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Camnasio S Carri AD Lombardo A Grad I Mariotti C Castucci A Rozell B Riso PL Castiglioni V Zuccato C Rochon C Takashima Y Diaferia G Biunno I Gellera C Jaconi M Smith A Hovatta O Naldini L Di Donato S Feki A Cattaneo E 《Neurobiology of disease》2012,46(1):41-51
Neuronal disorders, like Huntington's disease (HD), are difficult to study, due to limited cell accessibility, late onset manifestations, and low availability of material. The establishment of an in vitro model that recapitulates features of the disease may help understanding the cellular and molecular events that trigger disease manifestations. Here, we describe the generation and characterization of a series of induced pluripotent stem (iPS) cells derived from patients with HD, including two rare homozygous genotypes and one heterozygous genotype. We used lentiviral technology to transfer key genes for inducing reprogramming. To confirm pluripotency and differentiation of iPS cells, we used PCR amplification and immunocytochemistry to measure the expression of marker genes in embryoid bodies and neurons. We also analyzed teratomas that formed in iPS cell-injected mice. We found that the length of the pathological CAG repeat did not increase during reprogramming, after long term growth in vitro, and after differentiation into neurons. In addition, we observed no differences between normal and mutant genotypes in reprogramming, growth rate, caspase activation or neuronal differentiation. However, we observed a significant increase in lysosomal activity in HD-iPS cells compared to control iPS cells, both during self-renewal and in iPS-derived neurons. In conclusion, we have established stable HD-iPS cell lines that can be used for investigating disease mechanisms that underlie HD. The CAG stability and lysosomal activity represent novel observations in HD-iPS cells. In the future, these cells may provide the basis for a powerful platform for drug screening and target identification in HD. 相似文献
114.
Di Donato Ilaria Gallo Antonio Ricca Ivana Fini Nicola Silvestri Gabriella Gurrieri Fiorella Cirillo Mario Cerase Alfonso Natale Gemma Matrone Federica Riso Vittorio Melone Mariarosa Anna Beatrice Tessa Alessandra De Michele Giovanna Federico Antonio Filla Alessandro Dotti Maria Teresa Santorelli Filippo Maria 《Neurological sciences》2022,43(2):1071-1077
Neurological Sciences - Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to... 相似文献
115.
Middle cerebral artery peak systolic and ductus venosus velocity waveforms in the hydropic fetus. 总被引:2,自引:0,他引:2
Erich Cosmi Salvatore Dessole Luisa Uras Giampiero Capobianco Donato D'Antona Alessandra Andrisani Pietro Litta Guido Ambrosini 《Journal of ultrasound in medicine》2005,24(2):209-213
OBJECTIVE: The purpose of this study was to assess whether Doppler assessment of the middle cerebral artery (MCA) peak systolic velocity (PSV) and ductus venosus (DV) velocity waveforms during sonography of hydropic fetuses may specify the cause of fetal hydrops. METHODS: A level II sonographic examination was performed in 16 hydropic fetuses, and the MCA PSV and DV velocity waveforms were assessed. The MCA PSV values divided hydropic fetuses into anemic (group 1) and nonanemic (group 2) fetuses. In group 2 fetuses, the DV was defined as normal or abnormal. Sonographic examination and Doppler assessment of these vessels specified the cause of hydrops and indicated the use of specific investigations for diagnosing the etiology of fetal hydrops. RESULTS: Seven of 16 fetuses had MCA PSV values greater than 1.50 multiples of the median (group 1). Nine of 16 fetuses had normal MCA PSV values (group 2); among them, 7 of 9 had either absent or reversed flow in the DV, and 2 had a normal DV. In group 1, the cause of fetal anemia was investigated by maternal serum tests, and 5 cordocentesis procedures were performed. In group 2, 7 of 9 fetuses had reversed flow in the DV, which suggested a cardiac abnormality confirmed by echocardiography. Five cordocentesis procedures were performed for fetal karyotype, and in 2 fetuses, the cause of hydrops was idiopathic. CONCLUSIONS: Our data suggest that assessment of the MCA PSV and DV velocity waveforms in the hydropic fetus may further our knowledge of the etiology of hydrops and may indicate which investigations among the many available should be used for diagnosing the cause of fetal hydrops. 相似文献
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Barbara Zanini Francesco Lanzarotto Alessandra Mora Stefania Bertolazzi Daniele Turini Bruno Cesana Francesco Donato Chiara Ricci Fulvio Lonati Francesco Vassallo Carmelo Scarcella Alberto Lanzini 《Digestive and liver disease》2010,42(12):865-870
Background
Little information is available on the effect of a follow-up strategy in celiac disease patients during gluten-free diet.Aims
To assess 5 year time course of t-transglutaminase antibodies (t-TG) in celiac disease patients enrolled in a community based follow-up program.Methods
Annual t-TG testing and periodical clinic visit in 2245 patients.Results
Proportion of patients with negative t-TG progressively increased from 83% to 93% during the 5-year follow-up: poor adherence to gluten-free diet (HR 4.764), long duration of gluten-free diet (HR 0.929) and female gender (HR 1.472) were independently associated with serological outcome. In individual patients, 69% tested t-TG “persistently negative”, 1% “persistently positive” and 30% “intermittently negative or positive”. By applying mathematical modelling to t-TG conversion rates observed in this latter group at beginning and end of the follow-up program, the predicted proportion of t-TG negative population increased from 90% to 95% over 5 years.Conclusions
Time-course of t-TG serology in the community fluctuates in 1/3 of celiac disease patients suggesting inconstant adherence to gluten-free diet and need of follow-up strategy. Periodical serological and clinical follow-up is a viable and efficacious strategy to promote adherence to gluten-free diet as inferred from time-course of t-TG serology. 相似文献118.
Cianci R Coen G Manfredini P Ciano G Di Donato D Stivali G Bianco P Vitale M Lavini R 《Minerva cardioangiologica》2006,54(1):139-144
AIM: Minimally invasive diagnostic techniques would be useful in the preoperative diagnosis of patients with hypertension and ischemic renal disease. The aim of our study was to compare color Doppler sonography (CDS), and magnetic resonance angiography (MRA) with the reference standard, digital subtraction angiography (DSA), in the diagnosis of renal artery stenosis. METHODS: Thirty-nine patients with arterial hypertension and monolateral or bilateral renal artery stenosis documented by CDS underwent renal artery MRA and then DSA during corrective percutaneous transluminal angioplasty. CDS and MRA scans were evaluated by 3 independent observers who studied 78 main renal arteries. Stenosis of 70% or more were regarded as significant. Sensitivity, specificity, positive and negative predictive values and two-sided 95% confidence intervals of CDS and MRA for the detection of significant renal artery stenosis were calculated. The statistical significance of the differences in sensitivities between CDS and MRA was assessed by means of the kappa test (< or =1). RESULTS: CDS and MRA, therefore, both achieved 97.6% sensitivity and 100% specificity for diagnosing stenoses at the origin of the renal artery; CDS yielded 100% sensitivity and 97.1% specificity and MRA 87.5% sensitivity and 98.6% specificity for diagnosing stenosis in the intermediate distal segments. CONCLUSIONS: Statistically significant differences between CDS and MRA in the diagnosis of renal artery stenosis have not been observed. However, according to our experience, CDS is the preferred technique because it also provides useful information about the development of kidney disease before correction. 相似文献
119.
Ambulatory pulse pressure, left ventricular hypertrophy and function in arterial hypertension 总被引:5,自引:0,他引:5
Rizzo V di Maio F Petretto F Marziali M Bianco G Barilla F Paravati V Pignata D Campbell SV Donato G Bernardo V Tallarico D 《Echocardiography (Mount Kisco, N.Y.)》2004,21(1):11-16
BACKGROUND: A wide pulse pressure (PP) can provide important risk assessment information about myocardial infarction, carotid artery atherosclerosis, and global cardiovascular risk. Ambulatory pulse pressure (APP) does not have a well-known prognostic value in hypertensive patients. METHODS:To evaluate the relationship among high APP, atrial volumes, and cardiac function, an observational study was performed on 108 untreated non-elderly hypertensive patients (mean age 54.23 +/- 7.12). Twenty-four-hour ambulatory blood pressure monitoring, Doppler and echocardiographic measurements of systolic, diastolic function, left and right atrial volumes, left ventricular mass index and dimensions, were performed in subjects with both clinic and APP > 60 mmHg (APP1 Group). A control group of hypertensive selected subjects with both clinic and APP < 60 mmHg was chosen (APP 2 Group). RESULTS: The APP1 group showed left atrial volume enlargement, high left ventricular mass index, and impaired diastolic function. A positive correlation was found in the APP1 group results among left ventricular end diastolic diameter (r = 0.39, P < 0.01), left atrial volume (0.38, P < 0.05), and left ventricular mass index (r = 0.33, P < 0.05); clinic PP showed a statistically significant correlation with left atrial volume, left ventricular end diastolic diameter, and left ventricular mass index only in the APP1 group. CONCLUSIONS: These results suggest that elevated APP can be considered an effective predictor of cardiovascular risk in hypertensive subjects. In these patients echocardiographic evaluation of left ventricular function and morphology can increase the prognostic value of PP. 相似文献
120.
Penetrating chest trauma leading to selective coronary artery injury is uncommon. Their incidence is not accurately established because the clinical diagnosis is difficult and the lesion is often revealed only during autopsy. The mortality rate remains high. We report a fatal case of selective right coronary artery injury due to a penetrating wound directed to the right chest. 相似文献