Search results for " Disability"

X-inactivation pattern in three cases of X/autosome translocation.

1978

We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…

Effect of childhood developmental coordination disorder on adulthood physical activity; Arvo Ylppö longitudinal study

2022

Publisher Copyright: © 2022 The Authors. Scandinavian Journal of Medicine & Science In Sports published by John Wiley & Sons Ltd. Individuals at risk of Developmental Coordination Disorder (DCD) have low levels of physical activity in childhood due to impaired motor competence; however, physical activity levels in adulthood have not been established. This study sought to determine the impact of DCD risk on physical activity levels in adults using accelerometry measurement. Participants (n = 656) from the Arvo Ylppö Longitudinal Study cohort had their motor competence assessed at the age of five years, and their physical activity quantified via device assessment at the age of 25 years. Betwe…

Reliability and Validity of a New Objective Tool for Low Back Pain Functional Assessment

2011

Study design Classification and functional assessment model for nonspecific low back pain (LBP) patients and controls on the basis of kinematic analysis parameters. Objective Develop a logistic regression model using kinematic analysis variables to (1) discriminate between LBP patients and controls and (2) obtain objective parameters for LBP functional assessment. Summary of background data Functional assessment of spinal disorders has been carried out traditionally by means of subjective scales. Objective functional techniques have been developed, which usually involve the application of external loads or the analysis of highly standardized trunk flexion-extension maneuvers. Few studies ha…

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Further validation of the Scoliosis Research Society (SRS-30) questionnaire among adult patients with degenerative spinal disorder.

2019

Purpose The Scoliosis Research Society (SRS-30) questionnaire proved valid in measuring health-related quality of life (HRQoL) in adult patients with spinal deformity or degenerative disease. This study further assesses the validity of the SRS-30 by comparing its results with other HRQoL instruments, such as Oswestry disability index (ODI) and the RAND-36, among unselected adult patients with degenerative spinal disorder. Materials and methods 628 consecutive patients completed the SRS-30, the ODI, the pain visual analog scale (VAS), and RAND-36 questionnaires. Using a 9 mm minimal important difference threshold of the VAS, patients were divided into three groups of symptom location: back p…

Psychometric properties of 12-item self-administered World Health Organization disability assessment schedule 2.0 (WHODAS 2.0) among general populati…

2019

WHODAS 2.0 is a unified scale to measuring disability across diseases, countries, and cultures. The objective was to explore the available evidence on the psychometric properties of 12-item self-administered WHODAS 2.0 among a general population and people with non-acute physical causes of disability.Five databases Medline, Embase, Web of Science, Scopus, and PsycINFO were searched for papers related to the validity, reliability, responsiveness, minimal clinically important difference or minimal detectable change of 12-item self-administered WHODAS 2.0. In order to avoid missing any potentially relevant studies, the search clauses were left as generic as possible and the refining search was…

Prevalence and features of delirium in older patients admitted to rehabilitation facilities

2022

Background: Delirium is thought to be common across various settings of care; however, still little research has been conducted in rehabilitation. Aim: We investigated the prevalence of delirium, its features and motor subtypes in older patients admitted to rehabilitation facilities during the three editions of the “Delirium Day project”. Methods: We conducted a cross-sectional study in which 1237 older patients (age ≥ 65 years old) admitted to 50 Italian rehabilitation wards during the three editions of the “Delirium Day project” (2015 to 2017) were included. Delirium was evaluated through the 4AT and its motor subtype with the Delirium Motor Subtype Scale. Results: Delirium was detected i…

The Paradigm of Life Extension

2010

Impaired parietal magnitude processing in developmental dyscalculia

2007

Summary Developmental dyscalculia (DD) is a specific learning disability affecting the acquisition of school-level mathematical abilities in the context of otherwise normal academic achievement, with prevalence estimates in the order of 3–6% [1] . Behavioural studies show deficits in elementary numerical processing among individuals with pure DD [2,3], indicating that deficits in higher-level mathematical skills may stem from impaired representation and processing of basic numerical magnitude. Adult neuropsychological and neuroimaging research points to the intraparietal sulcus as a key region for the representation and processing of numerical magnitude [4]. This raises the possibility of a…

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

2006

Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with dis…