Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

2006 ◽  
Vol 140A (8) ◽  
pp. 827-836 ◽  
Author(s):  
Dinah Yaeger ◽  
Jennifer McCallum ◽  
Kathy Lewis ◽  
Lisa Soslow ◽  
Udayan Shah ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Clinical Examination

scholarly journals Audit of the Aetiological Investigations Performed in Children with Sensorineural Hearing Loss At Salford

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Saud K AlHajeri ◽  
Dr Mohammed Iqbal
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Gold Standard ◽  
Sensorineural Hearing ◽  
British Association ◽  
Hearing Tests ◽  
Work Up

Objective: This project aims to look at the Audiovestibular Physician’s practice at Salford and how closely it aligns with the gold standard guidelines set in the protocol lately published by the British Association of Audiological Physicians. Method: An audit was done retrospectively on 20 patients suffering from sensorineural hearing loss. As such, patient notes were utilised to ascertain which aetiological investigations have been completed and which were not. Any inadequacy in the aetiological work up has been dissected to help know the underlying reasons. Results: All patients had a thorough history taken and were comprehensively physically examined. 95% of patients underwent imaging in the form of MRI/CT. 80% received CMV testing. 75% underwent ECG testing. 60% received family hearing tests. Only 35% had ophthalmology examinations and 25% underwent urine and genetic testing. Conclusion: In some cases, the low compliance rates were due to the Audiovestibular Physician not ordering the investigation as part of the aetiological work up. This could be improved with the use of a dedicated checklist to act as an aid to the physician. Moreover, genetic counselling has been proposed to attempt to boost the compliance rates with genetic testing and similarly, leaflets briefing patients’ families about the importance of undergoing hearing tests themselves is another promising proposition to help improve the adherence

scholarly journals The management of acute otitis media

1984 ◽  
Vol 22 (14) ◽  
pp. 53-54
Keyword(s):  
Hearing Loss ◽  
Otitis Media ◽  
Clinical Examination ◽  
Middle Ear ◽  
Acute Otitis Media ◽  
Infectious Complications ◽  
Middle Ear Effusion ◽  
Suppurative Otitis Media ◽  
Painful Condition ◽  
Ear Effusion

Acute suppurative otitis media (AOM) is a common, painful condition affecting 20% of children under 4 years at least once a year,1 and perhaps more in infancy when clinical examination is most difficult. Infectious complications such as mastoiditis, meningitis and cerebral abscess are now rare, but chronic middle ear effusion and hearing loss remain common. Hearing loss may persist long after the infective episode,2 and may impair learning.

scholarly journals Human oocyte maturation arrest caused by a novel missense mutation in TUBB8

2018 ◽  
Vol 46 (9) ◽  
pp. 3759-3764 ◽  
Author(s):  
Jingjing Xiang ◽  
Wei Wang ◽  
Chunfeng Qian ◽  
Jiangyang Xue ◽  
Ting Wang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Oocyte Maturation ◽  
Clinical Examination ◽  
Sanger Sequencing ◽  
Mutation Screening ◽  
Pcr Amplification ◽  
Human Oocyte ◽  
Maturation Arrest ◽  
Class Viii

Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron–exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. Conclusion Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.

Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss

2008 ◽  
Vol 17 (3) ◽  
pp. 252-260 ◽  
Author(s):  
Kara A. Withrow ◽  
Sarah Burton ◽  
Kathleen S. Arnos ◽  
Andrea Kalfoglou ◽  
Arti Pandya
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Genetic Services

scholarly journals Parental Narratives About Genetic Testing for Hearing Loss: A One Year Follow Up Study

2007 ◽  
Vol 16 (6) ◽  
pp. 775-787 ◽  
Author(s):  
Girija Kaimal ◽  
Annie G. Steinberg ◽  
Sara Ennis ◽  
Sue Moyer Harasink ◽  
Rachel Ewing ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Follow Up Study ◽  
One Year

Utility of Genetic Testing for the Detection of Late-Onset Hearing Loss in Neonates

2013 ◽  
Vol 22 (2) ◽  
pp. 209-215 ◽  
Author(s):  
B. Gail Lim ◽  
Reese H. Clark ◽  
Amy S. Kelleher ◽  
Zhili Lin ◽  
Alan R. Spitzer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Late Onset

Prevalence of Menière's Disease in General Population of Southern Finland

2005 ◽  
Vol 133 (5) ◽  
pp. 762-768 ◽  
Author(s):  
Mari Havia ◽  
Erna Kentala ◽  
Ilmari PyykkÖ
Keyword(s):  
Hearing Loss ◽  
General Population ◽  
Clinical Examination ◽  
Population Based ◽  
Meniere’S Disease ◽  
Menière’S Disease ◽  
Meniere's Disease ◽  
Ménière’S Disease ◽  
Menière's Disease ◽  
Ménière's Disease

OBJECTIVE: To study the prevalence of Menière's disease (MD) in the general population of Southern Finland. STUDY DESIGN AND SETTING: Prospective study based on population register data. A questionnaire was sent to 5000 randomly selected persons aged 12 years or more living in the Helsinki University Hospital area. We enquired about whether recipients had experienced vertigo associated with a moving sensation, hearing loss, or tinnitus. For exclusion purposes, we also asked about general illnesses, ear infections, former head and ear traumas, noise exposure, medication, and use of tobacco and alcohol. To assess the validity of the population-based study, we randomly selected a sample of 100 people among those reporting vertigo. They were clinically examined at our vestibular unit. The clinical examination was supplemented by audiologic and otoneurologic tests. RESULTS: The response rate was 63%. In the final study sample of 3116 people, 216 reported the triad of vertigo, hearing loss, and tinnitus. By using the most recent criteria of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology–Head and Neck Surgery, we were able to identify 16 definite MD patients from the total sample, yielding a prevalence of 513 of 100,000 persons. Among the 16 MD subjects, 9 patients had already been diagnosed with MD and 1 patient was diagnosed during the clinical examination. A peak prevalence of 1709 of 100,000 was seen in the age group 61 to 70 years. CONCLUSIONS: Our population-based estimate of MD prevalence is much higher than in previous reports.

scholarly journals Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

2015 ◽  
Vol 89 (4) ◽  
pp. 466-472 ◽  
Author(s):  
H. Moteki ◽  
H. Azaiez ◽  
K.T. Booth ◽  
A.E. Shearer ◽  
C. M. Sloan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Allele Frequency
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