Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss

2010 ◽  
Vol 124 (9) ◽  
pp. 1007-1009 ◽  
Author(s):  
N Hiraki ◽  
T Udaka ◽  
H Yamamoto ◽  
Y Kadokawa ◽  
J Ohkubo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Thymidine Phosphorylase ◽  
Genetic Disorders ◽  
Genetic Research ◽  
Gastrointestinal Symptoms ◽  
Pure Tone Audiometry ◽  
Progressive Hearing Loss ◽  
Mitochondrial Neurogastrointestinal Encephalomyopathy ◽  
Thymidine Phosphorylase Activity ◽  
History Of

AbstractObjective:We report a rare case of mitochondrial neurogastrointestinal encephalomyopathy with hearing loss.Case report:A 46-year-old woman presented with a three-year history of progressive, bilateral hearing loss and tinnitus. She had been suffering from unexplained abdominal pain and diarrhoea for 20 years. When first seen, her otoscopic findings were normal, and pure tone audiometry showed mild and moderate hearing loss in her right and left ears, respectively. She also had: bilateral ophthalmoparesis, neck and limb muscle weakness, and hypoactive deep tendon reflexes on neurological examination; diffuse leukoencephalopathy on magnetic resonance imaging of the brain; and markedly reduced leukocyte thymidine phosphorylase activity. On the basis of these findings, the patient was diagnosed with mitochondrial neurogastrointestinal encephalomyopathy.Conclusion:Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disease caused by mutation of the thymidine phosphorylase gene, and is characterised by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms and abnormal mitochondria in muscle cells. Current advances in genetic research may reveal a higher prevalence of mitochondrial disorders than had previously been thought. Otolaryngologists should be aware of mitochondrial neurogastrointestinal encephalomyopathy and other rare genetic disorders when managing patients with progressive hearing loss.

Clinical Asssessment of Sensorineural Hearing Loss among Diabetes Mellitus Patients

2020 ◽  
Vol 28 (2) ◽  
pp. 112-119
Author(s):  
Raveendra P Gadag ◽  
Puneeth S Nayak ◽  
Tejaswini J
Keyword(s):  
Hearing Loss ◽  
Blood Glucose ◽  
Family History ◽  
Hearing Impairment ◽  
Fasting Blood Glucose ◽  
Bone Conduction ◽  
Pure Tone Audiometry ◽  
Chi Square ◽  
History Of ◽  
And Gender

Background: Hearing impairment is known to hamper the quality of life among patients, especially among diabetics due to the association of neuropathy with diabetes. However, the prevalence and degree of the SNHL depends upon different factors, such as age, gender, disease duration of DM, family history and glycemic status of the patients. Therefore, this study aimed to assess the association of SNHL with DM duration and familial DM and gender preponderance among SNHL–DM patients. Methods: Total 140 patients with DM were assessed for hearing impairment using Rinne, Weber and Absolute Bone Conduction Tests along with pure tone audiometry. Patients’ glycaemic status was determined by estimating fasting blood glucose (FBG) and post prandial blood glucose (PPBG) levels. Independent t-test, chi-square, ANOVA and Pearson’s correlation tests along with linear regression model were used to find association and correlation using R software. Results: Out of 140 patients, 60 were suffering from SNHL and majority were suffering from bilateral minimal hearing loss. SNHL was significantly associated with family history, age, duration of DM, FBG and PPBG levels were(Pvalues:1.79E08, 4.41E-06 and 0.02), however, significant correlated with duration of DM, FBS and PPBG level (r value:0.14–0.41).Furthermore, significant SNHL at 500 and 8000Hz was observed in the present study (Pvalue:0.002). Conclusion: A conclusive proof was drawn that family history of DM serve as a valuable variable in assessing the SNHL among DM patients.

Sudden Bilateral Sensorineural Hearing Loss Following Speedballing

2008 ◽  
Vol 19 (06) ◽  
pp. 461-464 ◽  
Author(s):  
Cynthia G. Fowler ◽  
Jennifer L. King
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Otoacoustic Emissions ◽  
Rare Complication ◽  
Pure Tone Audiometry ◽  
Sensorineural Hearing ◽  
Acoustic Reflexes ◽  
History Of ◽  
Bilateral Sensorineural Hearing Loss ◽  
The Right

Background: Hearing loss is an infrequently-reported consequence of recreational drug abuse. Although there are sporadic reports of hearing loss from heroin and cocaine ingested separately, there are no reports of hearing loss resulting from the combination of both drugs ingested simultaneously in the form of speedballing. Purpose: The purpose of this report is to document a case of bilateral sensorineural hearing loss associated with an episode of speedballing. Research Design: Case Report Data Collection And Analysis: The subject of this report was a 40-year-old man with a 20-year history of substance abuse. Data collected included a case history, pure tone audiometry, tympanometry and acoustic reflexes, and transient evoked otoacoustic emissions. Results: The audiologic evaluation indicated a mild to moderate, relatively flat, bilateral sensorineural hearing loss that was worse in the right ear. Conclusions: A bilateral sensorineural hearing loss involving both cochlear and neural pathology may be a rare complication of cocaine, heroin, or the combination of the two drugs.

Sneeze-induced pneumolabyrinth 15 years after stapedotomy

2021 ◽  
Vol 14 (7) ◽  
pp. e243575
Author(s):  
Ya Fang Amanda Cheang ◽  
Seng Beng Yeo
Keyword(s):  
Hearing Loss ◽  
Pure Tone Audiometry ◽  
Semicircular Canals ◽  
Acute Onset ◽  
Sensorineural Hearing ◽  
Upper Respiratory Tract ◽  
Mixed Hearing Loss ◽  
Hearing Thresholds ◽  
History Of ◽  
Vestibular Symptoms

Pneumolabyrinth refers to the presence of air within the inner ear and is a fairly common occurrence immediately after stapes surgery, but rarely occurs in a delayed manner years after the initial operation. We present a case of a patient with a history of left stapedotomy 15 years prior, who presented with acute onset vertigo, tinnitus and hearing loss in her operated ear. Her symptoms were preceded by an upper respiratory tract infection associated with bouts of sneezing. Examination revealed a spontaneous right beating nystagmus and positive head thrust to the left. Pure tone audiometry demonstrated a left mixed hearing loss which subsequently deteriorated to a profound sensorineural hearing loss. CT showed the presence of air within the left vestibule and semicircular canals. The patient underwent an exploratory tympanotomy and repair of perilymphatic leak with resolution of vestibular symptoms but no improvement in sensorineural hearing thresholds.

Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 100S-110S ◽  
Author(s):  
Keita Tsukada ◽  
Aya Ichinose ◽  
Maiko Miyagawa ◽  
Kentaro Mori ◽  
Mitsuru Hattori ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Late Onset ◽  
Mutation Screening ◽  
Pure Tone Audiometry ◽  
Vestibular Dysfunction ◽  
Supporting Evidence ◽  
Novel Mutations ◽  
Progressive Hearing Loss ◽  
Dynamic Posturography ◽  
Short Period

Objectives: To evaluate the clinical features of Japanese DFNA9 families with mutations of the COCH gene. Methods: Mutation screening was performed using targeted next-generation sequencing (NGS) for 63 previously reported deafness genes. The progression of hearing loss and vestibular dysfunction were evaluated by pure-tone audiometry, caloric testing, cVEMP, and computed dynamic posturography. Results: We detected 1 reported mutation of p.G88E and 2 novel mutations of p.I372T and p.C542R. The patients with the novel mutations of p.I372T and p.C542R within the vWFA2 domain showed early onset progressive hearing loss, and the patients with the p.G88E mutation showed late onset hearing loss and acute hearing deterioration over a short period. Vestibular symptoms were reported in the patients with p.G88E and p.C542R. Vestibular testing was performed for the family with the p.G88E mutation. Severe vestibular dysfunction was observed in the proband, and the proband’s son showed unilateral semicircular canal dysfunction with mild hearing loss. Conclusions: Targeted exon resequencing of selected genes using NGS successfully identified mutations in the relatively rare deafness gene, COCH, in the Japanese population. The phenotype is compatible with that described in previous reports. Additional supporting evidence concerning progressive hearing loss and deterioration of vestibular function was obtained from our study.

scholarly journals Relation between the duration of disease and audiogram findings in tubotympanic type of chronic suppurative otitis media after myringoplasty

2020 ◽  
Vol 6 (12) ◽  
pp. 2202
Author(s):  
Rajamohan Ganganamoni ◽  
Saai Ram Thejas
Keyword(s):  
Developing Countries ◽  
Hearing Loss ◽  
Otitis Media ◽  
Pure Tone ◽  
Pure Tone Audiometry ◽  
Chronic Suppurative Otitis Media ◽  
Suppurative Otitis Media ◽  
Early Closure ◽  
History Of ◽  
One Year

<p><strong>Background:</strong> Chronic suppurative otitis media (CSOM) has been an important cause of hearing loss and ear discharge in people affected by it for a significant time now. Its prevalence is more in developing countries where the socioeconomic status is low. Poor and overcrowded living conditions, poor hygiene and nutrition have been suggested as a basis for the widespread prevalence of CSOM in developing countries. Pure tone audiometry is the easiest and the most basic procedure which needs to be performed on any patient who has history of hearing loss irrespective of the nature of the disease and the cause surrounding it. Every initial evaluation for CSOM should include audiometric testing via air and bone along with pure tone thresholds. Aim of the study was to co-relate the hearing loss to the duration of the disease in the ear in patients with CSOM and to also associate the same to the corresponding hearing changes after myringoplasty.</p><p><strong>Methods: </strong>Sixty patients were taken to be part of the study after following a strict inclusion and exclusion criteria. With proper consent, they underwent pure tone audiogram and myringoplasty. Their air bone (AC) gap and air conduction (AC) threshold results were tabulated with the duration of the disease and a consensus was reached at.</p><p><strong>Results: </strong>It was observed that the hearing loss was much lesser if the duration of the disease was lesser than one year.  As the diagnosis was delayed, both the AB gap and mean AC threshold went up. The early closure of the perforation can significantly bridge the AB gap but the same cannot be said about the AC threshold as it seemed to be lesser affected by the duration.</p><p><strong>Conclusions: </strong>It can thus be concluded that AC threshold is quietly independent of the changes in the diseased middle ear as compared to the AB gap. This makes it a stronger tool in the assessment of hearing. The early diagnosis and management of tubotympanic type of CSOM can not only help in preventing complications but also aid in better hearing protection which in-turn helps in better social survival.</p>

Validation of self-reported hearing loss using television volume

2010 ◽  
Vol 125 (1) ◽  
pp. 18-21 ◽  
Author(s):  
B Ranganathan ◽  
P Counter ◽  
I Johnson
Keyword(s):  
Hearing Loss ◽  
Care Setting ◽  
Primary Care Setting ◽  
Pure Tone Audiometry ◽  
Specific Test ◽  
The North ◽  
History Of ◽  
Sensitivity Specificity ◽  
First Time ◽  
Self Administered Questionnaire

AbstractObjective:To assess the diagnostic utility of using television volume as a marker for hearing loss.Study design:Prospective study using a self-administered questionnaire.Setting:ENT and audiology out-patient departments in the north of England.Participants:One hundred and seventeen patients with a history of hearing loss, undergoing pure tone audiometry for the first time.Main outcome measures:sensitivity, specificity, diagnostic accuracy, and positive and negative predictive value of television volume as a marker of hearing loss.Results:The data indicated that if the patient (or their partner or parent) reported viewing television with an increased volume, then there was a 68 per cent chance of the patient having a hearing loss of 25 dB or more. Patients reporting increased television volume had a mean hearing loss of 35 dB. Increased television volume had a sensitivity of 81 per cent and a specificity of 52 per cent as a predictor of hearing loss. Patients who increased their television volume to watch news programmes had an average hearing loss of 41 dB; increased television volume for news programmes had a sensitivity of 75 per cent and a specificity of 71 per cent as a predictor of hearing loss.Conclusions:Television volume is a useful marker of hearing loss in situations where audiometry is unavailable, for instance in a primary care setting. However, it is not a very specific test.

Promontory osteoma mimicking otosclerosis: case report

2019 ◽  
Vol 133 (12) ◽  
pp. 1107-1109
Author(s):  
S Gülşen
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Middle Ear ◽  
Pure Tone ◽  
Conductive Hearing Loss ◽  
Pure Tone Audiometry ◽  
Additional Treatment ◽  
Recent Onset ◽  
History Of ◽  
Conductive Hearing

AbstractObjectiveThis case report presents a middle-ear osteoma mimicking otosclerosis that was located at the promontory. The osteoma was successfully excised using an endoscopic transcanal approach without any complication.Case reportA 21-year-old man presented with a 4-year history of progressive conductive hearing loss (47 dB with a 30-dB air–bone gap) with intermittent tinnitus of recent onset in his right ear. Endoscopic transcanal middle-ear exploration showed that an osteoma located on the promontory was restricting the mobility of the stapes by affecting the anterior crus of the stapes. After transcanal resection of the osteoma, pure tone audiometry improved to 23 dB with a 5-dB air–bone gap. Tinnitus resolved spontaneously without any additional treatment.ConclusionPromontory osteomas, a rare and usually asymptomatic clinical entity, should be taken into consideration in the differential diagnosis in patients with progressive conductive hearing loss and tinnitus with intact stapedial reflexes and normal otoscopic findings.

scholarly journals Hydrocodone Use and Sensorineural Hearing Loss

2007 ◽  
Vol 3;10 (5;3) ◽  
pp. 467-472
Author(s):  
Jeffrey T. Vrabec
Keyword(s):  
Hearing Loss ◽  
Hepatitis C ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Sensorineural Hearing ◽  
Hepatitis C Infection ◽  
Progressive Hearing Loss ◽  
Auditory Rehabilitation ◽  
History Of ◽  
Vestibular Symptoms

Background: The hydrocodone/acetaminophen combination is one of the most commonly used analgesic preparations. Isolated incidences of suspected association between hydrocodone abuse and rapidly progressive hearing loss have been reported. In this study, we describe the clinical characteristics of 5 patients presenting with progressive hearing loss and a history of hydrocodone use. Methods: Patients presenting with rapidly progressive bilateral hearing loss who had a documented history of hydrocodone use were selected for the study. The presentation, audiologic findings, associated comorbidities, and treatment outcomes were reviewed Results: All patients displayed rapidly progressive sensorineural hearing loss without vestibular symptoms. Hearing loss was asymmetric in 3 patients at initial presentation, but progressed to profound loss, usually within months. Steroid treatment has no effect on the progression of the hearing loss. The admitted quantity of hydrocodone consumed ranged from 10 to 300 mg per day. Hepatitis C was the most common comorbidity, present in 60% of the patients. All patients underwent cochlear implantation with satisfactory results. Conclusions: The chronic use of hydrocodone can be associated with progressive sensorineural hearing loss. Successful auditory rehabilitation can be achieved with cochlear implantation. Genetic polymorphisms of drug metabolizing enzymes as well as associated comorbidities such as hepatitis C infection may be significant in the development of hydrocodone ototoxicity, though additional investigations are necessary. Key words: hydrocodone, sensorineural hearing loss, cochlear implant

Traumatic perforation: determinants of conductive hearing loss

2017 ◽  
Vol 3 (3) ◽  
pp. 592
Author(s):  
Ravi K. S. ◽  
Ravishankar S. N.
Keyword(s):  
Hearing Loss ◽  
Tympanic Membrane ◽  
Conductive Hearing Loss ◽  
Previous History ◽  
Pure Tone Audiometry ◽  
Tympanic Membrane Perforation ◽  
Tertiary Center ◽  
Membrane Perforation ◽  
History Of ◽  
Conductive Hearing

<p class="abstract"><strong>Background:</strong> Traumatic perforations of the tympanic membrane are very common in day to day life and it may be due to direct or indirect source.  The aim of this study is to evaluate the various factors which determine the degree of hearing loss in patients with traumatic perforation of tympanic membrane<span lang="EN-IN">. </span></p><p class="abstract"><strong>Methods:</strong> A retrospective review was performed in 50 patients seen at the ENT department in our rural tertiary center over a period of two years between January 2015 to December 2016. The patients with history of ear trauma from various causes and with absolutely no previous history of any ear disease were included in our study. The data retrieved included parameters such as age, sex, side, cause of injury and presenting complaints such as hearing loss, earache, tinnitus, and vertigo. A detailed clinical and otoscopic examination was done to determine<span lang="EN-IN"> the size and location of the </span>perforation. Hearing was assessed using pure tone audiometry (PTA) to determine the degree of hearing loss and to correlate with frequency, size and location of perforation<span lang="EN-IN">.  </span></p><p class="abstract"><strong>Results:</strong> A total of 50 patients with traumatic perforations of the tympanic membrane were enrolled for the study, comprising of 32 males and 18 females patients. Age of the patients ranged from12 to 65 years of age. The results showed that the most common mode of trauma was RTA (46%). Audiometry shows that the larger the tympanic membrane perforation, the larger the air–bone gap. Hearing loss was highest at the lowest frequencies and generally decreased as the frequency increased. The results also showed that there was no difference in air bone gap with relation to location of perforation (anterior vs. posterior)<span lang="EN-IN">. </span></p><p class="abstract"><strong>Conclusions:</strong> The conductive hearing loss resulting from a tympanic membrane perforation is frequency dependent, with the largest losses occurring at the lowest sound frequencies, hearing loss increases as size of the perforation increases and no relation with location of perforation<span lang="EN-IN">.</span></p>

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