. To address this issue, we studied the performance of a large group of unilateral stroke patients across a range of tasks using the same set of common manipulable objects. All patients (n = 37) were tested for their ability to demonstrate the use of the objects, recognize the objects, recognize the corresponding object-associated pantomimes, and imitate those same pantomimes. At the group level we observed reliable correlations between object use and pantomime recognition, object use and object recognition, and pantomime imitation and pantomime recognition. At the single-case level, we document that the ability to recognize actions and objects dissociates from the ability to use those same objects. These data are problematic for the hypothesis that motor processes are constitutively involved in the recognition of actions and objects and frame new questions about the inferences that are merited by recent findings in cognitive neuroscience. 相似文献
18.
Carmen Barba Massimo Cossu Renzo Guerrini Giancarlo Di Gennaro Flavio Villani Luca De Palma Laura Grisotto Alessandro Consales Domenica Battaglia Nelia Zamponi Piergiorgio dOrio Martina Revay Michele Rizzi Sara Casciato Vincenzo Esposito Pier Paolo Quarato Roberta Di Giacomo Giuseppe Didato Chiara Pastori Giusy Carfi Pavia Simona Pellacani Giulia Matta Mattia Pacetti Gianpiero Tamburrini Elisabetta Cesaroni Gabriella Colicchio Giampaolo Vatti Sofia Asioli Massimo Caulo Carlo Efisio Marras Laura Tassi 《Epilepsia》2021,62(1):128-142
19.
Paolo Immovilli Eugenia Rota Nicola Morelli Elena Marchesi Chiara Terracciano Domenica Zaino Giampiero Ferrari Roberto Antenucci Donata Guidetti 《Journal of stroke and cerebrovascular diseases》2021,30(2):105470
Background and purposean estimated 40-80% of acute ischemic stroke patients have dysphagia and about 14% develop stroke-associated pneumonia. However, it may be difficult to detect swallowing problems at admission. Moreover, there might not be an on-duty specialist skilled in the diagnosis of this condition. This study aimed at developing a user-friendly bedside examination to identify the risk of dysphagia in stroke patients at hospital admission.Methodsa diagnostic accuracy study was carried out to assess the concurrent validity of a simple Bedside Screening Tool for Dysphagia (BSTD) in acute stroke. All the consecutive stroke patients admitted between January and April 2018 were enrolled. Sensitivity, specificity, positive (PPV), negative predictive values (NPV) and the Cohen K concordance index scores, reported by nurses and speech-pathologists, were assessed.Resultsa total of 67/120 patients (55.8%) were male; overall average age was 67.4 (range 45-91) and 80.8% of the whole population had a history of ischemic stroke. The nursing staff identified 33.3% of dysphagia cases at admission and the speech pathologists 30%. The Cohen K was 0.92 (optimal concordance when K was > 0.8), sensitivity was 100%, specificity 95.2%, PPV 90% and NPV 100%.Conclusionsour BSTD had a 100% negative predictive value, indicating that this screening test is very useful in ruling out/confirming dysphagia in acute stroke patients 相似文献