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https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#1
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29140768/public-health-burden-of-hearing-impairment-and-the-promise-of-genomics-and-environmental-research-a-case-study-in-ghana-africa
#2
Samuel Mawuli Adadey, Gordon Awandare, Goffrey Kwabla Amedofu, Ambroise Wonkam
Hearing impairment (HI) is one of the most disabling conditions of major global health burden that contributes adversely to the social and economic development of a country, if not managed properly. A proper assessment of the nationwide burden and etiology of HI is instrumental in the prevention, treatment, and management of the condition. This article sought to perform an expert review of HI in Ghana to determine the present knowledge of its burden and possible causes of the condition. A literature search was conducted in PubMed using the following keywords: "hearing loss" OR "hearing impairment" OR "deafness" AND "Ghana...
November 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29140645/likelihood-of-entanglement-when-materials-are-dropped-vertically-onto-a-rotating-pto-knuckle
#3
Charles V Schwab, Isaac J Rempe
Power take-off (PTO) is a common method of transferring power from a tractor to a towed piece of machinery. The PTO is also a well-documented cause of severe and often permanent disabling injuries to farm operators. The physical conditions that cause entanglements are not well established. Several studies have explored the parameters of PTO entanglements as materials have been drawn across a rotating PTO knuckle to test for entanglement probability. The objective of this study was to determine probability of entanglement when materials are dropped vertically onto a PTO knuckle spinning at 540 rpm...
November 20, 2017: Journal of Agricultural Safety and Health
https://www.readbyqxmd.com/read/29140227/categorical-improvement-in-functional-impairment-in-depressed-patients-treated-with-desvenlafaxine
#4
Claudio N Soares, Min Zhang, Matthieu Boucher
OBJECTIVE: This post-hoc pooled analysis evaluated categorical change in functional impairment in patients with major depressive disorder (MDD) treated with desvenlafaxine versus placebo and examined whether early improvement in functioning predicted functional outcomes at study endpoint. METHODS: Data were pooled from eight randomized, double-blind, placebo-controlled studies of desvenlafaxine for the treatment of MDD, including adults who were randomly assigned to receive desvenlafaxine 50 or 100 mg/d or placebo (N=3,384)...
November 15, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/29138683/the-evaluation-of-oxidative-stress-parameters-in-serum-patients-with-relapsing-remitting-multiple-sclerosis-treated-with-ii-line-immunomodulatory-therapy
#5
Bożena Adamczyk, Sławomir Wawrzyniak, Sławomir Kasperczyk, Monika Adamczyk-Sowa
Objectives: The assessment of oxidative stress (OS) in serum relapsing-remitting multiple sclerosis patients treated with II-line immunomodulatory therapy (fingolimod, natalizumab) compared to newly diagnosed patients (de novo group) treated with interferon (IFN) beta and controls. The relationship between OS parameters and gender, age, disease duration, Expanded Disability Status Scale, annualized relapse rate, MRI lesions in patients treated with II-line. Materials and Methods: One hundred and twenty-one patients with RRMS were enrolled in the study...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29137556/all-cause-30-day-readmissions-among-persons-with-intellectual-and-developmental-disabilities-and-mental-illness
#6
Robert Balogh, Elizabeth Lin, Kristin Dobranowski, Avra Selick, Andrew S Wilton, Yona Lunsky
OBJECTIVE: Early hospital readmissions within 30 days of discharge are common and costly. This research describes predictors of all-cause, 30-day hospital readmissions among persons with intellectual and developmental disabilities (IDD), a group known to experience high rates of hospitalization. METHODS: A cohort of 66,484 adults with IDD from Ontario, Canada, was used to create two subgroups: individuals with IDD only and those with IDD and mental illness. The rates of hospital readmission were determined and contrasted with a comparison subgroup of people without IDD who have mental illness...
November 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/29135773/tree-based-claims-algorithm-for-measuring-pretreatment-quality-of-care-in-medicare-disabled-hepatitis-c-patients
#7
Viktor V Chirikov, Fadia T Shaya, Ebere Onukwugha, C Daniel Mullins, Susan dosReis, Charles D Howell
BACKGROUND: To help broaden the use of machine-learning approaches in health services research, we provide an easy-to-follow framework on the implementation of random forests and apply it to identify quality of care (QC) patterns correlated with treatment receipt among Medicare disabled patients with hepatitis C virus (HCV). METHODS: Using Medicare claims 2006-2009, we identified 1936 patients with 6 months continuous enrollment before HCV diagnosis. We ran a random forest on 14 pretreatment QC indicators, extracted the forest's representative tree, and aggregated its terminal nodes into 4 QC groups predictive of treatment...
December 2017: Medical Care
https://www.readbyqxmd.com/read/29134630/successful-community-discharge-following-postacute-rehabilitation-for-medicare-beneficiaries-analysis-of-a-patient-centered-quality-measure
#8
Michael P Cary, Janet Prvu Bettger, Jessica M Jarvis, Kenneth J Ottenbacher, James E Graham
OBJECTIVE: To determine the sociodemographic and clinical characteristics as well as health services use associated with successful community discharge. DATA SOURCE: Inpatient Rehabilitation Facility-Patient Assessment Instrument and Medicare Provider Analysis and Review files. STUDY DESIGN: We retrospectively examined 167,664 Medicare beneficiaries discharged from inpatient rehabilitation facilities (IRFs) in 2013 to determine the sociodemographic and clinical characteristics as well as health services use associated with successful community discharge...
November 13, 2017: Health Services Research
https://www.readbyqxmd.com/read/29134483/evaluating-the-impact-of-dyslexia-laws-on-the-identification-of-specific-learning-disability-and-dyslexia
#9
B Anne Barber Phillips, Timothy N Odegard
Dyslexia is a specific learning disability that impacts word reading accuracy and/or reading fluency. Over half of the states in the USA have passed legislation intended to promote better identification of individuals with dyslexia. To date, no study has been conducted to investigate the potential impact of state laws on the identification of specific learning disability (SLD), and limited data has been presented on the rate at which students in public school settings are identified with dyslexia. The first aim of the current study was to determine if any detectable changes in the identification rates of SLD have occurred in states implementing dyslexia laws because most states do not report number of students identified as dyslexic but rather those students identified with an SLD...
November 13, 2017: Annals of Dyslexia
https://www.readbyqxmd.com/read/29133701/prevalence-burden-and-risk-factors-of-migraine-a-community-based-study-from-eastern-india
#10
Biman K Ray, Neelanjana Paul, Avijit Hazra, Sujata Das, Malay K Ghosal, Amar K Misra, Tapas K Banerjee, Arijit Chaudhuri, Shyamal K Das
BACKGROUND: Headache is common in communities; however, epidemiological research regarding its prevalence is infrequent in India. AIM: We planned to study the prevalence of migraine, its disease burden, and the associated risk factors. SETTING AND DESIGN: This is an urban community study conducted in Kolkata with a cross-sectional and nested case-control design. MATERIALS AND METHODS: The criteria to study headache among a representative sample (aged 20-50 years) was based on the International Classification of Headache Disorders-II...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29133315/testosterone-in-advance-age-a-new-zealand-longitudinal-cohort-study-life-and-living-in-advanced-age-te-pu%C3%A4-waitanga-o-ng%C3%A4-tapuwae-kia-ora-tonu
#11
Martin J Connolly, Ngaire Kerse, Tim Wilkinson, Oliver Menzies, Anna Rolleston, Yih Harng Chong, Joanna B Broad, Simon A Moyes, Santosh Jatrana, Ruth Teh
OBJECTIVES: Serum testosterone (T) levels in men decline with age. Low T levels are associated with sarcopenia and frailty in men aged >80 years. T levels have not previously been directly associated with disability in older men. We explored associations between T levels, frailty and disability in a cohort of octogenarian men. SETTING: Data from all men from Life and Living in Advanced Age Cohort Study in New Zealand, a longitudinal cohort study in community-dwelling older adults...
November 12, 2017: BMJ Open
https://www.readbyqxmd.com/read/29132847/a-scoping-review-on-interventions-to-promote-physical-activity-among-adults-with-disabilities
#12
REVIEW
Oscar Castro, Kwok Ng, Elizaveta Novoradovskaya, Grégoire Bosselut, Mary Hassandra
BACKGROUND: Despite the strong evidence that physical activity (PA) is a key determinant of health, there is limited knowledge on the content and outcomes of PA promotion interventions among individuals with disabilities. OBJECTIVE: To conduct a scoping review in order to examine the published literature on PA promotion interventions among adults with disabilities. METHODS: A scoping review following the methodological framework provided by Arksey and O'Malley used electronic databases (MEDLINE, PsycINFO, and CINAHL), reference lists, and journals to locate studies...
October 31, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/29132807/development-and-validation-of-the-voice-catastrophization-index
#13
Hagit Shoffel-Havakuk, Steven Chau, Edie R Hapner, Madeleine Pethan, Michael M Johns
INTRODUCTION: Catastrophization is a cognitive distortion that has been studied in pain patients and found to be a significant factor in their disability and response to treatment. Dysphonia patients may demonstrate a similar behavior, suggesting the existence of voice catastrophization. OBJECTIVE: To establish the validity of the Voice Catastrophization Index (VCI), a new instrument estimating voice symptoms catastrophization. METHODS: A prospective study...
November 10, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29132788/arthroscopic-partial-trapeziectomy-with-soft-tissue-interposition-for-symptomatic-trapeziometacarpal-arthritis-6-month-and-5-year-minimum-follow-up
#14
Anthony L Logli, Jonathan Twu, Brian J Bear, Jonathan R Lindquist, Theodore L Schoenfeldt, Kenneth J Korcek
PURPOSE: To determine if arthroscopic partial trapeziectomy (APT) and soft tissue interposition arthroplasty is an effective treatment for symptomatic trapeziometacarpal arthritis. METHODS: We retrospectively evaluated 30 consecutive patients with symptomatic isolated trapeziometacarpal arthritis, Eaton-Littler stages II and III. Treatment consisted of an APT with soft tissue interposition utilizing an acellular dermal matrix as the interposition material. At a minimum of 6 months and 5 years after surgery, Numeric Pain Rating Scale (NPRS), Quick Disabilities of the Arm, Shoulder, and Hand (QuickDASH), grip strength, oppositional and appositional pinch strengths, arthroplasty space, and thumb range of motion (ROM) were evaluated...
November 11, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29130767/using-the-international-classification-of-functioning-disability-and-health-to-identify-outcome-domains-for-a-core-outcome-set-for-aphasia-a-comparison-of-stakeholder-perspectives
#15
Sarah J Wallace, Linda Worrall, Tanya Rose, Guylaine Le Dorze
PURPOSE: This study synthesised the findings of three separate consensus processes exploring the perspectives of key stakeholder groups about important aphasia treatment outcomes. This process was conducted to generate recommendations for outcome domains to be included in a core outcome set for aphasia treatment trials. MATERIALS AND METHODS: International Classification of Functioning, Disability, and Health codes were examined to identify where the groups of: (1) people with aphasia, (2) family members, (3) aphasia researchers, and (4) aphasia clinicians/managers, demonstrated congruence in their perspectives regarding important treatment outcomes...
November 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29130705/disability-and-its-influence-in-nutritional-assessment-tools-in-elderly-people-living-in-nursing-homes
#16
Beatriz Lardiés-Sánchez, Alejandro Sanz-París, Javier Pérez-Nogueras, Antonio Serrano-Oliver, María Elena Torres-Anoro, María Dolores Ballesteros-Pomar
INTRODUCTION: Poor nutritional status is associated with increased morbidity and mortality, especially in older people. OBJECTIVE: The aim of this study was to assess nutritional status in elderly nursing home residents with different nutritional test, and to determine which parameters used for nutritional assessment can be carried out in this population, which usually have a high prevalence of functionally dependent residents. METHODS: A cross-sectional study was performed in 383 elderly...
October 24, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29130122/arhgef9-mutations-in-epileptic-encephalopathy-intellectual-disability-toward-understanding-the-mechanism-underlying-phenotypic-variation
#17
Jing-Yang Wang, Peng Zhou, Jie Wang, Bin Tang, Tao Su, Xiao-Rong Liu, Bing-Mei Li, Heng Meng, Yi-Wu Shi, Yong-Hong Yi, Na He, Wei-Ping Liao
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABAA receptor localization. ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual disability. However, the mechanism underlying phenotype variation is unknown. Using next-generation sequencing, we identified a novel mutation, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy...
November 13, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29128904/pharmacological-rescue-of-hippocampal-fear-learning-deficits-in-fragile-x-syndrome
#18
Luis A Martinez, Maria Victoria Tejada-Simon
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP). In neurons, FMRP controls the translation of synaptic plasticity proteins that are implicated in learning and memory. FMRP also regulates development- and experience-dependent actin cytoskeleton remodeling within dendritic spines through the small Rho GTPase Rac1. Modulation of Rac1 activity is critical during synaptic plasticity as well as learning and memory...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#19
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29128525/respiratory-rehabilitation-in-multiple-sclerosis-a-narrative-review-of-rehabilitation-techniques
#20
REVIEW
J Levy, H Prigent, D Bensmail
BACKGROUND: Respiratory disorders in multiple sclerosis (MS) are an important issue. They can occur early during the course of the disease, are associated with the neurological impairment, and can lead to pneumonia and respiratory failure, which are the main causes of death in advanced MS. Prevailing impaired expiratory muscles and cough abilities has been demonstrated in this population and might constitute a specific target for rehabilitation interventions. However, international guidelines lack recommendations regarding respiratory rehabilitation in MS...
November 8, 2017: Annals of Physical and Rehabilitation Medicine
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