Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 33
Filtrar
1.
Telemed J E Health ; 2024 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-39158223

RESUMO

Introduction: The aim of this study was to evaluate the distribution of virtual voice therapy during the coronavirus disease 2019 (COVID-19) lockdown in Italy via the collection of opinions of speech-language pathologists (SLPs). Methods: All SLPs who regularly carried out their professional activity in public hospitals, private hospitals, or private practices in Italy were asked to fill out an online survey consisting of two sections: (1) demographic information (age, gender, work setting, seniority, working time, and regular use of virtual voice therapy) and (2) opinions regarding telerehabilitation (motivation, personal satisfaction, effectiveness, and future needs and uses). Results: A total of 299 SLPs (mean age 39.1 ± 12.4 years) completed the survey. Overall, a regular use of virtual voice therapy was declared by 31.1% (93/299) of SLPs, with the highest prevalence for SLPs working in fully private facilities (46.7%; p < 0.001). Among all respondents, 25.4% had a highly positive opinion on the possible use of virtual voice therapy, even in nonemergency situations, and 55.8% planned to maintain this rehabilitation modality in the future. Discussion: Italian SLPs, regardless of age, had a positive impact with the new telerehabilitation practices. Investments in training and updating SLPs through specific courses would help to break down the strong barriers to telepractice acceptance, such as lack of familiarity with new technologies and lack of adequate preparation. Virtual voice therapy, which had never been experienced in such a way in Italy before the COVID-19 pandemic, promises to be a valuable future addition to the current traditional rehabilitation approaches.

2.
Int J Mol Sci ; 25(16)2024 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-39201321

RESUMO

Several chronic respiratory diseases could be risk factors for acquiring SARS-CoV-2 infection: among them, Primary Ciliary Dyskinesia (PCD) is a rare (about 1:10.000) inherited ciliopathy (MIM 242650) characterized by recurrent upper and lower respiratory tract infections due to a dysfunction of the respiratory cilia. In this study, we aimed to investigate whether PCD subjects are more susceptible to infection by SARS-CoV-2 and whether some polymorphisms of the TAS2R38 bitter taste receptor correlate with an increased prevalence of SARS-CoV-2 infection and severity of symptoms. Patients answered several questions about possible SARS-CoV-2 infection, experienced symptoms, and vaccinations; in the case of infection, they also filled out a SNOT-22 questionnaire and ARTIQ. Forty PCD adult patients (mean age, 36.6 ± 16.7 years; 23 females, 17 males) participated in this study, out of which 30% had tested positive for COVID-19 during the last four years; most of them reported a mildly symptomatic disease. We found no differences in age or sex, but a statistically significant difference (p = 0.03) was observed in body mass index (BMI), which was higher in the COVID-acquired group (23.2 ± 3.3 vs. 20.1 ± 4.1 kg/m2). Genotyping for TAS2R38 polymorphisms showed a prevalence of 28.6% PAV/PAV, 48.6% PAV/AVI, and 22.8% AVI/AVI individuals in our cohort. In contrast to our hypothesis, we did not observe a protective role of the PAV allele towards SARS-CoV-2 infection. Conclusions: Our findings suggest that subjects with PCD may not be at increased risk of severe outcomes from COVID-19 and the TAS2R38 bitter taste receptor genotype does not affect SARS-CoV-2 infection.


Assuntos
COVID-19 , Genótipo , Receptores Acoplados a Proteínas G , SARS-CoV-2 , Humanos , Masculino , Feminino , COVID-19/genética , COVID-19/virologia , COVID-19/epidemiologia , Adulto , Receptores Acoplados a Proteínas G/genética , Pessoa de Meia-Idade , SARS-CoV-2/genética , Polimorfismo de Nucleotídeo Único , Transtornos da Motilidade Ciliar/genética , Predisposição Genética para Doença , Adulto Jovem
3.
Am J Otolaryngol ; 44(1): 103669, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36283164

RESUMO

PURPOSE: The present study assessed the prevalence of audio-vestibular symptoms following SARS-COV-2 infection or COVID-19 vaccination among children, comparing the two groups. A further aim was to evaluate whether children with pre-existing unilateral hearing loss were more prone to adverse events. MATERIALS AND METHODS: This retrospective study included children aged 5-11 years with normal hearing or a proven history of unilateral hearing loss who contracted SARS-CoV-2 or received two doses of COVID-19 vaccine. Tinnitus, hyperacusis, aural fullness, otalgia, otorrhea, new-onset hearing loss, vertigo and dizziness were investigated as possible complications of SARS-CoV-2 infection or the COVID-19 vaccine. RESULTS: This study included 272 children (143 boys, 129 girls), with a mean age of 7.8 ± 2.3 years. Among these, 120 were affected by pre-existing unilateral hearing loss. The most common audio-vestibular symptoms reported by children following SARS-CoV-2 infection and COVID-19 vaccination were aural fullness (33/132, 25 %) and dizziness (5/140, 3.6 %), respectively. All symptoms following COVID-19 vaccination resolved within 24 h. Compared to children who received the COVID-19 vaccine, those infected with SARS-CoV-2 had a higher prevalence of tinnitus (p = 0.009), hyperacusis (p = 0.003), aural fullness (p < 0.001), otalgia (p < 0.001), otorrhea (p < 0.001), and vertigo (p = 0.006). Two girls also experienced new-onset unilateral sensorineural hearing loss following SARS-CoV-2 infection. Children with a known history of unilateral hearing loss did not have a higher prevalence of audio-vestibular symptoms than children with normal hearing. CONCLUSIONS: Our results suggest that the COVID-19 vaccine is safe and can be recommended for children with unilateral hearing loss without fear of possible audio-vestibular sequelae.


Assuntos
COVID-19 , Perda Auditiva Unilateral , Zumbido , Masculino , Criança , Feminino , Humanos , Pré-Escolar , Vacinas contra COVID-19/efeitos adversos , COVID-19/complicações , COVID-19/epidemiologia , COVID-19/prevenção & controle , SARS-CoV-2 , Tontura/epidemiologia , Tontura/etiologia , Hiperacusia , Dor de Orelha , Estudos Retrospectivos , Vacinação/efeitos adversos , Vertigem
4.
Undersea Hyperb Med ; 50(2): 145-153, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37302077

RESUMO

Purpose: Sudden sensorineural hearing loss (SSNHL) is a time-sensitive urgent condition. The aim of this study was to evaluate the frequency of hearing improvement in patients with idiopathic SSNHL who only received hyperbaric oxygen (HBO2) therapy within three days of symptom onset, instead of conventional corticosteroid treatment. Methods: The medical charts of patients who experienced SSNHL between January 1, 2012, and December 31, 2021, were reviewed. The present study included all adult patients who were diagnosed with idiopathic SSNHL and started HBO2 therapy within 72 hours of symptom onset. These subjects did not take corticosteroids due to contraindications or because they were concerned about possible side effects. The HBO2 therapy protocol consisted of at least 10 sessions of 85 minutes each with pure oxygen inhalation at 2.5 atmospheres absolute pressure. Results: Overall, 49 subjects (26 males and 23 females) met the inclusion criteria, with a mean age of 47 (± 20.4) years. The mean initial hearing threshold was 69.8 dB (±18.0). After HBO2 therapy, complete hearing recovery was observed in 35 patients (71.4%), and the mean hearing threshold improved significantly (p≺0.001) to 31.4 dB (±24.5). In patients with complete hearing recovery, no significant differences were found between males and females (p=0.79), right and left ears (p=0.72) or initial grades of hearing loss (p=0.90). Conclusion: This study suggests that, in the absence of the confounding effect of concurrent steroid therapy, starting HBO2 therapy within three days of symptom onset could have a positive impact on patients with idiopathic SSNHL.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Oxigenoterapia Hiperbárica , Adulto , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Perda Auditiva Súbita/tratamento farmacológico , Oxigenoterapia Hiperbárica/efeitos adversos , Oxigenoterapia Hiperbárica/métodos , Audição , Perda Auditiva Neurossensorial/tratamento farmacológico , Estudos Retrospectivos , Resultado do Tratamento
5.
Am J Med Genet A ; 182(10): 2345-2358, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32820599

RESUMO

Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9-52, underwent audiological tests including pure-tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X-linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high-frequency range. Otoacoustic emissions were absent in about one-third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo-ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure.


Assuntos
Audiometria de Tons Puros , Cóclea/fisiopatologia , Perda Auditiva/genética , Nefrite Hereditária/genética , Adolescente , Adulto , Criança , Feminino , Teste do Impulso da Cabeça , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/fisiopatologia , Emissões Otoacústicas Espontâneas/fisiologia , Vestíbulo do Labirinto/diagnóstico por imagem , Vestíbulo do Labirinto/fisiopatologia , Adulto Jovem
6.
BMC Infect Dis ; 19(1): 652, 2019 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-31331274

RESUMO

BACKGROUND: Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018. METHODS: Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life. RESULTS: Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection. CONCLUSIONS: The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Teste em Amostras de Sangue Seco/métodos , Perda Auditiva/diagnóstico , Triagem Neonatal/métodos , Citomegalovirus/genética , Infecções por Citomegalovirus/sangue , Feminino , Perda Auditiva/virologia , Testes Auditivos , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Reação em Cadeia da Polimerase
9.
J Paediatr Child Health ; 59(5): 776, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37074195
12.
Auris Nasus Larynx ; 51(2): 271-275, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37903661

RESUMO

OBJECTIVE: The role of iron chelation in causing hearing loss (HL) is still unclear. The present study assessed the prevalence of HL among transfusion-dependent thalassemia (TDT) patients who underwent audiological follow-up over a 20-year period. METHODS: We retrospectively analyzed clinical records and audiological tests from January 1990 (T0) to December 2022 (T22) of a group of TDT patients who received iron chelation therapy with deferoxamine (DFO), deferiprone (DFP) or deferasirox (DFX), in monotherapy or as part of combination therapy. RESULTS: A total of 42 adult TDT patients (18 male, 24 female; age range: 41-55 years; mean age: 49.2 ± 3.7 years) were included in the study. At the T22 assessment, the overall prevalence of sensorineural HL was 23.8 % (10/42). When patients were stratified into two groups, with and without ototoxicity, no differences were observed for sex, age, BMI, creatinine level, pre-transfusional hemoglobin, start of transfusions, cardiac or hepatic T2 MRI; only ferritin serum values and duration of chelation were significantly higher (p = 0.02 and p = 0.01, respectively) in patients with hearing impairment in comparison to those with normal hearing. CONCLUSION: This study with long-term follow-up suggests that iron chelation therapy might induce ototoxicity; therefore, a long and accurate audiological follow-up should be performed in TDT patients.


Assuntos
Sobrecarga de Ferro , Ototoxicidade , Talassemia beta , Adulto , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Talassemia beta/complicações , Talassemia beta/tratamento farmacológico , Talassemia beta/epidemiologia , Deferasirox/uso terapêutico , Deferiprona/uso terapêutico , Desferroxamina/uso terapêutico , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Seguimentos , Estudos Retrospectivos , Ototoxicidade/complicações , Ototoxicidade/tratamento farmacológico , Benzoatos/uso terapêutico , Triazóis/uso terapêutico , Piridonas/uso terapêutico , Quelantes de Ferro/uso terapêutico , Ferro/uso terapêutico , Audição
13.
Ital J Pediatr ; 50(1): 19, 2024 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-38273404

RESUMO

BACKGROUND: Diagnosis of acute otitis media (AOM) in children can be challenging, given that symptoms are often non-specific or absent, and that the direct observation of the tympanic membrane in its entirety through otoscopy can sometimes be difficult. The aim of this study is to assess the diagnostic concordance in detection of AOM episodes between primary care paediatricians and physicians especially trained in paediatric otoscopy, and to characterize the most misleading elements in diagnostic failure. METHODS: Consecutive clinical charts of children regularly followed for recurrent AOM (RAOM, i.e.: >3 episodes in 6 months or > 4 episodes in 1 year) at our Otitis Media paediatric outpatient clinic were retrospectively screened, in order to collect any diagnosis of AOM episode (and the related clinical findings/middle ear complaints) performed by primary care paediatricians/emergency room paediatricians. Diagnosis of AOM episode was validated by the same experienced physician (FF) in case of otoscopic relief of a bulging eardrum with at least one of the following: hyperaemia or yellow-like colour. The diagnostic concordance in detection of AOM episodes between primary care/emergency room paediatricians and our internal validator was expressed as the percentage of matching diagnosis. RESULTS: One hundred and thirty-four single AOM episodes occurring in 87 children (mean age: 26.9 +/- 18.9 months) were included in the analysis. Diagnostic concordance in detection of AOM episodes between primary care/emergency room paediatricians and our internal validator was reported in 72.4% of cases. The most common pitfall found in our study was the misleading diagnosis of AOM in case of hyperaemic tympanic membrane without bulging (32/37 out of non-validated diagnoses). CONCLUSIONS: AOM diagnosis still represents a relevant issue among paediatricians in our country, and the presence of tympanic membrane hyperaemia without concomitant bulging can be confusing.


Assuntos
Hiperemia , Otite Média , Criança , Humanos , Lactente , Pré-Escolar , Estudos Retrospectivos , Otite Média/diagnóstico , Otoscopia , Doença Crônica , Doença Aguda
14.
Children (Basel) ; 11(3)2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38539359

RESUMO

The aim of this study was to evaluate audiological characteristics and parents' opinions on hearing device use in children with unilateral sensorineural hearing loss (USNHL) who attended a tertiary-level audiologic center. The medical charts of 70 children aged 6 to 12 years with USNHL were reviewed. In 51.4% of cases, the children were diagnosed with USNHL after the age of 2 years. The main causes of USNHL were congenital cytomegalovirus infection (21.4%) and unilateral cochlear nerve hypoplasia (12.9%). The percentage of patients wearing a hearing device was 45.7% (32/70); of these, 28 (87.5%) wore a conventional hearing aid, 2 (6.3%) a CROS device, and 2 (6.3%) a cochlear implant. Regarding the choice to use a hearing device, no significant differences were found between the subcategories of hearing loss degree (p = 0.55) and audiometric configuration (p = 0.54). Most parents of children with mild-to-severe USNHL observed improved attention (90.9%), and reduced fatigue and restlessness (86.4%) using the hearing aid. These children performed significantly better on all audiological tests (speech perception in quiet and in noise conditions, and sound localization) while wearing the hearing aid (p < 0.001). More efforts should be made to raise awareness among professionals and parents about the negative consequences of uncorrected USNHL.

15.
J Clin Med ; 13(11)2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38893014

RESUMO

Objectives: The purpose of this study was to investigate the hearing characteristics and causes of sudden sensorineural hearing loss (SSNHL) in patients aged from 15 to 40 years, focusing on audiological outcomes one year after the diagnosis. Methods: The medical records of individuals with SSNHL who were referred to our tertiary-level audiologic center were reviewed. All patients had undergone comprehensive diagnostic evaluations, including high-resolution 3D-FLAIR delayed magnetic resonance imaging (MRI), cone beam computed tomography (CBCT), and screening for coagulation, infectious, and autoimmune diseases. Results: Overall, 56 patients (mean age 28.1 ± 7.6 years) were included in the study. The hearing threshold in the affected ear improved significantly from 56.0 ± 18.0 dB at the diagnosis to 46.9 ± 22.3 dB after one year (p = 0.02). The degree of hearing loss, audiometric configurations, hearing improvements, and adherence to hearing treatments showed considerable variability among patients. Aural fullness, tinnitus, and hyperacusis were the predominant symptoms associated with SSNHL, and their prevalence decreased significantly over time. The diagnostic protocol led to the identification of the specific cause of SSNHL in 75% (42/56) of patients. The known etiology was found to be otological (39.3%), infectious (21.4%), autoimmune (7.1%), vascular (5.4%), or neoplastic (1.8%). In particular, Menière's disease (n = 12), isolated cochlear endolymphatic hydrops (n = 6), HSV-1 (n = 5), and EBV (n = 4) infections were the most frequent causes of SSNHL. Conclusions: The identification of the specific etiology of SSNHL may facilitate a more personalized approach to management and treatment.

16.
Otolaryngol Head Neck Surg ; 171(3): 724-730, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38613183

RESUMO

OBJECTIVE: To assess the prevalence of otitis media with effusion (OME) among children who attended a tertiary level audiologic center 2 and 3 years after the COVID-19 lockdown, and to determine the impact of temporary interruption of day care center attendance on chronic OME. STUDY DESIGN: Retrospective study. SETTING: Tertiary level referral audiologic center. METHODS: We assessed the prevalence of OME among children aged 6 months to 12 years in 3 different periods (May-June 2022, January-February 2023, and May-June 2023) and compared the results with those of the corresponding periods before the COVID-19 lockdown. We also compared the disease resolution rates between a subgroup of children with chronic OME who interrupted day care center attendance for a 2-month period (Subgroup A) and a similar subgroup who continued attending day care centers (Subgroup B). RESULTS: The prevalence of OME was 38.5% (138/358) in May-June 2022, 51.9% (193/372) in January-February 2023, and 40.9% (149/364) in May-June 2023. No significant prevalence differences were observed between the periods May-June 2019, May-June 2022, and May-June 2023 (P = .78), and between the periods January-February 2020 and January-February 2023 (P = .93). At the May-June 2023 assessment, the children belonging to Subgroup A presented a greater rate of disease resolution (85.7%, 18/21) than the children belonging to Subgroup B (32%, 8/25, P < .001). CONCLUSION: This study suggests that the prevalence of OME has returned to prelockdown levels, and that interrupting day care center attendance for a 2-month period could be effective in resolving most cases of chronic OME.


Assuntos
COVID-19 , Otite Média com Derrame , Humanos , COVID-19/epidemiologia , Estudos Retrospectivos , Otite Média com Derrame/epidemiologia , Masculino , Criança , Feminino , Pré-Escolar , Lactente , Prevalência , Creches/estatística & dados numéricos , SARS-CoV-2 , Pandemias
17.
Audiol Res ; 13(4): 651-652, 2023 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-37622932

RESUMO

We read with pleasure the interesting paper titled "Social Representations of "Tinnitus" and "Health" among Individuals with Tinnitus Seeking Online Psychological Interventions" by Vinaya Manchaiah et al. [...].

18.
Auris Nasus Larynx ; 50(3): 450-457, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36041910

RESUMO

OBJECTIVE: Teachers have an increased prevalence of voice disorders. The present study aimed to investigate the impact of remote teaching on perceived voice fatigue among Italian teachers of all grades during the lockdown due to the COVID-19 pandemic. METHOD: s The participants were 195 female teachers (Mage=48.77; SDage=9.61) in primary, secondary, and high schools. They completed the Vocal Fatigue Index (VFI) through an online survey. The tool includes 19 items grouped into three dimensions: tiredness of voice and avoidance of voice use (TA); physical discomfort (PD); and improvement of symptoms with rest (IS). The participants reported their perceived voice fatigue during remote teaching. They were also asked to provide data about voice fatigue as perceived in previous classroom teaching. The data were analyzed through two sets of independent one-way ANOVAs, with voice fatigue subscales as criterion variables and school grade as a between-subjects factor. RESULTS: The teachers involved in the study reported higher voice fatigue scores than vocally healthy adults from the general population. Primary school teachers showed higher voice fatigue during remote teaching than both secondary and high school teachers, specifically for the TA and PD dimensions, whereas no difference emerged for IS. The VFI scores of primary school teachers were similar to those of dysphonic individuals. CONCLUSION: The results of the study confirm that primary school teachers are more vulnerable to developing voice disorders and suggest the need for specific vocal health interventions in case of prolonged remote work.


Assuntos
COVID-19 , Doenças Profissionais , Distúrbios da Voz , Adulto , Humanos , Feminino , Pandemias , Teletrabalho , Doenças Profissionais/epidemiologia , Doenças Profissionais/diagnóstico , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Distúrbios da Voz/epidemiologia , Distúrbios da Voz/diagnóstico , Instituições Acadêmicas , Inquéritos e Questionários
19.
Laryngoscope ; 133(2): 248-254, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35312075

RESUMO

OBJECTIVES: Chronic rhinosinusitis (CRS) is a major hallmark of primary ciliary dyskinesia (PCD). We investigated the possible correlation between some severity markers of CRS and several clinical features of the disease. We further studied the bitter taste receptor TAS2R38 polymorphisms to identify the genotypes associated with more severe disease. METHODS: We included 39 adult PCD patients with (CRSwNP) and without nasal polyposis (CRSsNP); a sample for nasal cytology was obtained and clinical cytological grading (CCG) was determined. The SNOT-22 and Lund-Mackay scores were recorded. A sample of DNA was extracted from peripheral blood to investigate TAS2R38 polymorphisms. RESULTS: CRSwNP patients had features of more severe disease: indeed, they had statistically significantly higher frequency of previous sinus surgery, higher SNOT-22, LM scores, and CCG than CRSsNP patients. Upon genotyping of TAS2R38 polymorphisms, we observed that the AVI-AVI genotype, associated to homozygous nonfunctional bitter TAS2R38 receptor, was more prevalent among CRSwNP (100%) than in CRSsNP patients (0%); furthermore, AVI-AVI subjects showed statistically significantly worse SNOT-22 and CCG scores than PAV-PAV and PAV-AVI subjects. The group of AVI-AVI patients also had more frequent respiratory exacerbations, Gram-negative infections, and Pseudomonas aeruginosa colonization than PAV-PAV and PAV-AVI patients. CONCLUSION: Our findings indicate for the first time that PCD patients with CRSwNP display a more severe disease than those with CRSsNP. Genotyping of TAS2R38 polymorphisms demonstrated that in PCD patients, the AVI-AVI genotype is strikingly more prevalent among CRSwNP than in CRSsNP, while the PAV-PAV genotype might be protective against Gram-negative infections and respiratory exacerbations. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:248-254, 2023.


Assuntos
Transtornos da Motilidade Ciliar , Pólipos Nasais , Rinite , Sinusite , Adulto , Humanos , Genótipo , Receptores Acoplados a Proteínas G/genética , Sinusite/complicações , Sinusite/genética , Homozigoto , Disgeusia , Transtornos da Motilidade Ciliar/genética , Doença Crônica , Rinite/complicações , Rinite/genética
20.
Artigo em Inglês | MEDLINE | ID: mdl-38015432

RESUMO

BACKGROUND: The present study aimed to assess the prevalence and characteristics of hearing loss (HL) among preschoolers with speech-language delay who had passed the universal newborn hearing screening (UNHS). METHODS: This retrospective study included children aged 2-6 years with isolated speech-language delay who were referred to a third-level audiological center for a comprehensive audiological assessment, including otomicroscopy, tympanometry, and click-evoked auditory brainstem responses. RESULTS: A total of 375 speech-language delayed children (285 male and 90 female) were assessed. The mean age was 41±12.4 months. Overall, 133 children (35.5%) were diagnosed with HL: 16 children (12.0%) had sensorineural HL (six unilaterally and 10 bilaterally), six (4.5%) had mixed HL (one unilaterally and five bilaterally), and 111 (83.5%) had conductive HL (19 unilaterally and 92 bilaterally). Regarding the presence of HL, no significant differences were found between males and females (P=0.60) or age groups (P=0.29). Among children with HL, 24 (18.0%) underwent tympanostomy tube placement (all bilaterally), one (0.8%) underwent unilateral cochlear implantation, eight (6.0%) were fitted with hearing aids (one unilaterally and seven bilaterally), two (1.5%) received a bimodal hearing solution (a cochlear implant on one ear and a hearing aid on the other ear), and 98 (73.7%) received no treatment. CONCLUSIONS: Although UNHS and audiological surveillance programs have been implemented over the years, all children with speech-language delay should undergo audiological evaluation. Indeed, the prevalence of undetected HL is not negligible among preschoolers with speech-language delay and requires early diagnosis and prompt treatment.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA