A Study of Effect of Consanguinity on Cochlear Morphology in Patients with Congenital Bilateral Profound Sensorineural Hearing Loss

This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted. Seven children born out of consanguineous marriages and having bilateral congenital sensorineural hearing loss were imaged for their inner ears by MRI and various cochlear measurements were compared with that of seven control children born out of non-consanguineous marriages and who had congenital bilateral sensorineural hearing deafness. No statistically significant differences were noticed in the measurements of mean cochlear length, cross sectional diameter of cochlea at apex, middle turn and at basal turns; between children born of consanguineous and non-consanguineous marriages. Study revealed normal cochlear morphology in all the children born out of consanguineous marriages. Consanguinity, as a risk factor for development of sensorineural hearing loss, may not result in gross structural anomaly of cochlea. The genetic testing of these patients need not be extensive and can be limited to selective screening of genes responsible for functioning of cochlea rather than its anatomical development.
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - Category: ENT & OMF Source Type: research

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Condition:   Hearing Loss Intervention:   Procedure: FNIRS Observational Sponsor:   University of Michigan Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Jones ML, Morris JT, Mueller JL, Lippincott B, Sweatman WM Abstract Accessibility of telecommunication technologies by people who are deaf or hard of hearing has been a critical issue since the invention of the telephone. As both telephone and hearing-aid technologies have evolved, finding compatible solutions has been an ongoing challenge. This paper uses the findings of a longitudinal study to examine the impact of Federal hearing-aid compatibility (HAC) regulations in resolving this problem. The study ran concurrently with the phase-in of Federal Communications Commission regulations requiring that mobi...
Source: Assistive Technology - Category: Rehabilitation Tags: Assist Technol Source Type: research
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Source: Sensors - Category: Biotechnology Authors: Tags: Article Source Type: research
Abstract Hearing loss is a common affection mainly resulting from irreversible loss of the sensory hair cells of the cochlea; therefore, developing therapies to replace missing hair cells is essential. Understanding the mechanisms that drive their formation will not only help to unravel the molecular basis of deafness, but also give a roadmap for recapitulating hair cells development from cultured pluripotent stem cells. In this review, we provide an overview of the molecular mechanisms involved in hair cell production from both human and mouse embryonic stem cells. We then provide insights how this knowledge has ...
Source: Cellular and Molecular Life Sciences : CMLS - Category: Cytology Authors: Tags: Cell Mol Life Sci Source Type: research
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Source: the Mail online | Health - Category: Consumer Health News Source Type: news
The objective of this report is to compare the characteristics of symptoms and differences in the therapeutic responses of them, who had the same mutation. In addition, we aimed to examine the usefulness of cytokine measurement for diagnosis or determination of treatment effect of CAPS. A 5-year-old Japanese boy (proband) came to our hospital because of short stature, reached the diagnosis of Muckle-Wells syndrome (MWS) due to a mutation inNLRP3 gene, which had not been reported so far (p.G328E, c.G983A). His mother and grandmother harbored the same mutation ofNLRP3. We measured serum concentrations of cytokines in the pro...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
In this study, we investigated the pathogenic mechanism of deafness-associated 7505A > G variant in the mitochondrial tRNASer(UCN). The m.7505A > G variant affected the highly conserved adenine at position 11 (A11), disrupted the highly conserved A11-U24 base-pairing of DHU stem of tRNASer(UCN) and introduced a tertiary base pairing (G11-C56) with the C56 in the TΨC loop. We therefore hypothesized that the m.7505A > G variant altered both structure and function of tRNASer(UCN). We demonstrated that the m.7505A > G variant perturbed the conformation and stability of tRNASer(UCN), as indicated...
Source: Mitochondrion - Category: Biochemistry Source Type: research
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Source: Cognitive Science - Category: Neuroscience Authors: Tags: Cogn Sci Source Type: research
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Source: Annales de Pathologie - Category: Pathology Authors: Tags: Ann Pathol Source Type: research
The International Journal of Health Planning and Management, EarlyView.
Source: The International Journal of Health Planning and Management - Category: Health Management Authors: Source Type: research
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