keyword
MENU ▼
Read by QxMD icon Read
search

congenital sensorineural hearing loss

keyword
https://www.readbyqxmd.com/read/29212424/surgical-complications-of-cochlear-implantation-in-a-tertiary-university-hospital
#1
Al Hussein Awad, Usama M Rashad, Nihal Gamal, Mostafa A Youssif
INTRODUCTION: Cochlear implantation remains a popular and effective therapy for patients with sensorineural hearing loss that not get benefit from conventional hearing aids Objective: To analyze the surgical complications obtained in patients that underwent cochlear implantation in a tertiary university hospital. MATERIALS AND METHODS: Retrospective analysis of the medical files of cochlear implant patients who underwent surgery at our institution between October 2014 and July 2016...
December 7, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/29200148/macrothrombocytopenia-with-congenital-bilateral-cataracts-a-phenotype-of-myh9-disorder-with-exon-24-indel-mutations
#2
Takahiro Aoki, Shinji Kunishima, Yoshiharu Yamashita, Kanshi Minamitani, Setsuo Ota
MYH9 disorder is characterized by large platelets and granulocyte inclusion bodies, and can be complicated with young-adult onsets of nephropathy, sensorineural hearing loss, and cataracts. Congenital cataracts in patients with MYH9 disorder is rare, and their etiology has not been elucidated. We report a 3-year-old patient with MYH9 disorder who had a p.E1066_A1072del mutation and developed cataracts congenitally. A review of the literature reveals that patients with an MYH9 exon 24 indel mutation, including p...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29198720/mutations-in-tubb4b-cause-a-distinctive-sensorineural-disease
#3
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean-François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José-Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J Cowan, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability...
November 22, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29190488/the-effect-of-simulated-unilateral-hearing-loss-on-horizontal-sound-localization-accuracy-and-recognition-of-speech-in-spatially-separate-competing-speech
#4
Filip Asp, Anne-Marie Jakobsson, Erik Berninger
Unilateral hearing loss (UHL) occurs in 25% of cases of congenital sensorineural hearing loss. Due to the unilaterally reduced audibility associated with UHL, everyday demanding listening situations may be disrupted despite normal hearing in one ear. The aim of this study was to quantify acute changes in recognition of speech in spatially separate competing speech and sound localization accuracy, and relate those changes to two levels of temporary induced UHL (UHL30 and UHL43; suffixes denote the average hearing threshold across 0...
November 22, 2017: Hearing Research
https://www.readbyqxmd.com/read/29160150/electrocardiogram-screening-in-children-with-congenital-sensorineural-hearing-loss-prevalence-and-follow-up-of-abnormalities
#5
Zainab Farzal, Jonathan Walsh, Faisal I Ahmad, Jason Roberts, Sunita J Ferns, And Carlton J Zdanski
Objective The purpose is to determine the prevalence of electrocardiogram (ECG) abnormalities, including borderline and prolonged QT, among screened children with sensorineural hearing loss (SNHL) and to analyze their subsequent medical workup. Study Design Institutional Review Board-approved case series with chart review. Setting Tertiary academic center. Subjects and Methods Cases from 1996 to 2014 involving pediatric patients (N = 1994) with SNHL were analyzed. Abnormal ECGs were categorized as borderline/prolonged QT or other...
November 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#6
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29158168/identification-and-functional-analysis-of-a-novel-mutation-in-the-pax3-gene-associated-with-waardenburg-syndrome-type-i
#7
Zhijie Niu, Jiada Li, Fen Tang, Jie Sun, Xueping Wang, Lu Jiang, Lingyun Mei, Hongsheng Chen, Yalan Liu, Xinzhang Cai, Yong Feng, Chufeng He
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its in vitro activities. The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29135879/cochlear-implantation-in-children-with-congenital-unilateral-deafness-a-case-series
#8
Rainer Linus Beck, Antje Aschendorff, Frederike Hassepaß, Thomas Wesarg, Stefanie Kröger, Till F Jakob, Susan Arndt
OBJECTIVES: Cochlear implant is regarded as a treatment option for hearing rehabilitation of adults with unilateral sensorineural hearing loss. A clear benefit has been experienced in regard to speech comprehension in noise, localization, and quality of life. The aim of this study was to investigate the benefit of cochlear implantation for children with congenital unilateral hearing loss. STUDY DESIGN: Retrospective case series. SETTING: Tertiary referral center; cochlear implant program...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29122427/transcanal-endoscopic-ear-surgery-for-perilymphatic-fistula-after-electric-acoustic-stimulation
#9
Ryotaro Omichi, Shin Kariya, Yukihide Maeda, Kazunori Nishizaki
Transcanal endoscopic ear surgery (TEES) will become a very useful therapeutic option. A perilymphatic fistula (PLF) is defined as sudden sensorineural hearing loss and/or vertigo caused by leakage of the perilymph through a fistula from the oval window and/or round window. We report a case of PLF after electric acoustic stimulation (EAS), a kind of cochlear implant, successfully treated by TEES. A 38-year-old man presented to our hospital with vertigo and hearing loss (HL). His vertigo was induced by Valsalva maneuvers...
November 6, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29116590/detection-of-congenital-cytomegalovirus-in-newborns-using-nucleic-acid-amplification-techniques-and-its-public-health-implications
#10
REVIEW
Guoyu Liu, Rong Hai, Fenyong Liu
Human cytomegalovirus (HCMV), a herpesvirus, is an important human pathogen that causes asymptomatic infections in healthy or immunocompetent individuals but can lead to severe and potentially life-threatening complications in immune-immature individuals such as neonates or immune-compromised patients such as organ-transplant recipients and HIV-positive individuals. Congenital HCMV infection represents a significant public health issue and poses substantial healthcare and economic burden to society. This virus causes the most common viral congenital infection worldwide, and is the leading non-genetic cause of sensorineural hearing loss in children in developed countries...
October 2017: Virologica Sinica
https://www.readbyqxmd.com/read/29106884/impact-of-socioeconomic-factors-on-paediatric-cochlear-implant-outcomes
#11
Shalabh Sharma, Khyati Bhatia, Satinder Singh, Asish Kumar Lahiri, Asha Aggarwal
OBJECTIVES: The study was aimed at evaluating the impact of certain socioeconomic factors such as family income, level of parents' education, distance between the child's home and auditory verbal therapy clinic, and age of the child at implantation on postoperative cochlear implant outcomes. METHODS: Children suffering from congenital bilateral profound sensorineural hearing loss and a chronologic age of 4 years or younger at the time of implantation were included in the study...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106853/sequential-pediatric-bilateral-cochlear-implantation-the-effect-of-time-interval-between-implants
#12
Giovanni Bianchin, Lorenzo Tribi, Patrizia Formigoni, Carmela Russo, Valeria Polizzi
OBJECTIVE: To examine speech intelligibility in children subjected to sequential bilateral cochlear implants (CI) surgery and to assess the influence of the inter-stage interval duration. INTRODUCTION: Binaural hearing recovery can have additional benefits, especially in speech and language development in patients with congenital profound sensorineural hearing loss; so recently there has been an increase in the number of children receiving bilateral CI. METHODS: Twenty-seven children who underwent sequential bilateral cochlear implant (SBCI) with a short (1-3 yrs), medium (4-6 yrs) and long (7-12 yrs) range interval between both implantations, respectively, were evaluated...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29104815/a-novel-nano-approach-for-targeted-inner-ear-imaging
#13
M N Kayyali, L Brake, A J Ramsey, A C Wright, B W O'Malley, D Daqing Li
During the last decade, there have been major improvements in imaging modalities and the development of molecular imaging in general. However detailed inner ear imaging still provides very limited information to physicians. This is unsatisfactory as sensorineural hearing loss is the main cause of permanent hearing loss in adults and at least 134 genetic mutations that result in congenital hearing loss have been identified. We are still unable, in most cases where gross anatomical changes are not observed, to determine the exact cause of hearing loss at a cellular or molecular level in patients using non-invasive techniques...
August 2017: Journal of Nanomedicine & Nanotechnology
https://www.readbyqxmd.com/read/29073906/hdr-syndrome-with-a-novel-mutation-in-gata3-mimicking-a-congenital-x-linked-stapes-gusher-a-case-report
#14
Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin
BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis. CASE PRESENTATION: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations...
October 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29066580/intelligence-and-academic-achievement-with-asymptomatic-congenital-cytomegalovirus-infection
#15
Adriana S Lopez, Tatiana M Lanzieri, Angelika H Claussen, Sherry S Vinson, Marie R Turcich, Isabella R Iovino, Robert G Voigt, A Chantal Caviness, Jerry A Miller, W Daniel Williamson, Craig M Hales, Stephanie R Bialek, Gail Demmler-Harrison
OBJECTIVES: To examine intelligence, language, and academic achievement through 18 years of age among children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected infants. METHODS: We used growth curve modeling to analyze trends in IQ (full-scale, verbal, and nonverbal intelligence), receptive and expressive vocabulary, and academic achievement in math and reading. Separate models were fit for each outcome, modeling the change in overall scores with increasing age for patients with normal hearing (n = 78) or with sensorineural hearing loss (SNHL) diagnosed by 2 years of age (n = 11) and controls (n = 40)...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#16
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29054432/expression-pattern-of-eya4-in-the-common-marmoset-callithrix-jacchus-cochlea
#17
Saeko Matsuzaki, Makoto Hosoya, Hideyuki Okano, Masato Fujioka, Kaoru Ogawa
The eyes absent (EYA)-like genes are essential for the formation of sensory organs among fly (Drosophila melanogaster) and mammals. EYA4, one of the vertebrate genes of Eya family, is reported to be causative for late-onset mid-frequency sensorineural hearing loss in humans, while Eya4-deficient mice exhibited congenital profound deafness and otitis media with effusion due to the eustachian tube dysmorphology. Because of the species difference in the phenotype, the pathophysiology of EYA4 in the human cochlea has yet to be elucidated...
October 18, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29046308/progress-toward-development-of-a-vaccine-against-congenital-cytomegalovirus-infection
#18
Mark R Schleiss, Sallie R Permar, Stanley A Plotkin
A vaccine against congenital human cytomegalovirus (CMV) infection is a major public health priority. Congenital CMV causes substantial long-term morbidity in newborns, particularly sensorineural hearing loss (SNHL), and the public health impact of this infection on maternal and child health is under-recognized. Although progress toward development of a vaccine has been limited by an incomplete understanding of the correlates of protective immunity for the fetus, knowledge about some of the key components of the maternal immune response necessary for preventing trans-placental transmission is accumulating...
October 18, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/29037160/-homozygous-and-compound-heterozygous-mutation-in-3-turkish-family-with-jervell-and-lange-nielsen-syndrome-case-reports
#19
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/28990181/long-term-impairment-attributable-to-congenital-cytomegalovirus-infection-a-retrospective-cohort-study
#20
Marjolein J Korndewal, Anne Marie Oudesluys-Murphy, Aloys C M Kroes, Marianne A B van der Sande, Hester E de Melker, Ann C T M Vossen
AIM: This study aimed to estimate long-term impairment attributable to congenital cytomegalovirus infection (cCMV). METHOD: This nationwide cohort study retrospectively assessed cCMV in children born in 2008 in the Netherlands, testing 31 484 stored neonatal dried blood spots. Extensive medical data of cCMV-positive children (n=133) and matched cCMV-negative comparison children (n=274) up to 6 years of age were analysed. RESULTS: Moderate to severe long-term impairment was diagnosed in 24...
October 9, 2017: Developmental Medicine and Child Neurology
keyword
keyword
68555
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"