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1.
Otol Neurotol ; 44(10): e715-e721, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37758320

RESUMO

OBJECTIVE: Parents often experience uncertainty during decision-making for their child's cochlear implantation (CI) surgery, and online forums provide insight on parental opinions that might not be expressed in clinic. This study aims to evaluate parental perspectives and concerns about pediatric CI using social media analysis. STUDY DESIGN: Qualitative study. SETTING: Three online forums involving parental posts about pediatric CI. INTERVENTION/METHODS: Forums were queried using keywords (e.g., "cochlear implant") to gather all U.S. parent-initiated posts about pediatric CI from 2006 to 2021. Thematic content analysis was performed to classify posts by overarching domain, themes, and subthemes. Posts were reviewed for thematic synthesis and double coded. Descriptive statistics were calculated for each theme by unique users. RESULTS: A total of 79 posts by 41 unique users were analyzed. Themes relating to decision for CI included facilitators, inhibitors, resources, and feelings. Parents posted about lack of benefit from hearing aids promoting decision for CI and high cost as an inhibitor. Some expressed concern about making a major decision for a minor. Parents often mentioned their child's healthcare providers and social media as resources. CONCLUSION: Through social media posts, parental priorities and concerns for decision-making of CI surgery were identified. Findings may guide discussions between physicians and parents and facilitate shared decision-making about CI.


Assuntos
Implante Coclear , Implantes Cocleares , Mídias Sociais , Humanos , Criança , Pais , Pesquisa Qualitativa
2.
Laryngoscope ; 130(7): 1657-1663, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31593348

RESUMO

OBJECTIVES/HYPOTHESIS: P2RX2 encoding P2X purinoreceptor 2 has been identified as the gene responsible for autosomal dominant deafness-41 (DFNA41) as well as mediating vulnerability to noise-induced hearing loss (NIHL). The objective of this study was to investigate the audiological and molecular characteristics of P2RX2-related deafness, with emphasis on its role in NIHL by determining the audiological characteristics of a previously reported six-generation DFNA41 family with a 10-year follow-up. We have also summarized phenotype-genotype correlations of P2RX2-related deafness in human and mouse models. STUDY DESIGN: We describe clinical longitudinal follow-up in the DFNA41 family with P2RX2 (p.Val60Leu) mutation and perform a systematic literature search in PubMed and poster presentations on meeting/conference websites to identify current insights into P2RX2-mediated NIHL. METHODS: Clinical and physical examinations of the family members were performed, and audiograms were obtained to assess the hearing thresholds. Clinical follow-up features in this DFNA41 family are presented along with correlation analyses of phenotype-genotype in all reported families with P2RX2-related deafness. RESULTS: Progressive hearing impairment was confirmed by history and by audiological follow-up testing in all the patients. The onset of hearing loss was between age 25 and 35 years. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences. CONCLUSIONS: Our study and the review of the literature suggest that P2RX2 plays a crucial role in predisposition to noise-induced and age-related hearing loss. A better knowledge about the P2RX2-associated genetic variants can help in developing novel therapeutic strategies. LEVEL OF EVIDENCE: 2b Laryngoscope, 130:1657-1663, 2020.


Assuntos
Perda Auditiva Neurossensorial/genética , Receptores Purinérgicos P2X2/genética , Adulto , Progressão da Doença , Feminino , Seguimentos , Genótipo , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo , Fatores Sexuais
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