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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
Aida Costa, Lynn M Powell, Sally Lowell, Andrew P Jarman
The proneural gene, Atoh1, is necessary and in some contexts sufficient for early inner ear hair cell development. Its function is the subject of intensive research, not least because of the possibility that it could be used in therapeutic strategies to reverse hair cell loss in deafness. However, it is clear that Atoh1's function is highly context dependent. During inner ear development, Atoh1 is only able to promote hair cell differentiation at specific developmental stages. Outside the ear, Atoh1 is required for differentiation of a variety of other cell types, for example in the intestine and cerebellum...
October 14, 2016: Seminars in Cell & Developmental Biology
Lotte Skøt, Tina Jeppesen, Angelina Isabella Mellentin, Ask Elklit
PURPOSE: This descriptive study sought to explore barriers faced by Deaf and hard-of-hearing (D/HH) individuals in Denmark when accessing medical and psychosocial services following large-scale disasters and individual traumatic experiences. METHODS: Semi-structured interviews were conducted with nine D/HH individuals who had experienced at least one disaster or other traumatic event. RESULTS: Difficulties were encountered during interactions with first response and healthcare services, which centered on: (1) lack of Deaf awareness among professionals, (2) problems accessing interpreter services, (3) professionals relying on hearing relatives to disseminate information, and (4) professionals who were unwilling to adjust their speech or try different forms of communication...
October 17, 2016: Disability and Rehabilitation
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Christina Sloan-Heggen, Sanaz Arzhangi, Kevin Booth, Marzieh Mohseni, Kathy Frees, Mohammad Hossein Azizi, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard Jh Smith, Hossein Najmabadi
A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran...
October 1, 2016: Archives of Iranian Medicine
Claudia Frick, Marcus Müller, Ute Wank, Anke Tropitzsch, Benedikt Kramer, Pascal Senn, Helge Rask-Anderson, Karl-Heinz Wiesmüller, Hubert Löwenheim
Cochlear implants (CI) allow for hearing rehabilitation in patients with sensorineural hearing loss or deafness. Restricted CI performance results from the spatial gap between spiral ganglion neurons and the CI, causing current spread that limits spatially restricted stimulation and impairs frequency resolution. This may be substantially improved by guiding peripheral processes of spiral ganglion neurons towards and onto the CI electrode contacts. An injectable, peptide-based hydrogel was developed which may provide a permissive scaffold to facilitate neurite growth towards the CI...
October 4, 2016: Colloids and Surfaces. B, Biointerfaces
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi, Andrea Angius, Khalsa Al Lamki, Giorgia Girotto, Tania Giangregorio, Matteo Benelli, Alberto Magi, Marco Seri, Paolo Gasparini, Francesco Cucca, Marco Sazzini, Mazin Al Khabori, Tommaso Pippucci, Giovanni Romeo
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described...
October 13, 2016: Journal of Human Genetics
Panagiotis A Dimitriadis, Matthew R Farr, Ahmed Allam, Jaydip Ray
BACKGROUND: Bone conduction devices are widely used and indicated in cases of conductive, mixed or single sided deafness where conventional hearing aids are not indicated or tolerated. Percutaneous bone-conduction devices gave satisfactory hearing outcomes but were frequently complicated by soft tissue reactions. Transcutaneous bone conduction devices were developed in order to address some of the issues related to the skin-penetrating abutment. The aim of this article is to present a systematic review of the indications, surgical technique and audiological, clinical and functional outcomes of the BAHA Attract device reported so far...
2016: BMC Ear, Nose, and Throat Disorders
Maike Vollmer, Ralph Eugene Beitel, Christoph E Schreiner, Patricia A Leake
In profoundly deaf cats, behavioral training with intracochlear electric stimulation (ICES) can improve temporal processing in the primary auditory cortex (AI). To investigate whether similar effects are manifest in the auditory midbrain, ICES was initiated in neonatally deafened cats either during development after short durations of deafness (8 wk of age) or in adulthood after long durations of deafness (≥3.5 yr). All of these animals received behaviorally-meaningless, 'passive' ICES. Some animals also received behavioral training with ICES...
October 12, 2016: Journal of Neurophysiology
Nicola Strenzke, Rituparna Chakrabarti, Hanan Al-Moyed, Alexandra Müller, Gerhard Hoch, Tina Pangrsic, Gulnara Yamanbaeva, Christof Lenz, Kuan-Ting Pan, Elisabeth Auge, Ruth Geiss-Friedlander, Henning Urlaub, Nils Brose, Carolin Wichmann, Ellen Reisinger
The multi-C2 domain protein otoferlin is required for hearing and mutated in human deafness. Some OTOF mutations cause a mild elevation of auditory thresholds but strong impairment of speech perception. At elevated body temperature, hearing is lost. Mice homozygous for one of these mutations, Otof(I515T/I515T), exhibit a moderate hearing impairment involving enhanced adaptation to continuous or repetitive sound stimulation. In Otof(I515T/I515T) inner hair cells (IHCs), otoferlin levels are diminished by 65%, and synaptic vesicles are enlarged...
October 11, 2016: EMBO Journal
Lindsey Edwards, Lynne Aitkenhead, Dawn Langdon
OBJECTIVE: This study aimed to establish the relationship between short-term memory capacity and reading skills in adolescents with cochlear implants. METHODS AND MATERIALS: A between-groups design compared a group of young people with cochlear implants with a group of hearing peers on measures of reading, and auditory and visual short-term memory capacity. The groups were matched for non-verbal IQ and age. The adolescents with cochlear implants were recruited from the Cochlear Implant Programme at a specialist children's hospital...
November 2016: International Journal of Pediatric Otorhinolaryngology
Mo Chen, Zhaoyan Wang, Zhiwen Zhang, Xun Li, Weijing Wu, Dinghua Xie, Zi-An Xiao
OBJECTIVE: The present study aims to test whether deaf children with unilateral cochlear implantation (CI) have higher intelligence quotients (IQ). We also try to find out the predictive factors of intelligence development in deaf children with CI. METHODS: Totally, 186 children were enrolled into this study. They were divided into 3 groups: CI group (N = 66), hearing loss group (N = 54) and normal hearing group (N = 66). All children took the Hiskey-Nebraska Test of Learning Aptitude to assess the IQ...
November 2016: International Journal of Pediatric Otorhinolaryngology
Mingming Wang, Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Zhaomin Fan, Qian Sun, Xiaohui Bai, Haibo Wang
OBJECTIVE: To identify the disease-related SLC26A4 mutants in a Chinese Han pedigree associated with Enlarged vestibular aqueduct (EVA). METHODS: EVA diagnosis was based on the family history, clinical examinations, systematically audiometric evaluations, high-resolution computed tomography (HRCT) of the temporal bone, and magnetic resonance imaging (MRI) of inner ear. Sanger sequencing and mutation analysis of the SLC26A4 gene were performed in all members of this family to identify the disease-related SLC26A4 mutants...
November 2016: International Journal of Pediatric Otorhinolaryngology
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
Katrien Vermeire, Leslie Wexler, Andrea Vambutas
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
November 2016: International Journal of Pediatric Otorhinolaryngology
Yongzhi Liu, Liying Ao, Haitao Ding, Dongli Zhang
The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients...
October 10, 2016: Genetics and Molecular Biology
(no author information available yet)
In this document, the Federal Communications Commission (Commission) adopts rules to convert the National Deaf-Blind Equipment Distribution Program (NDBEDP) from a pilot program to a permanent program. The NDBEDP supports the distribution of communications devices to low-income individuals who are deaf-blind.
September 26, 2016: Federal Register
Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, Kazuo Itabashi
We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS...
2016: Internal Medicine
Soren Gantt, Francois Dionne, Fred K Kozak, Oran Goshen, David M Goldfarb, Albert H Park, Suresh B Boppana, Karen Fowler
Importance: Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care. Objective: To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening. Design, Setting, and Participants: Models were constructed using rates and outcomes from prospective cohort studies of newborn cCMV screening in US postpartum care and early hearing programs...
October 10, 2016: JAMA Pediatrics
Sanjay Chawla, Girija Natarajan, Seetha Shankaran, Athina Pappas, Barbara J Stoll, Waldemar A Carlo, Shampa Saha, Abhik Das, Abbot R Laptook, Rosemary D Higgins
Importance: Many premature infants are born without exposure to antenatal steroids (ANS) or with incomplete courses. This study evaluates the dose-dependent effect of ANS on rates of neonatal morbidities and early childhood neurodevelopmental outcomes of extremely premature infants. Objective: To compare rates of neonatal morbidities and 18- to 22-month neurodevelopmental outcomes of extremely premature infants exposed to no ANS or partial or complete courses of ANS...
October 10, 2016: JAMA Pediatrics
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