scholarly journals Diagnosing and Preventing Hearing Loss in the Genomic Age

2019 ◽  
Vol 23 ◽  
pp. 233121651987898 ◽  
Author(s):  
John H. McDermott ◽  
Leslie P Molina-Ramírez ◽  
Iain A Bruce ◽  
Ajit Mahaveer ◽  
Mark Turner ◽  
...  

Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.

2008 ◽  
Vol 18 (1) ◽  
pp. 4-9 ◽  
Author(s):  
Leisha Eiten ◽  
Dawna Lewis

Background: For children with hearing loss, the benefits of FM systems in overcoming deleterious effects of noise, distance, and reverberation have led to recommendations for use beyond classroom settings. It is important that audiologists who recommend and fit these devices understand the rationale and procedures underlying fitting and verification. Objectives: This article reviews previousguidelines for FM verification, addresses technological advances, and introduces verification procedures appropriate for current FM and hearing-aid technology. Methods: Previous guidelines for verification of FM systems are reviewed. Those recommendations that are appropriate for current technology are addressed, as are procedures that are no longer adequate for hearing aids and FM systems utilizing more complex processing than in the past. Technological advances are discussed, and an updated approach to FM verification is proposed. Conclusions: Approaches to verification andfitting of FM systems must keep pace with advances in hearing-aid and FM technology. The transparency approach addressed in this paper is recommended for verification of FM systems coupled to hearing aids.


2021 ◽  
Vol 9 ◽  
Author(s):  
Ryan Belcher ◽  
Frank Virgin ◽  
Jessica Duis ◽  
Christopher Wootten

Hearing loss is one of the most common concerns for presentation for a geneticist. Presentation prior to the age of one (congenital hearing loss), profound sensorineural hearing loss (SNHL), and bilateral hearing loss are sensitive and should raise concern for genetic causes of hearing loss and prompt referral for genetic testing. Genetic testing particularly in this instance offers the opportunity for anticipatory guidance including possible course of the hearing loss over time and also connection and evaluation for additional congenital anomalies that may be associated with an underlying syndrome vs. isolated genetic hearing loss.


2004 ◽  
Vol 23 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Jennifer McMurray

EACH YEAR APPROXIMATELY 460,000 infants—nearly 12 percent of all babies born in the U.S.—are born prematurely.1 Technological advances in the medical and nursing care of premature infants over the past decade have increased survival rates among preterm newborns, especially of very low birth weight (VLBW) infants. Survival rates are as high as 49 percent for infants weighing 501–750 gm at birth, 85 percent for infants weighing 751–1,000 gm, 93 percent for infants weighing 1,001–1,250 gm, and 96 percent for infants weighing 1,251–1,500 gm.2 Although 50–60 percent of VLBW infants have normal outcomes, morbidity rates range from 40 to 50 percent.3 Because of this incidence of morbidity, premature infants require comprehensive primary care follow-up after discharge from the NICU.


2010 ◽  
Vol 20 (1) ◽  
pp. 12-19 ◽  
Author(s):  
Melody Harrison

Abstract Although outcomes for children with cochlear implants have been the focus of investigation in the past 20 years, children with hearing loss in the mild-to severe range have received much less attention from researchers. This brief article discusses the current state of knowledge regarding children with all degrees of hearing loss.


2017 ◽  
Vol 26 (2) ◽  
pp. 129-142 ◽  
Author(s):  
Kelsey A. Dumanch ◽  
Lenore Holte ◽  
Tammy O'Hollearn ◽  
Elizabeth Walker ◽  
Jacob Clark ◽  
...  

Purpose In this study, we examined the association between risk factors for hearing loss and early childhood hearing status (normal hearing, congenital hearing loss, or delayed-onset hearing loss). Follow-up rates of audiologic care following passed or referred birth screens for children with risk factors were also examined. Method A retrospective data review was completed on 115,039 children born from 2010 to 2012. Data analyses included prevalence rates, odds ratios, and Fisher exact tests of statistical significance. Results Ninety percent of children were born with no risk factors for hearing loss; of those, 99.9% demonstrated normal hearing by 3 years of age. Of the 10% of children born with risk factors, 96.3% demonstrated normal hearing by age 3, 1.4% presented with congenital hearing loss, and 2.3% demonstrated permanent hearing loss by age 3. Factors that placed children at the highest risk of congenital hearing impairment were neurodegenerative disorders, syndromes, and congenital infections. Factors that placed children at the highest risk of developing permanent postnatal hearing loss were congenital cytomegalovirus, syndromes, and craniofacial anomalies. Conclusions Certain risk factors place a child at significantly greater risk of congenital hearing impairment or developing permanent hearing loss by age 3. Follow-up diagnostic testing should remain a priority for children with certain risk factors for hearing loss.


2017 ◽  
Vol 01 (03) ◽  
pp. E160-E170
Author(s):  
Christoph Straube ◽  
Stefanie Bette ◽  
Thomas Pyka ◽  
Heike Einhellig ◽  
Claus Zimmer ◽  
...  

AbstractImaging of intracranial neoplasms has significantly changed over the past two decades. This overview discusses the current state of diagnostic imaging for the three most common tumor types, namely gliomas, metastases and meningiomas, and describes the underlying technical principles as well as their application in diagnosis, treatment planning and follow-up.


2009 ◽  
Vol 19 (2) ◽  
pp. 72-78
Author(s):  
Rebecca L. Nelson Crowell ◽  
Julie Hanenburg ◽  
Amy Gilbertson

Abstract Audiologists have a responsibility to counsel patients with auditory concerns on methods to manage the inherent challenges associated with hearing loss at every point in the process: evaluation, hearing aid fitting, and follow-up visits. Adolescents with hearing loss struggle with the typical developmental challenges along with communicative challenges that can erode one's self-esteem and self-worth. The feeling of “not being connected” to peers can result in feelings of isolation and depression. This article advocates the use of a Narrative Therapy approach to counseling adolescents with hearing loss. Adolescents with hearing loss often have problem-saturated narratives regarding various components of their daily life, friendships, amplification, academics, etc. Audiologists can work with adolescents with hearing loss to deconstruct the problem-saturated narratives and rebuild the narratives into a more empowering message. As the adolescent retells their positive narrative, they are likely to experience increased self-esteem and self-worth.


VASA ◽  
2019 ◽  
Vol 48 (1) ◽  
pp. 35-46
Author(s):  
Stephen Hofmeister ◽  
Matthew B. Thomas ◽  
Joseph Paulisin ◽  
Nicolas J. Mouawad

Abstract. The management of vascular emergencies is dependent on rapid identification and confirmation of the diagnosis with concurrent patient stabilization prior to immediate transfer to the operating suite. A variety of technological advances in diagnostic imaging as well as the advent of minimally invasive endovascular interventions have shifted the contemporary treatment algorithms of such pathologies. This review provides a comprehensive discussion on the current state and future trends in the management of ruptured abdominal aortic aneurysms as well as acute aortic dissections.


TAPPI Journal ◽  
2015 ◽  
Vol 14 (1) ◽  
pp. 51-60
Author(s):  
HONGHI TRAN ◽  
DANNY TANDRA

Sootblowing technology used in recovery boilers originated from that used in coal-fired boilers. It started with manual cleaning with hand lancing and hand blowing, and evolved slowly into online sootblowing using retractable sootblowers. Since 1991, intensive research and development has focused on sootblowing jet fundamentals and deposit removal in recovery boilers. The results have provided much insight into sootblower jet hydrodynamics, how a sootblower jet interacts with tubes and deposits, and factors influencing its deposit removal efficiency, and have led to two important innovations: fully-expanded sootblower nozzles that are used in virtually all recovery boilers today, and the low pressure sootblowing technology that has been implemented in several new recovery boilers. The availability of powerful computing systems, superfast microprocessors and data acquisition systems, and versatile computational fluid dynamics (CFD) modeling capability in the past two decades has also contributed greatly to the advancement of sootblowing technology. High quality infrared inspection cameras have enabled mills to inspect the deposit buildup conditions in the boiler during operation, and helped identify problems with sootblower lance swinging and superheater platens and boiler bank tube vibrations. As the recovery boiler firing capacity and steam parameters have increased markedly in recent years, sootblowers have become larger and longer, and this can present a challenge in terms of both sootblower design and operation.


2020 ◽  
Vol 26 (1) ◽  
pp. 31-36
Author(s):  
Md Zakaria Sarkar ◽  
AHM Ferdows Nur ◽  
Utpal Kumar Dutta ◽  
Muhammad Rafiqul Islam ◽  
Debabrota Roy ◽  
...  

Objective: The aim of this study was to evaluate hearing outcome after stapedotomy in patients with Otosclerosis. Methods: This cross sectional study was carried out from July 2017 to January 2019 in National Institute of ENT, Unit V. About 22 patients with Otosclerosis were included in this study. Diagnosis of Otosclerosis was based on the history, medical status with Otoscopy, Tuning fork tests and Audiometric tests. We compiled data on the pre and post operative air-bone gap (ABG) at 0.5, 1, 2 KHZ. The ABG was Calculated using AC and BC thresholds on the same audiogram. Post operative hearing gain was then Calculated from the ABG before the operation minus the ABG of the last follow up examination Results: In this study most of the cases were age group 14-30 years (72.7%), female (54.5%). Most common symptoms was progressive hearing loss, tinnitus (77.8%).The average preoperative hearing loss in this study was (AC) was 48.31±7.68. The average post opt. hearing (AC) at follow up was 28.95±10.30 with an average hearing gain of 15.40±8.53 dB which was significant. The average pre-operative ABG was 28.99 dB ± 8.10. The average post opt. ABG was analyzed at 1 follow up showed ABG 13.18±8.09 dB which was found to be significant. Conclusion: Stapedotomy is an effective surgical procedure for the treatment of otosclerosis which leads to improvement in patient’s quality of life. A favorable hearing outcome can be obtained by the combination of experienced hands with minimal surgical trauma and appropriate surgical technique. Bangladesh J Otorhinolaryngol; April 2020; 26(1): 31-36


Sign in / Sign up

Export Citation Format

Share Document