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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Undersea Hyperb Med ; 43(7): 771-780, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28777514

RESUMO

Idiopathic sensorineural hearing loss (ISNHL) is a hearing impairment that occurs suddenly with onset over a period of 24 to 72 hours, affecting at least three adjacent frequencies with hearing loss of 30 decibels or more, caused by damage to the inner ear or auditory nerve without clear reasons. The treatment of ISNHL is still a hot topic. In a retrospective study, we examined 88 patients with ISNHL (2008-2013). The objective of the study was to compare the effects of two different types of therapy: vasodilator infusion treatment combined with hyperbaric oxygen (HBO2) therapy vs. vasodilator infusion therapy alone. We investigated the correlation between the type of audiometric curve and hearing gain after treatment, the correlation between the age and the effectiveness of treatment, plus the effect of therapy on tinnitus. We found a statistically significant (p⟨0.0001) therapeutic effect in both treatment modalities: 55% with HBO2 therapy vs. 65% without HBO2. The difference between the two methods is not statistically significant. The best effect of treatment was observed in patients with apicocochlear hearing impairment. The age of patients in our group had no statistically significant relevance. Alleviation of tinnitus was observed mainly in patients with apicocochlear type of hearing loss.


Assuntos
Perda Auditiva Neurossensorial/terapia , Perda Auditiva Súbita/terapia , Oxigenoterapia Hiperbárica/métodos , Zumbido/terapia , Vasodilatadores/uso terapêutico , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Audiometria , Terapia Combinada/métodos , Feminino , Audição/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estatísticas não Paramétricas , Resultado do Tratamento
8.
Undersea Hyperb Med ; 43(3): 201-5, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27416687

RESUMO

Tinnitus is a phantom perception of sound in the absence of overt acoustic stimulation. The focus of our attention is a combined therapy of tinnitus. In this prospective study (2013-2014) we evaluated the data of normal-hearing patients with tinnitus treated with various treatment modalities. In Group 1 we evaluated the data of 84 patients/124 ears after six weeks of treatment with betahistine dihydrochloride (72 mg). In Group 2, we evaluated the data of 36 patients/ 55 ears unimproved from Group 1 who were then treated for six weeks with hyperbaric oxygen (HBO2) therapy combined with gingko biloba extract (120 mg). In Group 1, tinnitus disappeared in 9.7%, alleviated in 18.5% and improved overall in 28.2%. Average intensity of tinnitus before/after treatment was 37 decibels (dB)/33 dB. Tinnitus intensities after treatment are statistically significantly lower (p = 0.001) than the values before treatment. In Group 2 tinnitus disappeared in 5.4%, 36.4% achieved alleviation, and 41.8% showed overall improvement. The average intensity of tinnitus before/after treatment was 41dB/ 38dB. The values of tinnitus intensity after combined therapy are statistically significantly lower (p = 0.046). We have shown that both methods treatment of tinnitus are statistically significant. HBO2therapy was recommended for the general public.


Assuntos
beta-Histina/uso terapêutico , Audição , Oxigenoterapia Hiperbárica , Extratos Vegetais/uso terapêutico , Zumbido/terapia , Vasodilatadores/uso terapêutico , Adulto , Idoso , Terapia Combinada/métodos , Feminino , Ginkgo biloba , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença
9.
Vnitr Lek ; 61(9): 769-77, 2015 Sep.
Artigo em Tcheco | MEDLINE | ID: mdl-26465275

RESUMO

INTRODUCTION: The incidence of well-differentiated low-risk thyroid cancer have increased globally over the last three decades. Thyroid cancer treatment relates to a suitable surgical procedure and the use of adjuvant radio-iodine therapy in selected patients. Evaluation of prognostic factors and risk stratification are critical for determining appropriate treatment. Survival of patients with low-risk thyroid cancer is excellent. Appropriate choice of medical treatment resulted in full recovery in most patients. Relapse risk increases with the size of the primary tumor, along with the findings of the risk factors in men. METHODS AND RESULTS: Our study included a total of 1 980 patients in whom were diagnosed T1a and T1b tumors between the years 2003 to 2012. The population included 1 675 women (84.6 %) of average age of 45.22 years and 305 men (15.4 %) of average age of 50.0 years. The bulk of the file represented papillary carcinomas (1 868; 94.4 %), and smaller group of follicular carcinomas (112; 5.6 %). Patients were divided into four groups according to tumor size. Patients were evaluated according to risk factors: unifocality no other risk factors, multifocality - more bearings in thyroid tumor, metastases in regional lymph nodes, distant metastases or combination of risk factors. Group A: In the monitored set of 678 patients with papillary and follicular microcarcinoma up to 5 mm, during histological input, the findings revealed one bearing (unifocal type of cancer) in 566 patients. Multifocality was found in 112 patients, local nodal metastasis were demonstrated in 24 cases and pulmonary metastasis was discove-red in 1 case. Group B: In this group there were 576 study patients with papillary and follicular microcarcinoma size of 5-10 mm. Histological findings were captured input one bearing carcinoma in 434 patients, 142 patients with multifocality, in 53 cases of local nodal metastasis, and 1 case of bone metastases. Group C: In this group there were 467 study patients with papillary and follicular microcarcinoma size 10-15 mm. The histological initial finding captured unifocal type of cancer in 344 patients, multifocality in 123 patients, in 45 cases local metastases and in 3 cases of pulmonary metastases. Group D: 259 patients were monitored in this group with breast size 16-20 mm. At the initial finding was captured one bearing cancer in 188 patients, multifocality in 71 patients, in 24 cases evidence of local metastases and 2 patients had a case of distant lung metastases. In patients in whom risk factors were found, radioiodine treatment was indicated. This included 744 patients. In this group of patients after a year or more, relapse was observed in 74 patients (9.94 %). In 1 236 patients who did not undergo radioiodine treatment, there was a relapse in 49 patients (3.96 %). CONCLUSION: Based on our analysis, it is necessary to stratify the risk of relapse according to risk factors. In case of missed radioiodine therapy in patients with low-risk cancer without confirmed risk factors, it is also necessary to have regular clinical, laboratory and ultrasound examination. It is important to distinguish patients with risk factors that may contribute to disease recurrence. Only in this way, on one hand we prevent excessive treatment of patients with low-risk thyroid cancer which leads to increased cost of health care, and on the other hand prevent reduced level of care for patients with an increase in relapses.


Assuntos
Adenocarcinoma Folicular/terapia , Adenocarcinoma Papilar/terapia , Radioisótopos do Iodo/uso terapêutico , Neoplasias da Glândula Tireoide/terapia , Tireoidectomia , Adenocarcinoma Folicular/epidemiologia , Adenocarcinoma Folicular/patologia , Adenocarcinoma Papilar/epidemiologia , Adenocarcinoma Papilar/patologia , Adulto , Idoso , Terapia Combinada , Estudos Transversais , Feminino , Humanos , Metástase Linfática/patologia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/prevenção & controle , Recidiva Local de Neoplasia/terapia , Estadiamento de Neoplasias , Neoplasias Primárias Múltiplas/epidemiologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Prognóstico , Fatores de Risco , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia
10.
Eur Arch Otorhinolaryngol ; 271(2): 399-405, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23744180

RESUMO

Helicobacter pylori (HP) is considered a major gastric pathogen with oncogenic potential. The aim of this study was to determine whether HP is present in oropharyngeal lymphoid tissue and whether oropharyngeal HP strains carry virulence factor genes known to be involved in gastric carcinogenesis. The study included 104 subjects (41 patients with tonsillar carcinoma, 38 with chronic tonsillitis and 25 with obstructive sleep apnoea syndrome--OSAS). Detection of specific serum anti-HP antibodies was performed with an ELISA. The presence of HP in tissue was determined by culture and real-time PCR. Detection of virulence factors genes was also performed. Specific antibodies were found in 78.05% of tumour cases, 34.21% of chronic tonsillitis cases, and 72.0% of OSAS cases. The presence of HP in the tissue was detected in 73.91% of tonsillar tumours, 70.0% of tonsillitis cases, and 69.23% of OSAS specimens. The results of the virulence factor gene analysis showed the majority of the s1b (52.4%) and m2 (59.5%) alleles of vacA gene and limited abundance of cagA gene (12.5%). Results confirm that HP may colonise oropharyngeal lymphoid tissue. Oropharyngeal HP colonisation was frequently found in the oropharyngeal cancer group and in patients with benign oropharyngeal diseases. A virulence factor gene analysis showed differences from the predominant strains most commonly found in the stomach. The strains obtained from the oropharynx differed primarily by the lower abundance of the cagA gene and carried the less virulent vacA gene allele combination.


Assuntos
Antígenos de Bactérias/genética , Proteínas de Bactérias/genética , Carcinoma de Células Escamosas/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Infecções por Helicobacter/diagnóstico , Helicobacter pylori/genética , Tecido Linfoide/microbiologia , Orofaringe/microbiologia , Apneia Obstrutiva do Sono/cirurgia , Neoplasias Tonsilares/cirurgia , Tonsilite/cirurgia , Anticorpos Antibacterianos/imunologia , Técnicas de Tipagem Bacteriana , Carcinoma de Células Escamosas/complicações , Doença Crônica , Ensaio de Imunoadsorção Enzimática , Neoplasias de Cabeça e Pescoço/complicações , Infecções por Helicobacter/complicações , Infecções por Helicobacter/imunologia , Humanos , Reação em Cadeia da Polimerase em Tempo Real , Apneia Obstrutiva do Sono/complicações , Carcinoma de Células Escamosas de Cabeça e Pescoço , Neoplasias Tonsilares/complicações , Tonsilectomia , Tonsilite/complicações , Fatores de Virulência/genética
11.
Eur Arch Otorhinolaryngol ; 271(3): 607-13, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23864246

RESUMO

Helicobacter pylori, a well-known gastric pathogen, has been detected in the oral cavity and oropharynx in tonsillar tissue. In our study, the presence of H. pylori in the tonsillar tissue of patients with chronic tonsillitis and sleep apnoea syndrome (SAS) was investigated. The aim was to detect and genotype H. pylori for a collection of data supporting the possible role of H. pylori in the aetiology of chronic tonsillitis and SAS. Helicobacter pylori was detected by real-time polymerase chain reaction (rt-PCR). 89 patients, 60 with a diagnosis of chronic tonsillitis and 29 with SAS, were tested. In the chronic tonsillitis group, Helicobacter was detected in 48 (80 %) specimens, cagA gene was detected in 12 samples (25 %) and 12 samples were negative. In SAS group, Helicobacter was found in 24 samples (82.76 %), cagA gene was detected in 5 (20.83 %) and 5 samples (17.24 %) were negative. Helicobacter pylori-specific immunoglobulins were tested by ELISA in the serum of 57 patients only with 41 (71.93 %) showing positive. Our results on H. pylori DNA detection and H. pylori seropositivity show 26.32 % discrepancy, slightly in favour of rt-PCR (15.79 % compared to 10.53 %). The H. pylori presence in tonsillar tissue does not depend on the type of oropharyngeal disease (p = 0.756). This study shows that oropharynx constitutes an extragastric reservoir of H. pylori infection which could serve as an aetiopathogenetic factor for chronic tonsillitis and tonsillar hyperplasia by SAS. No conclusion has yet been drawn about the mechanism of the process.


Assuntos
Anticorpos Antibacterianos/imunologia , DNA Bacteriano/genética , Infecções por Helicobacter/microbiologia , Helicobacter pylori/genética , Tonsila Palatina/microbiologia , Síndromes da Apneia do Sono/microbiologia , Tonsilite/microbiologia , Adulto , Idoso , Doença Crônica , Estudos de Coortes , Ensaio de Imunoadsorção Enzimática , Feminino , Genótipo , Infecções por Helicobacter/imunologia , Helicobacter pylori/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Síndromes da Apneia do Sono/imunologia , Síndromes da Apneia do Sono/cirurgia , Tonsilectomia , Tonsilite/imunologia , Tonsilite/cirurgia , Adulto Jovem
12.
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.

13.
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
14.
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.

15.
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.

16.
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
17.
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
18.
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
19.
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
20.
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.

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