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INTRODUCTION: In recent years, the evaluation of potential events related to olfactory events (OERPs) and trigeminal events (TERPs) has become increasingly important in the diagnosis of olfactory disorders. This technique is increasingly used in basic research and clinical practice to evaluate people suffering from olfactory disorders. PURPOSE OF THE STUDY: In a pilot project of the first investigations of OERPs and TERPs in the Czech Republic, we analyse the event-related potentials of the data of normosmic participants. METHODS: In the prospective study, 21 normosmic participants were enrolled for a 2-year period (5/2021-5/2023). OERPs/TERPs were recorded at the scalp vertex (electrode Pz/Cz). Odourants 2-phenylethanol/CO2 were used to selectively activate Nervus olfactorius/ Nervus trigeminus. Brain responses to olfactory/trigeminal stimuli (EEG) were recorded in 21/18 normosmic subjects. RESULTS: In the statistical analysis of the olfactory interval N1-P2 (age, gender), we found no statistically significant differences. In the statistical analysis of the trigeminal interval N1-P2 (age, gender) we found statistically significant differences in amplitude by gender (male amplitudes were higher than female amplitudes, p = 0.006). CONCLUSION: Our pilot data can function very well as an internal guide for ongoing and future olfactory research studies. Evaluation of the presence of OERPs appears to be an important parameter for the evaluation of olfactory disorders. The absence of OERPs is a strong indicator of the presence of olfactory dysfunction.
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Transtornos do Olfato , Olfato , Humanos , Masculino , Feminino , Olfato/fisiologia , Projetos Piloto , Estudos Prospectivos , República Tcheca , Potenciais Evocados/fisiologia , Transtornos do Olfato/diagnósticoRESUMO
Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes. The importance of characterizing RET fusion-positive tumors has recently increased due to the possibility of targeted treatment. The aim of this study was to identify RET fusion-positive thyroid tumors, correlate them with clinicopathological features, compare them with other mutated carcinomas, and evaluate long-term follow-up of patients. The cohort consisted of 1564 different thyroid tissue samples (including 1164 thyroid carcinoma samples) from pediatric and adult patients. Samples were analyzed for known driver mutations occurring in thyroid cancer. Negative samples were subjected to extensive RET fusion gene analyses using next-generation sequencing and real-time PCR. RET fusion genes were not detected in any low-risk neoplasm or benign thyroid tissue and were detected only in papillary thyroid carcinomas (PTCs), in 113/993 (11.4%) patients, three times more frequently in pediatric and adolescent patients (29.8%) than in adult patients (8.7%). A total of 20 types of RET fusions were identified. RET fusion-positive carcinomas were associated with aggressive tumor behavior, including high rates of lymph node (75.2%) and distant metastases (18.6%), significantly higher than in NTRK fusion, BRAF V600E and RAS-positive carcinomas. Local and distant metastases were also frequently found in patients with microcarcinomas positive for the RET fusions. 'True recurrences' occurred rarely (2.4%) and only in adult patients. The 2-, 5-, 10-year disease-specific survival rates were 99%, 96%, and 95%, respectively. RET fusion-positive carcinomas were associated with high invasiveness and metastatic activity, but probably due to intensive treatment with low patient mortality.
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Carcinoma , Neoplasias da Glândula Tireoide , Adolescente , Humanos , Adulto , Criança , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Câncer Papilífero da Tireoide , Mutação , Prognóstico , Proteínas Proto-Oncogênicas c-ret/genéticaRESUMO
INTRODUCTION: Narrow band imaging (NBI) is an endoscopic imaging method intended for the diagnosis of mucosal lesions of the larynx that are not visible in white-light endoscopy, but are typical of pre-tumor and tumor lesions of the larynx. THE PURPOSE OF THE STUDY: To compare preoperative/perioperative white light endoscopy and NBI endoscopy with the results of histopathological examinations in pre-tumor and tumor lesions of the larynx. METHODS: A prospective study, over a period of five years (5/2018-5/2023), included 87 patients with laryngeal lesions aged 24-80 years. We evaluated preoperative/ perioperative white light and NBI endoscopy, established a working prehistological diagnosis, and compared this with the definitive histopathological results of laryngeal biopsies. RESULTS: In relation to the definitive histology score, a statistically significant correlation was found between the evaluation of the finding and the definitive histology for preoperative and perioperative white light endoscopy and NBI endoscopy (p < 0.001). Both methods showed higher precision when used perioperatively. CONCLUSION: NBI endoscopy is an optical method that allows us to improve the diagnosis of laryngeal lesions, perform a controlled perioperative biopsy, and refine the surgical scope. The NBI endoscopy is a suitable method for the diagnosis of early cancerous lesions of the larynx. The use of preoperative/perioperative NBI endoscopy allowed us to achieve a high level of agreement correlation (p < 0.001) between the prehistological working diagnosis and the final histopathological result. The NBI method proves its application in the diagnosis of pre-tumor and tumor lesions of the larynx.
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Neoplasias Laríngeas , Laringe , Humanos , Imagem de Banda Estreita/métodos , Estudos Prospectivos , Neoplasias Laríngeas/diagnóstico por imagem , Neoplasias Laríngeas/cirurgia , Laringe/diagnóstico por imagem , Laringe/cirurgia , Laringe/patologia , Endoscopia GastrointestinalRESUMO
Carcinomas of the thyroid gland are some of the most common malignancies of the endocrine system. The causes of tumor transformation are genetic changes in genes encoding cell signaling pathways that lead to an imbalance between cell proliferation and apoptosis. Some mutations have been associated with increased tumor aggressiveness, metastatic lymph node spread, tendency to dedifferentiate, and/or reduced efficiency of radioiodine therapy. The main known genetic causes of thyroid cancer include point mutations in the BRAF, RAS, TERT, RET, and TP53 genes and the fusion genes RET/PTC, PAX8/PPAR-γ, and NTRK. Molecular genetic testing of the fine needle aspiration cytology of the thyroid tissue in the preoperative period or of the removed thyroid tissue in the postoperative period is becoming more and more common in selected institutions. Positive detection of genetic changes, thus, becomes a diagnostic and prognostic factor and a factor that determines the extent of the surgical and nonsurgical treatment. The findings of genetic research on thyroid cancer are now beginning to be applied to clinical practice. In preoperative molecular diagnostics, the aggressiveness of cancers with the most frequently occurring mutations is correlated with the extent of the planned surgical treatment (radicality of surgery, neck dissection, etc.). However, clear algorithms are not established for the majority of genetic alterations. This review aims to provide a basic overview of the findings of the most commonly occurring gene mutations in thyroid cancer and to discuss the current recommendations on the extent of surgical and biological treatment concerning preoperatively detected genetic changes.
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Introduction: Total thyroidectomy (TT) is one of the most common surgical endocrine surgeries. Voice impairment after TT can occur not only in patients with recurrent laryngeal nerve (RLN) transient paralysis, but also in cases of normal vocal cord mobility. Aim: To compare voice limits using a speech range profile (SRP) in patients before and 14 days after TT and to investigate the influence of the early results of voice quality after TT on the personal lives of patients. We focused on the perception of voice change before and shortly after TT. Materials and methods: A retrospective study, in the period 2018-2020, included 65 patients aged 22-75 years. We compared two groups of patients: group I (n = 45) (without RLN paresis) and group II (n = 20) (with early transient postoperative RLN paresis). Patients underwent video flexible laryngocopy, SRP, and Voice Handicap Index-30 (VHI-30). Results: In group I, the mean values of Fmax (maximum frequency) and Imax (maximum intensity) decreased in women (both p = 0.001), and VHI-30 increased (p = 0.001). In group II after TT in women, the mean Fmax and Imax values decreased (p = 0.005 and p = 0.034), and the frequency range of the voice was reduced from 5 to 2 semitones. The dynamic range of the voice was reduced by 3.4 dB in women and 5.1 dB in men.VHI-30 increased (p = 0.001). Conclusion: The study documented a worsening of the mean values of SRP, VHI-30, and voice parameters of patients in group II. Voice disorders also occurred in group I without RLN paresis. Non-paretic causes can also contribute to voice damage after TT. SRP and VHI-30 are suitable tools for comparing voice status in two groups of patients, including those with dysphonia. Our data support the claim that the diagnosis of a thyroid cancer does not necessarily imply a higher postoperative risk of impaired voice quality for the patient.
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Neoplasias da Glândula Tireoide , Paralisia das Pregas Vocais , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nervo Laríngeo Recorrente , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Paralisia das Pregas Vocais/etiologia , Adulto JovemRESUMO
Implantable bone conduction hearing systems are intended for patients with a conductive or mixed hearing loss, in whom other treatment options do not provide sufficient benefits or are contraindicated. In general, they are called BAHDs (bone-anchored hearing devices) and they transform acoustic energy into vibrations transferred by a titanium implant through cranial bones to cochlea and fluids of the inner ear. The implantable bone conduction hearing systems are classified as passive and active based on the location of the vibration unit. The review describes the basic types of passive systems, their advantages and disadvantages. Special attention is paid to the Bonebridge active bone conduction system which represents a state-of-the-art, efficient and patient-friendly treatment method that removes the disadvantages of passive implantable systems.