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https://www.readbyqxmd.com/read/28442169/cochlear-implantation-in-children-with-anomalous-cochleovestibular-anatomy
#1
REVIEW
Ana Sofia Melo, Jorge Martins, João Silva, Jorge Quadros, António Paiva
OBJECTIVE: The aim of the study is to assess the audiological and surgical outcome after cochlear implantation in children with inner ear malformation and to compare them with a group of congenitally deaf children implantees without inner ear malformation. INTRODUCTION: Children with profound sensorineural deafness with malformations of the inner ear represent a challenge, accounting to 5-15% of congenital sensorineural deafness. These cases were originally regarded as a contraindication for cochlear implant surgery...
April 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28441810/-sudden-deafness-and-vertigo-as-starting-symptoms-of-relapsing-polychondritis-one-case-report
#2
J Liu, X Bie, J N Zhang
No abstract text is available yet for this article.
April 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28441230/cochlear-implantation-in-adults-with-asymmetric-hearing-loss-benefits-of-bimodal-stimulation
#3
Maarten Caspar van Loon, Cas Smits, Conrad F Smit, Erik F Hensen, Paul Merkus
OBJECTIVE: This study addresses the outcome of cochlear implantation in addition to hearing aid use in patients with asymmetric sensorineural hearing loss. STUDY DESIGN: Prospective longitudinal study. SETTING: Tertiary referral center. PATIENTS: Seven adults with asymmetric sensorineural hearing loss, i.e., less than 30% aided speech recognition in their worst hearing ear and 60 to 85% speech recognition in their best hearing ear...
April 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28439001/structure-of-myo7b-ush1c-complex-suggests-a-general-pdz-domain-binding-mode-by-myth4-ferm-myosins
#4
Jianchao Li, Yunyun He, Meredith L Weck, Qing Lu, Matthew J Tyska, Mingjie Zhang
Unconventional myosin 7a (Myo7a), myosin 7b (Myo7b), and myosin 15a (Myo15a) all contain MyTH4-FERM domains (myosin tail homology 4-band 4.1, ezrin, radixin, moesin; MF) in their cargo binding tails and are essential for the growth and function of microvilli and stereocilia. Numerous mutations have been identified in the MyTH4-FERM tandems of these myosins in patients suffering visual and hearing impairment. Although a number of MF domain binding partners have been identified, the molecular basis of interactions with the C-terminal MF domain (CMF) of these myosins remains poorly understood...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438970/the-severity-of-vestibular-dysfunction-in-deafness-as-a-determinant-of-comorbid-hyperactivity-or-anxiety
#5
Michelle W Antoine, Sarath Vijayakumar, Nicholas McKeehan, Sherri M Jones, Jean M Hébert
Attention-deficit/hyperactivity disorder (ADHD) and anxiety-related disorders occur at rates 2-3 times higher in deaf compared with hearing children. Potential explanations for these elevated rates and the heterogeneity of behavioral disorders associated with deafness have usually focused on socio-environmental rather than biological effects. Children with the 22q11.2 deletion or duplication syndromes often display hearing loss and behavioral disorders including ADHD and anxiety-related disorders. Here, we show that mouse mutants with either a gain- or loss-of-function of the T-Box transcription factor gene, Tbx1, which lies within the 22q11...
April 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28438721/clinical-profile-and-mutation-spectrum-of-long-qt-syndrome-in-saudi-arabia-the-impact-of-consanguinity
#6
Zuhair N Al-Hassnan, Majid Al-Fayyadh, Bander Al-Ghamdi, Azam Shafquat, Yaseen Mallawi, Faten Al-Hadeq, Sahar Tulbah, Zarghuna Ma Shinwari, Abdulrahman Almesned, Ali Alakhfash, Fadel Al Fadly, Ahmed S Hersi, Abdullah Alhayani, Amal Al-Hashem, Dia Arafah, Nduna Dzimiri, Brian Meyer, Monther Rababh, Waleed Al-Manea
BACKGROUND: Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70% with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. OBJECTIVES: We aim to describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population...
April 21, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28437361/cochlear-implantation-vast-unmet-need-to-address-deafness-globally
#7
Mehmet İlhan Şahin, Jessica E Sagers, Konstantina M Stankovic, Mehmet İlhan Şahin, Konstantina M Stankovic, Jessica E Sagers, Konstantina M Stankovic
No abstract text is available yet for this article.
April 21, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#8
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28432260/dual-histone-reader-zmynd8-inhibits-cancer-cell-invasion-by-positively-regulating-epithelial-genes
#9
Moitri Basu, Isha Sengupta, Wasim Khan, Dushyant Kumar Srivastava, Partha Chakrabarti, Siddhartha Roy, Chandrima Das
Enhanced migratory potential and invasiveness of cancer cells attribute crucially.in cancer progression. These phenotypes are achieved by precise alteration of invasion-associated genes through local epigenetic modifications which are recognized by a class of proteins termed as chromatin reader. ZMYND8 (zinc finger MYND (Myeloid, Nervy and DEAF-1)-type containing 8), a key component of transcription regulatory network, has been recently shown to be a novel reader of H3.1K36Me2/H4K16Ac marks. Through differential gene expression analysis upon silencing this chromatin reader, we identified a subset of genes involved in cell proliferation and invasion/migration regulated by ZMYND8...
April 21, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28431256/neurodevelopmental-outcomes-of-neonates-undergoing-surgery-under-general-anesthesia-for-malrotation-of-intestines
#10
Suresh Birajdar, Shripada Rao, Judy McMichael
BACKGROUND: It is difficult to differentiate between the potential adverse effects of general anesthesia (GA) on the developing brain and the role of associated co-morbidities and syndromes that can adversely affect neurodevelopmental outcomes in neonates undergoing GA. Neonates with malrotation of the intestines without volvulus usually do not have co-morbidities or syndromes. In addition, majority of them recover very well after surgery and are discharged home within a few days. Neonates with malrotation are a clean cohort of babies to study the role of a single episode of GA on the developing brain...
April 18, 2017: Early Human Development
https://www.readbyqxmd.com/read/28429364/application-of-gene-detection-technique-in-the-antenatal-diagnosis-of-hereditary-hearing-loss
#11
Y Fang, M-S Gu, F Suo, C-X Wang, X-H Liu, F-M Liu
OBJECTIVE: Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss. PATIENTS AND METHODS: From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299) in GJB2 gene, 2 sites (2168A>G and IVS-7-2A>G) in SLC26A4 (PDS) gene, 2 sites (1494C>T and 1555A>G) in 12s rRNA gene and 1 site (538C>T) in GJB3 gene, were detected using the GeeDom® 9-item hereditary hearing loss gene detection kit...
April 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28426889/concurrent-and-longitudinal-predictors-of-reading-for-deaf-and-hearing-children-in-primary-school
#12
Margaret Harris, Emmanouela Terlektsi, Fiona Elizabeth Kyle
Forty-one children with severe-profound prelingual hearing loss were assessed on single word reading, reading comprehension, English vocabulary, phonological awareness and speechreading at three time points, 1 year apart (T1-T3). Their progress was compared with that of a group of hearing children of similar nonverbal IQ, initially reading at the same level. Single word reading improved at each assessment point for the deaf children but there was no growth in reading comprehension from T2 to T3. There were no differences between children with cochlear implants and those with hearing aids on either reading measure but orally educated children had higher scores than children who signed in the classroom...
April 1, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28426888/adolescent-depression-differential-symptom-presentations-in-deaf-and-hard-of-hearing-youth-using-the-patient-health-questionnaire-9
#13
Melanie L Bozzay, Kimberly N O'Leary, Alessandro S De Nadai, Kim Gryglewicz, Gabriela Romero, Marc S Karver
The present study examined differences in symptom presentation in screening for pediatric depression via evaluation of the Patient Health Questionnaire-9 (PHQ-9). In particular, we examined whether PHQ-9 items function differentially among deaf and hard-of-hearing (DHH; n = 75) and hearing (n = 75) youth based on participants recruited from crisis assessment services. Multiple indicators multiple causes models were used to examine whether items of the PHQ-9 functioned differently between groups as well as whether there were group differences in the mean severity of depressive symptoms...
April 1, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28426028/-groping-in-the-dark-unheard-pain-2
#14
D J F Lambregts-van Marrewijk
For a very severely mentally disabled, deaf and blind man, it was always very difficult to carry out dental check-ups, diagnosis and treatment, even with pharmacologic support. The man cannot communicate pain. When caries and calculus were diagnosed, the man was treated under general anaesthesia. During this treatment session he was also found to have severe periodontal disease and peri-apical problems. The legal representative of the patient was unavailable for consultation on changes to the pre-prepared preliminary treatment plan...
April 2017: Nederlands Tijdschrift Voor Tandheelkunde
https://www.readbyqxmd.com/read/28424636/the-neural-basis-of-speech-perception-through-lipreading-and-manual-cues-evidence-from-deaf-native-users-of-cued-speech
#15
Mario Aparicio, Philippe Peigneux, Brigitte Charlier, Danielle Balériaux, Martin Kavec, Jacqueline Leybaert
We present here the first neuroimaging data for perception of Cued Speech (CS) by deaf adults who are native users of CS. CS is a visual mode of communicating a spoken language through a set of manual cues which accompany lipreading and disambiguate it. With CS, sublexical units of the oral language are conveyed clearly and completely through the visual modality without requiring hearing. The comparison of neural processing of CS in deaf individuals with processing of audiovisual (AV) speech in normally hearing individuals represents a unique opportunity to explore the similarities and differences in neural processing of an oral language delivered in a visuo-manual vs...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28420778/empowering-adolescents-who-are-deaf-and-hard-of-hearing
#16
Johnnie Sexton
The adolescent years are challenging for all kids. If hearing loss is added into the mix, the issues faced by these teens are quite complex and require some skill development in advocacy, empowerment, and independence. This article will explore the emotional journey of the individual and the family.
March 2017: North Carolina Medical Journal
https://www.readbyqxmd.com/read/28420770/accommodating-deaf-and-hard-of-hearing-employees
#17
Holly Stiles
Hearing loss is the 2nd most prevalent health issue around the world; in the US, about 1 in 5 people, and 3 in 5 combat veterans, have some amount of hearing loss [1]. Managers or supervisors will inevitably have an employee who has some degree of hearing loss. Employers have a legal obligation to make reasonable accommodations that enable employees with disabilities, including hearing loss, to be successful in the workplace.
March 2017: North Carolina Medical Journal
https://www.readbyqxmd.com/read/28420617/application-and-progress-of-high-throughput-sequencing-technologies-in-the-research-of-hereditary-hearing-loss
#18
Wang Cuicui, Yuan Huijun
Hearing loss (HL) is the most common birth defect. Elucidating the genetic basis of hereditary deafness can not only assist diagnosis, provide the basis for genetic counseling and the prevention of deafness, but also bring a deeper understanding of the disease pathogenesis. In the genomic era, high-throughput sequencing technologies, represented by whole genome sequencing (WGS), whole exome sequencing (WES) or target region sequencing, have been widely used in the studies of hereditary HL. Here, we summarize the application and progress of WES and target region sequencing in the research of causative genes and clinical molecular diagnosis of hereditary HL, hoping to be helpful for the development and improvement of clinical genetic diagnosis of deafness in China...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28419769/nurse-practitioner-perceptions-of-barriers-and-facilitators-in-providing-health-care-for-deaf-american-sign-language-users-a-qualitative-socio-ecological-approach
#19
Kathy M Pendergrass, Lynne Nemeth, Susan D Newman, Carolyn M Jenkins, Elaine G Jones
BACKGROUND AND PURPOSE: Nurse practitioners (NPs), as well as all healthcare clinicians, have a legal and ethical responsibility to provide health care for deaf American Sign Language (ASL) users equal to that of other patients, including effective communication, autonomy, and confidentiality. However, very little is known about the feasibility to provide equitable health care. The purpose of this study was to examine NP perceptions of barriers and facilitators in providing health care for deaf ASL users...
April 17, 2017: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/28418411/-groping-in-the-dark-unheard-pain-2
#20
D J F Lambregts-van Marrewijk
For a very severely mentally disabled, deaf and blind man, it was always very difficult to carry out dental check-ups, diagnosis and treatment, even with pharmacologic support. The man cannot communicate pain. When caries and calculus were diagnosed, the man was treated under general anaesthesia. During this treatment session he was also found to have severe periodontal disease and peri-apical problems. The legal representative of the patient was unavailable for consultation on changes to the pre-prepared preliminary treatment plan...
April 2017: Nederlands Tijdschrift Voor Tandheelkunde
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