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This page shows you the latest news and research items in this category.

cCMV and bilateral hearing loss, with possibility for intervention
In this issue of The Journal, investigators from three referral centers in Paris for the evaluation of children with hearing loss pooled cases of 100 children with bilateral hearing loss evaluated before 3 years of age. Dried blood spot (DBS) from Guthrie cards were still available for these children; polymerase chain reaction testing for cytomegalovirus (CMV) was performed. Other causes of congenital deafness, including connexin gene defects, were sought in 85 of the children who had comprehensive appraisals. Eight children (8%) had congenital cytomegalovirus (cCMV), 6 of whom were not diagnosed previously. In 52 children...
Source: The Journal of Pediatrics - February 28, 2013 Category: Pediatrics Authors: Sarah S. Long Tags: The Editors' Perspectives Source Type: research

All ASL Episode on Switched at Birth!
The National Association of the Deaf (NAD) is excited to share the remarkable news of an all American Sign Language episode to happen on Monday, March 4th on mainstream television! On a fictional TV series, ABC Family's Switched At Birth, deaf students fear their deaf school will be shut down. Students, inspired by the real-life "Deaf President Now" protest held 25 years ago at Gallaudet University, decide to lead their own protest. Will Daphne and other deaf students succeed to save the Carlton School for the Deaf?read more (Source: National Association of the Deaf)
Source: National Association of the Deaf - February 28, 2013 Category: Audiology Authors: Lizzie Source Type: news

Millions Have Hearing Loss That Can Be Improved or Prevented
Source: World Health Organization Related MedlinePlus Pages: Hearing Disorders and Deafness, Hearing Problems in Children (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - February 28, 2013 Category: Consumer Health News Source Type: news

The Headphone Fad - Mixed Signals to Our Children
If you have kids, they're probably very much into the latest headphone rage. With a pair of high class headphones, they can tune into their favorite music anytime, anywhere without distraction or care. When used properly, headphones can be practical and useful gadgets that enhance musical pleasure. But what happens when this equipment is misused or overused or handled without wisdom and care? (Source: Disabled World)
Source: Disabled World - February 27, 2013 Category: Disability Tags: Deaf Communication Source Type: news

Taking epilepsy drug led to ALL FIVE of my children having conditions from autism to deafness
Emma Murphy, from Whitefield in Greater Manchester, is now calling for a public inquiry into the drug Epilim and wants to raise awareness of the dangers of taking the anti-seizure drug to young women. (Source: the Mail online | Health)
Source: the Mail online | Health - February 27, 2013 Category: Consumer Health News Source Type: news

Deaf Cooperation and Relay Selection Strategies for Secure Communication in Multiple Relay Networks
In this paper, we investigate the roles of cooperative jamming (CJ) and noise forwarding (NF) in improving the achievable secrecy rates of a Gaussian wiretap channel (GWT). In particular, we study the role of a deaf helper in confusing the eavesdropper in a GWT channel by either transmitting white Gaussian noise (cooperative jamming) or by transmitting a dummy codeword of no context yet drawn from a codebook known to both the destination and the eavesdropper (noise forwarding). We first derive the conditions under which each mode of deaf cooperation improves over the secrecy capacity of the original wiretap channel and sho...
Source: IEEE Transactions on Signal Processing - February 27, 2013 Category: Biomedical Engineering Source Type: research

Researchers Identify Forerunners Of Inner-Ear Cells That Enable Hearing
Researchers at the Stanford University School of Medicine have identified a group of progenitor cells in the inner ear that can become the sensory hair cells and adjacent supporting cells that enable hearing. Studying these progenitor cells could someday lead to discoveries that help millions of Americans suffering from hearing loss due to damaged or impaired sensory hair cells. "It's well known that, in mammals, these specialized sensory cells don't regenerate after damage," said Alan Cheng, MD, assistant professor of otolaryngology... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 27, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL
ton & Terry-Lynn Young (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 27, 2013 Category: Genetics & Stem Cells Authors: Nelly AbdelfatahDavid A McComiskeyLance DoucetteAnne GriffinSusan J MooreCarol NegrijnKathy A HodgkinsonJustin J KingMani LarijaniJim HoustonSusan G StantonTerry-Lynn Young Tags: deafness KCNQ4 DFNA2 ADSNHL audio profiles novel mutation Source Type: research

Youth Ambassador Program Name Survey
During the 2012 NAD Conference last summer, the NAD unveiled a new program which has been tentatively named the NAD Youth Ambassador Program (NYAP). At the 40th anniversary of the Miss Deaf America Competition, we bid our farewells to the pageant for young women. As the last Miss Deaf America Ambassador, Chanel Gleicher is still performing her duties until the next NAD Conference. We are all very excited to get started with the new program!read more (Source: National Association of the Deaf)
Source: National Association of the Deaf - February 26, 2013 Category: Audiology Authors: lizzie.sorkin Source Type: news

Deaf: Ringing in your ear? It could be a sign you're just moments from going deaf
Actress Jessica-Jane Clement was told she had only 10 per cent hearing in her right ear, and her hearing loss was irreversible. (Source: the Mail online | Health)
Source: the Mail online | Health - February 25, 2013 Category: Consumer Health News Source Type: news

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss
Conclusion: Clinicians should consider DNMT1 mutations in patients presenting with FTD or primary memory decline who also have sensory neuropathy and hearing loss. Amino acid Tyr495 is a hot spot for HSAN1E, distinct from exon 21 mutations associated with narcolepsy. (Source: Neurology)
Source: Neurology - February 25, 2013 Category: Neurology Authors: Klein, C. J., Bird, T., Ertekin-Taner, N., Lincoln, S., Hjorth, R., Wu, Y., Kwok, J., Mer, G., Dyck, P. J., Nicholson, G. A. Tags: Peripheral neuropathy, Memory, All Neurotology, All Genetics ARTICLE Source Type: research

Seizure, deafness and renal agenesis: A rare case of barakat syndrome
Tanmayjyoti Sau, Atri Chatterjee, Kaushik Ghosh, Sandip DeyAnnals of Indian Academy of Neurology 2013 16(1):91-93Etiologic diagnosis of seizure requires proper consideration of apparently unrelated clinical features of the patient. Here, we report the case of a patient of status epilepticus with moderate-to-severe bilateral sensorineural deafness. Investigations showed extensive intracranial calcification, hypoparathyroidism and unilateral renal agenesis. The features were consistent with Barakat syndrome, a rare developmental disorder associated with mutations in the GATA3 gene. To the best of our knowledge, this is the f...
Source: Annals of Indian Academy of Neurology - February 25, 2013 Category: Neurology Authors: Tanmayjyoti SauAtri ChatterjeeKaushik GhoshSandip Dey Source Type: research

Resveratrol in grapes and wine protects from deafness and Alzheimer's
There's new hope for a natural way to prevent two of the most dreaded conditions that most often hit elders - hearing loss and Alzheimer's disease. According to a new study just published online ahead of print in the journal Otolaryngology-Head and Neck Surgery, resveratrol... (Source: NaturalNews.com)
Source: NaturalNews.com - February 24, 2013 Category: Consumer Health Advice Source Type: news

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
MEDNIK syndrome—acronym for mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia—is caused by AP1S1 gene mutations, encoding 1A, the small subunit of the adaptor protein 1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane. MEDNIK syndrome was first reported in a few French-Canadian families sharing common ancestors, presenting a complex neurocutaneous phenotype, but its pathogenesis is not completely understood. A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showe...
Source: Brain - February 24, 2013 Category: Neurology Authors: Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., de Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G., Dionisi-Vici, C. Tags: Original Articles Source Type: research

Animals Given Resveratrol Experience Reduced Hearing And Cognitive Decline
Resveratrol, a substance found in red grapes and red wine, may have the potential to protect against hearing and cognitive decline, according to a published laboratory study from Henry Ford Hospital in Detroit. The study shows that healthy rats are less likely to suffer the long-term effects of noise-induced hearing loss when given resveratrol before being exposed to loud noise for a long period of time... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 22, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Chronic neurotrophin delivery promotes ectopic neurite growth from the spiral ganglion of deafened cochleae without compromising the spatial selectivity ofcochlear implants
Abstract Cochlear implants restore hearing cues in the severe‐profoundly deaf by electrically stimulatingspiral ganglion neurons (SGNs). However, SGNs degeneratefollowing loss of cochlear hair cells, due at least in partto a reduction in the endogenous neurotrophin (NT) supply, normally provided by hair cells and supporting cellsof the organ of Corti. Deliveringexogenous NTs to the cochlea can rescue SGNs from degenerationand canalsopromote the ectopic growthof SGN neurites.This resprouting maydisruptthe cochleotopic organizationupon which cochlear implants rely to impart pitch cues. Using retrograde labeling and confoca...
Source: The Journal of Comparative Neurology - February 22, 2013 Category: Neurology Authors: Thomas G. Landry, James B. Fallon, Andrew K. Wise, Robert K. Shepherd Tags: Research Article Source Type: research

NAD Welcomes New Director of Communications: Elizabeth “Lizzie” Sorkin
The National Association of the Deaf is pleased to announce the hiring of Elizabeth “Lizzie” Sorkin as the new Director of Communications, beginning on February 25, 2013. In this capacity, Ms. Sorkin will be responsible for all aspects of social media, publicity, and marketing on behalf of the NAD. read more (Source: National Association of the Deaf)
Source: National Association of the Deaf - February 20, 2013 Category: Audiology Authors: admin Source Type: news

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]
Conclusions: Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII. (Source:...
Source: Behavioral and Brain Functions - February 18, 2013 Category: Neurology Authors: Julia SchröderAnne LäßigDanuta GaletzkaAngelika PetersJohn CastleStefan DiederichUlrich ZechnerWibke Müller-ForellAnnerose KeilmannOliver Bartsch Source Type: research

The Plasma Membrane Calcium Pump In Health And Disease
Abstract The Ca2+ ATPases of the plasma membrane (PMCA pumps) export Ca2+ from all eukaryotic cells. In mammals they are the products of 4 separate genes. PMCA1 and 4 are distributed ubiquitously, PMCA 2 and 3 are restricted to some tissues, the most important being the nervous system. Alternative splicing at two sites increases greatly the number of pump isoforms. The 2 ubiquitous isoforms are no longer considered as only housekeeping pumps, as they also perform tissue specific functions. The PMCAs are classical P‐type pumps, their reaction cycle repeating that of all other pumps of the family. Their 3D structure has no...
Source: FEBS Journal - February 18, 2013 Category: Research Authors: Marisa Brini, Tito Calì, Denis Ottolini, Ernesto Carafoli Tags: Review Article Source Type: research

Author Katherine Bouton Opens Up About Going Deaf
After going deaf at the age of 30, writer Katherine Bouton's entire life changed. In her new book, "Shouting Won't Help," Bouton shares how she came to terms with hearing loss, and why more attention needs to be paid to a condition that affects nearly 50 million Americans.» E-Mail This » Add to Del.icio.us (Source: NPR Health and Science)
Source: NPR Health and Science - February 15, 2013 Category: Consumer Health News Source Type: news

Element of the week: lead - video | @GrrlScientist
What do California condors, Beethoven and crime rates share in common?This week's element is lead, which has the atomic number 82 and the symbol Pb. Its symbol comes from the Latin word, plumbum, for lead. Lead rarely occurs in its elemental form in the wild. It is typically found in ores along with copper, and in smaller quantities with zinc and silver. Pure lead is a dense, soft and malleable metal with a lustrous bluish-white colour, although its surface quickly tarnishes to a dull grayish color in air. Lead is widespread and easy to work with, making it a popular material throughout the history of human tool-making. Le...
Source: Guardian Unlimited Science - February 15, 2013 Category: Science Authors: GrrlScientist Tags: Blogposts guardian.co.uk Science Source Type: news

The syndrome of deafness‐dystonia: Clinical and genetic heterogeneity
ABSTRACT The syndrome of deafness‐dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr‐Tranebjaerg syndrome, Woodhouse‐Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness‐dystonia syndrome. We evaluated 20 patients with deafness‐dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmal...
Source: Movement Disorders - February 15, 2013 Category: Neurology Authors: Maja Kojovic, Isabel Pareés, Tania Lampreia, Karolina Pienczk‐Reclawowicz, Georgia Xiromerisiou, Ignacio Rubio‐Agusti, Milica Kramberger, Miryam Carecchio, Anas M. Alazami, Francesco Brancati, Jaroslaw Slawek, Zvezdan Pirtosek, Enza Maria Valente, Fo Tags: Research Article Source Type: research

Three-Week Auditory Training Regimen Aids Comprehension In Hearing-Impaired Children
Children with hearing loss struggle to hear in noisy school classrooms, even with the help of hearing aids and other devices to amplify their teacher's voice. Training the brain to filter out background noise and thus understand spoken words could help the academic performance and quality of life for children who struggle to hear, but there's been little evidence that such noise training works in youngsters. A new report showed about a 50 percent increase in speech comprehension in background noise when children with hearing impairments followed a three-week auditory training regimen... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 14, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Brainstem Manifestations in Neuromyelitis Optica (P02.144)
CONCLUSIONS: These results confirms a relatively high frequency of brainstem signs in NMO. We found a majority of vomiting and hiccups as previously described.These symptoms seem to be more common in non-Caucasian populations,and in AQP-4 positive patients that could be explained by a genetic susceptibility.In the majority of patients,the brainstem signs were inaugural or appear early in the course of NMO.Disclosure: Dr. Kremer has nothing to disclose. Dr. Mealy has nothing to disclose. Dr. Jacob has nothing to disclose. Dr. Nakashima has received personal compensation for activities with Bayer Schering, Novartis, and Biog...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Kremer, L., Mealy, M., Jacob, A., Nakashima, I., Cabre, P., Bigi, S., Paul, F., Jarius, S., Aktas, O., Elsone, L., Mutch, K., Levy, M., Takai, Y., Collongues, N., Banwell, B., Fujihara, K., De Seze, J. Tags: P02 Neuromyelitis Optica Source Type: research

Xq26.3 Microdeletion in a Male with Wildervanck Syndrome (P02.255)
CONCLUSIONS: Analysis of this patient's phenotype and genotype open the possibility that X-chromosome deletions may be a cause of WS with larger deletions being lethal to males and that FGF13 mutations may be a cause of WS.Disclosure: Dr. Bosley has nothing to disclose. Dr. Kondkar has nothing to disclose. Dr. Alorainy has nothing to disclose. Dr. Khan has nothing to disclose. Dr. Oystreck has nothing to disclose. Dr. Abu-Amero has nothing to disclose. (Source: Neurology)
Source: Neurology - February 14, 2013 Category: Neurology Authors: Bosley, T., Kondkar, A., Alorainy, I., Khan, A., Oystreck, D., Abu-Amero, K. Tags: P02 Neuro-ophthalmology I Source Type: research

Pseudo-Susac's - A Case of Cochleo-Vestibulopathy Due to Intravascular Lymphoma (P02.256)
CONCLUSIONS: Intravascular lymphoma is challenging to diagnose and should be included in the differential diagnosis of suspected central nervous system vasculopathy. Brain biopsy may be required.Disclosure: Dr. Patel has nothing to disclose. Dr. Kattah has received personal compensation for activities with Biogen as a consultant. Dr. Kattah has receied personal compensation in an editorial capacity for Bayere. Dr. Pula has received personal compensation for activities with Bayer, Lundbeck, and Biogen. Dr. Gujrati has nothing to disclose. Dr. Newman-Toker has nothing to disclose. (Source: Neurology)
Source: Neurology - February 14, 2013 Category: Neurology Authors: Patel, P., Kattah, J., Pula, J., Gujrati, M., Newman-Toker, D. Tags: P02 Neuro-ophthalmology I Source Type: research

Molecular therapy: Deafness diverted
Nature 494, 7436 (2013). doi:10.1038/494150a Molecular therapy improves hearing and balance in a mouse model of a hereditary disease that causes deafness and balance disorders.In humans, Usher syndrome is often caused by a mutation in the gene USH1C that results in the production of a truncated form of (Source: Nature)
Source: Nature - February 13, 2013 Category: Research Tags: Research Highlights Source Type: research

Neural substrates predicting improvement of tinnitus after cochlear implantation in patients with single-sided deafness.
Abstract Notwithstanding successful reduction of tinnitus after cochlear implantation (CI) in patients with single-sided deafness (SSD) in recent studies, neither the exact mechanism of suppression nor the predictors of the amount of improvement are fully understood yet. We collected quantitative electroencephalography (qEEG) data from nine SSD patients who underwent CI for tinnitus management. By correlating the degree of improvement in tinnitus intensity and tinnitus-related distress with preoperative source-localized qEEG findings and comparing qEEG findings of patients with marked improvement after CI with thos...
Source: Hearing Research - February 13, 2013 Category: Audiology Authors: Song JJ, Punte AK, De Ridder D, Vanneste S, Van de Heyning P Tags: Hear Res Source Type: research

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss
ConclusionsThe site of hypodensities on temporal bone CT images in OI corresponds to presence and type of hearing loss determined by audiometry. The more severe the hearing loss, the more affected temporal bone structures in OI. Level of Evidence4. Laryngoscope, 2013 (Source: The Laryngoscope)
Source: The Laryngoscope - February 12, 2013 Category: ENT & OMF Authors: Freya K. R. Swinnen, Jan W. Casselman, Els M. R. Leenheer, Cor W. R. J. Cremers, Ingeborg J. M. Dhooge Tags: Otology/Neurotology Source Type: research

Well: Straining to Hear and Fend Off Dementia
There is no clear explanation why, but compared with individuals with normal hearing, those with hearing loss have an increased risk of developing dementia. (Source: NYT Health)
Source: NYT Health - February 11, 2013 Category: Consumer Health News Authors: By KATHERINE BOUTON Tags: Hearing Aids Deafness Ears and Hearing alzheimers Body Dementia Memory Featured Aging Source Type: news

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: Identification of two novel mutations in Brazilian patients
Conclusion: The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss Brazilian patients. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to the patients and their families. (Source: International Journal of Pediatric Otorhinolaryngology)
Source: International Journal of Pediatric Otorhinolaryngology - February 11, 2013 Category: ENT & OMF Authors: Vanessa Cristine Sousa de Moraes, Nathalia Zocal Pereira dos Santos, Priscila Zonzini Ramos, Maria Carolina Costa Melo Svidnicki, Arthur Menino Castilho, Edi Lúcia Sartorato Tags: Research papers Source Type: research

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes
Conclusions: The findings of the present study challenge the traditional diagnostic strategy in which testing is generally considered complete upon identification of a double-allele mutation within one gene, with significant implications for genetic counseling and risk prediction. Our results suggest that, with advances in sequencing technology, it will be possible and necessary to test all known deafness genes in the near future, as this will likely allow more accurate genetic counseling of patients. (Source: International Journal of Pediatric Otorhinolaryngology)
Source: International Journal of Pediatric Otorhinolaryngology - February 11, 2013 Category: ENT & OMF Authors: Shasha Huang, Dongyi Han, Guojian Wang, Yongyi Yuan, Yueshuai Song, Mingyu Han, Zhengyi Chen, Pu Dai Tags: Research papers Source Type: research

Assessing Literacy in Deaf Individuals
Neurocognitive Measurement and PredictorsHumans’ development of literacy has been a recent focus of intense research across the reading, cognitive, and neuroscience fields. But for individuals who are deaf—who rely greatly on their visual skills for language and learning—the findings don’t necessarily apply, leaving theoretical and practical gaps in approaches to their education.Assessing Literacy in Deaf Individuals: Neurocognitive ... (Source: Springer Psychology titles)
Source: Springer Psychology titles - February 11, 2013 Category: Psychiatry & Psychology Tags: Child and School Psychology Source Type: news

Pubertal Induction in Adult Males with Isolated Hypogonadotropic hypogonadism using Long‐Acting Intramuscular Testosterone Undecanoate 1g depot (Nebido®)
Pubertal delay in males typically results from inadequate pulsatile secretion of hypothalamic gonadotropin‐releasing hormone (GnRH), resulting in a biochemical profile of hypogonadotropic hypogonadism (low serum testosterone with low or inappropriately normal LH and FSH). In younger teenagers, this is most commonly due to constitutional delay (CDP), but the presence of organic gonadotropin deficiency (eg. idiopathic hypogonadotropic hypogonadism ‐IHH) is supported by a history of cryptorchidism, the presence of non‐reproductive defects (anosmia, deafness, clefting, etc), and becomes exponentially more likely with inc...
Source: Clinical Endocrinology - February 10, 2013 Category: Endocrinology Authors: Anjali Santhakumar, Margaret Miller, Richard Quinton Tags: Letter Source Type: research

Molecular IGF-1 and IGF-1 Receptor Defects: From Genetics to Clinical Management.
Abstract Molecular defects of the insulin-like growth factor 1 gene (IGF1) are rare in the human. Only three homozygous and two families with heterozygous mutations of the IGF1 gene have been described, resulting in a variable degree of intrauterine and postnatal growth retardation, microcephaly, developmental delay and deafness. Detailed genetic analysis and functional experiments have shown that IGF-1 plays a key role in pre- and postnatal growth and development in human. Eleven patients with heterozygous and 2 patients with compound heterozygous mutations in the type 1 IGF1 receptor gene (IGF1R) have been report...
Source: Endocrine Development - February 10, 2013 Category: Endocrinology Authors: Walenkamp MJ, Losekoot M, Wit JM Tags: Endocr Dev Source Type: research

Partial fix found in mice for genetic disease
In a promising step against a genetic disease that causes deafness and gradual loss of vision, scientists have partly restored hearing with a single injection to young mice. (Source: WDSU.com - Health)
Source: WDSU.com - Health - February 9, 2013 Category: Consumer Health News Source Type: news

Study Addresses The Unique Issues Faced By Deaf And Hard Of Hearing Physicians
Deaf and hard of hearing (DHoH) people must overcome significant professional barriers, particularly in health care professions... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 8, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder
Conclusion: Our work expands the spectrum of mutation in OPA1, which may lead to severe multisystem neurological disorder. The molecular genetic cause of dominant optic atrophy in the Czech population is reported for the first time. We propose that regular cardiac follow‐up in patients diagnosed with dominant optic atrophy and widespread neurological disease should be considered. (Source: Acta Ophthalmologica)
Source: Acta Ophthalmologica - February 7, 2013 Category: Opthalmology Authors: Petra Liskova, Olga Ulmanova, Petr Tesina, Hana Melsova, Pavel Diblik, Hana Hansikova, Marketa Tesarova, Marcela Votruba Source Type: research

Dawn Keim: Deaf mother hears 8-year-old son's voice for first time after breakthrough surgery
Dawn Keim, 43, from El Paso, lost her hearing due to a debilitating genetic condition but has emerged from more than a decade of silence to hear her son Asher's voice for the first time. (Source: the Mail online | Health)
Source: the Mail online | Health - February 6, 2013 Category: Consumer Health News Source Type: news

In Mouse Model Of Usher Syndrome, Researchers Develop Rx For Deafness, Impaired Balance
Jennifer Lentz, PhD, Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing and balance can be rescued by a new therapy in a mouse model of Usher syndrome (Usher) that contains the mutation responsible for type 1C Usher. The results provide the first evidence that congenital deafness can be effectively overcome by treatment early in development to correct gene expression... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 6, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Parents Want to Talk Sex With Teens, But Fear Advice Falls on Deaf Ears
01/06/2011, Journal of Adolescent Health, Kids learn a great deal about sexuality from friends and the media, but parents and teens agree: Parents should be the most important providers of information about sex and sexuality. (Source: Health Behavior News Service)
Source: Health Behavior News Service - February 6, 2013 Category: Consumer Health News Source Type: news

Squamous Cell Carcinoma Arising from Keratitis-Ichthyosis-Deafness Syndrome.
Abstract Abstract is missing (Letter). PMID: 23388822 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - February 6, 2013 Category: Dermatology Authors: Mayama H, Fujimura T, Asano M, Kambayashi Y, Numata Y, Aiba S Tags: Acta Derm Venereol Source Type: research

Tiny Genetic Patch Stops Deafness
Researchers used a small genetic patch to partially restore hearing and balance in deaf mice with Usher syndrome, according to a new report published in Nature Medicine. The animal study, which is still in its early stages, could eventually develop into new treatments for Usher syndrome, a congenital hearing disorder which usually goes hand-in-hand with blindness as well. When the scientists injected the profoundly deaf mice with the genetic patch, they developed into partially hearing mice with no balance problems... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 5, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Cartilage Tympanoplasty In Pediatric Hearing Loss
Cartilage tympanoplasty can be performed successfully in 95 percent of young children when appropriate conditions exist, according to a study in the February 2013 issue of Otolaryngology-Head and Neck Surgery. "Pediatric tympanoplasty is a frequently performed procedure with varying reported success rates ranging between 35 percent and 94 percent. In general, tympanic membrane repair success in children is often perceived as lagging behind what is typically achieved in adults having similar underlying risk factors," the authors write... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 5, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Are deaf and hard-of-hearing physicians getting the support they need?
(University of California - Davis Health System) Deaf and hard-of-hearing people must overcome significant professional barriers, particularly in health care professions. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - February 5, 2013 Category: Global & Universal Source Type: news

Genetic patch 'stops deafness'
A tiny "genetic patch" can be used to prevent a form of deafness which runs in families, according to animal tests. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - February 4, 2013 Category: Consumer Health News Source Type: news

‘Genetic patch’ shows early promise for prevention of hereditary deafness
A new 'genetic patch' in early animal testing showed promising results for preventing a hereditary form of deafness, say scientists at the Rosalind Franklin University of Medicine and Science, Chicago, US. (Source: Pharmaceutical Technology)
Source: Pharmaceutical Technology - February 4, 2013 Category: Pharmaceuticals Source Type: news

Researchers develop Rx for deafness, impaired balance in mouse model of Usher syndrome
(Louisiana State University Health Sciences Center) Jennifer Lentz, Ph.D., Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing and balance can be rescued by a new therapy in a mouse model of Usher syndrome (Usher) that contains the mutation responsible for type 1C Usher. The results provide the first evidence that congenital deafness can be effectively overcome by treatment early in development to correct gene expression. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - February 4, 2013 Category: Global & Universal Source Type: news

Stressed-Out Women May Be More Sensitive to Sounds
Day-to-day noises like rattling cutlery can seem ear-piercing, study finds Source: HealthDay Related MedlinePlus Pages: Hearing Disorders and Deafness, Stress, Women's Health (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - February 3, 2013 Category: Consumer Health News Source Type: news

NAD & PepsiCo Join Forces to Bring ASL to the Big Game
ASL Artist John Maucere to Perform National Anthem Pre-Game at Super Bowl XLVII read more (Source: National Association of the Deaf)
Source: National Association of the Deaf - February 2, 2013 Category: Audiology Authors: admin Source Type: news