Search results for " Disability"
showing 10 items of 673 documents
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deaf…
1993
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstrom syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin rec…
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
2015
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…
Disability and health-related quality of life in patients undergoing spinal fusion: a comparison with a general population sample
2013
Background. The aim of the present study was to compare one-year-follow-up data on disability and health-related quality of life (HRQoL) between spinal fusion patients and age- and sex-matched general population. Methods. The data on fusion patients were collected prospectively using a spinal fusion data base in two Finnish hospitals. A general population sample matched for age, sex and residential area was drawn from the Finnish Population Register. All participants completed a questionnaire and the main outcome measures were the Oswestry Disability Index (ODI) and the Short Form-36 questionnaire (SF-36). Results. Altogether 252 (69% females) fusion patients and 682 (67% females) populatio…
Cervical spondylotic myelopathy: Changes of fractional anisotropy in the spinal cord and magnetic resonance spectroscopy of the primary motor cortex …
2019
Abstract Objective To determine the changes in fractional anisotropy (FA) at the proximal spinal cord and in magnetic resonance spectroscopy (MRS) of the precentral gyrus in patients with cervical spondylotic myelopathy (CSM) with respect to clinical symptoms and their duration. Material and Methods 20 patients with CSM (7 female; mean age 64.6 ± 10.5 years) and 18 age/sex matched healthy controls (9 female; mean age 63.5 ± 6.6 years) were prospectively included. Clinical data (modified Japanese Orthopaedic Association Score (mJOA) and Neck Disability Index (NDI)) and 3T MR measurements including DTI at the spinal cord (level C2/3) with FA and MRS of the left and right precentral gyrus were…
Disability, and not diabetes, is a strong predictor of mortality in oldest old patients hospitalized with pneumonia
2018
Abstract Background Pneumonia causes more deaths than any other infectious disease, especially in older patients with multiple chronic diseases. Recent studies identified a low functional status as prognostic factor for mortality in elderly patients with pneumonia while contrasting data are available about the role of diabetes. The aim of this study was to evaluate the in-hospital, 3-month and 1-year mortality in elderly subjects affected by pneumonia enrolled in the RePoSi register. Methods We retrospectively analyzed the data collected on hospitalized elderly patients in the frame of the REPOSI project. We analyzed the socio-demographic, laboratory and clinical characteristics of subjects…
Use of the universal pain assessment tool for evaluating pain associated with TMD in youngsters with an intellectual disability
2016
Background The Universal Pain Assessment Tool (UPAT) was used to assess the level of pain in people with limited communication skills. The UPAT enables clinicians to consult a specialized pain management team more often and lead to earlier interventions. The purpose of this study was to determine, whether the UPAT could be used as an extra tool to collect data on functional TMJ pain and to assess orofacial pain levels related to temporomandibular disorder(s) (TMD) in people with intellectual disabilities (ID). Material and Methods Non-down syndrome ID Athletes were screened during the Special Olympics European games in 2014. The clinical scores of possible functional jaw pain were collected…
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
2009
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.
Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia
2015
Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies i…
Effects of a Home-Based Physical Rehabilitation Program on Physical Disability After Hip Fracture: A Randomized Controlled Trial
2015
Abstract Objective Fewer than half of the patients with hip fracture will regain the prefracture level of physical functioning. This secondary analysis of a randomized controlled trial investigated the effects of a multicomponent home-based rehabilitation program (ProMo) on physical disability after hip fracture. Design Randomized, controlled, parallel-group trial. Setting Rehabilitation in participants' homes; measurements in university-based laboratory and local hospital. Participants Population-based clinical sample of community-dwelling people older than 60 years (n = 81) operated for hip fracture were randomized into intervention and control groups. Intervention The year-long intervent…
Evaluation of Fitness and the Balance Levels of Children with a Diagnosis of Juvenile Idiopathic Arthritis: A Pilot Study
2017
Background: Juvenile idiopathic arthritis is a main cause of physical disability and has high economic costs for society. The purpose of this study was to assess the fitness levels and the postural and balance deficits with a specific test battery. Methods: Fifty-six subjects were enrolled in this study. Thirty-nine healthy subjects were included in the control group and seventeen in the juvenile idiopathic arthritis group. All subjects were evaluated using a posturography system. The fitness level was evaluated with a battery of tests (Abalakov test, sit-up test, hand grip test, backsaver sit and reach, the toe touch test). An unpaired t-test was used to determine differences. Pearson’s co…