Search results for " impairment"

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

DNA and neutral lipid contents of peripheral cells as predictive biomarkers of mild cognitive impairment and Alzheimer's disease: Highlights on the i…

2014

Cultural adaptation of the Smiling is Fun program for the treatment of depression in the Ecuadorian public health care system: A study protocol for a…

2021

Background Depression is one of the world's major health problems. Due to its high prevalence, it constitutes the first cause of disability among the Americas, where only a very low percentage of the population receives the adequate evidence-based psychological treatment. Internet-Based Interventions (IBIs) are a great alternative to reduce the treatment gap for mental disorders. Although there are several studies in low-and middle-income countries proving IBIs' feasibility and acceptability, there is still little evidence of the effectiveness in diverse social and cultural contexts such as Latin America. Methods Two studies will be described: Study 1 is focused on the cultural adaptation o…

Retinal Fundus Multi-Disease Image Dataset (RFMiD): A Dataset for Multi-Disease Detection Research

2021

The world faces difficulties in terms of eye care, including treatment, quality of prevention, vision rehabilitation services, and scarcity of trained eye care experts. Early detection and diagnosis of ocular pathologies would enable forestall of visual impairment. One challenge that limits the adoption of computer-aided diagnosis tool by ophthalmologists is the number of sight-threatening rare pathologies, such as central retinal artery occlusion or anterior ischemic optic neuropathy, and others are usually ignored. In the past two decades, many publicly available datasets of color fundus images have been collected with a primary focus on diabetic retinopathy, glaucoma, age-related macular…

Accuracy of the clinical diagnosis of dementia with Lewy bodies (DLB) among the Italian Dementia Centers: a study by the Italian DLB study group (DLB…

2022

Introduction: Dementia with Lewy bodies (DLB) may represent a diagnostic challenge, since its clinical picture overlaps with other dementia. Two toolkits have been developed to aid the clinician to diagnose DLB: the Lewy Body Composite Risk Score (LBCRS) and the Assessment Toolkit for DLB (AT-DLB). We aim to evaluate the reliability of these two questionnaires, and their ability to enhance the interpretation of the international consensus diagnostic criteria. Methods: LBCRS and AT-DLB were distributed to 135 Italian Neurological Centers for Cognitive Decline and Dementia (CDCDs), with the indication to administer them to all patients with dementia referred within the subsequent 3 months. We…

On natural metalinguistic abilities in aphasia: a preliminary study

2012

Background: Natural metalinguistic abilities, which are put into play without explicit instructions, constitute the cognitive basis for a “reflexive” use of language, a particular manifestation of the executive function when applied to language and verbal behaviour. This reflexive use entails a specific attentional activity by speakers and hearers with regard to linguistic outputs, and an intentional experience-based control over the language use. Putting into play natural metalinguistic abilities can be considered a significant factor for explaining different kinds of adaptive processes. Aims: Preliminary research on natural metalinguistic abilities as manifested in people with aphasia wil…

Cirrhotic patients with minimal hepatic encephalopathy have increased capacity to eliminate superoxide and peroxynitrite in lymphocytes, associated w…

2018

Patients with minimal hepatic encephalopathy (MHE) show increased oxidative stress in blood. We aimed to assess whether MHE patients show alterations in different types of blood cells in (a) basal reactive oxygen and nitrogen species levels; (b) capacity to metabolise these species. To assess the mechanisms involved in the altered capacity to metabolise these species we also analysed: (c) peroxynitrite formation and d) peroxynitrite reaction with biological molecules. Levels of reactive oxygen and nitrogen species were measured by flow cytometry in blood cell populations from cirrhotic patients with and without MHE and controls, under basal conditions and after adding generators of superoxi…

Non invasive blood flow measurement in cerebellum detects minimal hepatic encephalopathy earlier than psychometric tests

2013

AIM: To assess whether non invasive blood flow measurement by arterial spin labeling in several brain regions detects minimal hepatic encephalopathy. METHODS: Blood flow (BF) was analyzed by arterial spin labeling (ASL) in different brain areas of 14 controls, 24 cirrhotic patients without and 16 cirrhotic patients with minimal hepatic encephalopathy (MHE). Images were collected using a 3 Tesla MR scanner (Achieva 3T-TX, Philips, Netherlands). Pulsed ASL was performed. Patients showing MHE were detected using the battery Psychometric Hepatic Encephalopathy Score (PHES) consisting of five tests. Different cognitive and motor functions were also assessed: alterations in selective attention we…

The PHES battery does not detect all cirrhotic patients with early neurological deficits, which are different in different patients.

2017

Background and aims The psychometric hepatic encephalopathy score (PHES) is the “gold standard” for minimal hepatic encephalopathy (MHE) diagnosis. Some reports suggest that some cirrhotic patients “without” MHE according to PHES show neurological deficits and other reports that neurological alterations are not homogeneous in all cirrhotic patients. This work aimed to assess whether: 1) a relevant proportion of cirrhotic patients show neurological deficits not detected by PHES; 2) cirrhotic patients with mild neurological deficits are a homogeneous population or may be classified in sub-groups according to specific deficits. Methods Cirrhotic patients “without” (n = 56) or “with” MHE (n = 4…

Premature termination of epidural analgesia—A prospective analysis to improve quality

2009

Summary Background and objective Epidural analgesia (EA) is a gold-standard in post-operative pain control. Therefore, modern treatment concepts targeting early patient recovery regularly implement EA. Due to its increasing impact, EA should meet high quality standards in respect to application and maintenance. Though, daily practice often reveals EA-related problems, our investigation aimed to improve EA quality by assessing incidence and reasons of undeliberate, premature termination of post-operative EA. Methods In the first step all patients with post-operative EA were retrospectively studied covering a 6-month period (group 1). We analysed incidences and reasons of undeliberate termina…