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1.
Pediatr Rep ; 16(1): 201-213, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38535514

RESUMO

BACKGROUND: Lemierre syndrome is a rare, potentially fatal complication of oropharyngeal infections characterized by septic thrombophlebitis of the internal jugular vein. It primarily affects healthy adolescents and young adults. Its incidence declined after the antibiotic era, but it may have resurged in recent decades, likely due to judicious antibiotic use and increasing bacterial resistance. Prompt diagnosis and treatment are imperative to prevent significant morbidity and mortality. METHODS: Lemierre syndrome has been called "the forgotten disease," with a reported incidence of around 3.6 cases per million. The mean age at presentation is around 20 years old, though it can occur at any age. Lemierre Syndrome follows an oropharyngeal infection, most commonly pharyngitis, leading to septic thrombophlebitis of the internal jugular vein. F. necrophorum is the classic pathogen, though other organisms are being increasingly isolated. Metastatic infections, especially pulmonary, are common complications. Contrast-enhanced CT of the neck confirming internal jugular vein thrombosis is the gold standard for diagnosis. Long-course broad-spectrum IV antibiotics covering anaerobes are the mainstays of the disease's treatment. Anticoagulation may also be considered. Mortality rates are high without treatment, but most patients recover fully with appropriate therapy. CONCLUSIONS: Lemierre syndrome should be suspected in patients with prolonged pharyngitis followed by unilateral neck swelling and fevers. Early diagnosis and prompt antibiotic therapy are key, given the potential for disastrous outcomes if untreated. An increased awareness of Lemierre syndrome facilitates its timely management.

3.
Head Neck ; 2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38469988

RESUMO

OBJECTIVE: The aim of this study is to analyze oncologic outcomes and complications rate after common or internal carotid artery (CCA/ICA) resection for head and neck squamous cell carcinoma (HNSCC). METHODS: This study was conducted in conformity with the PRISMA statement. A systematic review and pooled analysis was performed for overall survival (OS), disease specific survival (DSS) (primary outcomes), and perioperative death rate (secondary outcome). RESULTS: A total of 276 patients (males: 76.7%, n = 191/249) with a median age of 59 years (n = 239/276; 95% CI 55.0-61.7) who underwent CCA/ICA resection for HNSCC were included. The median follow-up time was 11 months (n = 276). Estimated pooled OS rates (95% CI) at 1 and 2 years were 52.7% (46.9-59.2) and 29.8% (24.3-36.5), respectively. The median OS (95% CI) was 14 months (12-17). Estimated pooled DSS rates (95% CI) at 1 and 2 years were 58.6% (52.7-65.2) and 34.6% (28.5-41.9), respectively. The median DSS (95% CI) was 16 months (14-19). The perioperative death rate was 6.9% (n = 19/276). CONCLUSIONS: CCA/ICA resection should be considered as a treatment option for accurately selected patients. Multicentric prospective studies are recommended to develop a predictive score guiding the decision-making process.

5.
Oncol Lett ; 27(2): 69, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38192674

RESUMO

Despite its histological resemblance to colorectal adenocarcinoma, there is little information about the molecular events involved in the pathogenesis of intestinal-type sinonasal adenocarcinoma (ITAC). The present study investigated the possible role and clinical value of microRNA (miR)-let-7a, a head and neck squamous cell carcinoma-related miR, in a well-characterized and homogeneous cohort of patients with ethmoidal ITAC associated with occupational exposure, treated by primary surgery. miR-let-7a expression levels were analyzed in 23 pairs of ethmoidal ITAC and adjacent normal formalin-fixed paraffin-embedded tissues by reverse transcription-quantitative PCR. The expression was evaluated in tumor and healthy tissues according to: Tumor grade (G) of differentiation and extension, and pTNM stage, and presence/absence of recurrence. Comparisons within and between groups were performed using two-tailed Student's paired t-test and one-way ANOVA with Tukey's post hoc test. P<0.05 was considered to indicate a statistically significant difference. miR-let-7a expression in ethmoidal ITAC tissues was significantly lower than that in adjacent normal tissues (P<0.05; mean expression level ± SD, 1.452707±1.4367189 vs. 4.094017±2.7465375). miR expression varied with pT stage. miR-let-7a was downregulated (P<0.05) in advanced stages (pT3-pT4) compared with earlier stages (pT1-pT2). Furthermore, downregulation of miR-let-7a in ITAC was associated with poorly-differentiated (G3) cancer (P<0.05). No other associations were observed between miR-let-7a expression and the other clinicopathological parameters, including disease-free survival. In conclusion, downregulation of miR-let-7a in ITAC was associated with advanced-stage (pT3 and pT4) and poorly-differentiated (G3) disease, suggesting that the mutation of this gene, combined with additional genetic events, could serve a role in ITAC pathogenesis.

6.
Children (Basel) ; 11(1)2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38255407

RESUMO

OBJECTIVES: To investigate through an international survey the actual clinical application of drug-induced sleep endoscopy (DISE) in pediatric patients with obstructive sleep apnea (OSA) and to clarify the use, application, clinical indications, and protocol of pediatric DISE. METHODS: A specific survey about pediatric DISE was initially developed by five international otolaryngologists with expertise in pediatric sleep apnea and drug-induced sleep endoscopy and was later spread to experts in the field of sleep apnea, members of different OSA-related associations. RESULTS: A total of 101 participants who answered all the survey questions were considered in the study. Sixty-four sleep apnea experts, equivalent to 63.4% of interviewed experts, declared they would perform DISE in pediatric OSA patients. A total of 81.9% of responders agreed to consider the DISE as the first diagnostic step in children with persistent OSA after adenotonsillectomy surgery, whereas 55.4% disagreed with performing DISE at the same time of scheduled adenotonsillectomy surgery to identify other possible sites of collapse. In the case of young patients with residual OSA and only pharyngeal collapse during DISE, 51.8% of experts agreed with performing a velopharyngeal surgery. In this case, 27.7% disagreed and 21.4% were neutral. CONCLUSION: Pediatric DISE is internationally considered to be a safe and effective procedure for identifying sites of obstruction and collapse after adenotonsillectomy in children with residual OSA. This is also useful in cases of patients with craniofacial malformations, small tonsils, laryngomalacia or Down syndrome to identify the actual site(s) of collapse. Despite this evidence, our survey highlighted that pediatric DISE is not used in different sleep centers.

7.
Laryngoscope ; 134(3): 1437-1444, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37497872

RESUMO

OBJECTIVE: Pediatric inferior turbinate hypertrophy (PedTH) is a frequent and often overlooked cause or associated cause of nasal breathing difficulties. This clinical consensus statement (CCS) aims to provide a diagnosis and management framework covering the lack of specific guidelines for this condition and addressing the existing controversies. METHODS: A clinical consensus statement (CCS) was developed by a panel of 20 contributors from 7 different European and North American countries using the modified Delphi method. The aim of the CCS was to offer a multidisciplinary reference framework for the management of PedTH on the basis of shared clinical experience and analysis of the strongest evidence currently available. RESULTS: A systematic literature review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria was performed. From the initial 96 items identified, 7 articles were selected based on higher-evidence items such as randomized-controlled trials, guidelines, and systematic reviews. A 34-statement survey was developed, and after three rounds of voting, 2 items reached strong consensus, 17 reached consensus or near consensus, and 15 had no consensus. CONCLUSIONS: Until further prospective data are available, our CCS should provide a useful reference for PedTH management. PedTH should be considered a nasal obstructive disease not necessarily related to an adult condition but frequently associated with other nasal or craniofacial disorders. Diagnosis requires clinical examination and endoscopy, whereas rhinomanometry, nasal cytology, and questionnaires have little clinical role. Treatment choice should consider the specific indications and features of the available options, with a preference for less invasive procedures. LEVEL OF EVIDENCE: 5 Laryngoscope, 134:1437-1444, 2024.


Assuntos
Doenças Nasais , Conchas Nasais , Adulto , Humanos , Criança , Conchas Nasais/cirurgia , Endoscopia , Exame Físico , Rinomanometria , Hipertrofia/diagnóstico , Hipertrofia/terapia
8.
Otolaryngol Head Neck Surg ; 170(4): 1204-1207, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38104315

RESUMO

The barbed repositioning pharyngoplasty surgical technique is becoming more widely used for patients with obstructive sleep apnea due to its safety, effectiveness, and rapidity, as evidenced by multicenter studies and Meta-analyses. In order to achieve uniform surgical outcomes, avoid errors that could worsen outcomes, and enable adequate data comparison, a standardized procedure is required to overcome surgeon-related variability. The aim of this paper is to provide practical tips and tricks based on our surgical practice that can make the surgeon's work easier and aid in achieving desired outcomes.


Assuntos
Apneia Obstrutiva do Sono , Cirurgiões , Humanos , Faringe/cirurgia , Apneia Obstrutiva do Sono/cirurgia , Técnicas de Sutura , Cuidados Paliativos , Resultado do Tratamento
9.
J Pers Med ; 13(12)2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-38138944

RESUMO

BACKGROUND: To investigate perception, adoption, and awareness on the part of otolaryngology and head and neck surgeons (OTO-HNS) of transoral robotic surgery (TORS). METHODS: Several items assessed: awareness/perception; access to TORS; training; indications and advantages/hurdles to TORS practice. A subanalysis was performed to assess differences according to the identified otolaryngological subspecialties. RESULTS: A total of 359 people completed the survey. Among subspecialties, while for otolaryngologists 30/359 (8.4%) and H&N surgeons 100/359 (27.9%) TORS plays an effective role in hospital stay, laryngologists frequently disagreed (54.3%). There was a lower incidence among rhinologists and otologists (1.9%). Pediatric surgeons (0.8%) reported a positive response regarding the adoption of robotic surgery, and head and neck specialists expressed an even greater response (14.2%). Low adherence was related to perceived cost-prohibitive TORS, by 50% of H&N surgeons. CONCLUSIONS: Perception, adoption, and knowledge about TORS play a key role in the application of the robotic system, significantly varying across subspecialties.

10.
J Clin Med ; 12(21)2023 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-37959237

RESUMO

(1) Background: This narrative review aims to explore the predictors of success for pharyngeal surgery in the treatment of obstructive sleep apnea (OSA). An extensive literature search was conducted, identifying relevant studies published up to June 2023, utilizing various databases and key search terms related to OSA, surgical interventions, and predictors of success. The review encompasses both retrospective and prospective studies, case series, and cohort studies to provide a broad understanding of the topic; (2) Methods: Review of English scientific literature on phenotypes of OSA related to predictors of success of pharyngeal surgery; (3) Results: Of 75 articles, 21 were included, in these the following were determined to be factors for surgical success: body mass index (BMI) (8 articles), apnea/hypopnea index (AHI) (8 articles), cephalometry (8 articles), palatine tonsil size (7 articles), Modified Mallampati score (2 articles), genioglossus electromyography (2 articles), Friedman score or upper airway anatomy (3 articles), nasopharyngolaryngoscopy (2 articles), drug-induced sleep endoscopy (DISE) (1 article), oral cavity anatomy (1 article) and oxygen desaturation index (ODI) (1 article); (4) Conclusions: The lack of standardized protocols for the indication of pharyngeal surgery is a reality, however identifying known predictors of surgical success may facilitate homogenizing indications.

11.
Artigo em Inglês | MEDLINE | ID: mdl-37980605

RESUMO

PURPOSE: This study explores the potential of the Chat-Generative Pre-Trained Transformer (Chat-GPT), a Large Language Model (LLM), in assisting healthcare professionals in the diagnosis of obstructive sleep apnea (OSA). It aims to assess the agreement between Chat-GPT's responses and those of expert otolaryngologists, shedding light on the role of AI-generated content in medical decision-making. METHODS: A prospective, cross-sectional study was conducted, involving 350 otolaryngologists from 25 countries who responded to a specialized OSA survey. Chat-GPT was tasked with providing answers to the same survey questions. Responses were assessed by both super-experts and statistically analyzed for agreement. RESULTS: The study revealed that Chat-GPT and expert responses shared a common answer in over 75% of cases for individual questions. However, the overall consensus was achieved in only four questions. Super-expert assessments showed a moderate agreement level, with Chat-GPT scoring slightly lower than experts. Statistically, Chat-GPT's responses differed significantly from experts' opinions (p = 0.0009). Sub-analysis revealed areas of improvement for Chat-GPT, particularly in questions where super-experts rated its responses lower than expert consensus. CONCLUSIONS: Chat-GPT demonstrates potential as a valuable resource for OSA diagnosis, especially where access to specialists is limited. The study emphasizes the importance of AI-human collaboration, with Chat-GPT serving as a complementary tool rather than a replacement for medical professionals. This research contributes to the discourse in otolaryngology and encourages further exploration of AI-driven healthcare applications. While Chat-GPT exhibits a commendable level of consensus with expert responses, ongoing refinements in AI-based healthcare tools hold significant promise for the future of medicine, addressing the underdiagnosis and undertreatment of OSA and improving patient outcomes.

12.
Curr Issues Mol Biol ; 45(11): 8950-8973, 2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-37998739

RESUMO

NGF plays a crucial immunomodulatory role and increased levels are found in numerous tissues during autoimmune states. NGF directly modulates innate and adaptive immune responses of B and T cells and causes the release of neuropeptides and neurotransmitters controlling the immune system activation in inflamed tissues. Evidence suggests that NGF is involved in the pathogenesis of numerous immune diseases including autoimmune thyroiditis, chronic arthritis, multiple sclerosis, systemic lupus erythematosus, mastocytosis, and chronic granulomatous disease. Furthermore, as NGF levels have been linked to disease severity, it could be considered an optimal early biomarker to identify therapeutic approach efficacy. In conclusion, by gaining insights into how these molecules function and which cells they interact with, future studies can devise targeted therapies to address various neurological, immunological, and other disorders more effectively. This knowledge may pave the way for innovative treatments based on NGF manipulation aimed at improving the quality of life for individuals affected by diseases involving neurotrophins.

14.
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. [...].

15.
Medicina (Kaunas) ; 59(7)2023 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-37512129

RESUMO

Background and Objectives: This study aimed to assess the comparative effectiveness of continuous positive airway pressure (CPAP) therapy and sildenafil pharmacological therapy in improving sexual function among patients with obstructive sleep apnea (OSA) and erectile dysfunction (ED). Materials and methods: Population: Patients affected by OSA and ED; Intervention: CPAP therapy vs. Comparison: Sildenafil pharmacological therapy; Outcomes: Improvement in erectile function, as measured by the International Index of Erectile Function 5 (IIEF-5) scoring system; Time: A systematic review of the literature from the past 20 years; Study Design: Observational studies comparing erectile function improvements after OSA treatment. Results: A total of eight papers were included in the qualitative summary, involving four hundred fifty-seven patients with ED and OSA. Erectile function improvements were observed in both treatment groups. After sildenafil and CPAP treatment, the mean IIEF-5 domain scores were 37.7 and 27.3, respectively (p < 0.001). Sildenafil 100 mg demonstrated a higher therapeutic impact compared to CPAP treatment. Conclusions: CPAP therapy significantly improved sexual parameters in most studies for OSA patients with ED. The findings suggest that CPAP therapy effectively alleviates erectile dysfunction symptoms, resulting in improved sexual performance in OSA patients. The comparison of the two treatments indicates that sildenafil has a more substantial therapeutic impact on erectile function than CPAP therapy; however, a combined treatment will provide a cumulative effect.


Assuntos
Disfunção Erétil , Disfunções Sexuais Fisiológicas , Apneia Obstrutiva do Sono , Masculino , Humanos , Citrato de Sildenafila/uso terapêutico , Disfunção Erétil/tratamento farmacológico , Pressão Positiva Contínua nas Vias Aéreas/métodos , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/tratamento farmacológico
16.
J Clin Med ; 12(13)2023 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-37445208

RESUMO

(1) Background: Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder and is characterized by recurrent episodes of complete or partial obstruction of the upper airway, leading to reduced or absent breathing during sleep. A nocturnal upper airway collapse is often multi-levelled. The aim of this communication is to describe a 3D multi-level surgery setting in OSA pathology, introducing new surgical approaches, such as 4K-3D endoscopic visualization for the tongue base approach with the aid of a coblator and exoscopic visualization in the palatal approach. (2) Methods: Seven patients affected by OSA underwent 3D Barbed Reposition Pharyngoplasty (BRP) surgery associated with transoral coblation tongue base reduction and nose surgery. (3) Results: No patients experienced intra-operative, post-operative or delayed complications. For OSA multi-level 3D surgery, it took less than 2 h: the median 3D system setting time was 12.5 ± 2.3 min; the overall procedure time was 59.3 ± 26 min. (4) Conclusions: The use of the 4K-3D endoscope and coblator for tongue base resectioning and of the 3D exoscope for lateral pharyngoplasty represents an excellent system in multi-level OSA related surgery that could reduce the time and the costs compared to those of robotic surgery.

17.
Eur Arch Otorhinolaryngol ; 280(10): 4339-4349, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37493842

RESUMO

INTRODUCTION: Adenoid hypertrophy is one of the main causes of nasal obstruction in 'children. Adenoid hypertrophy can be approached either with nasal corticosteroids, or surgically when medical treatment fails. Different adenoidectomy techniques have been proposed to reduce morbidity and surgical risks, with a consequent marked increase in the use of new surgical procedures in recent years, with a progressive increase in the use of coblation. This state-of-the-art review aims to systematically review the current literature on the role of coblation in adenoidectomy. METHODS: The selection criteria included children submitted to adenoidectomy with coblator vs other techniques. 11 research questions were defined. 4 databases were explored by four authors: PubMed (Medline), the Cochrane Library, EMBASE and SciELO. The level of evidence and quality of the selected articles were assessed according to assessed according to the Quality Assessment Checklist of the National Institute for Health and Clinical Excellence. RESULTS: 20 studies met the inclusion criteria: 2 metanalysis, 12 randomized clinical trial, 2 non-randomized clinical trial, 1 prospective cohort study, and 3 retrospective cohort study. It encompassed a total population of 8375 participants. Regarding the different surgical techniques, 18 studies (excluding metanalysis) performed coblation (n = 1550), 6 microdebridement (n = 883), 15 curettage (n = 4016), and 1 suction coagulation (n = 1926). CONCLUSION: Coblator adenoidectomy appears to offer better adenoid control compared to curettage, with a possible, although not confirmed lower rate of revision surgery. Similarly, this greater resection of adenoid tissue seems to be related to a greater reduction of nasal obstruction. The advantages of this technique are mainly less surgical bleeding-although it is not clear this is a clinically relevant difference, and less postoperative pain compared to cold curettage. The difference in pain is small, as adenoidectomy is not a painful surgery in general. There is little evidence on the control of OME and comparison with other techniques such as microdebrider adenoidectomy.


Assuntos
Tonsila Faríngea , Obstrução Nasal , Criança , Humanos , Adenoidectomia/métodos , Obstrução Nasal/etiologia , Obstrução Nasal/cirurgia , Estudos Prospectivos , Estudos Retrospectivos , Tonsila Faríngea/cirurgia , Dor Pós-Operatória , Hipertrofia/cirurgia
18.
J Int Adv Otol ; 19(3): 248-254, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37272644

RESUMO

The aim of our study was to report rates of facial nerve palsy and residual tumor following surgical intervention and subsequent tumor recurrence in patients with endolymphatic sac tumors. A systematic literature review of preoperative assessment and surgical management is also included. Studies including patient/s affected by sporadic or von Hippel-Lindau disease related endolymphatic sac tumors, reporting levels of facial nerve function, residual and recurrence pathology following a surgical procedure, were considered. Data were combined for proportional meta-analysis, and the selected studies' methodological quality was also evaluated. Overall 34 papers, including 202 subjects (209 cases of endolymphatic sac tumors) were analyzed. Pooled proportion rate (95% CI) of overall facial nerve palsy was 39.7% (28.2-51.9) and residual tumor was 16.5% (10.3-23.7) after surgical procedure. Pooled proportion rate (95% CI) of tumor recurrence was 14.0% (9.7-19.3) during a mean follow-up period of 49.7 months (8-136). Our results showed that preoperative facial nerve function is impaired in almost 30% of patients with endolymphatic sac tumors. Surgical management of endolymphatic sac tumor may cause a worsening of facial nerve function in a low percentage of treated subjects. Residual and/or recurrence of endolymphatic sac tumors are not rare events, and follow-up strategies should be designed accordingly.


Assuntos
Neoplasias Ósseas , Neoplasias da Orelha , Saco Endolinfático , Paralisia Facial , Doença de von Hippel-Lindau , Humanos , Saco Endolinfático/cirurgia , Recidiva Local de Neoplasia/cirurgia , Neoplasia Residual/patologia , Neoplasias da Orelha/cirurgia , Neoplasias da Orelha/patologia , Neoplasias Ósseas/patologia
19.
Indian J Otolaryngol Head Neck Surg ; 75(2): 842-847, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37275059

RESUMO

Trans Oral Robotic Surgery (TORS) is a modality in the management of oropharyngeal squamous cell carcinoma(OPSCC). This study was conducted to show the rates of peri-operative complications after TORS for OPSCC in our experience. Single centre retrospective analysis of consecutive OPSCC treated with TORS. The surgical complication severity was recorded according to Clavien-Dindo criteria (CDC). Eighty-seven OPSCC were operated with TORS. According to CDC, grade I, grade II and IIIb were registered in 8%, 4.6% and 11.5% of cases, respectively. The postoperative pain, registered with visual-analogue scale (VAS) score, was 8 ± 1.2 for the secondary healing wounds and 6.2 ± 1.5 for the flap reconstructions (p < 0.01). The impact on swallowing function was not significant between secondary healing and flap reconstructions(p = 0.96). Any major or life-threatening intraoperative complications have not been recorded. Only one patient had postoperative bleeding into the neck whilst 13.3% of patients had postoperative bleeding from the primary tumor. No total local or free flap failure were registered. The mean duration of tracheostomy use was 7.4 ± 2.6 days, and nasogastric tube 14.3 ± 6.9 days. Only one patient, who had also reconstruction with flap, experienced a postoperative severe dysphagia with severe aspiration, needing a permanent tracheostomy tube and percutaneous endoscopic gastrostomy feeding. TORS for OPSCC showed less morbidity, lower risk of severe complication and mortality. Thus, this treatment modality could be offered as first line treatment in selected cases.

20.
Biomedicines ; 11(6)2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37371710

RESUMO

Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (MYO6 gene), DFNA8/12 (TECTA gene), DFNA20/26 (ACTG1 gene), DFNA6/14/38 (WFS1 gene), DFNA15 (POU4F3 gene), DFNA2A (KCNQ4 gene), and DFNA10 (EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (DIAPH1 gene) and DFNA6/14/38 (WFS1 gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.

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