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.
Jun 26, 2018. . Sponsored by Arizona Commission for the Deaf and the Hard of Hearing, Arizona Telemedicine Program, Southwest Telehealth Resource Center
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DFNB1, the first locus to have been associated with deafness, has two major genes GJB2&GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present stu...
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In a recent paper, Matsushima et al. reported about a 2 years and 6 months-old male who developed non-syndromic, progressive impaired hearing by the age of 9 months . The family history was positive for hypoacusis in the father, mother, one maternal and paternal uncle each, maternal grandmother and grandfather, maternal grand uncle, and maternal great-grandmother . Hearing impairment in the index case was attributed to the variant m.7445A>G variant outside the tRNA (Ser) gene . The index case had also inherited the variant c.235delC in the GJB2 gene from his father .
We would like to thank Dr. Josef Finsterer and Dr. Zarrouk-Mahjoub for their insightful and constructive comments on our study . At first, m.7445A>G heteroplasmy rates reported by Tranah et al. was based on the analysis on platelets  and our study was based on the analysis on whole blood cells. Thus, the heteroplasmy rates of the two studies cannot be compared because heteroplasmy rates are various in various organs in cases with mitochondrial diseases [3,4].
This article presents the various aspects of HIV/AIDS care for deaf people in Burundi to assess social inequalities in health especially the access to preventive care. Our work is particularly focused on identifying the factors that hinder the access of deaf people to HIV/AIDS care in developing countries such as Burundi. The study is based on a literature review and a qualitative study with stakeholders and beneficiaries. The literature review was conducted on reports or other official documents that were made by various stakeholders involved in the fight against HIV/AIDS. A qualitative approach was made of interviews wit...
Abstract Very little is known about people's ability to localize sound under varying workload conditions, though it would be expected that increasing workload should degrade performance. A set of eight auditory clinical alarms already known to have relatively high localizability (the ease with which their location is identified) when tested alone were tested in six conditions where workload was varied. Participants were required to indicate the location of a series of alarms emanating at random from one of eight speaker locations. Additionally, they were asked to read, carry out mental arithmetic tasks, be exposed...
Consanguinity rate is high in Algeria, and the population is thus at high risk for genetic diseases transmitted on an autosomal recessive mode. Inherited congenital hearing impairment (HI) is a highly heterogeneous disorder, which affects approximately 1 in 800 Algerian newborns. Several hundreds of genes responsible for deafness have been reported among which more than one hundred are responsible for isolated deafness, of which 19 have already been reported to be involved in the Algerian population.
Conclusions: We present the largest series of patients with scala vestibuli cochlear implantation. This approach provides at least comparable auditory performances without having any deleterious effects on programming parameters. This viable and useful insertion route might be the primary surgical alternative when facing partial cochlear ossification.