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PURPOSE: As online health information-seeking surges, concerns mount over the quality and safety of accessible content, potentially leading to patient harm through misinformation. On one hand, the emergence of Artificial Intelligence (AI) in healthcare could prevent it; on the other hand, questions raise regarding the quality and safety of the medical information provided. As laryngeal cancer is a prevalent head and neck malignancy, this study aims to evaluate the utility and safety of three large language models (LLMs) as sources of patient information about laryngeal cancer. METHODS: A cross-sectional study was conducted using three LLMs (ChatGPT 3.5, ChatGPT 4.0, and Bard). A questionnaire comprising 36 inquiries about laryngeal cancer was categorised into diagnosis (11 questions), treatment (9 questions), novelties and upcoming treatments (4 questions), controversies (8 questions), and sources of information (4 questions). The population of reviewers consisted of 3 groups, including ENT specialists, junior physicians, and non-medicals, who graded the responses. Each physician evaluated each question twice for each model, while non-medicals only once. Everyone was blinded to the model type, and the question order was shuffled. Outcome evaluations were based on a safety score (1-3) and a Global Quality Score (GQS, 1-5). Results were compared between LLMs. The study included iterative assessments and statistical validations. RESULTS: Analysis revealed that ChatGPT 3.5 scored highest in both safety (mean: 2.70) and GQS (mean: 3.95). ChatGPT 4.0 and Bard had lower safety scores of 2.56 and 2.42, respectively, with corresponding quality scores of 3.65 and 3.38. Inter-rater reliability was consistent, with less than 3% discrepancy. About 4.2% of responses fell into the lowest safety category (1), particularly in the novelty category. Non-medical reviewers' quality assessments correlated moderately (r = 0.67) with response length. CONCLUSIONS: LLMs can be valuable resources for patients seeking information on laryngeal cancer. ChatGPT 3.5 provided the most reliable and safe responses among the models evaluated.
Subject(s)
Artificial Intelligence , Laryngeal Neoplasms , Humans , Cross-Sectional Studies , Laryngeal Neoplasms/therapy , Surveys and Questionnaires , Reproducibility of Results , Trust , Consumer Health Information/standardsABSTRACT
The objective of the study was to analyse and present the surgical management strategy for major skin flap complications (MSFC) after cochlear implantations. Patients fitted with a titanium-silicone-coated implant of the same kind, operated on between 1994 and 2013 with a standardised procedure (1076 medical charts) were analysed. Analysis aimed to identify and study individuals with skin problems related to the cochlear implant treatment, i.e. requiring surgical treatment in hospital defined as MSFC and focused on incidence, risk factors and treatment of MSFC. MSFC were diagnosed in 1.76 % of patients: 2.06 % of children and 1.35 % of adults, 2.43 % after implantation with a long "C"-shaped incision and 1.28 % after short retroauricular incision. Registered risk factors included head trauma, acute otitis media, poor hygiene in children, and general comorbidities in adults. The primary intervention was dependent on skin complication severity and included revision surgery with wound closure over an implant (52.6 %) and revision surgery with explantation (47.4 %). Revision surgery without explantation was successful in 40 % and the most effective approach was debridement with a two-layer rotational flap. Explantation led to ultimate wound healing in all cases. Major skin flap complications after cochlear implantation are rare, but their treatment is complex and difficult. Revision surgery with resection of infected tissue, formation of a rotational two-layer flap preceded and supplemented by intensive targeted antibiotic therapy can be effective and should be the first treatment option. Spontaneous implant explantation, abscess formation or unsuccessful primary treatment necessitate implant removal as the ultimate solution.
Subject(s)
Cochlear Implantation , Surgical Flaps/adverse effects , Adolescent , Adult , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Child , Child, Preschool , Cochlear Implants , Comorbidity , Craniocerebral Trauma/epidemiology , Debridement , Female , Humans , Hygiene , Infant , Male , Middle Aged , Otitis Media/epidemiology , Poland/epidemiology , Postoperative Complications , Reoperation , Retrospective Studies , Risk Factors , Young AdultABSTRACT
Bone-anchored hearing aids are well-established solutions for treatment of hearing-impaired patients. However, classical systems with percutaneous abutments have disadvantages concerning aesthetics, hygiene and adverse soft tissue reactions. The study aimed to evaluate surgical, functional and audiological results of a new Baha(®) Attract system, in which the sound processor is attached by magnetic force. Twenty patients implanted with a Baha(®) Attract system were divided into two groups: A-bilateral mixed and conductive hearing loss, B-single-sided deafness, and evaluated during a 6-month follow-up. Parameters analysed comprised: (1) surgery and wound healing, (2) postoperative functional results (GBI, APHAB and BAHU questionnaires), (3) audiological results (free field speech in noise audiometry in two situations: with signal from implant side and from contralateral side). Obtained results revealed: mean time of surgery-44 min, soft tissue reduction-30 %, bone polishing-20 %, haematoma-10 %. Functional results showed: GBI total score-29.6 points, APHAB global score mean gain-23.5 %, BAHU 'good or very good' score for: aesthetic-85 %, hygiene-100 %, ease of placing the processor-100 %, stability of attraction-75 %. Audiological results-mean gain for the two analysed situations: 32.9 % (group A-36.5 %, group B-27.5 %). To conclude, the data obtained prove the safety and effectiveness of the Baha(®) Attract system in patients with conductive and mixed hearing loss as well as in patients with single-sided deafness. Cosmetic aspects are highly acceptable and the idea of Attract itself is important for patients with limited manual dexterity.
Subject(s)
Cochlear Implants , Hearing Loss/therapy , Adult , Aged , Audiometry , Bone Conduction/physiology , Cochlear Implantation , Cohort Studies , Female , Hearing Loss/diagnosis , Hearing Loss/physiopathology , Humans , Male , Middle Aged , Surveys and Questionnaires , Treatment OutcomeABSTRACT
<b><br>Introduction:</b> Isolated frontal bone fractures constitute 5-15% of traumatic facial fractures cases, with frontal sinus fractures categorized into anterior wall, posterior wall, or complex fractures. The approach is tailored to fracture type and bone fragment displacement. This paper presents the summary of surgical management in patients with isolated and complex fractures of the anterior wall of the frontal sinus.</br> <b><br>Material and Methods:</b> Five patients with different frontal sinus fractures were treated surgically. The same management protocol - diagnosis and surgical intervention was implemented in all cases The retrospective analysis included fracture assessment, surgical approach, and long-term outcomes evaluation.</br> <b><br>Results:</b> The most common cause of fractures was falls, while two complex fractures involved the anterior and posterior walls. External approach, bone fragment removal, endoscopy, and external stabilization were employed in all cases. One patent required delayed revision surgery due to retaining metallic foreign body. Follow-up radiological examinations showed proper healing and cosmetic outcomes were satisfactory in all of the cases.</br> <b><br>Conclusion:</b> Surgical management of isolated fractures of the frontal sinus anterior wall, involving bone fragment removal, realignment, and endoscopy, yielded satisfactory functional and cosmetic outcomes without internal or external stabilization. Long-term monitoring and symptom assessment are crucial, especially in cases with penetrating injuries and foreign body risk.</br>.
Subject(s)
Foreign Bodies , Frontal Sinus , Skull Fractures , Humans , Frontal Sinus/diagnostic imaging , Frontal Sinus/surgery , Frontal Sinus/injuries , Retrospective Studies , Tomography, X-Ray Computed , Skull Fractures/diagnostic imaging , Skull Fractures/surgery , Skull Fractures/etiologyABSTRACT
<b><br>Introduction:</b> In an era of wide accessibility to various systems for hearing impairment prosthetics, there exists a broad spectrum of surgical techniques facilitating system implantation.</br> <b><br>Aim:</b> The aim of the study is to present the technique of vertical incision in the implantation of the Baha Attract magnetic system as an alternative incision, maintaining a compromise between optimizing the surgical procedure and preserving the functionality and quality of life of the patient.</br> <b><br>Materials and methods:</b> The vertical incision technique is presented based on 5 patients treated between December 2022 and March 2023 diagnosed with conductive or mixed hearing loss.</br> <b><br>Results:</b> There were no adverse consequences or complications resulting from the performed surgical incision. All patients experienced uncomplicated healing. Patients are using sound processor magnets ranging from 4-5 in strength and Baha<sup></sup> 6 Max sound processors weighing 11.5 g.</br> <b><br>Conclusions:</b> The vertical incision technique serves as an alternative to the C-shaped perimeter incision, allowing for the optimization and standardization of the surgical procedure, resulting in a smooth scar formation and maintaining good audiological and aesthetic outcomes.</br>.
Subject(s)
Hearing Aids , Humans , Female , Male , Adult , Hearing Loss, Conductive/surgery , Middle Aged , Prosthesis Implantation/methods , Treatment OutcomeABSTRACT
We present a patient who suffered a temporal bone fracture (TBF) encompassing the bony labyrinth. Sensorineural hearing loss was confirmed with an unfavorable prognosis for recovery. Thirteen years later, there is regression of the hearing loss.
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In this article we present the novel spectroscopy method supported with machine learning for real-time detection of infectious agents in wastewater. In the case of infectious diseases, wastewater monitoring can be used to detect the presence of inflammation biomarkers, such as the proposed C-reactive protein, for monitoring inflammatory conditions and mass screening during epidemics for early detection in communities of concern, such as hospitals, schools, and so on. The proposed spectroscopy method supported with machine learning for real-time detection of infectious agents will eliminate the need for time-consuming processes, which contribute to reducing costs. The spectra in range 220-750 nm were used for the study. We achieve accuracy of our prediction model up to 68% with using only absorption spectrophotometer and machine learning. The use of such a set makes the method universal, due to the possibility of using many different detectors.
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<b>Introduction:</b> Auditory scene analysis refers to the system through which the auditory system distinguishes distinct auditory events and sources to create meaningful auditory information. The exact number of directly perceived auditory stimuli is unknown, studies suggest it may range from 3 to 5. This number differs among individuals, and potentially may indirectly indicate the ability to store and process the complex information, related to the memory load, which is combined with human cognitive processes.<b>Aim:</b> This study aims to further identify and quantify the number of sounds that can be perceived simultaneously in a complex auditory environment.<b>Material and methods:</b> Participants were presented with structured acoustic recordings and were asked to identify the exact number of targeted stimuli heard throughout the test. The experiment was designed to assess the auditory load and determine the maximum number of auditory stimuli that a healthy human can perceive at once.<b>Results:</b> Our study showed that on average, participants could identify up to three sounds at once with accuracy of responses declining progressively for four sounds or more.<b>Conclusions:</b> This study aimed to investigate the human capacity to detect and identify multiple sound signals simultaneously in a noisy environment. By understanding this ability, we sought to assess cognitive reserve in individuals. Our objective was to determine if auditory load could serve as a diagnostic tool for cognitive evaluation. We believe that further research will establish the validity of this approach, and we anticipate that it is only a matter of time before it becomes a viable method for assessing cognitive function.
Subject(s)
Auditory Perception , Cognitive Reserve , Humans , Auditory Perception/physiology , Female , Male , Adult , Cognitive Reserve/physiology , Young Adult , Acoustic Stimulation/methods , Memory/physiologyABSTRACT
The objective of the paper is to evaluate the hearing preservation rate in patients with high frequency hearing loss, treated with Cochlear Nucleus Freedom Hybrid-L implant in the Otolaryngology Department, Poznan University of Medical Sciences in Poland. Study was designed as the retrospective analysis. Twenty-one patients were operated and implanted with Nucleus Freedom Hybrid-L implant. Pure tone thresholds were recorded prior to the surgery and at the time of speech processor switch-on. Patients were subdivided into two groups with respect to their PTA thresholds: group A-classic indications and group B-extended indications. Average PTA for three frequencies (250, 500, 1,000 Hz) were calculated for each patient pre- and postoperatively. In the group of 21 implanted patients in 17 cases we have observed preservation of hearing (12 patients from group A, 5 patients from group B) with a mean value of 13.1 dB. In 4 out of 21 patients deafness on the implanted ear was noted. Our results clearly indicate that with standard procedure hearing preservation can be obtained in majority of patients. Hearing preservation was not achieved in 19 %, but owing to design of the electrode of the Cochlear Nucleus Hybrid-L that enables to work as CI platform alone, in patients who lost their hearing after surgery re-implantations were not required. This proves that EAS is a safe and reliable method to help patients with specific type of hearing loss.
Subject(s)
Cochlear Implantation/methods , Hearing Aids , Hearing Loss/surgery , Adolescent , Adult , Aged , Audiometry, Pure-Tone , Auditory Threshold , Cochlear Implants , Electrodes, Implanted , Female , Humans , Male , Middle Aged , Poland , Retrospective Studies , Speech Perception , Treatment Outcome , Young AdultABSTRACT
The most common cause of cerebrospinal fluid (CSF) rhinorrhoea is damage to the skull base with a dura mater's rupture due to an accident or an iatrogenic injury. This applies to over 96% of cases. Other possibilities that can lead to CSF leakage are neoplasms of the nasal cavity, paranasal sinuses, and nasopharynx. Although prostate cancer spreads to bones, cranial metastases to paranasal sinuses are extremely rare. We present a case of an 83-year-old patient with CSF leakage due to infiltrating metastatic prostate cancer. Cerebrospinal fluid rhinorrhea turned out to be the first symptom of prostate cancer metastasis. Diagnostic and treatment strategies are presented in the discussion.
Subject(s)
Adenocarcinoma , Cerebrospinal Fluid Rhinorrhea , Prostatic Neoplasms , Male , Humans , Aged, 80 and over , Cerebrospinal Fluid Rhinorrhea/etiology , Cerebrospinal Fluid Rhinorrhea/diagnosis , Prostate , Skull Base , Cerebrospinal Fluid Leak , Prostatic Neoplasms/complications , Adenocarcinoma/complicationsABSTRACT
BACKGROUND: The semi-implantable bone conduction devices connect the skull to the hearing device by means of an implant. This implant affords us 3 possible methods for conducting bone conduction evaluation, which may produce a different result for the same patient, and comparisons of results from different centers may therefore be interpreted incorrectly. Thus, the authors attempt to quantify the audiometric differences between the obtained auditory results and to check whether the results of standard pure tone audiometry could be replaced with the results obtained by alternative measurement methods. METHODS: Measurements were conducted in a group of 53 adult patients implanted with bone conduction devices in 3 modes: bone conduction-direct, when the bone conduction device itself is used to assess the audiometric threshold; bone conduction-pure tone audiometry with audiometric oscillator placed over mastoid aside of an implant; and bone conduction-indirect with oscillator placed on an implant. RESULTS: The analysis revealed differences between obtained results, which can reach up to 21.48 dB with a mean of 10 dB across all frequencies. The lowest values, regardless of the type of implant connection ("magnetic"; "snap"), were recorded for bone conduction-indirect mode whereas the highest mean all-frequency thresholds were recorded in the mode defined as bone conduction-direct. CONCLUSION: The method that provides the most comparable thresholds is when the oscillator is positioned on the mastoid, aside from an implant. It should be the method of choice for any hearing evaluation in patients fitted with bone conduction devices, because of standardized equipment and the availability of preoperative data obtained with the same method.
Subject(s)
Bone Conduction , Hearing Aids , Adult , Humans , Audiometry, Pure-Tone , Mastoid , Head , Auditory ThresholdABSTRACT
<b><br>Aim:</b> The aim of the study was to assess if wearing a face mask, hung from the ears, had an effect on the understanding of speech and the perception of surrounding sounds.</br> <b><br>Materials and Methods:</b> Assessment of auditory perception using verbal noise audiometry in two clinical conditions; without a face mask and with a face mask. To assess the auditory perception ability, two parameters were measured; word recognition score (WRS) and sound intensity at maximal WRS.</br> <b><br>Results:</b> Without wearing facial masks, the maximum values of WRS for the study group ranged from 75% to 100% with 52% of respondents achieved WRS 100%. While wearing face masks, the highest calculated WRS for the study group ranged from 80% to 100%, with 32% of individuals achieved WRS of 100%.</br> <b><br>Conclusion:</b> The wearing of face masks do not change the speech recognition scores. This may indicate a stronger role of psycho-sociological aspects of hearing difficulties during the Covid-19 pandemic.</br>.
Subject(s)
Masks , Pandemics , Humans , Hearing , Auditory Perception , Personal Protective EquipmentABSTRACT
AIM OF THE STUDY: To compare safety, reliability and usefulness of two deafening protocols on animal mouse model, based on aminoglycosides exposure MATERIAL AND METHOD: Adults mice, Bulb/C, deafened with kanamycine 14 days treatment (group I), single kanamycin injection followed by etacrinic acid administration (group II) and control group. Hearing evaluation performed with ABR recordings on 6th day after drug exposure RESULTS: Both protocols were not able to guarantee complete ablation of the inner ear in tested animals. Although short deafening strategy was more effective (83.33% deaf mice) it was combined with high rate of mortality during general anesthesia for hearing evaluation. CONCLUSIONS: Variable outcomes in deafening mouse animal model implies the necessity of hearing evaluation every time prior to the pathophysiological as well as molecular studies. Mice exposed to severe oto- and nephrotoxic insult do not recover after anesthetic drug administration, thus harvesting inner ear tissues especially as the source of RNA should be performed immediately after ABR recordings.
Subject(s)
Deafness/chemically induced , Disease Models, Animal , Ethacrynic Acid , Kanamycin , Acoustic Stimulation , Animals , Auditory Threshold , Cochlea/pathology , Deafness/pathology , Ear, Inner/pathology , Male , Mice , Mice, Inbred C57BLABSTRACT
As interest in AI in medicine grows, so too does the need for education on the topic. Despite the technology itself being so close, our understanding of the essence of how it works remains remote. A greater, more judicious acceptance of AI tools can be fostered in medicine by a broader appreciation of what the technology can and cannot do.
Subject(s)
Artificial Intelligence , HumansABSTRACT
Mutations in mitochondrial DNA have been implicated in both, non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed the systematic mutation screening of the COI/tRNA(Ser(UCN)) genes in 250 unrelated Polish subjects with hearing impairment. Three different homoplasmic sequence variants were identified, including one common polymorphism m.7476 C>T in tRNA(Ser(UCN)) and two mutations, m.7444 G>A and m.7445 A>G localized in the COI/precursor of tRNA(Ser(UCN)). The incidence of m.7444 G>A substitution was estimated at 1.6% (4/250), however variable penetrance of hearing loss, age of onset and hearing thresholds among m.7444 G>A carriers was observed. Two subjects had the positive history of aminoglycoside exposure and one of them harbored both m.7444 G>A and 12S rRNA m.1555 A>G mutations. Those suggest that m.7444 G>A itself is not sufficient to produce a clinical phenotype and additional modifier factors are required for pathogenic manifestation of m.7444 G>A substitution. Moreover, we have described the first Polish family with non-syndromic hearing loss, harboring m.7445 A>G mutation. The penetrance of hearing loss in this pedigree was 58% when aminoglycoside-induced hearing impairment was included, and 8% when ototoxic effect was excluded. This finding strongly suggests the possible role of m.7445 A>G in susceptibility to aminoglycoside induced-hearing loss.
Subject(s)
Aminoglycosides/adverse effects , Electron Transport Complex IV/genetics , Hearing Loss, Sensorineural/chemically induced , Hearing Loss, Sensorineural/genetics , Mitochondria/enzymology , Mutation/genetics , RNA, Transfer, Ser/genetics , Audiometry , Base Sequence , Child , Child, Preschool , DNA Mutational Analysis , DNA, Mitochondrial/genetics , Female , Humans , Infant , Male , Mitochondria/genetics , Molecular Sequence Data , Pedigree , PolandABSTRACT
OBJECTIVE: To establish the extent to which sound amplitudes delivered by a vibrating tuning fork change around its long axis and to evaluate whether such differences in amplitude might change the results of the Rinne test. STUDY DESIGN: Experimental measurements. SETTING: Laboratory setting. METHODS: Setup I: a vibrating tuning fork was handheld and manually rotated around its long axis next to a sound recording device (the simulated ear) in order to record sound amplitude data at a full range of angles relative to the device; files were split into segments in which sound amplitude changed: A (from a maximum to a minimum) and B (from a minimum to a maximum). Setup II: a vibrating tuning fork was machine-rotated, and the angle of rotation, along with the sound amplitude, was automatically recorded through a single full rotation. RESULTS: The angles of 0° and 180° (which equate to the established best practice in Rinne testing) were associated with the highest sound amplitudes. All other angles decreased sound amplitude. The greatest decrease in amplitude was recorded at 51° and 130°. This difference ranged from 9.8 to 34.7 dB, depending on the initial amplitude. CONCLUSION: The outcome of a Rinne test can be affected if attention is not paid to the precise angle at which the tuning fork is held relative to the ear. The potential of this effect will be greater when high background noise or patient hearing loss requires that the tuning fork be vigorously excited to obtain high sound amplitudes.
ABSTRACT
Due to the increasing popularity of tattoos among the general population, to ensure their safety and quality, there is a need to develop reliable and rapid methods for the analysis of the composition of tattoo inks, both in the ink itself and in already existing tattoos. This paper presents the possibility of using Raman spectroscopy to examine tattoo inks in biological materials. We have developed optical tissue phantoms mimicking the optical scattering coefficient typical for human dermis as a substitute for an in vivo study. The material employed herein allows for mimicking the tattoo-making procedure. We investigated the effect of the scattering coefficient of the matrix in which the ink is located, as well as its chemical compositions on the spectra. Raman surface line scanning has been carried out for each ink in the skin phantom to establish the spatial gradient of ink concentration distribution. This ensures the ability to detect miniature concentrations for a tattoo margin assessment. An analysis and comparison of the spectra of the inks and the tattooed inks in the phantoms are presented. We recommend the utilization of Raman spectroscopy as a screening method to enforce the tattoo ink safety legislations as well as an early medical diagnostic screening tool.
ABSTRACT
Non-invasive measurement methods offer great benefits in the field of medical diagnostics with molecular-specific techniques such as Raman spectroscopy which is increasingly being used for quantitative measurements of tissue biochemistry in vivo. However, some important challenges still remain for label-free optical spectroscopy to be incorporated into the clinical laboratory for routine testing. In particular, non-analyte-specific variations in tissue properties introduce significant variability of the spectra, thereby preventing reliable calibration. For measurements of blood analytes such as glucose, we propose to decrease the interference from individual tissue characteristics by exploiting the known dynamics of the blood-tissue matrix. We reason that by leveraging the natural blood pulse rhythm, the signals from the blood analytes can be enhanced while those from the static components can be effectively suppressed. Here, time-resolved measurements with subsequent pulse frequency estimation and phase-sensitive detection are proposed to recover the Raman spectra correlated with the dynamic changes at blood-pulse frequency. Pilot in vivo study results are presented to establish the benefits as well as outline the challenges of the proposed method in terms of instrumentation and signal processing.
Subject(s)
Biosensing Techniques , Spectrum Analysis, Raman , CalibrationABSTRACT
The growing human impact on aquatic environments deriving from the extensive use of pharmaceuticals and the release of persistent pollutants necessitates the implementation of new, widespread methods for characterising and quantifying such contaminants and their related degradation products. Carbamazepine, 5 H-dibenzo[b,f]azepine-5-carboxamide, (CBZ) is a widely used anti-epileptic drug characterised by limited removal by conventional wastewater treatments and high persistency in the environment. In this work, CBZ detection and quantification was performed in phosphate buffer, as well as in samples of complex matrix-like landfill leachates and treated wastewater originating from a medical facility, and simultaneously by optical and electrochemical methods using a novel transparent carbon-based nanostructured electrode. Coupling electrochemical (differential pulse voltammetry) with optical (UV-visible spectroscopy) methods, it has been possible to reach the limit of detection (LOD) for CBZ at the levels of 4.7 µM for the electrochemical method, 10.3 µM for the spectroscopic method, and 3.6 µM for the opto-electrochemical method. Raman spectroscopy and ultra-high performance liquid chromatography coupled with tandem mass spectrometry techniques were employed to support and validate the combined technique. The novel developed technique showed high selectivity to carbamazepine and its by-products, even in environmental samples. Thus, this environmentally friendly, fast and accurate detection method is believed to be successfully implementable in investigating other pharmaceutical and chemical contaminates of concern.
Subject(s)
Water Pollutants, Chemical , Water Purification , Carbamazepine/analysis , Humans , Oxidation-Reduction , Wastewater , Water Pollutants, Chemical/analysisABSTRACT
Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire 12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two 12S rRNA sequence variants: m.988 G>A and m.1453 A>G, localized at conserved sites and affected RNA secondary structure, may be new candidates for non-syndromic and aminoglycoside-induced hearing loss associated mutations.