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1.
Arq. bras. oftalmol ; Arq. bras. oftalmol;88(2): e2023, 2025. graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1574018

RESUMEN

ABSTRACT We present the case of a 37-year-old woman who underwent bilateral penetrating keratoplasty for congenital hereditary endothelial dystrophy at the age of 10 years. Over the subsequent 27 years, the patient's vision slowly deteriorated. Our examination revealed decompensation of the right corneal graft. We addressed this with regraft surgery. We then learned that the patient had been suffering from progressive hearing loss since adolescence. Tonal audiometry revealed hearing per ceptive deafness of 25 dB, which was more prominent in the left ear. Because the patterns of progressive sensorineural hearing loss and congenital hereditary endothelial dystrophy have both been linked to the same gene, slc4a11, we tested our patient for mutations in this gene. The test was positive for a heterozygous slc4a11 gene fifth exon mutation on chromosome 20p13-p12, which causes a frameshift. A combined clinical and genetic evaluation confirmed a diagnosis of Harboyan syndrome. After the genetic diagnosis of the disease, she was evaluated for the need for a hearing aid due to her hearing loss. The patient was also informed about genetic counseling.

2.
Semina cienc. biol. saude ; 45(2): 133-144, jul./dez. 2024.
Artículo en Portugués | LILACS | ID: biblio-1568658

RESUMEN

A Saúde Única é uma crescente abordagem sistêmica para aumentar indissociavelmente os níveis de saúde das pessoas, dos animais e do ambiente no planeta. Por sua característica interdisciplinar e multidisciplinar, a Saúde Única tem arregimentado cada vez mais novos agentes na área de saúde, ampliando novas fronteiras de prática profissional. Objetivo: tendo em vista de que a abordagem sistêmica da Saúde Única (One Health) é holística, objetivou-se descrever e refletir sobre o papel da fonoaudiologia nesse contexto. Métodos: fez-se uma revisão de escopo sobre as ligações da fonoaudiologia com as desordens de saúde que são o foco em Saúde Única. Realizou-se uma procura de artigos nas plataformas PubMed e SciELO, com a combinação booleana dos indexadores "fonoaudiologia" e "Saúde Única", em idioma português; e as palavras "speech-language therapy" e "One Health" em idioma inglês. O operador booleano foi "E" e "AND". Adicionalmente, procurou-se teses e dissertações com esses mesmos operadores e combinações no Catálogo de Teses e Dissertações da CAPES. Analisou-se os dados por uma abordagem qualitativa, por isso os métodos estatísticos não foram aplicados. A partir dessa abordagem, complementou-se a argumentação com uma reflexão crítica sobre a inclusão da fonoaudiologia na estratégia de Saúde Única. Resultados: apenas na plataforma SciELO encontrou-se cinco obras com os descritores e a combinação "Saúde Única AND fonoaudiologia"; esse resultado é fortemente sugestivo de que o profissional em fonoaudiologia não tem sido incluído como um agente na abordagem Saúde Única. Contrariando esse cenário, argumenta--se que a fonoaudiologia pode preencher um nicho de trabalho e atuação acadêmica na abordagem de Saúde Única, cujo foco são desordens de saúde que podem resultar em distúrbios da comunicação nas pessoas. Considerações finais: há um nicho para a fonoaudiologia na abordagem da Saúde Única para a prevenção, o tratamento e a investigação científica das desordens da comunicação humana.


One Health is a growing systemic approach aimed at increasing the health levels of people, animals and the environment on the planet. Due to its inter- and multidisciplinary characteristics, One Health has been recruiting an increasing number of new agents in the health area, expanding new frontiers of professional practice. Objective: considering that the systemic approach of One Health is holistic, the objective is to describe and reflect on the role of speech therapy in this context. Methods: a scoping review was conducted to explore the connections between speech therapy and the health disorders that are the focus of One Health. A search for articles was carried out on the PubMed and SciELO platforms, using the Boolean combination of the terms "fonoaudiologia" (speech therapy) and "Saúde Única" (One Health), in Portuguese; and the words "speech-language therapy" and "One Health" in English using the Boolean operator "E" and "AND". Additionally, we searched for theses and dissertations with these same operators and combinations, in the CAPES Catalog of Theses and Dissertations. The data was analyzed using a qualitative approach, therefore statistical methods were not applied. Based on this approach, the argument was complemented with a critical reflection on the inclusion of speech therapy in the One Health strategy. Results: five works were found on the SciELO platform using the descriptors and combination "Saúde Única AND fonoaudiologia". This result suggests that the speech therapy professional has not been included as an agent in the One Health approach. Contrary to this scenario, it is argued that speech therapy can play a significant professional and academic role in One Health, which focuses on health disorders that may result in communication disorders. Final considerations: there is a niche for speech therapy in the One Health approach to the prevention, treatment and scientific investigation of human communication disorders.


Asunto(s)
Humanos , Animales
3.
Braz J Otorhinolaryngol ; 91(1): 101509, 2024 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-39388826

RESUMEN

OBJECTIVES: To clarify the hearing outcomes after endoscopic type I tympanoplasty for medium and large perforations due to chronic otitis media. METHODS: We examined the clinical records of patients who underwent endoscopic type I tympanoplasty for medium and large perforations of the eardrum resulting from chronic otitis media between January 2019 and December 2021. We analyzed the changes in hearing pre- and post-operation in patients with healed eardrums and assessed the impact of tympanosclerosis on hearing. Patients with incomplete follow-up data, middle ear cholesteatoma, stapes fixation, severe lesions in the tympanic antrum and mastoid necessitating mastoidectomy and/or ossicular chain reconstruction were excluded. RESULTS: A total of 156 patients underwent analysis for audiological outcomes. Among them, 63 had medium tympanic membrane perforations, with 18 cases showing calcification of the tympanic membrane and 20 cases with calcification in the tympanic cavity. Additionally, 93 cases had large tympanic membrane perforations, with 25 cases showing tympanic membrane calcification and 32 cases with tympanic cavity calcification. Prior to surgery, the Air Conduction threshold (AC) in the large perforation group was higher than in the medium perforation group, particularly at low frequencies, measuring (47.4 ± 13.3 dB) and (41.2 ± 14.7 dB), respectively (p-value < 0.05). Following surgery, both groups experienced an improvement in AC, measuring (33.6 ± 13.9 dB) and (32.6 ± 12.8 dB), respectively, with no significant difference noted (p-value > 0.05). There was no significant change in Bone Conduction threshold (BC) before and after surgery in either the large or medium perforation groups (all p-values > 0.05). Except for 4000 Hz an increase, bone conduction did not increase post-surgery, instead showing further improved. Pre-surgery, the Air-Bone Gap (ABG) in the large and medium perforation groups was (27.7 ± 8.5 dB) and (21.8 ± 8.3 dB), respectively, mainly affecting low frequencies, with a statistically significant difference noted (p-value < 0.05). Following surgery, ABG in both groups improved to (16.3 ± 7.6 dB) and (15.7 ± 8.4 dB), respectively, with no significant difference observed (p-value > 0.05). There was no significant difference in hearing pre-surgery among the groups with No calcification (No), Tympanic Membrane Calcification (TM), and Tympanic Cavity Calcification (TC). However, TC significantly impacted low frequency (250-500 Hz) AC and ABG. The differences in AC and ABG pre-surgery between TC and No group, and TC and TM group (at 250-500 Hz) were statistically significant (all p-values < 0.05). Preoperative ABG in TM group was better than in No group and TC group, suggesting minimal impact of tympanic membrane calcification on hearing. No interaction was observed between tympanic membrane perforation size and tympanosclerosis on hearing. Post-surgery, both large and medium tympanic membrane perforation groups, regardless of tympanosclerosis presence, showed good AC and ABG, with no statistically significant difference in △ABG (all p-values > 0.05). CONCLUSION: Preoperative AC and ABG were increase in cases of large tympanic membrane perforations and medium tympanic membrane perforations with tympanic cavity calcification. Surgical intervention led to more significant hearing improvement in these patients. However, irrespective of tympanic membrane perforation size and the presence of tympanosclerosis, as long as the ossicular chain remains intact and functional, postoperative AC and ABG outcomes are satisfactory. Endoscopic type I tympanoplasty proves effective in achieving improved hearing outcomes for patients with medium to large tympanic membrane perforations and tympanosclerosis, provided there is no ossicle chain fixation. LEVEL OF EVIDENCE: Level 4.

4.
Braz J Otorhinolaryngol ; 91(1): 101513, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39378662

RESUMEN

OBJECTIVE: To analyze the correlation between caloric testing response patterns with respect to cochlear impairment in individuals with unilateral Ménière's disease. METHODS: In this observational cross-sectional study, the factor under study was Ménière's disease and the outcome was cochleovestibular function, evaluated through caloric stimulation using videonystagmography and four-frequency averages in pure tone audiometry. RESULTS: A total of 187 patients (equal sex distribution) who met the inclusion criteria were included. In impairment analysis of the affected ear, 17 patients had only vestibular impairment, 56 had only cochlear impairment, and 114 had cochleovestibular impairment. The distribution of Ménière's disease stages according to four-frequency average was grade I: 23.53%, grade II: 16.04%, grade III: 42.25%, and grade IV: 18.18%. There was a significant association (p < 0.001) between the affected ear and labyrinthine preponderance. The Spearman correlation between four-frequency average and labyrinth preponderance (r = 0.326) indicated a moderate correlation, considering p < 0.01. CONCLUSION: Our results show that the greater the cochlear damage due to Ménière's disease, the more impaired the vestibular function in the affected ear. LEVEL OF EVIDENCE: Level 2 - Individual cross-sectional studies with consistently applied reference standard and blinding.

5.
Braz J Otorhinolaryngol ; 91(1): 101514, 2024 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-39378663

RESUMEN

OBJECTIVE: To make evidence-based recommendations for the treatment of Single-Sided Deafness (SSD) in children and adults. METHODS: Task force members were instructed on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on SSD were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. RESULTS: The topics were divided into 3 parts: (1) Impact of SSD in children; (2) Impact of SSD in adults; and (3) SSD in patients with temporal bone tumors. CONCLUSIONS: Decision-making for patients with SSD is complex and multifactorial. The lack of consensus on the quality of outcomes and on which measurement tools to use hinders a proper comparison of different treatment options. Contralateral routing of signal hearing aids and bone conduction devices can alleviate the head shadow effect and improve sound awareness and signal-to-noise ratio in the affected ear. However, they cannot restore binaural hearing. Cochlear implants can restore binaural hearing, producing significant improvements in speech perception, spatial localization of sound, tinnitus control, and overall quality of life. However, cochlear implantation is not recommended in cases of cochlear nerve deficiency, a relatively common cause of congenital SSD.

6.
Int J Audiol ; : 1-11, 2024 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-39412061

RESUMEN

OBJECTIVE: We assessed the interaction between self-efficacy and joint problems and self-efficacy and visual problems on the risk of hearing aid abandonment in older adults. DESIGN: A retrospective cohort study comprising older adults who received hearing aids in Chile was conducted. Hearing aid self-efficacy was measured using the S-MARS-HA questionnaire, while joint and visual problems were assessed through self-reported questions. Survival regression models were conducted to investigate the interaction between self-efficacy and joint problems, as well as self-efficacy and visual problems. STUDY SAMPLE: The study included 355 older adults who received hearing aids through the Chilean public health sector. RESULTS: A significant interaction effect indicated that the relationship between self-efficacy and the risk abandonment was influenced by joint problems (p < 0.05). In the subpopulation with joint problems, self-efficacy was associated with a reduced risk of hearing aid abandonment (HR = 0.81), whereas in the subpopulation without joint problems, the protective effect was more pronounced (HR = 0.52). The interaction between self-efficacy and visual problems was not significant. CONCLUSIONS: The interaction between self-efficacy and joint problems was associated with the risk of abandonment. Addressing limitations associated with joint problems and individuals' confidence in using their hearing aids could reduce the abandonment.

7.
BMC Geriatr ; 24(1): 828, 2024 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-39395936

RESUMEN

BACKGROUND: Hearing loss in older adults affects general, generic health-related and disease-specific quality of life (QoL). The conventional strategy to address it is through hearing aids, which have been shown to improve disease-specific QoL. However, the long-term results regarding general quality of life are unknown, and communication problems and stigma associated with hearing loss may persist. An effective intervention strategy to address these problems is group communication programs, most notably Active Communication Education (ACE). This program has been shown to increase communication strategies and reduce communication activity limitations and participation restrictions. These precedents allow us to hypothesize that this program could improve general QoL. METHODS: A randomized clinical trial was conducted on 114 older adult hearing aid users. Fifty-four subjects composed the intervention group that received the ACE program, while 60 subjects composed the control group that received an informational-lectures type intervention. The WHOQOL-BREF questionnaire was used to measure general QoL. Measurements were taken before and right after the intervention, with follow-ups at 6 and 12 months. Multilevel linear mixed models were estimated, considering the WHOQOL-BREF dimension scores and total score as the outcomes, and an interaction term between time since intervention and group as the predictor. Within- and between-group comparisons were made. RESULTS: Compared to the baseline time-point, the ACE group showed significant improvements right after the intervention, and at the 6-month and 12-month follow-ups for the dimensions of psychological health, social relationships, environment, and total score. Compared to the control group, the ACE group exhibited significantly greater improvements in the social dimension at all postintervention assessments, as well as in the environment dimension and total score at the 12-month follow-up. CONCLUSIONS: The ACE program improved general QoL in terms of social relationships and environment dimensions, which lasted up to 12 months after the intervention. Therefore, ACE is positioned as an effective complement for HA users, enhancing and delivering new benefits related to broader aspects of QoL not necessarily tied to health. TRIAL REGISTRATION: ISRCTN54021189 (retrospectively registered on 18/07/2023).


Asunto(s)
Comunicación , Audífonos , Pérdida Auditiva , Educación del Paciente como Asunto , Calidad de Vida , Humanos , Calidad de Vida/psicología , Audífonos/psicología , Masculino , Femenino , Anciano , Anciano de 80 o más Años , Pérdida Auditiva/psicología , Pérdida Auditiva/rehabilitación , Pérdida Auditiva/terapia , Educación del Paciente como Asunto/métodos , Estudios de Seguimiento
8.
Rev Bras Med Trab ; 22(2): e20231163, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39371280

RESUMEN

Introduction: Noise-induced hearing loss has a high incidence among Brazilian workers, causing socioeconomic and cognitive impairments. Objectives: To describe noise-induced hearing loss according to professional occupation between 2012 and 2021. Methods: This was a cross-sectional and descriptive study of Brazilian workers affected by noise-induced hearing loss. Data were collected from noise-induced hearing loss notifications filed with the Sistema de Informação de Agravos de Notificação in Brazil. The absolute and relative frequencies of sociodemographic variables and occupational characteristics were assessed. Results: A total of 7,413 cases of noise-induced hearing loss were notified in Brazil. Workers in industrial production were the most affected (56.4%). There was a higher prevalence in White (45.4%), male (87.3%) participants aged between 50 and 59 years (42.5%) from the Southeast region (43%). In this study, 3.5% of participants were temporarily removed from their position, 42.6% reported using personal protective equipment, and 65.7% did not use collective protective equipment. The most prevalent type of noise was continuous noise (33%). Conclusions: Noise-induced hearing loss is prevalent among Brazilian workers and varies according to each occupational group. Cases of noise-induced hearing loss are underreported in Brazil.


Introdução: A perda auditiva induzida por ruído possui alta incidência entre os trabalhadores brasileiros, acarretando prejuízos socioeconômicos e cognitivos. Objetivos: Descrever a perda auditiva induzida por ruído no Brasil segundo a ocupação entre os anos de 2012 e 2021. Métodos: Tratou-se de um estudo transversal e descritivo, cuja população-alvo foi trabalhadores brasileiros afetados pela perda auditiva induzida por ruído. Os dados foram coletados a partir das fichas de notificação de perda auditiva induzida por ruído, oriundas do Sistema de Informação de Agravos de Notificação no período de 2012 a 2021. Foram analisadas as frequências absoluta e relativa de variáveis sociodemográficas e de características do trabalho. Resultados: Foram notificados 7.413 casos de perda auditiva induzida por ruído no país, sendo o grupo de trabalhadores da produção de bens e serviços industriais o mais afetado (56,4%). Houve maior proporção de casos em indivíduos do sexo masculino (87,3%), com cor de pele branca (45,4%), na faixa etária de 50 a 59 anos (42,5%) e da região Sudeste (43%). Entre os trabalhadores, 3,5% foram afastados temporariamente de suas ocupações, 42,6% faziam uso de medidas de proteção individual e 65,7% não utilizavam proteção coletiva. O ruído contínuo foi predominante (33%). Conclusões: A perda auditiva induzida por ruído é prevalente entre os trabalhadores brasileiros e varia conforme o grupo ocupacional. Os casos de perda auditiva induzida por ruído são subnotificados no Brasil.

9.
Rev. peru. med. exp. salud publica ; 41(3): 316-320, jul.-sep. 2024. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1576655

RESUMEN

RESUMEN Se presenta el caso de una mujer joven, trabajadora de salud, residente en una región altoandina del Perú, con exposición reciente a animales de granja y artrópodos, que presenta síndrome febril agudo indiferenciado, trombocitopenia severa y extravasación pulmonar y abdominal. Posteriormente desarrolla meningitis e hipoacusia neurosensorial bilateral de instalación temprana y muestra serología reactiva a infección aguda por Rickettsias sp. Se discuten las consideraciones epidemiológicas y clínicas en el diagnóstico diferencial para un manejo oportuno.


ABSTRACT We present the case of a young female health worker, resident in a high Andean region of Peru, with recent exposure to farm animals and arthropods, who developed acute febrile undifferentiated syndrome, severe thrombocytopenia and pulmonary and abdominal extravasation. Subsequently, the patient developed meningitis and early onset bilateral neurosensorial hypoacusis and showed reactive serology to acute infection by Rickettsia sp. Epidemiological and clinical considerations in the differential diagnosis for early management are discussed.

10.
Rev. Flum. Odontol. (Online) ; 3(65): 51-64, set-dez.2024. tab
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-1567834

RESUMEN

Avaliar a aptidão e conduta de estudantes de Odontologia sobre atendimento de pacientes com de deficiência visual e auditiva. Trata-se de um estudo observacional, do tipo transversal. A coleta de dados foi realizada a partir de um questionário estruturado e a amostra foi constituída por 88 estudantes do 5º, 7º e 9º período, matriculados em alguma disciplina clínica, do curso de Odontologia de uma instituição privada do estado de Pernambuco. Os dados coletados foram tabulados e analisados através de estatística descritiva e inferencial com um nível de significância de 5%. Menos da metade dos estudantes se sente aptos para atender pacientes com essas necessidades, independente do período avaliado. Uma pequena parcela tem algum tipo de contato social/familiar com deficientes visuais e auditivos, mas o fato de possuírem contato, não alterou significativamente a aptidão deste para realizar a consulta. Da mesma forma, possuir informação prévia sobre o tema não influenciou significativamente na aptidão dos estudantes durante o atendimento odontológico. A maioria dos estudantes não se sentem aptos e seguros ao atendimento de pacientes com deficiências visuais e auditivas e que o fato de possuir familiar e/ou parente com esse tipo de deficiência e ter recebido informação prévia sobre o tema não aumenta a segurança dos estudantes.


To evaluate the aptitude and conduct of dentistry students regarding the care of patients with visual and hearing impairments. This is an observational, cross-sectional study. Data collection was carried out using a structured questionnaire and the sample consisted of 88 students from the 5th, 7th and 9th period, enrolled in some clinical discipline, of the Dentistry course at a private institution in the state of Pernambuco. The collected data were tabulated and analyzed using descriptive and inferential statistics with a significance level of 5%. Less than half of the students feel able to care for patients with these needs, regardless of the period evaluated. A small portion has some kind of social/family contact with the visually and hearing impaired, but the fact that they have contact did not significantly change their ability to carry out the consultation. Likewise, having prior information on the subject did not significantly influence the students' aptitude during dental care. Most students do not feel able and safe to care for patients with visual and hearing impairments and that the fact of having a family member and/or relative with this type of disability and having received prior information on the subject does not increase the safety of the students. students.


Asunto(s)
Humanos , Masculino , Femenino , Aptitud , Estudiantes de Odontología , Conducta , Atención Odontológica , Personas con Deficiencia Auditiva , Personas con Daño Visual
11.
Front Neurol ; 15: 1415068, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39296959

RESUMEN

Introduction: Sudden sensorineural hearing loss (SSNHL) is an otological emergency that requires prompt recognition and intervention to prevent devastating impacts on people's lives. During the COVID-19 pandemic, sensory deprivations have been reported in patients positive for SARS-CoV-2 virus, including deleterious effects on the auditory pathway. This study aims to describe the audiological profile of individuals with SSNHL during the COVID-19 pandemic and to correlate hearing recovery in subgroups of individuals with or without COVID-19. Methods: Prospective cohort including patients diagnosed with SSNHL evaluated in a tertiary care center between March 2020 and September 2022. Hearing loss was confirmed with pure-tone and speech audiometry, with Speech Recognition Threshold (SRT) and word recognition score (WRS). Audiometric testing was performed at the moment of diagnosis, then 7, 30 and 120 days after diagnosis. The average degree of hearing loss was assessed by calculating the 4-frequency pure tone average (4fPTA). The investigation of COVID-19 included RT-PCR technique for the SARS-CoV-2 virus and collection of information regarding disease severity. A statistical analysis was performed using an analysis of covariance (ANCOVA) model to compare the 4fPTA between the four groups (with and without a history of COVID-19, unilateral and bilateral cases) at the end of the follow-up period. Results: Fifty-two patients with SSNHL were assessed, 40 (76.9%) with unilateral and 12 (23.1%) with bilateral hearing loss, totaling 64 ears included. Of those, 15 (28.8%) patients tested positive for SARS-CoV-2 and were symptomatic for COVID-19. Of all unilateral cases, 22.5% were seropositive and showed symptoms of COVID-19, a number that increased to 50% for bilateral cases. Comparing the COVID-19 positive groups, individuals with unilateral SSNHL went from 40 dB as their average 4fPTA at onset to 20 dB as their average 4fPTA after 120 days, whereas those with bilateral SSNHL went from an initial average of 60 dB to a final average of 66 dB. Although the 4fPTA value of individuals with unilateral SSNHL improved in 7 days, the mean values showed no significant difference between positive and negative groups. There was a higher incidence of bilateral simultaneous SSNHL in patients who had not been vaccinated against COVID-19 and who presented with symptoms of severe COVID-19. Conclusion: Infection with SARS-CoV-2 resulted in more severe SSNHL, in bilateral SSNHL, and in poorer recovery from SSNHL in bilateral cases. Bilateral SSNHL was seen more frequently in patients who had not received vaccination against COVID-19.

12.
J Pers Med ; 14(9)2024 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-39338160

RESUMEN

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS: PAX3, MITF, EDNRB, EDN3, SOX10, KITLG, and SNAI2. This study investigates the genetic causes of WS in three familial cases. Whole-exome sequencing (WES) was performed to identify single nucleotide variants (SNVs). Copy number variants (CNVs) were analyzed from the WES raw data and through multiplex ligation-dependent probe amplification (MLPA). The study identified one pathogenic SNV and two novel CNVs, corresponding to type I and type II WS patterns in the three families. The SNV, a nonsense variant (c.1198C>T p.Arg400*), was found in MITF and segregated in the affected father. The two CNVs were a deletion of exon 5 in PAX3 in a family with two affected members and a large novel deletion comprising seven genes, including SOX10, in a family with three affected members. These findings confirmed a WS diagnosis through genetic testing. The study emphasizes the importance of integrating multiple genetic testing approaches for accurate and reliable diagnosis, highlighting their role in improving patient management and providing tailored genetic counseling.

13.
J Pediatr (Rio J) ; 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39245235

RESUMEN

OBJECTIVE: This study aims to evaluate the central auditory system of children and adolescents with cystic fibrosis through behavioral assessment of central auditory processing and electrophysiological tests to investigate short and long-latency auditory potentials, comparing them with the results obtained in the control group. METHODS: 117 from 7 to 21 years old patients were evaluated, 57 of them with cystic fibrosis and 60 of the control group, using behavioral evaluation of central auditory processing, auditory brainstem response and long latency auditory evoked potential. The comparison of the research groups was performed using ANOVA for Auditory Brain Response and P300 responses and Wilcoxon and Mann-Whitney tests for Central Auditory Processing responses. RESULTS: A statistically significant difference was found in the results of the GIN test between the groups and in the auditory brainstem response latency responses in waves I and V in the comparison between the groups with higher latencies in the study group. A difference was also found between latencies in the interpeak intervals I-III and III-V. The long latency auditory evoked potential analysis shows a statistically significant difference in the latency of the P300 potential, with higher latencies in the study group. CONCLUSION: Cystic fibrosis participants presented worse performance in the gaps-in-noise test compared to the control group in the evaluation of central auditory processing, which indicates impairment of temporal resolution auditory ability. They also showed increased latency in I and V waves of auditory brainstem response, as well as an increase P300 latency in long latency auditory evoked potential.

14.
Hear Res ; 453: 109120, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39306941

RESUMEN

Exposure to loud sound during leisure time is identified as a significant risk factor for hearing by health authorities worldwide. The current standard that defines unsafe exposure rests on the equal-energy hypothesis, according to which the maximum recommended exposure is a tradeoff between level and daily exposure duration, a satisfactory recipe except for strongly non-Gaussian intense sounds such as gunshots. Nowadays, sound broadcast by music and videoconference streaming services makes extensive use of numerical dynamic range compression. By filling in millisecond-long valleys in the signal to prevent competing noise from masking, it pulls sound-level statistics away from a Gaussian distribution, the framework where the equal-energy hypothesis emerged. Auditory effects of a single 4 hour exposure to the same music were compared in two samples of guinea pigs exposed either to its original or overcompressed version played at the same average level of 102 dBA allowed by French regulations. Apart from a temporary shift of otoacoustic emissions at the lowest two frequencies 2 and 3 kHz, music exposure had no detectable cochlear effect, as monitored at 1, 2 and 7 days post-exposure. Conversely, middle-ear muscle strength behaved differentially as the group exposed to original music had fully recovered one day after exposure whereas the group exposed to overcompressed music remained stuck to about 50% of baseline even after 7 days. Subsamples were then re-exposed to the same music as the first time and sacrificed for density measurements of inner-hair-cell synapses. No difference in synaptic density was found compared to unexposed controls with either type of music. The present results show that the same music piece, harmless when played in its original version, induces a protracted deficit of one auditory neural pathway when overcompressed at the same level. The induced disorder does not seem to involve inner-hair cell synapses.


Asunto(s)
Estimulación Acústica , Música , Ruido , Vigilia , Animales , Cobayas , Ruido/efectos adversos , Factores de Tiempo , Pérdida Auditiva Provocada por Ruido/fisiopatología , Pérdida Auditiva Provocada por Ruido/etiología , Pérdida Auditiva Provocada por Ruido/prevención & control , Emisiones Otoacústicas Espontáneas , Masculino , Cóclea/fisiología , Audición , Umbral Auditivo , Percepción Auditiva , Femenino , Vías Auditivas/fisiología
15.
Biomedica ; 44(2): 168-181, 2024 05 30.
Artículo en Inglés, Español | MEDLINE | ID: mdl-39088526

RESUMEN

Introduction: Hearing health is a public health concern that affects the quality of life and can be disturbed by noise exposure, generating auditory and extra-auditory symptoms. Objective. To identify the hearing health status in adults living in Bogotá and its association with environmental noise exposure and individual and otological factors. Objective: To identify the hearing health status in adults living in Bogotá and its association with environmental noise exposure and individual and otological factors. Materials and methods: We conducted a cross-sectional study using a database with 10,311 records from 2014 to 2018, consigned in a structured survey of noise perception and hearing screening. We performed a descriptive, bivariate, and binary logistic regression analysis. Results: Of the included participants, 35.4% presented hearing impairment. In the perception component, 13.0 % reported not hearing well; 28.8 % had extra-auditory symptoms, 53.3 % informed otological antecedents and 69.0 % presented discomfort due to extramural noise. In the logistic regression, the variables with the highest association for hearing impairment were living in noisy areas (OR = 1.50) (95% CI: 1.34-1.69), being male (OR = 1.85) (95% CI: 1.64-2.09), increasing age (for each year of life, the risk of hearing impairment increased 6%), and having history of extra-auditory symptoms (OR = 1.86) (95% CI: 1.66-2.08). Conclusions: Hearing impairment is multi-causal in the studied population. The factors that promote its prevalence are increasing age, being male, smoking, ototoxic medications, living in areas with high noise exposure, and extra-auditory symptoms.


Introducción. La salud auditiva es un tema de interés en salud pública que afecta la calidad de vida y que puede afectarse por la exposición continua al ruido, un factor de riesgo que genera síntomas auditivos y extraauditivos. Objetivo. Identificar el estado de salud auditiva de adultos que viven en Bogotá, y su asociación con factores de exposición a ruido ambiental, individuales y otológicos. Materiales y métodos. Se realizó un estudio transversal mediante el análisis de una base de datos con 10.311 registros, obtenidos entre los años 2014 y 2018, producto de una encuesta estructurada de percepción de ruido y tamizaje auditivo. Se hizo un análisis descriptivo bivariado y una regresión logística binaria. Resultados. El 35,4 % de los participantes presentó disminución auditiva. En el componente de percepción: 13,0 % refirió no escuchar bien, 28,8 % informó síntomas extraauditivos, 53,3 % tenía antecedentes otológicos, y 69,0 % manifestó molestia por ruido extramural. En la regresión logística, las variables más asociadas con disminución auditiva fueron: de las ambientales, vivir en zonas de mayor ruido (OR = 1,50) (IC95%: 1,34-1,69); de las individuales, ser hombre (OR = 1,85) (IC95%: 1,64-2,09) y la edad (por cada año de vida, el riesgo de disminución auditiva aumentó 6 %); y de las otológicas, tener antecedente de síntomas otológicos (OR = 1,86) (IC95%: 1,66-2,08). Conclusiones. La disminución auditiva es multicausal en la población evaluada. Los factores que aumentan su prevalencia son incremento de la edad, ser hombre, tabaquismo, medicamentos ototóxicos, vivir en zonas de mayor exposición a ruido y presentar síntomas extraauditivos.


Asunto(s)
Exposición a Riesgos Ambientales , Pérdida Auditiva Provocada por Ruido , Ruido , Humanos , Colombia/epidemiología , Adulto , Estudios Transversales , Persona de Mediana Edad , Masculino , Adolescente , Femenino , Ruido/efectos adversos , Adulto Joven , Pérdida Auditiva Provocada por Ruido/epidemiología , Pérdida Auditiva Provocada por Ruido/etiología , Exposición a Riesgos Ambientales/efectos adversos , Factores de Riesgo
16.
Diagnostics (Basel) ; 14(15)2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39125493

RESUMEN

BACKGROUND: This study examined the relationship between behavioural thresholds as measured by pure tone audiometry and electrophysiological thresholds measured by the Auditory Steady-State Response (ASSR) in children with normal hearing and sensorineural hearing loss. MATERIALS AND METHODS: After being assessed, 45 children of both sexes, ranging in age from 5 to 15, were split into four groups: 10 with moderate to moderately severe sensorineural hearing loss (G2M); 10 with steeply sloping sensorineural hearing loss (G2D); 10 with profound and severe sensorineural hearing loss (G2S); and 15 with normal hearing (G1). ASSR, tympanometry, acoustic reflex testing, pure tone audiometry, and speech audiometry (SRT and SDT) were performed. RESULTS: The electrophysiological maximum in the group with normal hearing thresholds varied from 19 to 27 dB NA. The correlation in the group with moderate to moderately severe hearing loss was 0.42-0.74. The correlation in the steeply sloping hearing loss group was 0.68-0.94. The correlation in the group of people with profound and severe hearing loss was 0.59-0.86. The normal hearing group's mean differences in ASSR threshold and audiometric threshold ranged from -0.3 to 12 dB, in the moderate and moderately severe hearing loss group from -9 to 2 dB, in the steeply sloping hearing loss group from 1.4 to 7.5 dB, and in the severe and profound hearing loss group from -0.40 to 8.5 dB. CONCLUSION: As expected, there was no strong relationship between behavioural and electrophysiological thresholds in the group with normal hearing. But in children with hearing loss, there was a strong correlation between electrophysiological and behavioural thresholds; this relationship was especially evident in children with severe and profound hearing loss and those with steeply sloping hearing loss.

17.
Rev Bras Med Trab ; 22(1): e20231189, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39165515

RESUMEN

Introduction: Considering that noise is present in different work environments, occupational health regulations have been created that advocate for the care of employees' auditory system in these environments. Occupational hearing assessment should be performed by audiologists through audiological examinations, otoscopy, as well as an interview to assess possible risk factors for the development of hearing loss. However, up to the present moment, a standardized set of updated questions for this interview has not been defined. Objectives: To develop a clinical investigation instrument for occupational auditory health that provides support for clinical decision-making and differential diagnosis. Methods: The study was conducted using Design Thinking as a methodological approach in its stages of inspiration (problem identification), ideation (theoretical foundation and protocol design), and prototyping (protocol construction). Experience report: This study was conducted with the objective of providing support for clinical decision-making and differential diagnosis of the auditory aspects of the assisted population. The Protocolo de Investigação Clínica da Saúde Auditiva Ocupacional was developed, consisting of six main sections that address medical history, lifestyle habits, exposure to non-occupational noise, work history, extra-auditory symptoms, and auditory and vestibular signs and symptoms, aimed at investigating workers' auditory health and related aspects. Conclusions: The developed instrument can be used for data collection and assist audiologists in the occupational health teams in diagnosis and decision-making processes.


Introdução: Considerando que o ruído está presente em diferentes ambientes laborais, foram criadas normas regulamentadoras de saúde ocupacional que preconizam o cuidado com o sistema auditivo dos colaboradores destes ambientes. A avaliação auditiva ocupacional deve ser realizada pelo fonoaudiólogo através dos exames de audiometria e meatoscopia, além de uma entrevista para avaliar possíveis fatores de risco para o desenvolvimento de perdas auditivas. Entretanto, até o presente momento não foi definido um padrão de perguntas atualizado para esta entrevista. Objetivos: Desenvolver um instrumento de investigação clínica da saúde auditiva ocupacional que ofereça suporte para tomadas de decisões clínicas e diagnóstico diferencial. Métodos: O estudo foi desenvolvido utilizando o design thinking como abordagem metodológica em suas etapas de inspiração (observada a problemática), ideação (fundamentação e delineamento teórico do protocolo) e prototipação (construção do protocolo). Relato da experiência: Este estudo foi realizado objetivando oferecer suporte para tomadas de decisões clínicas e diagnóstico diferencial dos aspectos auditivos da população assistida. Foi desenvolvido o Protocolo de Investigação Clínica da Saúde Auditiva Ocupacional, composto de seis seções principais que abordam o histórico clínico, hábitos de vida, exposição a ruído extraocupacional, histórico laboral, sintomas extra-auditivos e sinais e sintomas auditivos e vestibulares, que visam investigar a saúde auditiva do trabalhador e aspectos relacionados a ela. Conclusões: O instrumento desenvolvido poderá servir para a coleta de dados e auxílio para diagnóstico e tomada de decisões dos fonoaudiólogos das equipes de saúde ocupacional.

18.
Rheumatol Ther ; 11(5): 1085-1099, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39096417

RESUMEN

INTRODUCTION: Patients with fibromyalgia (FM) have innumerable complaints due to the central amplification of somatic stimuli. The aim of this paper was to review the ear complaints in patients with FM. METHODS: A review of articles published in PubMed/MEDLINE, Embase, Web of Science, and Scopus from 1966 to June 2023 was performed. RESULTS: Seventeen papers were included in the review. They showed that patients with FM have a higher hearing loss rate, mostly at high frequencies, and hyperacusis. The prevalence of vestibular symptoms (tinnitus, dizziness) and hyperacusis was higher than in the general population, reaching 87.0% of the sample. Subjective findings did not always correspond to objective results. In some studies, the degree of FM severity was associated with ear symptoms; in others, it was not. CONCLUSIONS: Ear complaints in patients with FM are linked to subjacent disease and may be related to stimuli central amplification.

19.
Int Arch Otorhinolaryngol ; 28(3): e502-e508, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38974619

RESUMEN

Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility. Objective To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender. Methods We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years - 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR. Results Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III. Conclusion Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

20.
Int Arch Otorhinolaryngol ; 28(3): e543-e551, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38974623

RESUMEN

Introduction CyberKnife (CK) radiosurgery is a treatment strategy for vestibular schwannoma (VS). Objectives To evaluate hearing preservation (HP) after CK for VS. Data Synthesis The study was conducted following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement, and it was registered at the International Prospective Register of Systematic Reviews (PROSPERO, under number CRD42021250300). The inclusion criteria were based on the population, intervention, comparison, outcome, timing and study design (PICOTS) strategy: population - patients with VS; intervention - CK; Comparison - none; Outcome - serviceable HP defined by Gardner and Robertson as grades I or II, or by the American Academy of Otolaryngology and Head and Neck Surgery as classes A or B; timing - mean follow-up longer than 1 year; and study design - retrospective or prospective studies. The exclusion criteria were: studies not published in English; studies published before January 2000 and after October 2021; and studies only including patients with neurofibromatosis type 2 or submitted to a previous treatment. The PubMed/MEDLINE, EMBASE, Web of Science, Cochrane Library, LILACS, and IBECS databases were used and last searched on October 27th, 2021. Statistical heterogeneity was assessed using I 2 statistics. The appraisal checklist was used to assess the risk of bias in the included studies. A total of 222 studies were analyzed, and 13 were included in the synthesis, which represents 493 participants with serviceable hearing before intervention. The mean HP rate after CK using a random effects model was of 68% (95% confidence interval [95%CI]: 59-76%) at a mean follow-up of 42.96 months. Conclusion The longer follow-up period was associated with a lower HP rate after CK radiosurgery for VS in the qualitative synthesis.

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