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Τετάρτη 2 Μαΐου 2018
Predicting Sequential Cochlear Implantation Performance: A Systematic Review
Audiol Neurotol 2017;22:356–363
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ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
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ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Hum Genet. 2018 Apr 30;:
Authors: Li W, Sun J, Ling J, Li J, He C, Liu Y, Chen H, Men M, Niu Z, Deng Y, Li M, Li T, Wen J, Sang S, Li H, Wan Z, Richard EM, Chapagain P, Yan D, Liu XZ, Mei L, Feng Y
Abstract
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were analyzed by whole exome capture sequencing. To assess the functional effect of the identified variant, in-vitro studies were performed. novel missense variant, c.512A>G (p.His171Arg) in exon 8 of the ELMO domain-containing 3 (ELMOD3) gene, was identified as a causative variant in this family affected by late-onset and progressive ADNSHL. The variant was validated by Sanger sequencing and found to co-segregate with the phenotype within the pedigree and was absent in 500 ethnically matched unrelated normal hearing control subjects. To our knowledge, this is the first report of a family with ADNSHL caused by ELMOD3 mutation. Western blots and immunofluorescence staining demonstrated that p.His171Arg resulted in abnormal expression levels of ELMOD3 and abnormal subcellular localization. Furthermore, the analysis of the stability of the wild-type (WT) and mutant ELMOD3 protein shows that the decay of p.His171Arg is faster than that of the WT, suggesting a shorter halflife of the c.512A > G variant. A novel variant in the ELMOD3 gene, encoding a member of the engulfment and cell motility (ELMO) family of GTPase-activating proteins, was identified for the first time as responsible for ADNSHL.
PMID: 29713870 [PubMed - as supplied by publisher]
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Association Between Hearing Aid Use and Health Care Use and Cost Among Older Adults With Hearing Loss.
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Association Between Hearing Aid Use and Health Care Use and Cost Among Older Adults With Hearing Loss.
JAMA Otolaryngol Head Neck Surg. 2018 Apr 26;:
Authors: Mahmoudi E, Zazove P, Meade M, McKee MM
Abstract
Importance: Hearing loss (HL) is common among older adults and is associated with poorer health and impeded communication. Hearing aids (HAs), while helpful in addressing some of the outcomes of HL, are not covered by Medicare.
Objective: To determine whether HA use is associated with health care costs and utilization in older adults.
Design, Setting, and Participants: This retrospective cohort study used nationally representative 2013-2014 Medical Expenditure Panel Survey data to evaluate the use of HAs among 1336 adults aged 65 years or older with HL. An inverse propensity score weighting was applied to adjust for potential selection bias between older adults with and without HAs, all of whom reported having HL. The mean treatment outcomes of HA use on health care utilization and costs were estimated.
Exposures: Encounter with the US health care system.
Main Outcomes and Measures: (1) Total health care, Medicare, and out-of-pocket spending; (2) any emergency department (ED), inpatient, and office visit; and (3) number of ED visits, nights in hospital, and office visits.
Results: Of the 1336 individuals included in the study, 574 (43.0%) were women; mean (SD) age was 77 (7) years. Adults without HAs (n = 734) were less educated, had lower income, and were more likely to be from minority subpopulations. The mean treatment outcomes of using HAs per participant were (1) higher total annual health care spending by $1125 (95% CI, $1114 to $1137) and higher out-of-pocket spending by $325 (95% CI, $322 to $326) but lower Medicare spending by $71 (95% CI, -$81 to -$62); (2) lower probability of any ED visit by 2 percentage points (PPs) (24% vs 26%; 95% CI, -2% to -2%) and lower probability of any hospitalization by 2 PPs (20% vs 22%; 95% CI, -3% to -1%) but higher probability of any office visit by 4 PPs (96% vs 92%; 95% CI, 4% to 4%); and (3) 1.40 more office visits (95% CI, 1.39 to 1.41) but 0.46 (5%) fewer number of hospital nights (95% CI, -0.47 to -0.44), with no association with the number of ED visits, if any (95% CI, 0.01 to 0).
Conclusions and Relevance: This study demonstrates the beneficial outcomes of use of HAs in reducing the probability of any ED visits and any hospitalizations and in reducing the number of nights in the hospital. Although use of HAs reduced total Medicare costs, it significantly increased total and out-of-pocket health care spending. This information may have implications for Medicare regarding covering HAs for patients with HL.
PMID: 29710214 [PubMed - as supplied by publisher]
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Breaking the sound barrier: exploring parents' decision-making process of cochlear implants for their children.
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Breaking the sound barrier: exploring parents' decision-making process of cochlear implants for their children.
Patient Educ Couns. 2017 Aug;100(8):1544-1551
Authors: Chang PF
Abstract
OBJECTIVE: To understand the dynamic experiences of parents undergoing the decision-making process regarding cochlear implants for their child(ren).
METHODS: Thirty-three parents of d/Deaf children participated in semi-structured interviews. Interviews were digitally recorded, transcribed, and coded using iterative and thematic coding.
RESULTS: The results from this study reveal four salient topics related to parents' decision-making process regarding cochlear implantation: 1) factors parents considered when making the decision to get the cochlear implant for their child (e.g., desire to acculturate child into one community), 2) the extent to which parents' communities influence their decision-making (e.g., norms), 3) information sources parents seek and value when decision-making (e.g., parents value other parent's experiences the most compared to medical or online sources), and 4) personal experiences with stigma affecting their decision to not get the cochlear implant for their child.
CONCLUSION: This study provides insights into values and perspectives that can be utilized to improve informed decision-making, when making risky medical decisions with long-term implications.
PRACTICAL IMPLICATIONS: With thorough information provisions, delineation of addressing parents' concerns and encompassing all aspects of the decision (i.e., medical, social and cultural), health professional teams could reduce the uncertainty and anxiety for parents in this decision-making process for cochlear implantation.
PMID: 28291575 [PubMed - indexed for MEDLINE]
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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.
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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.
Case Rep Neurol Med. 2018;2018:5802650
Authors: Lance S, Mossman S, Poke G
Abstract
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.
PMID: 29713557 [PubMed]
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Berberine exerts antioxidant effects via protection of spiral ganglion cells against cytomegalovirus-induced apoptosis.
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Berberine exerts antioxidant effects via protection of spiral ganglion cells against cytomegalovirus-induced apoptosis.
Free Radic Biol Med. 2018 Apr 28;:
Authors: Zhuang W, Li T, Wang C, Shi X, Li Y, Zhang S, Zhao Z, Dong H, Qiao Y
Abstract
Cytomegalovirus (CMV) is the leading cause of sensorineural hearing loss (SNHL) in children because of its damage to the cochlea and spiral ganglion cells. Therefore, it has become a top priority to devise new methods to effectively protect spiral ganglion cells from damage. Berberine (BBR) has gained attention for its vast beneficial biological effects through immunomodulation, and its anti-inflammatory and anti-apoptosis properties. However, the effect of BBR on spiral ganglion cells and molecular mechanisms are still unclear. This study aims to investigate whether BBR has an anti-apoptosis effect in CMV-induced apoptosis in cultured spiral ganglion cells and explore the possible mechanism. In this study, TUNEL and MTT assays significantly demonstrated that low doses of BBR did not promote cell apoptosis and they also inhibited the CMV-induced cultured spiral ganglion cell apoptosis. Immunofluorescence and Western blot assays indicated that the anti-apoptosis effect of BBR was related to Nox3. Mitochondrial calcium and Western blot assays revealed that NMDAR1 mediated this anti-apoptosis effect. Our results demonstrated that BBR exerted an anti-apoptosis effect against CMV in cultured spiral ganglion cells, and the mechanism is related to NMDAR1/Nox3-mediated mitochondrial reactive oxygen species (ROS) generation.
PMID: 29715550 [PubMed - as supplied by publisher]
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Berberine exerts antioxidant effects via protection of spiral ganglion cells against cytomegalovirus-induced apoptosis.
| Related Articles |
Berberine exerts antioxidant effects via protection of spiral ganglion cells against cytomegalovirus-induced apoptosis.
Free Radic Biol Med. 2018 Apr 28;:
Authors: Zhuang W, Li T, Wang C, Shi X, Li Y, Zhang S, Zhao Z, Dong H, Qiao Y
Abstract
Cytomegalovirus (CMV) is the leading cause of sensorineural hearing loss (SNHL) in children because of its damage to the cochlea and spiral ganglion cells. Therefore, it has become a top priority to devise new methods to effectively protect spiral ganglion cells from damage. Berberine (BBR) has gained attention for its vast beneficial biological effects through immunomodulation, and its anti-inflammatory and anti-apoptosis properties. However, the effect of BBR on spiral ganglion cells and molecular mechanisms are still unclear. This study aims to investigate whether BBR has an anti-apoptosis effect in CMV-induced apoptosis in cultured spiral ganglion cells and explore the possible mechanism. In this study, TUNEL and MTT assays significantly demonstrated that low doses of BBR did not promote cell apoptosis and they also inhibited the CMV-induced cultured spiral ganglion cell apoptosis. Immunofluorescence and Western blot assays indicated that the anti-apoptosis effect of BBR was related to Nox3. Mitochondrial calcium and Western blot assays revealed that NMDAR1 mediated this anti-apoptosis effect. Our results demonstrated that BBR exerted an anti-apoptosis effect against CMV in cultured spiral ganglion cells, and the mechanism is related to NMDAR1/Nox3-mediated mitochondrial reactive oxygen species (ROS) generation.
PMID: 29715550 [PubMed - as supplied by publisher]
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