“In a world where emoji’s are beginning to replace words and expressions — conveying a message to someone has taken on a new meaning. Public settings have become a little less chatty and it’s not uncommon to find rows of people in the bent-neck, plugged-in posture. Very little human-to-human communication, no eye-contact, minimal speech.”
“In a world where emoji’s are beginning to replace words and expressions — conveying a message to someone has taken on a new meaning. Public settings have become a little less chatty and it’s not uncommon to find rows of people in the bent-neck, plugged-in posture. Very little human-to-human communication, no eye-contact, minimal speech.”
“In a world where emoji’s are beginning to replace words and expressions — conveying a message to someone has taken on a new meaning. Public settings have become a little less chatty and it’s not uncommon to find rows of people in the bent-neck, plugged-in posture. Very little human-to-human communication, no eye-contact, minimal speech.”
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Analysis of p.V37I compound heterozygous mutations in the GJB2 gene in Chinese infants and young children.
Biosci Trends. 2016 Jun 27;
Authors: Du Y, Huang L, Cheng X, Zhao L, Ruan Y, Ni T
Abstract
The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. The present study investigated the prevalence of p.V37I in Chinese infants and young children and associated clinical characteristics. The subjects of the present study were screened for mutations in GJB2 (235delC, 299delAT, 176dell6, 35delG), SLC26A4 (IVS7-2A>G, 2168A>G), GJB3 (538C>T), and in the mitochondrial 12S rRNA gene (1555A>G, 1494C>T). Subjects with p.V37I underwent an audiological evaluation. GJB2 exon sequencing revealed that 20 subjects had p.V37I compound heterozygous mutations, one of whom had a family history; the mutations included c.235delC/p.V37I (n = 12), c.299AT/p.V37I (n = 7), and c.176del16/p.V37I (n = 1). Of the 20 subjects, 12 were referred for Universal Newborn Hearing Screening (UNHS). Nine of the 20 subjects had mild hearing loss in the better ear and 5 had moderate hearing loss in the better ear while 4 had normal hearing. Among subjects with the c.235delC/p.V37I mutation, 5 had mild hearing loss and 2 had moderate hearing loss while 3 had normal hearing. Among subjects with the c.299AT/p.V37I mutation, 3 had mld hearing loss and 3 had moderate hearing loss while 1 had normal hearing. One subject with the c.176del16/p.V37I mutation had mild hearing loss. Few studies have reported on the clinical characteristics of Chinese infants with p.V37I compound heterozygous mutations identified via screening for deafness genes and GJB2 sequencing. The c.235delC/p.V37I mutation was the most prevalent mutation found in subjects. The degree of hearing loss associated with p.V37I compound heterozygous mutations was mainly mild to moderate.
PMID: 27350192 [PubMed - as supplied by publisher]
The Hearing Loss Association of America (HLAA) kicked off its 2016 National Convention in Washington, DC with a plenary session on recent groundbreaking reports issued by the National Academies of Sciences, Engineering, and Medicine (the Academies) and the President's Council of Advisors on Science and Technology Policy (PCAST).
More than 1,200 people attended the convention, which was also a joint event with The International Federation of Hard of Hearing People (IFHOH). Leading the plenary session was the Academies' Committee Chairperson Dr. Dan G. Blazer, who gave a comprehensive account of their findings and recommendations on hearing health care affordability and accessibility.
"Our goal was to say, 'People who are purchasing services, including purchases for hearing aid, need to know what they're paying for,' and that's the bottom line," said Dr. Blazer on the recommendation to unbundle audiologist and hearing aid charges.
"What we love about this report is that the person with hearing loss is front and center, and it really makes hearing loss a primary health concern – and that's what we've been talking about for a long time," HLAA Executive Director Barbara Kelley told The Hearing Journal. "Now we have a report that is evidence-based to back us up and we are really happy about that."
Dr. Susan Graham discussed the implications of the PCAST report, including the recommendation to modify FDA guidelines to allow over-the-counter "basic" hearing aid sale.
"Within the FDA, they have a lot of differing opinions about these issues – just as the audiology community has a lot of different opinions," Dr. Graham said. "But having the public speak up is always helpful."
Much of the PCAST report recommendations were sounded off in the Academies report.
"I think it's rather amazing that two very independent groups came to very similar conclusions," Dr. Blazer said. "These reports have the potential to have the legs to move if there is willingness to work together."
"There are oppositions from audiologists who are afraid of change in the business model and afraid they will lose their patients," Dr Graham told The Hearing Journal. "But they will have to change."
The two reports also stressed the importance of boosting access to hearing aid technology and personal sound amplification products.
"Our convention goers are people who want to learn about technology. They want to use amplification. They are motivated. They want to stay in the hearing world and they will do anything to help themselves hear well," explained Director Kelley. "We want to educate everybody and we hope to be able to take the lead in seeing that these recommendations be implemented."
The Hearing Loss Association of America (HLAA) kicked off its 2016 National Convention in Washington, DC with a plenary session on recent groundbreaking reports issued by the National Academies of Sciences, Engineering, and Medicine (the Academies) and the President's Council of Advisors on Science and Technology Policy (PCAST).
More than 1,200 people attended the convention, which was also a joint event with The International Federation of Hard of Hearing People (IFHOH). Leading the plenary session was the Academies' Committee Chairperson Dr. Dan G. Blazer, who gave a comprehensive account of their findings and recommendations on hearing health care affordability and accessibility.
"Our goal was to say, 'People who are purchasing services, including purchases for hearing aid, need to know what they're paying for,' and that's the bottom line," said Dr. Blazer on the recommendation to unbundle audiologist and hearing aid charges.
"What we love about this report is that the person with hearing loss is front and center, and it really makes hearing loss a primary health concern – and that's what we've been talking about for a long time," HLAA Executive Director Barbara Kelley told The Hearing Journal. "Now we have a report that is evidence-based to back us up and we are really happy about that."
Dr. Susan Graham discussed the implications of the PCAST report, including the recommendation to modify FDA guidelines to allow over-the-counter "basic" hearing aid sale.
"Within the FDA, they have a lot of differing opinions about these issues – just as the audiology community has a lot of different opinions," Dr. Graham said. "But having the public speak up is always helpful."
Much of the PCAST report recommendations were sounded off in the Academies report.
"I think it's rather amazing that two very independent groups came to very similar conclusions," Dr. Blazer said. "These reports have the potential to have the legs to move if there is willingness to work together."
"There are oppositions from audiologists who are afraid of change in the business model and afraid they will lose their patients," Dr Graham told The Hearing Journal. "But they will have to change."
The two reports also stressed the importance of boosting access to hearing aid technology and personal sound amplification products.
"Our convention goers are people who want to learn about technology. They want to use amplification. They are motivated. They want to stay in the hearing world and they will do anything to help themselves hear well," explained Director Kelley. "We want to educate everybody and we hope to be able to take the lead in seeing that these recommendations be implemented."
The Hearing Loss Association of America (HLAA) kicked off its 2016 National Convention in Washington, DC with a plenary session on recent groundbreaking reports issued by the National Academies of Sciences, Engineering, and Medicine (the Academies) and the President's Council of Advisors on Science and Technology Policy (PCAST).
More than 1,200 people attended the convention, which was also a joint event with The International Federation of Hard of Hearing People (IFHOH). Leading the plenary session was the Academies' Committee Chairperson Dr. Dan G. Blazer, who gave a comprehensive account of their findings and recommendations on hearing health care affordability and accessibility.
"Our goal was to say, 'People who are purchasing services, including purchases for hearing aid, need to know what they're paying for,' and that's the bottom line," said Dr. Blazer on the recommendation to unbundle audiologist and hearing aid charges.
"What we love about this report is that the person with hearing loss is front and center, and it really makes hearing loss a primary health concern – and that's what we've been talking about for a long time," HLAA Executive Director Barbara Kelley told The Hearing Journal. "Now we have a report that is evidence-based to back us up and we are really happy about that."
Dr. Susan Graham discussed the implications of the PCAST report, including the recommendation to modify FDA guidelines to allow over-the-counter "basic" hearing aid sale.
"Within the FDA, they have a lot of differing opinions about these issues – just as the audiology community has a lot of different opinions," Dr. Graham said. "But having the public speak up is always helpful."
Much of the PCAST report recommendations were sounded off in the Academies report.
"I think it's rather amazing that two very independent groups came to very similar conclusions," Dr. Blazer said. "These reports have the potential to have the legs to move if there is willingness to work together."
"There are oppositions from audiologists who are afraid of change in the business model and afraid they will lose their patients," Dr Graham told The Hearing Journal. "But they will have to change."
The two reports also stressed the importance of boosting access to hearing aid technology and personal sound amplification products.
"Our convention goers are people who want to learn about technology. They want to use amplification. They are motivated. They want to stay in the hearing world and they will do anything to help themselves hear well," explained Director Kelley. "We want to educate everybody and we hope to be able to take the lead in seeing that these recommendations be implemented."
