Search results for "onset"

Masked identity priming reflects an encoding advantage in developing readers.

2019

Abstract The masked priming technique is widely used to explore the early moments of letter and word identification. Although this technique is increasingly used in experiments with young readers, the mechanism in play during masked priming with early readers has not yet been fully explored. We investigated the masked priming effects from a modeling perspective; we instantiated competing theories as data models (using Bayes factors) and as a computational model (diffusion model). We carried out a masked priming experiment using identity primes with second- and fourth-grade participants, and we analyzed the data through an evidence accumulation model lens. The priming effect manifests as a s…

Role of cyclooxygenae-2 and 5-lypoxygenase polymorphisms in Alzheimer's disease in a population from northern Italy:implications for pharmacogenomics

2010

Alzheimer's disease (AD) is a neurodegenerative disorder clinically characterized by cognitive deficit with progressive worsening of memory. Recent data indicate that neurons, as well as other brain cells, can express enzymes such as cyclooxygenases (COXs) and 5-lipoxygenase (5-LO) which are considered important in inflammatory cells. Moreover, it has been demonstrated that COX-2 and 5-LO enzymes play a considerable role in the pathophysiology of AD. In order to assess the possible role of COX-2 and 5-LO single nucleotide polymorphisms (SNPs) in AD, we examined their distribution in 341 AD patients and 190 controls from Northern Italy. A significant difference was observed in the distributi…

Lifetime leisure-time physical activity and the risk of depressive symptoms at the ages of 65–74years: The FIN-D2D survey

2011

To investigate the association between lifetime leisure-time physical activity (LTPA) and depressive symptoms (DS) based on the population-based FIN-D2D cross-sectional survey conducted in 2007.Nine hundred twenty seven randomly selected Finnish men and women aged 65-74 years were included in this study. DS were determined with the Beck Depression Inventory (≥10 points), and lifetime historical LTPA frequency from age 15 years onwards was recalled retrospectively.The frequency of LTPA was highest at the ages of 15-24 years in both the DS present and not present groups (14.6 times per month). LTPA frequency was significantly lower among those with DS compared with those without DS at the age…

Usefulness of routine hepatitis C virus, hepatitis B virus, and parvovirus B19 serology in the diagnosis of recent-onset inflammatory arthritides.

2005

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

2013

Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotide repeat number and clinical phenotype. Here we characterize, through a new non-radioactive Southern blot protocol, the expansion size range in a series of 38 ALS and 22 FTD heterozygous carriers of >30 copies of the repeat. Maximum, median and modal hexanucleotide repeat number were higher in ALS patients than in FTD patients (P < 0.05 in all comparisons). A higher median numb…

Relationship between Cortisol Changes during the Night and Subjective and Objective Sleep Quality in Healthy Older People

2020

The aim of this study was to investigate whether the nighttime cortisol release was associated with subjective and objective sleep quality and the discrepancy between them. Forty-five healthy older adults (age range from 56 to 75 years) collected salivary samples immediately before sleep and immediately after awakening on two consecutive nights. Actigraphy was used to assess objective sleep quality and quantity. A sleep diary was used to assess subjective sleep quality. Linear mixed models were performed using subjective and objective sleep quality data from 76 nights to investigate between-subject associations. We observed that larger changes in cortisol levels between sleep onset and awak…

Acute onset of esophageal duplication cyst in adult. Case report.

2009

Esophageal duplication (ED) cyst is unusual congenital disorder of the foregut, accounting for 10% to 15% of duplications of all foregut cysts. We report a case of esophageal duplication with acute clinical presentation, treated successfully with surgical resection.46-year-old man with acute dysphagia and gastroesophageal reflux of 2 weeks duration, showed submucosal bulging mass in the posterior wall of the middle third of oesophagus, fluid-filled cystic structure, dyshomogeneous, low-attenuation mass with smooth borders compatible with an hemorrhagic esophageal duplication cyst. With the suspect of acute presentation of a complicated esophageal cyst, the patient underwent surgery by right…

Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

2008

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype. Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which r…