scholarly journals Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

2020 ◽  
Author(s):  
Meenakshi Lallar ◽  
Veronica Arora ◽  
Renu Saxena ◽  
Ratna Dua Puri ◽  
Ishwar Chander Verma
Keyword(s):  
Hearing Loss ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Gene Mutation ◽  
Genetic Counselling ◽  
The Family ◽  
Syndromic Hearing Loss ◽  
Inner Ear Anomaly

AbstractComplete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we report a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.

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 A Case of Perilymphatic Fistula with Inner Ear Anomaly Diagnosed Preoperatively by the Cochlin-Tomoprotein Detection Test

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Kana Lee ◽  
Naoki Ochi ◽  
Kohei Yamahara ◽  
Kunihiko Makino ◽  
Tetsuo Ikezono
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Course ◽  
Sudden Hearing Loss ◽  
Sensorineural Hearing ◽  
Fistula Repair ◽  
Perilymphatic Fistula ◽  
Ear Anomalies ◽  
Inner Ear Anomaly

We present a case of perilymphatic fistula (PLF) with inner ear anomalies having sudden, progressive sensorineural hearing loss and describe the fistula repair surgeries. We focus on the diagnosis methods of PLF and clinical course of PLF with inner ear anomaly. The cochlin-tomoprotein (CTP) detection test is very useful for the surgeons to encourage the earlier operation to sudden hearing loss cases. It is also helpful to define the diagnosis of PLF after operation. We could not get the good result as to hearing from the fistula repair surgery mainly because surgery was held 1 month after the onset. The results of the case, as well as recommendations of other reports, suggest that patients with sudden sensorineural hearing loss and PLF may need repair surgery within at most 2 weeks from the onset. We describe how to diagnose PLF more accurately using CTP detection combined with intraoperative findings.

Sudden Sensorineural Hearing Loss Associated with Inner Ear Anomaly

2005 ◽  
Vol 26 (2) ◽  
pp. 241-246 ◽  
Author(s):  
Makoto Sugiura ◽  
Tsutomu Nakashima ◽  
Shinji Naganawa ◽  
Yasutaka Otake ◽  
Toru Mukaida ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Inner Ear Anomaly

scholarly journals Genetics of Inner Ear Malformations: A Review

2021 ◽  
Vol 11 (4) ◽  
pp. 524-536
Author(s):  
Davide Brotto ◽  
Flavia Sorrentino ◽  
Roberta Cenedese ◽  
Irene Avato ◽  
Roberto Bovo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
18Th Century ◽  
Sensorineural Hearing ◽  
Genetic Mutations ◽  
Inner Ear Malformations ◽  
Ear Malformations ◽  
Inner Ear Anomaly ◽  
First Descriptions

Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations.

Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss

2017 ◽  
Vol 131 (8) ◽  
pp. 688-695 ◽  
Author(s):  
M Gruber ◽  
C Brown ◽  
M Mahadevan ◽  
M Neeff
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
High Rate ◽  
Homozygous Mutation ◽  
Imaging Findings ◽  
Genetic Abnormality ◽  
Syndromic Hearing Loss ◽  
Heterozygous Carriers

AbstractObjective:To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss.Methods:A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution.Results:Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing.Conclusion:Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

Drug Delivery to the Inner Ear: Strategies and Their Therapeutic Implications for Sensorineural Hearing Loss

2012 ◽  
Vol 9 (3) ◽  
pp. 231-242 ◽  
Author(s):  
Teresa Rivera ◽  
Lorena Sanz ◽  
Guadalupe Camarero ◽  
Isabel Varela-Nieto
Keyword(s):  
Drug Delivery ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sensorineural Hearing ◽  
Therapeutic Implications

scholarly journals Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos

2021 ◽  
Vol 22 (12) ◽  
pp. 6497
Author(s):  
Anna Ghilardi ◽  
Alberto Diana ◽  
Renato Bacchetta ◽  
Nadia Santo ◽  
Miriam Ascagni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Hair Cells ◽  
Muscle Fibers ◽  
Underlying Mechanism ◽  
Loss Of Function ◽  
Zebrafish Model ◽  
Developmental Defects ◽  
Inner Ear Development ◽  
Syndromic Hearing Loss

The last decade has witnessed the identification of several families affected by hereditary non-syndromic hearing loss (NSHL) caused by mutations in the SMPX gene and the loss of function has been suggested as the underlying mechanism. In the attempt to confirm this hypothesis we generated an Smpx-deficient zebrafish model, pointing out its crucial role in proper inner ear development. Indeed, a marked decrease in the number of kinocilia together with structural alterations of the stereocilia and the kinocilium itself in the hair cells of the inner ear were observed. We also report the impairment of the mechanotransduction by the hair cells, making SMPX a potential key player in the construction of the machinery necessary for sound detection. This wealth of evidence provides the first possible explanation for hearing loss in SMPX-mutated patients. Additionally, we observed a clear muscular phenotype consisting of the defective organization and functioning of muscle fibers, strongly suggesting a potential role for the protein in the development of muscle fibers. This piece of evidence highlights the need for more in-depth analyses in search for possible correlations between SMPX mutations and muscular disorders in humans, thus potentially turning this non-syndromic hearing loss-associated gene into the genetic cause of dysfunctions characterized by more than one symptom, making SMPX a novel syndromic gene.

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