Search results for " Disability"
showing 10 items of 673 documents
Intravenous Thrombolysis in Patients Dependent on the Daily Help of Others Before Stroke
2016
Background and Purpose— We compared outcome and complications in patients with stroke treated with intravenous thrombolysis (IVT) who could not live alone without help of another person before stroke (dependent patients) versus independent ones. Methods— In a multicenter IVT-register–based cohort study, we compared previously dependent (prestroke modified Rankin Scale score, 3–5) versus independent (prestroke modified Rankin Scale score, 0–2) patients. Outcome measures were poor 3-month outcome (not reaching at least prestroke modified Rankin Scale [dependent patients]; modified Rankin Scale score of 3–6 [independent patients]), death, and symptomatic intracranial hemorrhage. Unadjusted an…
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
Scores for functional disability in patients with rheumatoid arthritis are correlated at higher levels with pain scores than with radiographic scores
2000
Objective To analyze correlations of functional disability scores with other measures of clinical status, in particular, Larsen radiographic scores and pain scores, in patients with rheumatoid arthritis (RA). Methods The functional capacity of 141 patients with RA (102 women, 39 men; median age 57 years; median disease duration 11.8 years; 83% rheumatoid factor positive) was assessed according to the Stanford Health Assessment Questionnaire (HAQ). Other variables studied included Larsen scores for radiographic damage of the small joints of the hands, wrists, and feet, pain scores by visual analog scale (VAS), Disease Activity Scores, general health scores by VAS, and Beck Depression Invento…
Defining the course of tumefactive multiple sclerosis: A large retrospective multicentre study
2021
Background and purpose: Tumefactive multiple sclerosis (TuMS) (i.e., MS onset presenting with tumefactive demyelinating lesions [TDLs]) is a diagnostic and therapeutic challenge. We performed a multicentre retrospective study to describe the clinical characteristics and the prognostic factors of TuMS. Methods: One hundred two TuMS patients were included in this retrospective study. Demographic, clinical, magnetic resonance imaging (MRI), laboratory data and treatment choices were collected. Results: TuMS was found to affect women more than men (female:male: 2.4), with a young adulthood onset (median age: 29.5 years, range: 11–68 years, interquartile range [IQR]: 38 years). At onset, 52% of …
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Parenting Stress in Mothers of Children With Autism Without Intellectual Disability. Mediation of Behavioral Problems and Coping Strategies
2019
The present study investigated the mediating role of behavioral difficulties, coping strategies, and social functional support in the relationship between symptoms severity and parenting stress in mothers of children with ASD (autism spectrum disorder). The parenting stress questionnaire, coping orientation to problems experienced scale, strengths and difficulties questionnaire, and Duke-UNC social support questionnaire were administered to 52 mothers, who also estimated the ASD severity symptoms of their children. Correlation analyses revealed that parenting stress was positively correlated with the children's ASD symptoms and behavioral problems. On the other hand, parenting stress was ne…
University Students with Reading Difficulties: Do Perceived Supports and Comorbid Difficulties Predict Well-Being and GPA?
2015
We examined the impact of the number of comorbid difficulties, social support, and community support on life satisfaction and academic achievement among 120 university students or recent graduates with self-reported reading difficulties. Participants completed a questionnaire assessing perceived social support, perceived community support, the number of comorbid difficulties in addition to reading difficulty, life satisfaction, and academic achievement (grade point average). Results supported a main effect model in which the number of comorbid difficulties and social, but not community, support predicted life satisfaction. Social and community support did not moderate the relationship betwe…
Comparative Study of Oral Health-Related Quality of Life (OHRQL) between Different Types of Orthodontic Treatment
2021
Background and objectives: Although the main objective of any orthodontic treatment is to correct malocclusion, a range of psychosocial and/or esthetic factors drive patients to undergo orthodontic treatment. The aim of the present study was to analyze variations in oral health-related quality of life (OHRQL) levels in patients undergoing orthodontic treatment by means of four types of appliances: fixed buccal metal brackets, fixed buccal esthetic/ceramic brackets, fixed lingual brackets, and clear aligners. Material and Methods: The study sample comprised 120 patients aged 18 to 68 years who attended the Orthodontic department at the Dental Clinic of the University of Valencia. The Index o…
Pursuing the Recovery of Severe Chronic Musculoskeletal Pain in Italy: Clinical and Organizational Perspectives from a SIAARTI Survey
2021
Alessandro Vittori,1 Emiliano Petrucci,2 Marco Cascella,3 Massimo Innamorato,4 Arturo Cuomo,3 Antonino Giarratano,5 Flavia Petrini,6 Franco Marinangeli7 1Department of Anesthesia and Critical Care, ARCO ROMA, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 2Department of Anesthesia and Intensive Care Unit, San Salvatore Academic Hospital of LâAquila, LâAquila, Italy; 3Department of Anesthesia and Critical Care, Istituto Nazionale Tumori - IRCCS, Fondazione Pascale, Naples, Italy; 4Department of Neuroscience, Pain Unit, Santa Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy; 5Department of Surgical, Oncological and Oral Science (Di.Chir.On.S.), Section of Anaesthesia, Anal…
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
2012
Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparent…