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https://www.readbyqxmd.com/read/28092643/physical-activity-and-sedentary-time-among-children-with-disabilities-at-school
#1
Cindy H P Sit, Thomas L McKenzie, Ester Cerin, Bik C Chow, Wendy Y Huang, Jie Yu
PURPOSES: Physical activity (PA) is important for the development of children with disabilities, but rarely does this population meet the recommended standards. Schools are salient locations for PA, but little is known about how specific school settings affect the PA of children with diverse disabilities. We assessed PA and sedentary time (ST) of children with disabilities in three school settings (physical education, recess, lunchtime). METHODS: Participants included 259 children from 13 Hong Kong special schools for five primary disabilities: visual impairments, hearing impairments, physical disabilities, intellectual disabilities, and social development problems...
February 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28092246/-neonatal-hearing-screening-and-early-intervention-a-screening-program-to-evaluate-all-infants-to-identify-the-hearing-impaired
#2
Beatriz González-Jiménez, Efrén Delgado-Mendoza, Rafael Rojano-González, Florencia Valdez-Izaguirre, Pedro Gutiérrez-Aguilar, Félix Guillermo Márquez-Celedonio, Mario González-Santes
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28091778/hospital-based-surveillance-of-congenital-rubella-syndrome-in-indonesia
#3
Elisabeth Siti Herini, Gunadi, Agung Triono, Asal Wahyuni Erlin Mulyadi, Niprida Mardin, Rusipah, Yati Soenarto, Susan E Reef
: Congenital rubella syndrome (CRS) has serious consequences, such as miscarriage, stillbirth, and severe birth defects in infants, resulting from rubella virus infection during pregnancy. However, rubella vaccine has not yet been implemented in Indonesia. This study aimed (1) to estimate the incidence of CRS in Indonesia, (2) describe the clinical features of CRS at our referral hospital, and (3) pilot a CRS surveillance system to be extended to other hospitals. We conducted a 4-month prospective surveillance study of infants aged <1 year with suspected CRS in 2013 at an Indonesian hospital...
January 13, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#4
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28089734/broadening-the-phenotype-of-dfnb28-mutations-in-triobp-are-associated-with-moderate-stable-hereditary-hearing-impairment
#5
Mieke Wesdorp, Jiddeke M van de Kamp, Erik F Hensen, Margit Schraders, Jaap Oostrik, Helger G Yntema, Ilse Feenstra, Ronald J C Admiraal, Henricus P M Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer, Ronald J E Pennings
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29))...
January 12, 2017: Hearing Research
https://www.readbyqxmd.com/read/28087236/determination-of-the-feasibility-of-a-multicomponent-intervention-program-to-prevent-delirium-in-the-intensive-care-unit-a-modified-rand-delphi-study
#6
Annelies Wassenaar, Mark van den Boogaard, Underpin-Icu Study Group, Lisette Schoonhoven, Peter Pickkers
BACKGROUND: Delirium is common in Intensive Care Unit (ICU) patients and associated with poor outcome. In non-ICU patients a multicomponent intervention program with non-pharmacological interventions has shown to reduce delirium. Currently, there is insufficient evidence regarding the effects of such a program in ICU patients. We developed a draft program based on a review. As most studies were conducted in non-ICU patients, the feasibility of the program in ICU patients needs to be assessed before investigating its effectiveness...
January 10, 2017: Australian Critical Care: Official Journal of the Confederation of Australian Critical Care Nurses
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#7
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#8
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28076318/beta-cell-function-and-clinical-course-in-three-siblings-with-thiamine-responsive-megaloblastic-anemia-trma-treated-with-thiamine-supplementation
#9
Kathryn Potter, John Wu, Julie Lauzon, Josephine Ho
Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg)...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#10
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28075205/a-genomic-and-protein-protein-interaction-analyses-of-nonsyndromic-hearing-impairment-in-cameroon-using-targeted-genomic-enrichment-and-massively-parallel-sequencing
#11
Kamogelo Lebeko, Noluthando Manyisa, Emile R Chimusa, Nicola Mulder, Collet Dandara, Ambroise Wonkam
Hearing impairment (HI) is one of the leading causes of disability in the world, impacting the social, economic, and psychological well-being of the affected individual. This is particularly true in sub-Saharan Africa, which carries one of the highest burdens of this condition. Despite this, there are limited data on the most prevalent genes or mutations that cause HI among sub-Saharan Africans. Next-generation technologies, such as targeted genomic enrichment and massively parallel sequencing, offer new promise in this context...
January 11, 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28073077/hypertext-comprehension-of-deaf-and-hard-of-hearing-students-and-students-with-specific-language-impairment
#12
Helen Blom, Eliane Segers, Daan Hermans, Harry Knoors, Ludo Verhoeven
This paper provides insight into the reading comprehension of hierarchically structured hypertexts within D/HH students and students with SLI. To our knowledge, it is the first study on hypertext comprehension in D/HH students and students with SLI, and it also considers the role of working memory. We compared hypertext versus linear text comprehension in D/HH students and students with SLI versus younger students without language problems who had a similar level of decoding and vocabulary. The results demonstrated no difference in text comprehension between the hierarchically structured hypertext and the linear text...
January 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28067750/unilateral-hearing-loss-understanding-speech-recognition-and-localization-variability-implications-for-cochlear-implant-candidacy
#13
Jill B Firszt, Ruth M Reeder, Laura K Holden
OBJECTIVES: At a minimum, unilateral hearing loss (UHL) impairs sound localization ability and understanding speech in noisy environments, particularly if the loss is severe to profound. Accompanying the numerous negative consequences of UHL is considerable unexplained individual variability in the magnitude of its effects. Identification of covariables that affect outcome and contribute to variability in UHLs could augment counseling, treatment options, and rehabilitation. Cochlear implantation as a treatment for UHL is on the rise yet little is known about factors that could impact performance or whether there is a group at risk for poor cochlear implant outcomes when hearing is near-normal in one ear...
November 4, 2016: Ear and Hearing
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#14
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28067077/clinical-outcomes-with-the-kanso%C3%A2-off-the-ear-cochlear-implant-sound-processor
#15
Stefan J Mauger, Marian Jones, Esti Nel, Janine Del Dot
OBJECTIVE: To investigate clinical outcomes and subjective ratings of the Kanso™ off-the-ear (OTE) cochlear implant sound processor. DESIGN: Prospective, within-subject design investigating outcomes with a range of single and dual-microphone programmes for Kanso compared to conventional behind-the-ear (BTE) sound processors. STUDY SAMPLE: Twenty post-lingually hearing-impaired cochlear implant recipients who were experienced Nucleus® 5 or Nucleus® 6 BTE users...
January 9, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28056149/hearing-impairment-and-undiagnosed-disease-the-potential-role-of-clinical-recommendations
#16
Nicole M Marlow, John Malaty, Ara Jo, Rebecca J Tanner, Valery M Beau de Rochars, Peter J Carek, Arch G Mainous
Purpose: The objective of this study was to use cross-sectional, nationally representative data to examine the relationship between self-reported hearing impairment and undetected diabetes, hypertension, hypercholesterolemia, and chronic kidney disease. Method: We analyzed the National Health and Nutrition Examination Survey for the years 2007-2012 for individuals 40 years of age and older without previously diagnosed cardiovascular disease. Analyses were conducted examining hearing impairment and undiagnosed disease...
January 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28054912/the-effect-of-conventional-and-transparent-surgical-masks-on-speech-understanding-in-individuals-with-and-without-hearing-loss
#17
Samuel R Atcherson, Lisa Lucks Mendel, Wesley J Baltimore, Chhayakanta Patro, Sungmin Lee, Monique Pousson, M Joshua Spann
BACKGROUND: It is generally well known that speech perception is often improved with integrated audiovisual input whether in quiet or in noise. In many health-care environments, however, conventional surgical masks block visual access to the mouth and obscure other potential facial cues. In addition, these environments can be noisy. Although these masks may not alter the acoustic properties, the presence of noise in addition to the lack of visual input can have a deleterious effect on speech understanding...
January 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28054911/evaluation-of-a-wind-noise-attenuation-algorithm-on-subjective-annoyance-and-speech-in-wind-performance
#18
Petri Korhonen, Francis Kuk, Eric Seper, Martin Mørkebjerg, Majken Roikjer
BACKGROUND: Wind noise is a common problem reported by hearing aid wearers. The MarkeTrak VIII reported that 42% of hearing aid wearers are not satisfied with the performance of their hearing aids in situations where wind is present. PURPOSE: The current study investigated the effect of a new wind noise attenuation (WNA) algorithm on subjective annoyance and speech recognition in the presence of wind. RESEARCH DESIGN: A single-blinded, repeated measures design was used...
January 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28053826/sensorineural-organs-dysfunction-and-cognitive-decline-a-review-article
#19
REVIEW
Supakanya Wongrakpanich, Aisawan Petchlorlian, Andrew Rosenzweig
Vision, hearing, olfaction, and cognitive function are essential components of healthy and successful aging. Multiple studies demonstrate relationship between these conditions with cognitive function. The present article focuses on hearing loss, visual impairment, olfactory loss, and dual sensory impairments in relation to cognitive declination and neurodegenerative disorders. Sensorineural organ impairment is a predictive factor for mild cognitive impairment and neurodegenerative disorders in the elderly. We recommend early detection of sensorineural dysfunction by history, physical examination, and screening tests...
December 2016: Aging and Disease
https://www.readbyqxmd.com/read/28053240/broadened-population-level-frequency-tuning-in-the-auditory-cortex-of-tinnitus-patients
#20
Kenichi Sekiya, Mariko Takahashi, Shingo Murakami, Ryusuke Kakigi, Hidehiko Okamoto
Tinnitus is a phantom auditory perception without an external sound source and is one of the most common public health concerns that impair the quality of life of many individuals. However, its neural mechanisms remain unclear. We herein examined population-level frequency tuning in the auditory cortex of unilateral tinnitus patients with similar hearing levels in both ears using magnetoencephalography. We compared auditory evoked neural activities elicited by a stimulation to the tinnitus and non-tinnitus ears...
January 4, 2017: Journal of Neurophysiology
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