Publications by authors named "Mahsa Sepehrnejad"

3 Publications

  • Page 1 of 1

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

BMC Med Genet 2020 06 9;21(1):127. Epub 2020 Jun 9.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome sequencing (WES) was applied to investigate the underlying etiology of HL in an Iranian patient with ARNSHL.

Methods: A proband from an Iranian consanguineous family was examined via WES, following GJB2 sequencing. WES was utilized to find possible genetic etiology of the disease. Various Bioinformatics tools were used to assess the pathogenicity of the variants. Co-segregation analysis of the candidate variant was carried out. Interpretation of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines.

Results: WES results showed a novel frameshift (16 bp deletion) variant (p.Ala170Alafs*20) in the LRTOMT gene. This variant, which resides in exon 6, was found to be co-segregating in the family. It fulfils the criteria set by the ACMG guidelines of being pathogenic.

Conclusion: Here, we report successful application of WES to identify the molecular pathogenesis of ARNSHL, which is a genetically heterogeneous disorder, in a patient with ARNSHL.
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June 2020

Cigarette smoking effect on human cochlea responses.

Adv Biomed Res 2015 27;4:148. Epub 2015 Jul 27.

Department of Audiology, School of Rehabilitation Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Smoking is one of the most important risk factor in increasing of non-communicable disorders, especially chronic diseases such as cancer, stroke, heart and respiratory diseases. Cigarette smoking could damage the cochlea and causing hearing loss. The otoacoustic emission (OAE) is a source of information for determining cochlear responses to sound stimuli and how to change the response of the auditory system in some diseases. OAE test was sensitive to outer hair cells (OHCs) activity.

Materials And Methods: In this study, tried to evaluate a hearing threshold of the smoker group versus non-smoker ones through pure tone audiometery, transient evoked otoacoustic emission (TEOAE) and distortion product otoacoustic emission (DPOAE) tests.

Results: The results indicated that significant decrement of 8000 Hz threshold, reduced DPOAE/TEOAE amplitude in the smoker group than non-smoker one (P < 0.05). DPOAE amplitudes decline reflects the cochlear damage caused by smoking.

Conclusion: OAEs test was clinically non-invasive, accurate, and objective evaluation of the performance of cochlear OHCs.
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September 2015

Ear surgery techniques results on hearing threshold improvement.

J Res Med Sci 2013 Sep;18(9):746-9

Department of Otorhinolaryngology, Head and Neck surgery, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Bone conduction (BC) threshold depression is not always by means of sensory neural hearing loss and sometimes it is an artifact caused by middle ear pathologies and ossicular chain problems. In this research, the influences of ear surgeries on bone conduction were evaluated.

Materials And Methods: This study was conducted as a clinical trial study. The ear surgery performed on 83 patients classified in four categories: Stapedectomy, tympanomastoid surgery and ossicular reconstruction partially or totally; Partial Ossicular Replacement Prosthesis (PORP) and Total Ossicular Replacement Prosthesis (TORP). Bone conduction thresholds assessed in frequencies of 250, 500, 1000, 2000 and 4000 Hz pre and post the surgery.

Results: In stapedectomy group, the average of BC threshold in all frequencies improved approximately 6 dB in frequency of 2000 Hz. In tympanomastoid group, BC threshold in the frequency of 500, 1000 and 2000 Hz changed 4 dB (P-value < 0.05). Moreover, In the PORP group, 5 dB enhancement was seen in 1000 and 2000 Hz. In TORP group, the results confirmed that BC threshold improved in all frequencies especially at 4000 Hz about 6.5 dB.

Conclusion: In according to results of this study, BC threshold shift was seen after several ear surgeries such as stapedectomy, tympanoplasty, PORP and TORP. The average of BC improvement was approximately 5 dB. It must be considered that BC depression might happen because of ossicular chain problems. Therefore; by resolving middle ear pathologies, the better BC threshold was obtained, the less hearing problems would be faced.
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September 2013