Search results for " Cohort Studies"
showing 10 items of 130 documents
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Effectiveness of dolutegravir-based regimens as either first-line or switch antiretroviral therapy: data from the Icona cohort
2019
Introduction: Concerns about dolutegravir (DTG) tolerability in the real-life setting have recently arisen. We aimed to estimate the risk of treatment discontinuation and virological failure of DTG-based regimens from a large cohort of HIV-infected individuals. Methods: We performed a multicentre, observational study including all antiretroviral therapy (ART)-naïve and virologically suppressed treatment-experienced (TE) patients from the Icona (Italian Cohort Naïve Antiretrovirals) cohort who started, for the first time, a DTG-based regimen from January 2015 to December 2017. We estimated the cumulative risk of DTG discontinuation regardless of the reason and for toxicity, and of virologica…
Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.
2014
Importance There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials. Objectives To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center. Design, Setting, and Participants The discovery cohort included 712 patients with ALS from the Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis from January 1, 2007, to December 31, 2011. The validation cohort comprised 122 patients with ALS at different stages of…
Differential Clinicopathological Risk and Prognosis of Major Papillary Thyroid Cancer Variants
2015
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Effects of immunomodulatory treatment with subcutaneous interferon beta-1a on cognitive decline in mildly disabled patients with relapsing-remitting …
2010
The objective of this study was to assess the effects of subcutaneous (sc) interferon beta-1a (IFNβ-1a) on cognition in mildly disabled patients with relapsing—remitting multiple sclerosis (RRMS). Patients aged 18—50 years with RRMS (McDonald criteria; Expanded Disability Status Scale score ≤4.0) were assigned IFNβ therapy at the physician’s discretion and underwent standardized magnetic resonance imaging, neurological examination and neuropsychological testing at the baseline and regular intervals for up to three years. This analysis included 459 patients who received sc IFNβ-1a (44 mcg: n = 236; 22 mcg: n = 223; three-year follow up was available for 318 patients). The hazard ratio for c…
A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry
2017
Abstract Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. …
Anatomical and procedural features associated with aortic root rupture during balloon-expandable transcatheter aortic valve replacement
2013
Background— Aortic root rupture is a major concern with balloon-expandable transcatheter aortic valve replacement (TAVR). We sought to identify predictors of aortic root rupture during balloon-expandable TAVR by using multidetector computed tomography. Methods and Results— Thirty-one consecutive patients who experienced left ventricular outflow tract (LVOT)/annular/aortic contained/noncontained rupture during TAVR were collected from 16 centers. A caliper-matched sample of 31 consecutive patients without annular rupture, who underwent pre-TAVR multidetector computed tomography served as a control group. Multidetector computed tomography assessment included short- and long-axis diameters an…
Survival benefit of liver resection for patients with hepatocellular carcinoma across different Barcelona Clinic Liver Cancer stages: a multicentre s…
2015
Background & Aims The role of hepatic resection for hepatocellular carcinoma (HCC) in different Barcelona Clinic Liver Cancer (BCLC) stages is controversial. We aimed at measuring the survival benefit of resection vs. non-surgical-therapies in each BCLC stage. Methods Using the ITA.LI.CA database, we identified 2090 BCLC A, B, and C HCC patients observed between 2000 and 2012: 550 underwent resection, 1046 loco-regional therapy (LRT), and 494 best supportive care (BSC). A multivariate log-logistic model was chosen to predict median survival (MS) after resection vs. MS after LRT or BSC. The results were expressed as net survival benefit of resection: (MS resection - MS LRT)/MS BSC. Resul…
Preclinical dementia: an Italian multicentre study on amnestic mild cognitive impairment
2006
<i>Background:</i> Different rates and cognitive predictors of conversion to dementia have been reported in subjects with different kinds of mild cognitive impairment (MCI). <i>Methods:</i> A prospective, 24-month follow-up study, involving 269 subjects who strictly fulfilled criteria for the amnestic MCI. <i>Results:</i> Conversion rate to dementia was 21.4% per year. Seventy-nine out of the 83 individuals who developed dementia were affected by probable Alzheimer’s disease (AD). Among others, at the 24-month follow-up 24.1% were still affected by amnestic MCI, 13.3% had changed their neuropsychological profile of impairment and 17.2% were cognitively no…
Results of an Observational Cohort Study of Hyperuricemia as a Predictor of Poor Physical Performance in the Elderly
2017
Objective: Hyperuricemia is frequent in older people and associated with several medical conditions. The relationship between hyperuricemia and physical performance is limited. We aimed to investigate the association between hyperuricemia and physical performance over a 4.4-year followup in the elderly. Methods: A total of 1,904 community-dwelling older participants were followed for a mean of 4.4 years. Hyperuricemia at baseline was defined using serum uric acid concentrations ≥6 and ≥7 mg/dl for women and men, respectively. Objective physical performance tests measured included the Short Physical Performance Battery (SPPB), 4-meter gait speed, chair-stands time, leg extension and flexion,…