Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 45
Filtrar
1.
J Appl Biomed ; 21(4): 167-173, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38112455

RESUMO

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.


Assuntos
Transtornos do Olfato , Olfato , Humanos , Masculino , Feminino , Olfato/fisiologia , Projetos Piloto , Estudos Prospectivos , República Tcheca , Potenciais Evocados/fisiologia , Transtornos do Olfato/diagnóstico
2.
Endocr Relat Cancer ; 30(12)2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37882481

RESUMO

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.


Assuntos
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/genética
3.
J Appl Biomed ; 21(3): 107-112, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37747310

RESUMO

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.


Assuntos
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 Gastrointestinal
4.
Artigo em Inglês | MEDLINE | ID: mdl-37114704

RESUMO

INTRODUCTION: We report a case series two patients of Guillain-Barré syndrome (GBS) associated with previous COVID-19 that both patients survived. GBS is an immune-mediated disease that affects peripheral nerves and can cause life-threatening complications. CASE REPORTS: In both cases (53-year-old female and 59-year-old male) with severe GBS with complications, the smell of sense was investigated subjectively using Sniffin' sticks identification tests and objectively using objective olfactometry by the evaluation of olfactory event-related potentials (OERPs). Both patients had good results of the subjective Sniffin' sticks identification test without patholgical findings. Results of objective examination of OERPs: the P2-N1 wave complex was equipotent. No olfactory disturbance could be detected in either case, OERPs were plentiful in both cases. CONCLUSION: The presentation of a case series two patients of post-covid GBS are an example of one of the many complications of COVID-19 that can cause prolonged recovery. Despite the severe course of GBS and the long recovery time, both patients returned to normal life. An expanded prospective study is planned for the future to investigate post-covid olfactory impairment. The prevalence of GBS associated with COVID-19 is still unknown but it is evident that both mild and severe forms of GBS have been described in patients.

5.
J Clin Med ; 11(22)2022 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-36431104

RESUMO

The subjective and demanding nature of olfactory testing means that it is often neglected in clinic despite loss of smell leading to significant limitations in everyday life. The list of diseases associated with loss of olfaction far exceeds the field of otorhinolaryngology and can also be seen in neurodegenerative disorders. Knowledge of possible clinical testing is essential to determine a proper differential diagnosis for the loss of olfactory sense. Causes of olfactory impairment can be divided into either failure in transferring odour to the organ of perception or damage to the olfactory pathway structure itself. Examination should therefore include methods evaluating cross-sectional area and patency of the nasal cavity as well as subjective or objective assessment of olfactory function. In this report we summarize several articles, studies, and our own experiences to provide a comprehensive review of their current clinical usage including their benefits, limitations, and possible outcomes. We also discuss the mechanism of olfaction step by step to provide a full understanding of the possible errors depending on the localization in the pathway and the methods designed for their detection. We discuss the correlation of the microbiome in nasal polyposis and chronic rhinitis with olfactory impairment using objective olfactometry. The topic of objective olfactometry and the examination of olfactory event-related potentials (OERP) is commented upon in detail.

6.
Medicina (Kaunas) ; 58(9)2022 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-36143818

RESUMO

Sarcomas in the head and neck area are rare diseases with an incidence of under 1% of all head and neck malignant tumours. Osteosarcomas or osteogenic sarcomas consist of neoplastic cells that produce osteoid bone or immature bone. Sarcomas develop more in the mandible than the maxilla. The exact diagnosis of different types of sarcomas is based on the immunohistochemical investigation. These rare tumours are of mesenchymal origin; osteosarcomas and chondrosarcomas are the most common types-Ewing's sarcomas. The use of proton beam radiotherapy in the treatment of osteosarcoma of the maxilla is rarely reported in the literature. We present a case of successfully treated (surgery and proton beam radiotherapy) poorly differentiated highly aggressive osteosarcoma in the ethmoids and maxillary sinus and morbidity after the treatment. We were presented with a case of a 65-year-old man with anaesthesia and palsy of the right face. The stomatology department performed the extraction of a tooth. One month later, the wound was still open. The histology showed an osteogenic sarcoma in the area of the wound. The oncologist and maxillofacial surgeons in a catchment hospital recommended a nonsurgical approach. Hence, we performed a radical maxillectomy and ethmoidectomy, after which we continued with proton bean radiotherapy. The patient is now five years after therapy without signs of sarcoma; however, he has blindness in the right eye and reduced vision in the left eye, as well as gliosis of the brain, vertigo, tinnitus, trismus, and ancylostomiases. Head and neck osteosarcomas treatment is considered a complex multidisciplinary task. It is currently argued that there is no clear therapeutic protocol for successful treatment. Innovations in treatment modalities such as proton beam radiotherapy appear to have potential, although their effects on long-term morbidity and survival outcomes are still undetermined. We present a rare case report of an osteosarcoma of the maxilla involving an innovative, successful treatment procedure combining surgical excision followed by proton beam radiotherapy. This treatment approach may enable maximum tumour control. This protocol has not been adequately described in the world literature for this diagnosis.


Assuntos
Neoplasias Ósseas , Neoplasias de Cabeça e Pescoço , Osteossarcoma , Sarcoma , Idoso , Humanos , Masculino , Seio Maxilar/patologia , Seio Maxilar/cirurgia , Osteossarcoma/patologia , Osteossarcoma/radioterapia , Osteossarcoma/cirurgia , Prótons
7.
Biomedicines ; 10(7)2022 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-35884820

RESUMO

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.

8.
J Appl Biomed ; 19(1): 57-61, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-34907716

RESUMO

Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic mutations in the alpha-galactosidase A (AGALA) encoding gene region. This rare disease affects several organs including the cochlea-vestibular system. Tinnitus and sensorineural hearing loss (SNHL) are reported among otoneurological symptoms. Early and correct diagnosis of FD is important with a view to available therapy. The aim of the study was to screen for alpha-galactosidase deficiency in men with tinnitus/SNHL. A prospective multicentric study including consecutive patients with SNHL confirmed by tone audiometry or tinnitus evaluated (10/2016-8/2019). The diagnosis of AGALA deficiency was done by dry blood spot method using a threshold of 1.2 µmol/l/h. Only men aged 18-60 were included. 181 patients were subject to evaluation. SNHL was reported in 126 (70%) patients, 50 (28%) patients had unilateral, 76 (42%) patients had bilateral SNHL. Tinnitus was found in 161 (89%) patients, unilateral in 96 (53%) and bilateral in 65 (36%) patients. Suspected FD was not detected in any patient; alpha-galactosidase The AGALA values ranged 1.5-8.8 µmol/l/h, an average of 3.4 µmol/l/h. None of the 181 patients participating in the study had AGALA levels below the threshold 1.2 µmol/l/h. The occurrence of tinnitus and sensorineural hearing loss in men appears to be an irrelevant clinical sign for FD systematic screening.


Assuntos
Doença de Fabry , Perda Auditiva Neurossensorial , Zumbido , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/epidemiologia , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Masculino , Prevalência , Estudos Prospectivos , Zumbido/diagnóstico , alfa-Galactosidase/genética
9.
Artigo em Inglês | MEDLINE | ID: mdl-34574466

RESUMO

OBJECTIVE: Oropharyngeal/laryngeal carcinoma are common cancers of the upper aerodigestive system. Human papillomavirus (HPV) is described as the most frequent in the cancer of unknown primary. The presence of Helicobacter pylori (HP) in the oral cavity is discussed in some papers. THE AIM OF STUDY: To analyze the incidence of HPV and HP in oropharyngeal/laryngeal cancer persons versus persons with chronic tonsillar inflammation and healthy persons. METHODS: The samples were taken in three groups: (1) tissue of oropharynx/larynx cancer (103 specimens); (2) tissue of palatine tonsils (85 specimens); and (3) healthy control group (50 specimens). We analyzed the presence of HP (PCR) and HPV genomic DNA (Sacace HPV High-Risk Screen Real-TM Quant) in the samples. RESULTS: HP was detected in 86 samples (83.5%) and high-risk HPV in 62 samples (60.2%). We found a very high incidence of HP. In the cancer group, HP was detected in 82.5% cases and HPV positivity in 57.8%. In total, 7.2% of the cancer patients were negative for HP and HPV together. In turn, 53.6% of the cancer patients were positive for HP and HPV together. Four cases (4.2%) were positive for HPV only. VacA positivity was detected in 82 (79.6%) of the cancer cases and VacA negativity in 21 (20.4%) if the cancer cases. The incidence of HP in chronic inflammation (n = 85) was 65 cases (76.5%) and the incidence of HPV was 38 cases (44.7%). VacA positivity was detected in 59 (69.4%) of the chronic inflammation cases and VacA negativity was found in 26 (30.6%) of the chronic inflammation cases. Regarding the control group, we found HP positivity in 5 cases (11.1%) and HPV positivity in 19 cases (42.2%). There was VacA positivity in 6 cases (50.0%) of the control group. Statistically significantly lower prevalence of HP (p < 0.001) and HPV (p = 0.006) was found in the control group. CONCLUSIONS: We suggest that the palatine tonsils are colonized by HP. In our study, HP was present in oropharyngeal cancer in more cases in comparison with HPV infection. The presence of VacA from HP can have an influence on the human epithelial and immune cells' regulation ways. Our results do not support idea that the CagA-positive HP is a primary carcinogen in oropharyngeal area.


Assuntos
Alphapapillomavirus , Infecções por Helicobacter , Helicobacter pylori , Neoplasias Laríngeas , Infecções por Papillomavirus , Infecções por Helicobacter/epidemiologia , Helicobacter pylori/genética , Humanos , Inflamação , Orofaringe , Papillomaviridae/genética , Infecções por Papillomavirus/epidemiologia , Sorogrupo
10.
Balkan Med J ; 38(4): 244-248, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34274914

RESUMO

AIMS: Patients with the Pendred syndrome suffer very often from a hearing loss. They may be good candidates for a cochlear implantation, but unfortunately, due to the fluctuating character of the hearing loss, they may escape such indication. In the study, we compared speech production and speech acquisition in 2 groups of implanted patients: those with the Pendred syndrome, and standard non-syndromic patients. METHODS: Ten patients with Pendred syndrome were analyzed for speech perception and production. The control group consisted of 41 non-syndromic implanted patients. All implantees were scored according to speech perception, speech production, and the sum of both. The data were statistically analyzed. RESULTS: No statistical difference was found in language acquisition and production in implantees with Pendred syndrome when compared to non-syndromic patients with cochlear implants. Nor there was any difference in speech production and acquisition between the 2 compared groups regarding surgical age, time elapsed after surgery, or age during the testing. CONCLUSION: In this study evaluating language and speech production and acquisition, patients with Pendred syndrome who underwent cochlear implants show comparable results to their implanted peers with deafness of a different etiology.


Assuntos
Implantes Cocleares/normas , Bócio Nodular/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Percepção da Fala/fisiologia , Adolescente , Criança , Pré-Escolar , Feminino , Bócio Nodular/complicações , Bócio Nodular/psicologia , Perda Auditiva/etiologia , Perda Auditiva/cirurgia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/psicologia , Humanos , Masculino
11.
Cancers (Basel) ; 13(8)2021 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-33923728

RESUMO

Chromosomal rearrangements of NTRK genes are oncogenic driver mutations in thyroid cancer (TC). This study aimed to identify NTRK fusion-positive thyroid tumors and to correlate them with clinical and pathological data and determine their prognostic significance. The cohort consisted of 989 different TC samples. Based on the detected mutation, samples were triaged, and those that were positive for a BRAF, HRAS, KRAS, NRAS, RET, RET/PTC or PAX8/PPARγ mutation were excluded from further analyses. NTRK fusion gene testing was performed in 259 cases, including 126 cases using next-generation sequencing. NTRK fusion genes were detected in 57 of 846 (6.7%) papillary thyroid carcinomas and in 2 of 10 (20.0%) poorly differentiated thyroid carcinomas. A total of eight types of NTRK fusions were found, including ETV6/NTRK3, EML4/NTRK3, RBPMS/NTRK3, SQSTM1/NTRK3, TPM3/NTRK1, IRF2BP2/NTRK1, SQSTM1/NTRK1 and TPR/NTRK1.NTRK fusion-positive carcinomas were associated with the follicular growth pattern, chronic lymphocytic thyroiditis and lymph node metastases. NTRK1-rearranged carcinomas showed a higher frequency of multifocality and aggressivity than NTRK3-rearranged carcinomas. Tumor size, presence of metastases, positivity for the NTRK3 or NTRK1 fusion gene and a late mutation event (TERT or TP53 mutation) were determined as factors affecting patient prognosis. NTRK fusion genes are valuable diagnostic and prognostic markers.

12.
Artigo em Inglês | MEDLINE | ID: mdl-33919592

RESUMO

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.


Assuntos
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 Jovem
13.
Artigo em Inglês | MEDLINE | ID: mdl-33922296

RESUMO

BACKGROUND: Acute acoustic trauma (AAT) ranks, among others, as one common cause of inner ear function impairment, especially in terms of military personnel, who are at an increased exposure to impulse noises from firearms. AIM OF THIS STUDY: 1. We wanted to demonstrate whether early treatment of AAT means a higher chance for the patient to improve hearing after trauma. 2. We find the answer to the question of whether hyperbaric oxygen therapy (HBO2) has a positive effect in the treatment of AAT. METHODS: We retrospectively analyzed data for the period 2004-2019 in patients with AAT. We evaluated the therapeutic success of corticosteroids and HBO2 in a cohort of patients with AAT n = 108 patients/n = 141 affected ears. RESULTS: Hearing improvement after treatment was recorded in a total of 111 ears (79%). In terms of the data analysis we were able to ascertain, utilizing success of treatment versus timing: within 24 h following the onset of therapy in 56 (40%) ears-54 (96%) ears had improved; within seven days following the onset the therapy was used in 55 (39%) ears-41 (74%) ears had improved; after seven days the therapy started in 30 (21%) ears-16 (53%) ears had improved. Parameter latency of the beginning of the treatment of AAT was statistically significant (p = 0.001 and 0.017, respectively). The success of the medical protocols was apparent in both groups-group I (treated without HBO2): n = 61 ears, of which 50 (82%) improved, group II (treated with HBO2): n = 73 ears, of which 56 (77%) improved. Group II shows improvement at most frequencies (500-2000 Hz). The most serious sensorineural hearing loss after AAT was at a frequency of 6000 Hz. CONCLUSION: Analysis of our data shows that there is a statistically significant higher rate of improvement if AAT treatment was initiated within the first seven days after acoustic trauma. Early treatment of AAT leads to better treatment success. HBO2 is considered a rescue therapy for the treatment of AAT. According to our recommendation, it is desirable to start corticosteroid therapy immediately after acoustic trauma. If hearing does not improve during the first seven days of corticosteroid therapy, then HBO2 treatment should be initiated.


Assuntos
Perda Auditiva Provocada por Ruído , Oxigenoterapia Hiperbárica , Serviços de Saúde Militar , Corticosteroides/uso terapêutico , República Tcheca , Perda Auditiva Provocada por Ruído/tratamento farmacológico , Humanos , Estudos Retrospectivos
14.
Medicina (Kaunas) ; 57(3)2021 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-33668739

RESUMO

Soft tissue sarcomas in the head and neck are rare malignancies. They occur in this area in less than 1% of all malignant tumors. Some authors have described the development of sarcoma from the mesenchymal tissue in the larynx. The histological diagnosis of a sarcoma depends on the immunohistochemical investigation. In particularly difficult diagnoses, electron microscopy has to be used. The treatment recommendation depends on the histological type of sarcoma. We analysed and summarized data on the diagnostic criteria and therapy for sarcoma of the larynx presented in the literature. We present three new cases of laryngeal sarcoma and describe the analyses of the published diagnostic and treatment schedules of laryngeal sarcomas. We developed a treatment protocol recommendation for laryngeal sarcoma based on an analysis of literature data and case reports. This recommendation is based on histological type, staging, grading, size, and survival data.


Assuntos
Neoplasias Laríngeas , Laringe , Sarcoma , Protocolos Clínicos , Humanos , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/terapia , Pescoço , Sarcoma/diagnóstico , Sarcoma/terapia
15.
Thyroid ; 30(12): 1771-1780, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32495721

RESUMO

Background: Pediatric papillary thyroid carcinoma (PTC) is a rare malignancy, but with increasing incidence. Pediatric PTCs have distinct clinical and pathological features and even the molecular profile differs from adult PTCs. Somatic point mutations in pediatric PTCs have been previously described and studied, but complex information about fusion genes is lacking. The aim of this study was to identify different fusion genes in a large cohort of pediatric PTCs and to correlate them with clinical and pathological data of patients. Methods: The cohort consisted of 93 pediatric PTC patients (6-20 years old). DNA and RNA were extracted from fresh frozen tissue samples, followed by DNA and RNA-targeted next-generation sequencing analyses. Fusion gene-positive samples were verified by real-time polymerase chain reaction. Results: A genetic alteration was found in 72/93 (77.4%) pediatric PTC cases. In 52/93 (55.9%) pediatric PTC patients, a fusion gene was detected. Twenty different types of RET, NTRK3, ALK, NTRK1, BRAF, and MET fusions were found, of which five novel, TPR/RET, IKBKG/RET, BBIP1/RET, OPTN/BRAF, and EML4/MET, rearrangements were identified and a CUL1/BRAF rearrangement that has not been previously described in thyroid cancer. Fusion gene-positive PTCs were significantly associated with the mixture of classical and follicular variants of PTC, extrathyroidal extension, higher T classification, lymph node and distant metastases, chronic lymphocytic thyroiditis, and frequent occurrence of psammoma bodies compared with fusion gene-negative PTCs. Fusion-positive patients also received more doses of radioiodine therapy. The most common fusion genes were the RET fusions, followed by NTRK3 fusions. RET fusions were associated with more frequent lymph node and distant metastases and psammoma bodies, and NTRK3 fusions were associated with the follicular variant of PTC. Conclusions: Fusion genes were the most common genetic alterations in pediatric PTCs. Fusion gene-positive PTCs were associated with more aggressive disease than fusion gene-negative PTCs.


Assuntos
Biomarcadores Tumorais/genética , Fusão Gênica , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas c-met/genética , Proteínas Proto-Oncogênicas c-ret/genética , Receptor trkA/genética , Receptor trkC/genética , Câncer Papilífero da Tireoide/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Fatores Etários , Criança , Feminino , Rearranjo Gênico , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Mutação Puntual , Prognóstico , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/terapia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/terapia , Adulto Jovem
16.
J Neurol Surg A Cent Eur Neurosurg ; 81(4): 310-317, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32361982

RESUMO

BACKGROUND: Clinical examination, including pre- and postoperative assessment of olfaction, is essential in evaluating surgical outcomes in patients with olfactory groove meningiomas (OGMs). A review of a recent series revealed a lack of assessment of olfaction in most of the studies. Tests determining olfactory detection should be used to reveal olfactory dysfunction. Specialized examination techniques (e.g., electro-olfactography, olfactory evoked potentials, and functional magnetic resonance imaging) are currently used in research. METHODS: Prospective analysis of 13 patients who underwent surgical resection of OGMs from December 2013 to December 2017 was performed. Data on clinical presentation, pre- and postoperative neurologic examinations, complications, recurrences, adjuvant treatment, and follow-up outpatient examinations were recorded. Olfactory function was assessed using the Sniffin' Sticks odor identification test preoperatively, postoperatively, and 1 year after surgery. RESULTS: All the meningiomas were resected via unilateral craniotomy, and gross total resection was achieved in all cases. Surgery-related permanent morbidity was 7.7% and overall mortality 0%. For the eight patients with preoperative normosmia, five remained normosmic (62.5%), one deteriorated to hyposmia (12.5%), and two deteriorated to anosmia (25%). For the two patients with preoperative hyposmia, one remained hyposmic and one deteriorated to anosmia. For the three anosmic patients, two remained anosmic, and one improved to hyposmia.The intact olfactory function preoperatively was associated with a better olfactory outcome. Overall, 62.5% of these patients remained normosmic, and none of the hyposmic or anosmic patients normalized their olfaction.Higher meningioma volume is associated with worse olfactory function before surgery (normosmia in 16.7% versus 100.0% in less voluminous) and following the surgery (normosmia in 16.7% versus 57.1% less voluminous).The unilateral surgical approach enabled the anatomical preservation of the contralateral olfactory nerve in 76.9% of our patients. Functional normosmia was achieved in 50% and hyposmia in 30% of these cases. CONCLUSIONS: Assessment of olfactory function is both vital in preoperative decision making (surgical approach, radicality of resection) and when evaluating surgical outcome. Preoperative normosmia seems to be the most important prognostic factor for functional olfactory outcome. In normosmic patients the olfaction was preserved in 62.5% of cases. Moreover, higher meningioma volume is associated with worse olfactory function before and following the surgery. The greatest advantage of the unilateral surgical approach is anatomical preservation of the contralateral olfactory nerve with a satisfactory functional outcome. These results support a proactive approach, with early surgical resection using a unilateral approach even in cases with less voluminous OGMs that enables the preservation of olfactory function in a significant proportion of patients.


Assuntos
Craniotomia/efeitos adversos , Neoplasias Meníngeas/fisiopatologia , Meningioma/fisiopatologia , Transtornos do Olfato/etiologia , Olfato/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia , Meningioma/diagnóstico por imagem , Meningioma/cirurgia , Pessoa de Meia-Idade , Transtornos do Olfato/fisiopatologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Período Pós-Operatório , Estudos Prospectivos
17.
World Neurosurg ; 129: e907-e914, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31103759

RESUMO

BACKGROUND: Clinical examination, including pre- and postoperative assessment of olfaction function, should be included in evaluating surgical outcomes in patients with pituitary adenomas. Most of the studies are lacking assessment of olfactory function. METHODS: A prospective study of 143 patients who underwent surgical resection of pituitary adenomas from January 2014 to December 2017 was performed. Data on clinical presentation, pre- and postoperative neurologic, endocrinologic, and ophthalmologic examinations, complications, and follow-up outpatient examinations were recorded. Olfactory function was assessed using the Sniffin' Sticks odor identification test preoperatively, postoperatively (3 months), and 1 year after surgery. RESULTS: Normosmia was present preoperatively in 93.7% of patients, postoperatively in 95.8% of patients, and in 95.1% 1 year postsurgery. Hyposmia was present preoperatively in 4.2% of patients, postoperatively in 2.1% of patients, and in 1.4% 1 year after surgery. Anosmia was present preoperatively in 2.1% of patients, postoperatively in 2.1% of patients, and in 3.5% 1 year after surgery. In patients with preoperative normosmia, postoperative hyposmia and anosmia were present in 1.5% of patients. There were no differences according to age, sex, size, or type of pituitary adenoma. CONCLUSIONS: Assessment of olfactory function should be included in the analysis of pituitary adenoma surgery results. This prospective study showed low risk of olfaction deterioration if an endoscopic endonasal approach is used without any mucosal flaps for skull base reconstruction. Further studies that include objective olfaction assessment are warranted.


Assuntos
Adenoma/cirurgia , Neuroendoscopia/efeitos adversos , Neuroendoscopia/métodos , Transtornos do Olfato/etiologia , Neoplasias Hipofisárias/cirurgia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia Endoscópica por Orifício Natural/efeitos adversos , Cirurgia Endoscópica por Orifício Natural/métodos , Nariz , Transtornos do Olfato/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Adulto Jovem
18.
Neurosurg Rev ; 42(2): 395-401, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30276575

RESUMO

Olfaction is an important sensory input that obviously affects many daily activities. However, olfactory dysfunction (hyposmia and anosmia) leads to a pronounced decrease in quality of life. Surprisingly, little attention has been paid to olfactory changes after transsphenoidal surgery for pituitary tumors. In this review, we summarize current knowledge of the effects of transsphenoidal pituitary surgery on olfaction and compare different surgical techniques. Based on selected studies, the endoscopic approach, in comparison with the microscopic approach, seems to be superior in terms of preservation of olfactory function, although the quality of data from these studies is generally poor. The best results were observed when the endoscopic approach was used without harvesting of the nasoseptal flap.


Assuntos
Adenoma/cirurgia , Neuroendoscopia/efeitos adversos , Neuroendoscopia/métodos , Transtornos do Olfato/etiologia , Neoplasias Hipofisárias/cirurgia , Humanos , Microcirurgia/efeitos adversos , Microcirurgia/métodos , Cirurgia Endoscópica por Orifício Natural/efeitos adversos , Cirurgia Endoscópica por Orifício Natural/métodos , Hipófise/cirurgia , Qualidade de Vida , Olfato , Osso Esfenoide/cirurgia , Retalhos Cirúrgicos/efeitos adversos , Resultado do Tratamento
19.
Artigo em Inglês | MEDLINE | ID: mdl-28928490

RESUMO

Backgroung and Aim. This work builds on our publication on the subject of creating a mathematical model for calculating the volume of proplaped soft tissue of the orbit in blow-out fractures, which aids us greatly in our choice of the most effective treatment immediately post-accident. PATIENTS AND METHODS: In this prospective study (2014 - 2016) we treated 29 patients with blow-out fractures. 18 (62%) were treated conservatively and in 11 (38%) we proceeded surgically. We decided whether surgical or non-surgical therapy was appropriate on the basis of clinical ENT, eye examination and the total volume of prolapsed orbital soft tissue. All procedures were perfomed by the same operating team with a uniform subciliary approach and using PMR splints adapted to the correct size and shape. RESULTS: On the basis of the mathematical model we reassessed findings in 2 patients: in one we decided against a surgical solution and in the other a surgical approach was indicated. All 18 patients treated conservatively, fully recovered and are free of diplopia. The 11 operated patients are also free of diplopia, only 1 patient (3%) displays clinically insignificant postoperative diplopia in extreme posisitons when looking upwards. CONCLUSION: With proper selection of the optimal treatment, the rate of complete disappearance of diplopia and fully preserved motility of the eyeball ranges from 91 to 97%. Surgical treatment of orbital floor fractures is important, mainly to minimise persistent post-traumatic diplopia which significantly reduces a patient's quality of life.


Assuntos
Diplopia/prevenção & controle , Modelos Teóricos , Órbita/lesões , Fraturas Orbitárias/cirurgia , Adulto , Idoso , Diplopia/etiologia , Diplopia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Órbita/patologia , Fraturas Orbitárias/complicações , Fraturas Orbitárias/fisiopatologia , Estudos Prospectivos , Qualidade de Vida , Procedimentos de Cirurgia Plástica , Resultado do Tratamento , Adulto Jovem
20.
Artigo em Inglês | MEDLINE | ID: mdl-28983121

RESUMO

BACKGROUND AND AIM: The otolaryngologist often meets with fractures of the orbital floor. The most serious complication is diplopia, arising as a result of herniation of the orbital contents, with or without fixation of the inferior rectus muscle. The aim of our work was to create a mathematical model to calculate the volume of prolapsed soft tissue of the orbit in blow-out fractures, as a factor in deciding on the need for surgical treatment. PATIENTS AND METHODS: In a retrospective study (2007-2013), we evaluated 80 patients with blow-out fractures, divided into two equal groups: 40 conservatively treated and 40 surgically treated patients. We created the model by measuring the fracture lines and herniation of the orbital soft tissues in the coronal and sagittal sections from CT images, equivalent to half the volume of a rotating ellipsoid. RESULTS: According to the proposed model, posterior and anterior fractures with a prolapse volume above 500 mm3, and anteroposterior fractures with a volume over 1400 mm3, are indicated for surgery. CONCLUSION: The volume of prolapsed soft tissue relative to the location of the fracture is the main indicator for selecting the best treatment procedure immediately after injury.


Assuntos
Tratamento Conservador , Hérnia/diagnóstico por imagem , Modelos Teóricos , Fraturas Orbitárias/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hérnia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Fraturas Orbitárias/complicações , Fraturas Orbitárias/cirurgia , Seleção de Pacientes , Prolapso , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...