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https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#1
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli, Patricia Yoshie Nishimura, Layla Testa Galindo, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Among the familial cases (100/313), four were selected for exome sequencing. In one case, two novel heterozygous variants were found and were predicted to be pathogenic based on bioinformatics tools, that is, p.Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
October 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29044151/modeling-and-preventing-progressive-hearing-loss-in-usher-syndrome-iii
#2
Ruishuang Geng, Akil Omar, Suhasini R Gopal, Daniel H-C Chen, Ruben Stepanyan, Martin L Basch, Astra Dinculescu, David N Furness, David Saperstein, William Hauswirth, Lawrence R Lustig, Kumar N Alagramam
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). Clrn1 knockout (KO) mice develop hair cell defects by postnatal day 2 (P2) and are deaf by P21-P25. Early onset profound hearing loss in KO mice and lack of information about the cochlear cell type that requires Clrn1 expression pose challenges to therapeutic investigation. We generated KO mice harboring a transgene, TgAC1, consisting of Clrn1-UTR (Clrn1 cDNA including its 5' and 3' UTR) under the control of regulatory elements (Atoh1 3' enhancer/β-globin basal promoter) to direct expression of Clrn1 in hair cells during development and down regulate it postnatally...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#3
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/29043102/the-distribution-of-calbindin-d28k-parvalbumin-and-calretinin-immunoreactivity-in-the-inferior-colliculus-of-circling-mouse
#4
Jin-Koo Lee, Myeung Ju Kim
The circling mice with tmie gene mutation are known as an animal deafness model, which showed hyperactive circling movement. Recently, the reinvestigation of circling mouse was performed to check the inner ear pathology as a main lesion of early hearing loss. In this trial, the inner ear organs were not so damaged to cause the hearing deficit of circling (cir/cir) mouse at 18 postnatal day (P18) though auditory brainstem response data indicated hearing loss of cir/cir mice at P18. Thus, another mechanism may be correlated with the early hearing loss of cir/cir mice at P18...
September 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/29041996/preparedness-training-programs-for-working-with-deaf-and-hard-of-hearing-communities-and-older-adults-lessons-learned-from-key-informants-and-literature-assessments
#5
Patricia W Kamau, Susan L Ivey, Stephanie E Griese, Shoukat H Qari
OBJECTIVES: The objectives of this study were to (1) identify available training programs for emergency response personnel and public health professionals on addressing the needs of Deaf and hard of hearing individuals and older adults, (2) identify strategies to improve these training programs, and (3) identify gaps in available training programs and make recommendations for addressing these gaps. METHODS: A literature review was conducted to identify relevant training programs and identify lessons learned...
October 18, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29040702/literacy-outcomes-in-deaf-students-with-cochlear-implants-current-state-of-the-knowledge
#6
Connie Mayer, Beverly J Trezek
The purpose of this paper is to examine the available peer-reviewed research regarding literacy achievement in deaf children with cochlear implants. A related goal is to identify gaps in the empirical literature and suggest directions for future research. Included in this review are studies that exclusively report reading and writing outcomes for groups of students. A total of 21 studies were identified, representing those published over approximately a 20-year time period (1997-2016) and collectively reporting the literacy outcomes for over 1,000 cochlear implant users...
October 5, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29040624/altering-practices-to-include-bimodal-bilingual-asl-spoken-english-programming-at-a-small-school-for-the-deaf-in-canada
#7
Karen Priestley, Charlotte Enns, Shauna Arbuckle
Bimodal-bilingual programs are emerging as one way to meet broader needs and provide expanded language, educational and social-emotional opportunities for students who are deaf and hard of hearing (Marschark, M., Tang, G. & Knoors, H. (Eds). (2014). Bilingualism and bilingual Deaf education. New York, NY: Oxford University Press; Paludneviciene & Harris, R. (2011). Impact of cochlear implants on the deaf community. In Paludneviciene, R. & Leigh, I. (Eds.), Cochlear implants evolving perspectives (pp. 3-19)...
October 13, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29038697/the-pedagogical-effect-of-a-health-education-application-for-deaf-and-hard-of-hearing-students-in-elementary-schools
#8
Masoumeh Abbasi, Saeid Eslami, Mahdi Mohammadi, Reza Khajouei
BACKGROUND: Deaf or hard-of-hearing children experience difficulties in learning health principles. But technology has significantly improved their ability to learn. The challenge in e-learning is to design attractive applications while having an educational aspect. OBJECTIVE: The aims of this study were to determine the pedagogical effectiveness of a health education application for deaf and hard of hearing students in elementary schools, and to investigate the student's perceptions in different educational grades about the educational effectiveness of the text, graphics, video clips, and animation in the application...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29037160/-homozygous-and-compound-heterozygous-mutation-in-3-turkish-family-with-jervell-and-lange-nielsen-syndrome-case-reports
#9
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G Temel
BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE PRESENTATIONS: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss...
October 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29034268/language-emergence
#10
Diane Brentari, Susan Goldin-Meadow
Language emergence describes moments in historical time when nonlinguistic systems become linguistic. Because language can be invented de novo in the manual modality, this offers insight into the emergence of language in ways that the oral modality cannot. Here we focus on homesign, gestures developed by deaf individuals who cannot acquire spoken language and have not been exposed to sign language. We contrast homesign with (a) gestures that hearing individuals produce when they speak, as these cospeech gestures are a potential source of input to homesigners, and (b) established sign languages, as these codified systems display the linguistic structure that homesign has the potential to assume...
2017: Annual Review of Linguistics
https://www.readbyqxmd.com/read/29034011/the-development-of-iconicity-in-children-s-co-speech-gesture-and-homesign
#11
Erica A Cartmill, Lilia Rissman, Miriam Novack, Susan Goldin-Meadow
Gesture can illustrate objects and events in the world by iconically reproducing elements of those objects and events. Children do not begin to express ideas iconically, however, until after they have begun to use conventional forms. In this paper, we investigate how children's use of iconic resources in gesture relates to the developing structure of their communicative systems. Using longitudinal video corpora, we compare the emergence of manual iconicity in hearing children who are learning a spoken language (co-speech gesture) to the emergence of manual iconicity in a deaf child who is creating a manual system of communication (homesign)...
2017: LIA
https://www.readbyqxmd.com/read/29033477/is-lhasa-tibetan-sign-language-emerging-endangered-or-both
#12
Theresia Hofer
This article offers the first overview of the recent emergence of Tibetan Sign Language (TibSL) in Lhasa, capital of the Tibet Autonomous Region (TAR), China. Drawing on short anthropological fieldwork, in 2007 and 2014, with people and organisations involved in the formalisation and promotion of TibSL, the author discusses her findings within the nine-fold UNESCO model for assessing linguistic vitality and endangerment. She follows the adaptation of this model to assess signed languages by the Institute of Sign Languages and Deaf Studies (iSLanDS) at the University of Central Lancashire...
May 24, 2017: International Journal of the Sociology of Language
https://www.readbyqxmd.com/read/29033123/diagnosis-and-treatment-of-otitis-media-with-effusion-codepeh-recommendations
#13
Faustino Núñez-Batalla, Carmen Jáudenes-Casaubón, Jose Miguel Sequí-Canet, Ana Vivanco-Allende, Jose Zubicaray-Ugarteche
The incidence and the prevalence rates of otitis media with effusion (OME) are high. However, there is evidence that only a minority of professionals follow the recommendations provided in clinical practice guidelines. For the purpose of improving diagnosis and treatment of OME in children to prevent and/or reduce its impact on children's development, the Commission for the Early Detection of Deafness (CODEPEH) has deeply reviewed the scientific literature on this field and has drafted a document of recommendations for a correct clinical reaction to of OME, including diagnosis and medical and surgical treatment methodology...
October 13, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/29032433/diffuse-mesangial-sclerosis-in-a-pdss2-mutation-induced-coenzyme-q10-deficiency
#14
Béla Iványi, Gábor Z Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...
October 14, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29031496/ischemic-stroke-in-a-patient-with-parry-romberg-syndrome
#15
Victoria Ebiana, Sandeep Singh, Shaweta Khosa, Negar Moheb, Bhavesh Trikamji, Neal M Rao, Shri K Mishra
OBJECTIVE: This study aimed to discuss a case of a patient with a known diagnosis of Parry-Romberg syndrome (PRS) presenting with ischemic stroke, the second such reported case. BACKGROUND: PRS is a rare genetic disorder with progressive hemifacial atrophy, which usually presents within the first 2 decades of life. Neurologic manifestations include trigeminal neuralgia with associated deafness, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms...
October 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29027599/dyspepsia-diarrhea-and-deafness-some-calling-cards-of-the-great-mimic
#16
Anas Gremida, Muqeet Adnan, Vidit Kappor, Farzana Harji, Joseph Glass, Denis McCarthy
No abstract text is available yet for this article.
October 13, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29026790/the-prevalence-of-hearing-impairment-by-age-and-gender-in-a-population-based-study
#17
Alimohamad Asghari, Mohammad Farhadi, Ahmad Daneshi, Mehdi Khabazkhoob, Saman Mohazzab-Torabi, Maryam Jalessi, Hesamedin Emamjomeh
BACKGROUND: This study aimed to determine the prevalence of hearing impairment (HI) by age and gender in a population aged 5 yr and older residing in Tehran, Iran. METHODS: In this cross-sectional study, 140 clusters each including 10 households from Tehran, Iran were sampled between 2012 and 2013 using cluster random sampling. Trained audiologists examined the participants during face-to-face interviews. The hearing of the participants was evaluated before the removal of wax or other foreign bodies...
September 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29025322/auditory-and-cognitive-development-in-a-partially-deaf-child-with-bilateral-electro-acoustic-stimulation-a-case-study
#18
Josef Seebacher, Franz Muigg, Natalie Fischer, Viktor Weichbold, Kurt Stephan, Patrick Zorowka, Harald R Bliem, Joachim Schmutzhard
OBJECTIVE: To study the long-term evolution of speech and intelligence in a child with partial deafness and normal hearing in the low frequencies after sequentially receiving cochlear implants in both ears. DESIGN: Retrospective chart review. STUDY SAMPLE: Male child aged 6 years was followed over a time period of four years. RESULTS: The paediatric patient had normal hearing up to 1 kHz and profound hearing loss at all higher frequencies symmetrical in both ears...
October 12, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/29025137/hypoparathyroidism-deafness-renal-dysplasia-hdr-syndrome-gata3
#19
Marisa Horta, Carlos Lino, Manuel C Lemos
No abstract text is available yet for this article.
September 4, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome
#20
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al...
October 9, 2017: European Journal of Medical Genetics
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