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https://www.readbyqxmd.com/read/29667705/intellectual-disability-in-cerebral-palsy-a-population-based-retrospective-study
#1
Susan M Reid, Elaine M Meehan, Sarah J Arnup, Dinah S Reddihough
AIM: A population-based observational study design was used to describe the epidemiology of intellectual disability in cerebral palsy (CP) in terms of clinical and neuroimaging associations, and to report the impact of intellectual disability on utilization of health services and length of survival. METHOD: Population CP registry data were used to retrospectively assess the frequency of intellectual disability and strength of associations between intellectual disability and mobility, epilepsy, vision, hearing, communication, and neuroimaging patterns (n=1141)...
April 18, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29667152/falls-in-mexican-older-adults-aged-60-years-and-older
#2
Luis M Valderrama-Hinds, Soham Al Snih, Nai-Wei Chen, Martin A Rodriguez, Rebeca Wong
BACKGROUND: Falls are a major cause of disability, morbidity, institutionalization, and mortality in older adults. OBJECTIVES: The purpose of the study was to examine the risk factors for falls among Mexican older adults aged 60 years and older. METHODS: This study included 6247 participants and their spouse or partner aged 60 years and older from the Mexican Health and Aging Study, an ongoing longitudinal study (2001-2012) conducted in Mexico...
April 17, 2018: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/29666163/neurodevelopmental-impairment-among-extremely-preterm-infants-in-the-neonatal-research-network
#3
Ira Adams-Chapman, Roy J Heyne, Sara B DeMauro, Andrea F Duncan, Susan R Hintz, Athina Pappas, Betty R Vohr, Scott A McDonald, Abhik Das, Jamie E Newman, Rosemary D Higgins
OBJECTIVES: Evaluate the spectrum of neurodevelopmental outcome in a contemporary cohort of extremely preterm infants. We hypothesize that the rate of severe neurodevelopmental impairment (NDI) decreases over time. METHODS: Retrospective analysis of neurodevelopmental outcome of preterm infants ≤27 weeks' gestational age (GA) from a Neonatal Research Network center that completed neurodevelopmental follow-up assessments between April 1, 2011, and January 1, 2015...
April 17, 2018: Pediatrics
https://www.readbyqxmd.com/read/29662891/transient-abnormalities-in-masking-tuning-curve-in-early-progressive-hearing-loss-mouse-model
#4
Marion Souchal, Ludimila Labanca, Sirley Alves da Silva Carvalho, Luciana Macedo de Resende, Christelle Blavignac, Paul Avan, Fabrice Giraudet
Damage to cochlear outer hair cells (OHCs) usually affects frequency selectivity in proportion to hearing threshold increase. However, the current clinical heuristics that attributes poor hearing performance despite near-normal auditory sensitivity to auditory neuropathy or "hidden" synaptopathy overlooks possible underlying OHC impairment. Here, we document the part played by OHCs in influencing suprathreshold auditory performance in the presence of noise in a mouse model of progressive hair cell degeneration, the CD1 strain, at postnatal day 18-30 stages when high-frequency auditory thresholds remained near-normal...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29661615/a-perspective-on-brain-behavior-relationships-and-effects-of-age-and-hearing-using-speech-in-noise-stimuli
#5
REVIEW
Curtis J Billings, Brandon M Madsen
Understanding speech in background noise is often more difficult for individuals who are older and have hearing impairment than for younger, normal-hearing individuals. In fact, speech-understanding abilities among older individuals with hearing impairment varies greatly. Researchers have hypothesized that some of that variability can be explained by how the brain encodes speech signals in the presence of noise, and that brain measures may be useful for predicting behavioral performance in difficult-to-test patients...
March 31, 2018: Hearing Research
https://www.readbyqxmd.com/read/29661332/voice-disorders-in-the-elderly
#6
REVIEW
Karen M Kost, Robert T Sataloff
Presbyphonia is more common than appreciated by most physicians, and it is associated with undesirable vocal characteristics such as hoarseness, weakness, breathiness, instability, and tremulousness. Hearing impairment in the patient or his or her friends, family, and associates exacerbates the problem, resulting in depression and social withdrawal, further reducing quality of life. Moreover, voice weakness and instability are all too often misinterpreted as reflecting intellectual instability. Expert diagnosis, medical treatment, voice therapy and training, and occasionally surgery usually can maintain or restore vocal stability and "youth...
May 2018: Clinics in Geriatric Medicine
https://www.readbyqxmd.com/read/29658522/effects-of-anthropometric-factors-on-postural-stability-in-individuals-with-hearing-impairment
#7
Agnieszka Zdrodowska, Ida Wiszomirska, Katarzyna Kaczmarczyk, Andrzej Kosmol
PURPOSE: Identification of factors that affect postural stability may help to improve diagnostic accuracy and enhance the quality of treatment and rehabilitation. This study sought to assess the relationship between postural stability parameters and anthropometric factors of persons with hearing impairment (HI). METHODS: The study included 128 individuals - 42 subjects with HI and 86 without HI (healthy controls). Research methodology included an interview and a medical examination, anthropometric measurements and stabilometric tests on platforms with stable and unstable surfaces...
2018: Acta of Bioengineering and Biomechanics
https://www.readbyqxmd.com/read/29656928/benign-paroxysmal-migraine-variants-of-infancy-and-childhood-transitions-and-clinical-features
#8
Jacob Brodsky, Karampreet Kaur, Talia Shoshany, Sophie Lipson, Guangwei Zhou
INTRODUCTION: Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM). METHODS: We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#9
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29655975/vestibular-and-balance-function-is-often-impaired-in-children-with-profound-unilateral-sensorineural-hearing-loss
#10
Meirav Sokolov, Karen A Gordon, Melissa Polonenko, Susan I Blaser, Blake C Papsin, Sharon L Cushing
RATIONALE: Children with unilateral deafness could have concurrent vestibular dysfunction which would be associated with balance deficits and potentially impair overall development. The prevalence of vestibular and balance deficits remains to be defined in these children. METHODS: Twenty children with unilateral deafness underwent comprehensive vestibular and balance evaluation. RESULTS: Retrospective review revealed that more than half of the cohort demonstrated some abnormality of the vestibular end organs (otoliths and horizontal canal), with the prevalence of end organ specific dysfunction ranging from 17 to 48% depending on organ tested and method used...
April 3, 2018: Hearing Research
https://www.readbyqxmd.com/read/29655940/audio-visual-speech-processing-in-age-related-hearing-loss-stronger-integration-and-increased-frontal-lobe-recruitment
#11
Stephanie Rosemann, Christiane M Thiel
Hearing loss is associated with difficulties in understanding speech, especially under adverse listening conditions. In these situations, seeing the speaker improves speech intelligibility in hearing-impaired participants. On the neuronal level, previous research has shown cross-modal plastic reorganization in the auditory cortex following hearing loss leading to altered processing of auditory, visual and audio-visual information. However, how reduced auditory input effects audio-visual speech perception in hearing-impaired subjects is largely unknown...
April 12, 2018: NeuroImage
https://www.readbyqxmd.com/read/29655659/a-v1143f-mutation-in-the-neuronal-enriched-isoform-2-of-the-pmca-pump-is-linked-with-ataxia
#12
Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis were found to play a pivotal role in neurodegenerative progression. The maintenance of proper Ca2+ signaling in neurons demands the continuous activity of Ca2+ pumps and exchangers to guarantee physiological cytosolic concentration of the cation. The plasma membrane Ca2+ ATPases (PMCA pumps) play a key role in the regulation of Ca2+ handling in selected sub-plasma membrane microdomains...
April 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29649601/adjuvant-non-bacteriolytic-and-anti-inflammatory-combination-therapy-in-pneumococcal-meningitis-an-investigation-in-a-mouse-model
#13
Matthias Klein, Christopher Höhne, Barbara Angele, Tobias Högen, Hans-Walter Pfister, Hatice Tüfekci, Uwe Koedel
OBJECTIVES: Therapy with antibiotics, dexamethasone, and supportive intensive care has improved the prognosis of pneumococcal meningitis but mortality remains high. Here, we investigated an adjunctive combination therapy of the non-bacteriolytic antibiotic daptomycin plus several anti-inflammatory agents to identify the currently most promising adjunctive combination therapy for pneumococcal meningitis. METHODS: C57BL/6 mice were infected by injection of pneumococci into the cisterna magna...
April 9, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29629332/extent-of-awareness-regarding-oral-health-and-dental-treatment-needs-among-individuals-with-hearing-and-speech-impairments-in-saudi-arabia
#14
Mohammed Mustafa, Faris Yahya I Asiri, Shahad AlGhannam, Ibrahim Ali Mohammed AlQarni, Mohammed Abdullah AlAteeg, Sukumaran Anil
Objective: This study aims to evaluate the awareness level of the individuals with hearing and speech impairments (deaf and dumb individuals), in relation to their oral health and dental treatment needs. Materials and Methods: The approach of stratified randomization method of sampling was used for the selection of participants. About 240 people with hearing and speech impairments (deaf and dumb) were selected from four cities of Saudi Arabia, which includes AlKharj, Riyadh, Dammam and Abha...
January 2018: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/29625343/rapid-exhaustion-of-auditory-neural-conduction-in-a-prototypical-mitochondrial-disease-friedreich-ataxia
#15
Fabrice Giraudet, Perrine Charles, Thierry Mom, Odile Boespflug-Tanguy, Alexandra Dürr, Paul Deltenre, Paul Avan
OBJECTIVES: In patients with Friedreich ataxia (FRDA), mitochondrial failure leads to impaired cellular energetics. Since many FRDA patients have impaired hearing in noise, we investigated the objective consequences on standard auditory brainstem-evoked responses (ABRs). METHODS: In 37 FRDA patients, among whom 34 with abnormal standard ABRs, hearing sensitivity, speech-in-noise intelligibility and otoacoustic emissions were controlled. ABR recordings were split into four consecutive segments of the total time frame used for data collection, thus allowing the dynamics of ABR averaging to be observed...
March 27, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29624539/tinnitus-depression-anxiety-and-suicide-in-recent-veterans-a-retrospective-analysis
#16
Erin Martz, Chennettée Jelleberg, Deborah D Dougherty, Charles Wolters, Aaron Schneiderman
OBJECTIVES: The purpose of this project was to investigate whether there is an association between tinnitus diagnosis and suicide and whether depression and anxiety strengthen that association. Given that tinnitus is the top service-connected disability among U.S. Veterans (Veterans Benefits Administration, 2016) and that suicide among Veterans has been occurring at a higher frequency as compared with community suicide rates (Hoffmire et al., 2015), the possible associations between tinnitus and suicide will be explored...
April 5, 2018: Ear and Hearing
https://www.readbyqxmd.com/read/29620637/decreased-postural-control-in-people-with-moderate-hearing-loss
#17
Ewan Thomas, Francesco Martines, Antonino Bianco, Giuseppe Messina, Valerio Giustino, Daniele Zangla, Angelo Iovane, Antonio Palma
Balance is a complex process that involves multiple sensory integrations. The auditory, visual, and vestibular systems are the main contributors. Hearing loss or hearing impairment may induce inappropriate postural strategies that could affect balance and therefore increase the risk of falling.The aim of this study was to understand whether hearing loss could influence balance, cervical posture, and muscle activation in the cervical region.Thirteen patients (61 ± 13 years; 161.8 ± 11.0 cm; 70.5 ± 15...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29619109/polysomnography-applied-to-patients-with-tinnitus-a-review
#18
REVIEW
Liane Sousa Teixeira, Ronaldo Campos Granjeiro, Carlos Augusto Pires de Oliveira, Fayez Bahamad Júnior
Introduction  Tinnitus has been defined as an "auditory phantom perception," meaning that tinnitus results from an abnormal activity within the nervous system, in the absence of any internal or external acoustic stimulation. About 10 to 15% of the adult population is affected by tinnitus, and a relevant percentage of tinnitus sufferers experience symptoms severe enough to significantly affect quality of life, including sleep disturbances, work impairment, and, in some cases, psychiatric distress...
April 2018: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/29615807/an-intronic-mutation-in-chd7-creates-a-cryptic-splice-site-causing-aberrant-splicing-in-a-mouse-model-of-charge-syndrome
#19
Jacqueline M Ogier, Benedicta D Arhatari, Marina R Carpinelli, Bradley K McColl, Michael A Wilson, Rachel A Burt
Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing. Clinical exome analyses largely ignore intronic sequence, limiting the detection of mutations to within coding regions. We describe 'Trooper', a novel mouse model of CHARGE syndrome harbouring a pathogenic point mutation in Chd7. The mutation is 18 nucleotides upstream of exon 10 and creates a cryptic acceptor site, causing exon skipping and partial intron retention...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#20
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
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