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Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Bas P Hartel, Martijn J H Agterberg, Ad F Snik, Henricus P M Kunst, A John V Opstal, Arjan J Bosman, Ronald J E Pennings
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localization abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localization. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification program...
October 19, 2016: Clinical Otolaryngology
Alan Pestronk, Richard Keeling, Rati Choksi
OBJECTIVE: We studied mitochondrial impairment as a factor in the pathologic equivalent of sarcopenia, muscle fiber atrophy associated with increased age. METHODS: Mitochondrial oxidative enzyme activities and coenzyme Q10 levels were measured in frozen human proximal limb muscles with combined age and atrophy, age alone, atrophy alone, denervation, immune myopathies, and mitochondrial disorders with ophthalmoplegia. RESULTS: Sarcopenia (age and atrophy) had reduced mean activities of mitochondrial Complexes I, II, and II+III, with severe reduction of Complex I activity in 54% of patients...
October 19, 2016: Muscle & Nerve
Sarah Youssof, Carol Romero-Clark, Teddy Warner, Emily Plowman
INTRODUCTION: The Swallowing Quality of Life instrument (SWAL-QOL) is a patient-reported outcome (PRO) measure of swallowing-related quality of life (SR-QoL). Its psychometric properties in oculopharyngeal muscular dystrophy (OPMD) are not known. METHODS: We administered the SWAL-QOL to U.S. OPMD Registry participants. We described SR-QoL profiles and assessed reliability and validity. RESULTS: Mean composite score in 113 individuals with OPMD was 54...
October 19, 2016: Muscle & Nerve
Rosemary Fama, Edith V Sullivan, Stephanie A Sassoon, Adolf Pfefferbaum, Natalie M Zahr
BACKGROUND: Executive functioning and episodic memory impairment occur in HIV infection (HIV) and chronic alcoholism (ALC). Comorbidity of these conditions (HIV + ALC) is prevalent and heightens risk of vulnerability to separate and compounded deficits. Age and disease-related variables can also serve as mediators of cognitive impairment and should be considered, given the extended longevity of HIV-infected individuals in this era of improved pharmacological therapy. METHODS: HIV, ALC, HIV + ALC, and normal controls (NC) were administered traditional and computerized tests of executive function and episodic memory...
October 19, 2016: Alcoholism, Clinical and Experimental Research
Suzy L Wong
BACKGROUND: Reduced muscular strength is associated with an increased risk of all-cause, cardiovascular and non-cardiovascular mortality, heart attack and stroke. At older ages, reduced strength is associated with impaired mobility, risk of falls, and disability. Various criteria are used to determine reduced strength. DATA AND METHODS: Data on grip strength among 3,181 respondents aged 60 to 79 from the 2007 to 2013 Canadian Health Measures Survey were used to calculate the prevalence of reduced strength based on sex-specific percentile and t-score cut-points and cut-points of the Foundation for the National Institutes of Health...
October 19, 2016: Health Reports
Giuseppe Pastura, Tadeu Takao Almodovar Kubo, Maria Angélica Regalla, Cíntia Machado Mesquita, Gabriel Coutinho, Emerson Leandro Gasparetto, Otávio Figueiredo, Paulo Mattos, Alexandra Prüfer de Queiroz Campos Araújo
Objective: To perform a pilot study to investigate the association between working memory and cortical thickness in a sample of attention deficit/hyperactivity disorder (ADHD) children. Methods: Seventeen children aged 7-10 years diagnosed with ADHD and 16 healthy children underwent a magnetic resonance scan for cortical thickness measurements. Data was correlated with working memory performance using the Backwards Digit Span subtest of the Wechsler Intelligence Scale for Children...
October 2016: Arquivos de Neuro-psiquiatria
Ignacio Jusué-Torres, Lee H Jeon, Eric W Sankey, Jennifer Lu, Tito Vivas-Buitrago, Joshua A Crawford, Mikhail V Pletnikov, Jiadi Xu, Ari Blitz, Daniel A Herzka, Barbara Crain, Alicia Hulbert, Hugo Guerrero-Cazares, Oscar Gonzalez-Perez, James P McAllister, Alfredo Quiñones-Hinojosa, Daniele Rigamonti
BACKGROUND: The pathogenesis of adult chronic hydrocephalus is not fully understood, and the temporal relationship between development of the radiological changes and neurological deterioration is unknown. OBJECTIVE: To clarify the progression of radiological-histological changes and subsequent clinical manifestations of adult chronic hydrocephalus. METHODS: Kaolin was injected bilaterally into the subarachnoid space overlying the cranial convexities in 20 adult rats...
November 2016: Neurosurgery
Ping Wei, Jia-Wei Yang, Hai-Wen Lu, Bei Mao, Wen-Lan Yang, Jin-Fu Xu
BACKGROUND AND OBJECTIVE: There is presently no clear evidence on the effect of combined treatment for non-cystic fibrosis (non-CF) bronchiectasis with inhaled corticosteroid (ICS) and long-acting β2-adrenergic agonist (LABA). The objective of this study is to assess the efficacy and safety of salmeterol-fluticasone combined inhaled therapy for non-CF bronchiectasis with airflow limitation. METHODS: An observational study was performed in 120 non-CF bronchiectasis patients diagnosed by high-resolution computed tomography (HRCT) scanning of the chest...
October 2016: Medicine (Baltimore)
Rui Guo, Lu Ma, Bal Krishna Shrestha, Zhiyuan Yu, Hao Li, Chao You
The aim of the study is to define the clinical features, risk factors, treatment and prognosis of idiopathic primary intraventricular hemorrhage (IPIVH).We retrospectively collected the data of consecutively admitted patients who were diagnosed and treated for IPIVH in our hospital from January 2010 to December 2014. The clinical information, treatment, and prognosis at the 6-month follow-up were analyzed.Among the 3798 cases of spontaneous intracranial hemorrhage (ICH), 98 IPIVH (2.58%) patients were recruited for the study...
October 2016: Medicine (Baltimore)
Claudia Kathe, Thomas Haynes Hutson, Stephen Brendan McMahon, Lawrence David Falcon Moon
Brain and spinal injury reduce mobility and often impair sensorimotor processing in the spinal cord leading to spasticity. Here, we establish that complete transection of corticospinal pathways in the pyramids impairs locomotion and leads to increased spasms and excessive mono- and polysynaptic low threshold spinal reflexes in rats. Treatment of affected forelimb muscles with an adeno-associated viral vector (AAV) encoding human Neurotrophin-3 at a clinically-feasible time-point after injury reduced spasticity...
October 19, 2016: ELife
Afshin Shirkani, Mohammad Shahrooei, Gholamreza Azizi, Hassan Rokni-Zadeh, Hassan Abolhassani, Shokrollah Farrokhi, Glynis Frans, Xavier Bossuyt, Asghar Aghamohammadi
ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response...
October 19, 2016: Immunological Investigations
Shannon Dorsey, Katie A McLaughlin, Suzanne E U Kerns, Julie P Harrison, Hilary K Lambert, Ernestine C Briggs, Julia Revillion Cox, Lisa Amaya-Jackson
Child and adolescent trauma exposure is prevalent, with trauma exposure-related symptoms, including posttraumatic stress, depressive, and anxiety symptoms often causing substantial impairment. This article updates the evidence base on psychosocial treatments for child and adolescent trauma exposure completed for this journal by Silverman et al. (2008). For this review, we focus on 37 studies conducted during the seven years since the last review. Treatments are grouped by overall treatment family (e.g., cognitive behavioral therapy), treatment modality (e...
October 19, 2016: Journal of Clinical Child and Adolescent Psychology
S S Garcia, Q Du, H Wu
The oral cavity is a dynamic environment characterized by hundreds of bacterial species, saliva, and an influx of nutrients and metal ions such as copper. Although there is a physiologic level of copper in the saliva, the oral cavity is often challenged with an influx of copper ions. At high concentrations copper is toxic and must therefore be strictly regulated by pathogens for them to persist and cause disease. The cariogenic pathogen Streptococcus mutans manages excess copper using the copYAZ operon that encodes a negative DNA-binding repressor (CopY), the P1-ATPase copper exporter (CopA), and the copper chaperone (CopZ)...
December 21, 2015: Molecular Oral Microbiology
Emma Sumner, Samuel B Hutton, Gustav Kuhn, Elisabeth L Hill
Children with Developmental Coordination Disorder (DCD) fail to acquire adequate motor skill, yet surprisingly little is known about the oculomotor system in DCD. Successful completion of motor tasks is supported by accurate visual feedback. The purpose of this study was to determine whether any oculomotor differences can distinguish between children with and without a motor impairment. Using eye tracking technology, visual fixation, smooth pursuit, and pro- and anti-saccade performance were assessed in 77 children that formed three groups: children with DCD (aged 7-10), chronologically age (CA) matched peers, and a motor-match (MM) group (aged 4-7)...
October 17, 2016: Developmental Science
Luisa F Castiblanco, George W Sundin
Bacterial biofilms are multicellular aggregates encased in an extracellular matrix mainly composed of exopolysaccharides (EPSs), protein, and nucleic acids, which determines the architecture of the biofilm. Erwinia amylovora Ea1189 forms a biofilm inside the xylem of its host, that results in vessel plugging and water transport impairment. Production of the EPSs amylovoran and levan are critical for the formation of a mature biofilm. Additionally, cyclic dimeric GMP (c-di-GMP) was reported to positively regulate amylovoran biosynthesis and biofilm formation in E...
October 18, 2016: Molecular Plant Pathology
H-J Kim, S-I Oh, M de Leon, X Wang, K-W Oh, J-S Park, A Deshpande, M Buj, S H Kim
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS), a motor neuron disease, is associated with various cortical symptoms including mild cognitive decline with behavior changes, suggesting the involvement of extra-motor areas in ALS. Our aim was to investigate the specific patterns of brain atrophy in sporadic, impaired ALS patients without commonly known genetic mutations using voxel-based morphometry. MATERIALS AND METHODS: Forty-seven patients with sporadic ALS and 28 age-matched healthy controls were recruited...
October 18, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Kyoung-Sim Jung, Jin-Hwa Jung, Tae-Sung In, Hwi-Young Cho
This study investigated the effects of weight-shifting exercise (WSE) combined with transcutaneous electrical nerve stimulation (TENS), applied to the erector spinae and external oblique (EO) muscles, on muscle activity and trunk control in patients with hemiparetic stroke. Sixty patients with stroke were recruited to this study and randomly distributed into three treatment groups: (1) WSE + TENS, (2) WSE + placebo TENS, and (3) control. All participants underwent 30 sessions of training (30 minutes five times per week for 6 weeks) and received 1 hour of conventional physical therapy five times per week for 6 weeks...
October 17, 2016: Occupational Therapy International
Liming Yu, Chongxi Fan, Zhi Li, Jian Zhang, Xiaodong Xue, Yinli Xu, Guolong Zhao, Yang Yang, Huishan Wang
Stress hyperglycemia is commonly observed in patients suffering from ischemic heart disease. It not only worsens cardiovascular prognosis but also attenuates the efficacies of various cardioprotective agents. This study aimed to investigate the protective effect of melatonin against myocardial ischemia-reperfusion (MI/R) injury in acute hyperglycemic state with a focus on Notch1/Hes1/Akt signaling and intracellular thioredoxin (Trx) system. Sprague-Dawley rats were subjected to MI/R surgery and high glucose (HG, 500 g/L) infusion (4 ml/kg/h) to induce temporary hyperglycemia...
October 18, 2016: Journal of Pineal Research
Alexandra S Creighton, Tanya E Davison, David W Kissane
OBJECTIVE: To synthesize and summarize the studies examining the correlates and predictors of anxiety in older adults living in residential aged care. METHODS: Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, five electronic databases were searched using key terms and subject headings, as well as reference lists of relevant papers. The search was limited to peer-reviewed literature published in English. Eligible studies examined the association between at least one correlate/factor and anxiety disorders or symptoms in aged care residents aged 50+ years...
October 17, 2016: International Journal of Geriatric Psychiatry
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