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https://www.readbyqxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#1
E Ranza, C Huber, N Levin, G Baujat, C Bole-Feysot, P Nitschke, C Masson, Y Alanay, L Al-Gazali, P Bitoun, O Boute, P Campeau, C Coubes, M McEntagart, N Elcioglu, L Faivre, A Gezdirici, D Johnson, E Mihci, B G Nur, L Perrin, C Quelin, P Terhal, B Tuysuz, V Cormier-Daire
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG)...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28228730/a-signature-of-circulating-micrornas-predicts-the-susceptibility-of-acute-mountain-sickness
#2
Bao Liu, He Huang, Gang Wu, Gang Xu, Bing-Da Sun, Er-Long Zhang, Jian Chen, Yu-Qi Gao
Background: Acute mountain sickness (AMS) is a common disabling condition in individuals experiencing high altitudes, which may progress to life-threatening high altitude cerebral edema. Today, no established biomarkers are available for prediction the susceptibility of AMS. MicroRNAs emerge as promising sensitive and specific biomarkers for a variety of diseases. Thus, we sought to identify circulating microRNAs suitable for prediction the susceptible of AMS before exposure to high altitude. Methods: We enrolled 109 healthy man adults and collected blood samples before their exposure to high altitude...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28228654/low-ft3-a-possible-marker-of-frailty-in-the-elderly
#3
Aldo Bertoli, Alessia Valentini, Maria Assunta Cianfarani, Elena Gasbarra, Umberto Tarantino, Massimo Federici
INTRODUCTION: Frailty is associated with a functional decline of multiple physiological systems, of which they may be a cause or consequence. The objective of the study was to evaluate the prevalence of thyroid hormone modifications in elderly frail subjects and its relationship with frailty. STUDY POPULATION AND METHODS: An observational study was carried out at the University Hospital "Tor Vergata" in Rome among ambulatory and hospitalized patients. The study population consisted of 112 elderly subjects: 62 were hospitalized following hip fracture and 50 control subjects were outpatients...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28226669/seizure-detection-using-dynamic-warping-for-patients-with-intellectual-disability
#4
Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Yan Wu, Johan B A M Arends, Lei Wang, Pierre J M Cluitmans, Xi Long
Electroencephalography (EEG) is paramount for both retrospective analysis and real-time monitoring of epileptic seizures. Studies have shown that EEG-based seizure detection is very difficult for a specific epileptic population with intellectual disability due to the cerebral development disorders. In this work, a seizure detection method based on dynamic warping (DW) is proposed for patients with intellectual disability. It uses an EEG template of an individual subject's dominant seizure type, to extract the morphological features from EEG signals...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225843/-poverty-and-mental-disability-in-the-criminal-law-the-invisibles
#5
Ezequiel N Mercurio
In recent decades neuroscience research show the negative consequences of poverty in cognitive development. Environmental factors, such as material deprivation, exposure to stressful situations, violence, nutritional deprivation, environmental toxins may shape the developing brain. The changes of the structure and function of the brain since prenatal stages and their consequences can remain stable throughout the life cycle except early interventions are made. Research investigating have found significant link between child poverty and function and structural brain focusing on prefrontal cortex (i...
May 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28225842/-lopes-vs-brazil-case-psychiatry-and-international-human-rights-law-in-the-real-life
#6
Laura D Sobredo
In order to understand and adjust to the legal obligations that rule our professional practice as psychiatrists, it is useful to know the regulatory framework and its internal logic. The analysis of the case "Ximenes Lopes vs Brazil" (2006), from the Inter-American Court of Human Rights, intends to be, within this work, a contribution to understand those norms. The Inter-American Court of Human Rights conducts litigation that decides on the responsibility of Member States in alleged violations of human rights...
May 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28223787/comparing-the-predictive-accuracy-of-frailty-comorbidity-and-disability-for-mortality-a-1-year-follow-up-in-patients-hospitalized-in-geriatric-wards
#7
Martin Ritt, Julia Isabel Ritt, Cornel Christian Sieber, Karl-Günter Gaßmann
BACKGROUND: Studies evaluating and comparing the power of frailty, comorbidity, and disability instruments, together and in parallel, for predicting mortality are limited. OBJECTIVE: This study aimed to evaluate and compare the measures of frailty, comorbidity, and disability in predicting 1-year mortality in geriatric inpatients. DESIGN: Prospective cohort study. PATIENTS AND SETTING: A total of 307 inpatients aged ≥65 years in geriatric wards of a general hospital participated in the study...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28213300/experiences-of-stigma-and-discrimination-faced-by-family-caregivers-of-people-with-schizophrenia-in-india
#8
Mirja Koschorke, R Padmavati, Shuba Kumar, Alex Cohen, Helen A Weiss, Sudipto Chatterjee, Jesina Pereira, Smita Naik, Sujit John, Hamid Dabholkar, Madhumitha Balaji, Animish Chavan, Mathew Varghese, R Thara, Vikram Patel, Graham Thornicroft
Stigma associated with schizophrenia significantly affects family caregivers, yet few studies have examined the nature and determinants of family stigma and its relationship to their knowledge about the condition. This paper describes the experiences and determinants of stigma reported by the primary caregivers of people living with schizophrenia (PLS) in India. The study used mixed methods and was nested in a randomised controlled trial of community care for people with schizophrenia. Between November 2009 and October 2010, data on caregiver stigma and functional outcomes were collected from a sample of 282 PLS-caregiver dyads...
February 1, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28212161/hearing-impairment-and-the-amelioration-of-avoidable-medical-error-a-cross-sectional-survey
#9
Patrick Henn, Colm OʼTuathaigh, Darrelle Keegan, Simon Smith
OBJECTIVES: Hearing loss contributes to suboptimal medical treatment. We investigated the nature and magnitude of potential health-care harm of hearing loss alone on a patient's understanding of medical consultations, investigations, and treatments of health conditions unrelated to their hearing loss. METHODS: A cross-sectional, questionnaire-based design of a convenience sample of students with hearing loss, registered with the institutional disability support service in 8 Irish and 15 UK third-level institutions...
February 16, 2017: Journal of Patient Safety
https://www.readbyqxmd.com/read/28210872/responsiveness-and-minimum-important-change-of-the-oswestry-disability-index-in-italian-subjects-with-symptomatic-lumbar-spondylolisthesis
#10
Carla Vanti, Silvano Ferrari, Jorge Hugo Villafañe, Pedro Berjano, Marco Monticone
BACKGROUND: This study aims to investigate the responsiveness and the minimum important change of the Italian version of the Oswestry Disability Index (ODI-I) in subjects with symptomatic specific low back pain associated with lumbar spondylolisthesis (SPL). MATERIALS AND METHODS: One hundred and fifty-one patients with symptomatic SPL completed the ODI-I, a 0-100 numerical rating scale (NRS), and performed the prone and supine bridge tests. The global perception of effectiveness was measured with a 7-point Likert scale...
February 16, 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/28208966/study-of-parental-perceptions-on-health-social-needs-of-children-with-neuro-developmental-disability-and-it-s-impact-on-the-family
#11
Nusrat Jahan Rafique Ansari, Ramchandra Keshav Dhongade, Preeti Sagar Lad, Ashwin Borade, Suvarna Yg, Vishal Yadav, Ashwini Mehetre, Rahul Kulkarni
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28206826/the-nine-hole-peg-test-as-a-manual-dexterity-performance-measure-for-multiple-sclerosis
#12
Peter Feys, Ilse Lamers, Gordon Francis, Ralph Benedict, Glenn Phillips, Nicholas LaRocca, Lynn D Hudson, Richard Rudick
Impaired manual dexterity is a frequently reported disability in people with multiple sclerosis (MS) and is increasingly prevalent with worsening disease. While various tests and patient-reported outcome measures are available, the Nine-Hole Peg Test (NHPT) is considered as a gold standard measure of manual dexterity and most frequently used in MS research and clinical practice. The MS Outcome Assessments Consortium (MSOAC) includes representatives from advocacy organizations, Food and Drug Administration (FDA), European Medicines Agency (EMA), National Institute of Neurological Disorders and Stroke (NINDS), academic institutions, and industry partners along with persons living with MS...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28187811/determinants-of-prognosis-in-neurocatastrophes
#13
K Sharma, R D Stevens
A neurocatastrophe or severe brain injury (SBI) is a central nervous system insult associated with a high likelihood of death or severe disability. While many etiologic processes may lead to SBI, the most common and best-studied clinical paradigms are traumatic brain injury and anoxic-ischemic encephalopathy following cardiac arrest. Clinical phenotypes following SBI include acute and chronic disorders of consciousness as well as a range of cognitive and behavioral impairments. A fundamental task for medical teams working in the acute phase is to estimate SBI recovery probabilities with the highest degree of accuracy possible...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28187733/early-detection-of-copd-patients-in-gold-0-population-an-observational-non-interventional-cohort-study-marko-study
#14
Žarko Vrbica, Marina Labor, Ivan Gudelj, Slavica Labor, Iva Jurić, Davor Plavec
BACKGROUND: Main risk factor for the development of chronic obstructive pulmonary disease (COPD) is smoking, although only less than 1/3 of smokers develop clinically manifest COPD. COPD's progressive nature with high disability and mortality makes it plausible to detect it as early as possible thus allowing for an early intervention. The only tool for an early diagnosis that could be used on the global scale is spirometry, even though symptoms and deprivation of health related quality of life (HRQoL) precede relevant spirometric changes...
February 10, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28183337/the-added-value-of-kinematic-evaluation-of-the-timed-finger-to-nose-test-in-persons-post-stroke
#15
Gudrun M Johansson, Helena Grip, Mindy F Levin, Charlotte K Häger
BACKGROUND: Upper limb coordination in persons post-stroke may be estimated by the commonly used Finger-to-Nose Test (FNT), which is also part of the Fugl-Meyer Assessment. The total movement time (TMT) is used as a clinical outcome measure, while kinematic evaluation also enables an objective quantification of movement quality and motor performance. Our aims were to kinematically characterize FNT performance in persons post-stroke and controls and to investigate the construct validity of the test in persons with varying levels of impairment post-stroke...
February 10, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28183307/development-and-validation-of-an-early-childhood-development-scale-for-use-in-low-resourced-settings
#16
Dana Charles McCoy, Christopher R Sudfeld, David C Bellinger, Alfa Muhihi, Geofrey Ashery, Taylor E Weary, Wafaie Fawzi, Günther Fink
BACKGROUND: Low-cost, cross-culturally comparable measures of the motor, cognitive, and socioemotional skills of children under 3 years remain scarce. In the present paper, we aim to develop a new caregiver-reported early childhood development (ECD) scale designed to be implemented as part of household surveys in low-resourced settings. METHODS: We evaluate the acceptability, test-retest reliability, internal consistency, and discriminant validity of the new ECD items, subscales, and full scale in a sample of 2481 18- to 36-month-old children from peri-urban and rural Tanzania...
February 9, 2017: Population Health Metrics
https://www.readbyqxmd.com/read/28181873/does-protecting-older-workers-from-discrimination-make-it-harder-to-get-hired-evidence-from-disability-discrimination-laws
#17
David Neumark, Joanne Song, Patrick Button
We explore the effects of disability discrimination laws on hiring of older workers. A concern with antidiscrimination laws is that they may reduce hiring by raising the cost of terminations and-in the specific case of disability discrimination laws-raising the cost of employment because of the need to accommodate disabled workers. Moreover, disability discrimination laws can affect nondisabled older workers because they are fairly likely to develop work-related disabilities, but are generally not protected by these laws...
January 2017: Research on Aging
https://www.readbyqxmd.com/read/28180139/metabolomic-signatures-associated-with-disease-severity-in-multiple-sclerosis
#18
Pablo Villoslada, Cristina Alonso, Ion Agirrezabal, Ekaterina Kotelnikova, Irati Zubizarreta, Irene Pulido-Valdeolivas, Albert Saiz, Manuel Comabella, Xavier Montalban, Luisa Villar, Jose Carlos Alvarez-Cermeño, Oscar Fernández, Roberto Alvarez-Lafuente, Rafael Arroyo, Azucena Castro
OBJECTIVE: To identify differences in the metabolomic profile in the serum of patients with multiple sclerosis (MS) compared to controls and to identify biomarkers of disease severity. METHODS: We studied 2 cohorts of patients with MS: a retrospective longitudinal cohort of 238 patients and 74 controls and a prospective cohort of 61 patients and 41 controls with serial serum samples. Patients were stratified into active or stable disease based on 2 years of prospective assessment accounting for presence of clinical relapses or changes in disability measured with the Expanded Disability Status Scale (EDSS)...
March 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28176431/comparison-between-clinical-gait-and-daily-life-gait-assessments-of-fall-risk-in-older-people
#19
Matthew A Brodie, Milou J Coppens, Andreas Ejupi, Yves J Gschwind, Janneke Annegarn, Daniel Schoene, Rainer Wieching, Stephen R Lord, Kim Delbaere
AIM: Falls are a leading cause of disability in older people. Here we investigate if daily-life gait assessments are better than clinical gait assessments at discriminating between older people with and without a history of falls. METHODS: A total of 96 independent-living participants (age 75.5 ± 7.8) underwent sensorimotor, psychological and cognitive assessments, and the Timed Up and Go and 10-m walk tests. Participants wore a small pendant sensor device for a week in their home environment, from which the new remote assessments of daily-life gait were determined...
February 8, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28148465/knowledge-and-attitudes-towards-disability-in-moldova-a-qualitative-study-of-young-people-s-views
#20
Kenneth A McLean, Samantha Hardie, Abigail Paul, Gary Paul, Iain Savage, Paul Shields, Rebecca Symes, Joanna Wilson, Catherine Winstanley, Jeni Harden
BACKGROUND: People with disabilities in the Republic of Moldova continue to experience considerable discrimination and social exclusion. The Moldovan government recently affirmed their commitment to promote community integration. However, there remains limited evidence to facilitate understanding of these issues, and barriers to the integrative process. OBJECTIVE: This study explored the knowledge and attitudes towards disability of young people within Moldova. METHODS: A qualitative approach was adopted and 3 semi-structured focus group interviews were conducted with schoolchildren (n = 12), aged 13-15 years...
January 25, 2017: Disability and Health Journal
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