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1.
Comput Biol Med ; 170: 108077, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38306777

RESUMEN

In gait stability analysis, patients suffering from dysfunction problems are impacted by shifts in their dynamic balance. Monitoring the patients' progress is important for allowing physicians and patients to observe the rehabilitation process accurately. In this study, we designed a new methodology for classifying gait disorders to quantify patients' progress. The dataset in this study includes 84 measurements of 37 patients based on a physician's opinion. In this study, the system, which includes a Kinect camera to observe and store the frames of patients walking down a hallway, a key-point detector to detect the skeletal key points, and an encoder transformer classifier network integrated with generator-discriminator networks (ET-GD), is designed to evaluate the classification of gait dysfunction. The detector extracts the skeletal key points of patients. After feature engineering, the selected high-level features are fed into the proposed neural network to analyse patient movement and perform the final evaluation of gait dysfunction. The proposed network is inspired by the 1D encoder transformer, which is integrated with two main networks: a network for classification and a network to generate fake output data similar to the input data. Furthermore, we used a discriminator structure to distinguish between the actual data (input) and fake data (generated data). Due to the multi-structural networks in the proposed method, multi-loss functions need to be optimised; this increases the accuracy of the encoder transformer classifier.


Asunto(s)
Marcha , Trastornos del Movimiento , Humanos , Caminata , Redes Neurales de la Computación , Análisis de la Marcha
2.
Front Endocrinol (Lausanne) ; 14: 1278175, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38144572

RESUMEN

Introduction: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the absence of positive family history, thus giving rise to "occult familial" cases. Our aim was to evaluate the pattern of SDHD germline mutations in Czech patients with HNPGLs. Materials and methods: We analyzed a total of 105 patients with HNPGLs from the Otorhinolaryngology departments of 2 tertiary centers between 2006 - 2021. All underwent complex diagnostic work-up and were also consented for genetic analysis. Results: Eighty patients aged 13-76 years were included; around 60% with multiple PGLs were males. Carotid body tumor was the most frequently diagnosed tumor. Germline SDHD mutation was found in only 12% of the Czech patients; approximately 78% of those harboring the mutation had negative family history. The mutation traits had higher affiliation for multiple tumors with nearly 70% patients of ≤ 40 years of age. Conclusion: An SDHD mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of SDHD mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide.


Asunto(s)
Paraganglioma Extraadrenal , Paraganglioma , Adulto , Femenino , Humanos , Masculino , República Checa/epidemiología , Incidencia , Mutación , Paraganglioma/epidemiología , Paraganglioma/genética , Paraganglioma/diagnóstico , Succinato Deshidrogenasa/genética , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano
3.
Cent Eur J Public Health ; 31(3): 171-177, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37934480

RESUMEN

OBJECTIVES: The objective of this study is to address issues faced by doctors working in the COVID-19 units during the second phase of COVID-19 in the Czech Republic, when the country registered the highest per capita rate of new COVID-19 cases in the world. METHODS: A prospective study was designed using Google online questionnaire. Inclusion criteria were doctors from medical and surgical specialties working in COVID-19 units. The Czech Medical Association was approached in obtaining permission and helping us distribute the questionnaire with an introductory message with the aims of the study via email to the chairpersons of 18 medical and surgical Czech Societies and their respective members. The online questionnaire link was active for 31 days. Completion of a questionnaire implied consent to participate. Data was collected from the completed responses and statistical analysis was done. RESULTS: Fifteen out of eighteen invited Societies participated in the study. Out of all the transferred or volunteering doctors at the COVID units, 47.6% were from 9 medical specialties and 52.4% from 6 surgical units. The highest transfers were seen amongst male surgeons with 21 to 35 years of work experience, whilst the youngest group of doctors made the highest contribution. There was no statistical significance between the effects of COVID-19 and gender. Despite adequate medical provisions, 42% of all doctors had issues with procedural diagnostic methods, 40% tested positive for COVID-19 and 31% reported staff reduction leading to diminished patients' admissions and compromised care. Doctors from surgical departments experienced more difficulties in working in COVID-19 units. Furthermore, on contraction of COVID-19, 114 doctors asserted a lack of support and another 26% were unaware of any services. CONCLUSIONS: Our survey reiterates the relationship between factors related to occupational health and safety, standards of patient care and possibility of medicolegal consequences with the continuing COVID-19 pandemic.


Asunto(s)
COVID-19 , Médicos , Humanos , Masculino , Pandemias , Estudios Prospectivos , República Checa
4.
Endocr Relat Cancer ; 30(12)2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37882481

RESUMEN

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.


Asunto(s)
Carcinoma , Neoplasias de la Tiroides , Adolescente , Humanos , Adulto , Niño , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología , Cáncer Papilar Tiroideo , Mutación , Pronóstico , Proteínas Proto-Oncogénicas c-ret/genética
5.
Front Neurol ; 14: 1153102, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37206911

RESUMEN

Introduction: The video head impulse test (vHIT) evaluates the vestibulo-ocular reflex (VOR). It's usually recorded from only one eye. Newer vHIT devices allow a binocular quantification of the VOR. Purpose Aim: To investigate the advantages of simultaneously recorded binocular vHIT (bvHIT) to detect the differences between the VOR gains of the adducting and the abducting eye, to define the most precise VOR measure, and to assess gaze dys/conjugacy. We aimed to establish normative values for bvHIT adducting/abducting eye VOR gains and to introduce the VOR dysconjugacy ratio (vorDR) between adducting and abducting eyes for bvHIT. Methods: We enrolled 44 healthy adult participants in a cross-sectional, prospective study using a repeated-measures design to assess test-retest reliability. A binocular EyeSeeCam Sci 2 device was used to simultaneously record bvHIT from both eyes during impulsive head stimulation in the horizontal plane. Results: Pooled bvHIT retest gains of the adducting eye significantly exceeded those of the abducting eye (mean (SD): 1.08 (SD = 0.06), 0.95 (SD = 0.06), respectively). Both adduction and abduction gains showed similar variability, suggesting comparable precision and therefore equal suitability for VOR asymmetry assessment. The pooled vorDR here introduced to bvHIT was 1.13 (SD = 0.05). The test-retest repeatability coefficient was 0.06. Conclusion: Our study provides normative values reflecting the conjugacy of eye movement responses to horizontal bvHIT in healthy participants. The results were similar to a previous study using the gold-standard scleral search coil, which also reported greater VOR gains in the adducting than in the abducting eye. In analogy to the analysis of saccade conjugacy, we propose the use of a novel bvHIT dysconjugacy ratio to assess dys/conjugacy of VOR-induced eye movements. In addition, to accurately assess VOR asymmetry, and to avoid directional gain preponderance between adduction and abduction VOR-induced eye movements leading to monocular vHIT bias, we recommend using a binocular ductional VOR asymmetry index that compares the VOR gains of only the abduction or only the adduction movements of both eyes.

6.
Otol Neurotol ; 44(5): 493-501, 2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-37026797

RESUMEN

OBJECTIVE: To evaluate the safety and efficacy of AM-125 nasal spray (intranasal betahistine) in the treatment of surgery-induced acute vestibular syndrome (AVS). STUDY DESIGN: Prospective, double-blind, randomized, placebo-controlled exploratory phase 2 study with dose escalation (part A) followed by parallel dose testing (part B); open-label oral treatment for reference. SETTING: Twelve European study sites (tertiary referral centers). PATIENTS: One hundred and twenty-four patients 18 to 70 years old undergoing surgery for vestibular schwannoma resection, labyrinthectomy or vestibular neurectomy with confirmed bilateral vestibular function presurgery and acute peripheral vertigo postsurgery. INTERVENTIONS: AM-125 (1, 10, or 20 mg) or placebo or betahistine 16 mg p.o. t.i.d. for 4 weeks, starting 3 days postsurgery; standardized vestibular rehabilitation. MAIN OUTCOME MEASURES: Tandem Romberg test (TRT) for primary efficacy, standing on foam, tandem gait, subjective visual vertical and spontaneous nystagmus for secondary efficacy, Vestibular Rehabilitation Benefit Questionnaire (VRBQ) for exploratory efficacy; nasal symptoms and adverse events for safety. RESULTS: At treatment period end, mean TRT improvement was 10.9 seconds for the 20-mg group versus 7.4 seconds for the placebo group (mixed model repeated measures, 90% confidence interval = 0.2 to 6.7 s; p = 0.08). This was corroborated by nominally higher frequency of complete spontaneous nystagmus resolution (34.5% vs. 20.0% of patients) and improvement in the VRBQ; the other secondary endpoints showed no treatment effect. The study drug was well tolerated and safe. CONCLUSIONS: Intranasal betahistine may help accelerate vestibular compensation and alleviate signs and symptoms of vestibular dysfunction in surgery-induced AVS. Further evaluation in a confirmatory manner appears warranted.


Asunto(s)
Betahistina , Nistagmo Patológico , Humanos , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Betahistina/efectos adversos , Estudios Prospectivos , Vértigo/tratamiento farmacológico , Método Doble Ciego , Resultado del Tratamiento
7.
Otol Neurotol ; 44(3): 260-265, 2023 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-36728388

RESUMEN

INTRODUCTION: Currently, it is possible to preserve the auditory nerve in a large number of cases, but the preservation of the hearing itself is unpredictable. Apart from wait and scan strategy and stereoradiotherapy, hearing after vestibular schwannoma surgery is considered to remain stable even in long-term follow-up. MATERIALS AND METHODS: Twenty-eight patients had preserved hearing after retrosigmoid suboccipital microsurgery of the vestibular schwannoma between 2008 and 2014. A standard audiological protocol was performed together with an magnetic resonance imaging evaluation of the fluid content of the inner ear. RESULTS: The mean difference in pure-tone average between the direct and final postsurgical examination was 12.758 dB ( p = 2.5E - 06). The word recognition score deteriorated by 17.45% ( p = 0.03516). The mean American Academy of Otolaryngology-Head and Neck Surgery score on the second examination was 2.5, and that on the second examination was 3.111 ( p = 0.00483). There was no significant deterioration in the healthy ear.The signal intensity ratio in the basal turn of the cochlea increased by an average of 0.13 points ( p < 0.05).Patients with persistent tumor or nodular enhancement in the internal acoustic meatus deteriorated significantly in hearing according to the American Academy of Otolaryngology-Head and Neck Surgery scale compared with patients without any finding in the meatus ( p = 0.01299). CONCLUSIONS: There is a discrete but gradual deterioration of the hearing in the postoperative period. Hearing impairment is more pronounced in patients with a nodular process in the internal acoustic meatus, regardless of whether it is growth active. After surgery, the pathological content of the inner ear normalizes (evaluated on T2 magnetic resonance imaging sequences).


Asunto(s)
Oído Interno , Pérdida Auditiva , Neuroma Acústico , Humanos , Neuroma Acústico/cirugía , Audición , Oído Interno/cirugía , Pérdida Auditiva/etiología , Cóclea , Estudios Retrospectivos , Resultado del Tratamiento
8.
Front Aging Neurosci ; 15: 1283660, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38264549

RESUMEN

Introduction: Aging negatively influences the structure of the human brain including the white matter. The objective of our study was to identify, using fixel-based morphometry, the age induced changes in the pathways connecting several regions of the central auditory system (inferior colliculus, Heschl's gyrus, planum temporale) and the pathways connecting these structures with parts of the limbic system (anterior insula, hippocampus and amygdala). In addition, we were interested in the extent to which the integrity of these pathways is influenced by hearing loss and tinnitus. Methods: Tractographic data were acquired using a 3 T MRI in 79 volunteers. The participants were categorized into multiple groups in accordance with their age, auditory thresholds and tinnitus status. Fixel-based analysis was utilized to identify alterations in the subsequent three parameters: logarithm of fiber cross-section, fiber density, fiber density and cross-section. Two modes of analysis were used: whole brain analysis and targeted analysis using fixel mask, corresponding to the pathways connecting the aforementioned structures. Results: A significantly negative effect of aging was present for all fixel-based metrics, namely the logarithm of the fiber cross-section, (7 % fixels in whole-brain, 14% fixels in fixel mask), fiber density (5 % fixels in whole-brain, 15% fixels in fixel mask), fiber density and cross section (7 % fixels in whole-brain, 19% fixels in fixel mask). Expressed age-related losses, exceeding 30% fixels, were particularly present in pathways connecting the auditory structures with limbic structures. The effect of hearing loss and/or tinnitus did not reach significance. Conclusions: Our results show that although an age-related reduction of fibers is present in pathways connecting several auditory regions, the connections of these structures with limbic structures are even more reduced. To what extent this fact influences the symptoms of presbycusis, such as decreased speech comprehension, especially in noise conditions, remains to be elucidated.

9.
Front Neurol ; 13: 949696, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36247777

RESUMEN

Purpose: We aimed to assess the ability of a head-shaking test (HST) to reflect vestibular compensation in patients after unilateral peripheral vestibular loss and to provide missing evidence and new insights into the features of head-shaking-induced nystagmus (HSN) over a 2-year follow-up. Background: HSN may occur after a prolonged sinusoidal oscillation of the head. HSN is frequently observed in subjects with vestibular function asymmetry; it usually beats toward the functionally intact or "stronger" ear and can be followed by a reversal of its direction. Study design: A prospective observational case-control study. Settings: A tertiary academic referral center. Methods: A total of 38 patients after acute unilateral vestibular loss (22 patients with vestibular neuronitis and 16 patients after vestibular neurectomy) and 28 healthy controls were followed for four consecutive visits over a 2-year period. A complex vestibular assessment was performed on all participants, which included spontaneous nystagmus (SPN), the caloric test, the head-shaking test (HST), the video head impulse test (vHIT), the Timed Up and Go (TUG) test, and the Dizziness Handicap Inventory (DHI) questionnaire. We established the criteria for the poorly compensated group to assess different compensatory behaviors and results. Results: We found a time-related decrease in HSN (ρ < -0.84, p < 0.001) after unilateral vestibular loss. After 2 years of follow-up, HSN intensity in compensated patients reached the level of the control group; TUG and DHI also improved to normal; however, the caloric and vHIT tests remained abnormal throughout all follow-ups, indicating a chronic vestibular deficit. Besides, poorly compensated patients had a well-detectable HSN throughout all follow-ups; TUG remained abnormal, and DHI showed at least a moderate deficit. Conclusions: Our study showed that, after a unilateral peripheral vestibular loss, the intensity of HSN decreased exponentially over time, reflecting an improvement in dynamic ability and self-perceived deficit. HSN tended to decline to the value of the control group once vestibular compensation was satisfactory and sufficient for a patient's everyday life. In contrast, well-detectable HSN in poorly compensated patients with insufficient clinical recovery confirmed the potential of HSN to reflect and distinguish between adequate and insufficient dynamic compensation. HSN could serve as an objective indicator of stable unilateral vestibular loss.

10.
Eur Arch Otorhinolaryngol ; 279(1): 467-479, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34036422

RESUMEN

INTRODUCTION: The facial nerve surgery belongs to the basic procedures during lateral skull base approaches. Its damage has serious medical and psychological consequences, and therefore mastery of reconstruction and correction techniques should belong to the repertoire of skull base surgeons. The goal of this study was to demonstrate usefulness of electromyographic follow-up in facial nerve reconstruction. MATERIAL AND METHODS: A total of 16 patients underwent hemihypoglossal-facial anastomosis between 2005 and 2017. Most of the primary lesions came from vestibular schwannoma surgery. All patients were examined with electromyography and scored according to the House-Brackmann and IOWA grading scales. Function of the tongue has been evaluated. RESULTS: Ten patients achieved definitive House-Brackmann grade 3 score (62.5%). We did not observe any association with the patient's age, previous irradiation and the etiology of the damage. Electromyography showed pathological spontaneous activity after the first surgery. Incipient regeneration potentials were detected in 4-17 months (average 7.6) and reached maximum in 6.5-18 months (average 16). Electromyographic assessment of the effect of tongue movement showed better mimic voluntary activity by swallowing or by moving the tongue up. There was no relationship between the start of activity and the interval to achieving maximal activity. CONCLUSION: Hemihypoglossal-facial nerve anastomosis is a safe procedure and it is an optimal solution for cases lacking a proximal stump or in the case of reconstruction in the second stage. Electromyography can predict initial reinnervation activity after reconstructive procedures. During subsequent follow-up it can help to discover insufficiently recovering patients, however clinical characteristics are crucial.


Asunto(s)
Nervio Facial , Parálisis Facial , Anastomosis Quirúrgica , Nervio Facial/cirugía , Humanos , Nervio Hipogloso/cirugía , Resultado del Tratamiento
11.
J Appl Biomed ; 19(1): 57-61, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-34907716

RESUMEN

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.


Asunto(s)
Enfermedad de Fabry , Pérdida Auditiva Sensorineural , Acúfeno , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/epidemiología , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Masculino , Prevalencia , Estudios Prospectivos , Acúfeno/diagnóstico , alfa-Galactosidasa/genética
12.
Artículo en Inglés | MEDLINE | ID: mdl-34682546

RESUMEN

We carried out a survey in the Czech Republic between January and February 2021 to evaluate the impact of COVID-19 on doctors working in the COVID-19 unit. A rise in 250,000 cases were seen in the Czech Republic during the time of the survey. The indirect impact of the disease on doctors working in COVID-19 units and strategies to control the situation in the Czech Republic were evaluated here. About 35% doctors were concerned with health issues, 40% had tested positive for SARS-CoV-2 antigen, 51% reported lack of support for those who had contracted COVID-19 and 163 agreed that medical, psychological counselling and financial services should be provided. Most doctors experienced moderate and severe degrees of psychological impact. Doctors with the least working experience and those with at least 21 to 35 years were most affected. Mental fatigue was the most common reported psychosomatic effect. The effects were higher in doctors who were more concerned about working in COVID-19 units. Around 87% agreed that the best strategy in controlling the situation in the Czech Republic would be 'preventive measures in combination with vaccination'. History shows us that pandemics can occur in multiple waves. Subsequent waves, inadequate support as well as unparalleled workload can lead to a serious rise in psychological disorders amongst HCWs worldwide.


Asunto(s)
COVID-19 , Trastornos Mentales , Médicos , Humanos , Pandemias , SARS-CoV-2
13.
Sci Rep ; 11(1): 18376, 2021 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-34526580

RESUMEN

Decision making on the treatment of vestibular schwannoma (VS) is mainly based on the symptoms, tumor size, patient's preference, and experience of the medical team. Here we provide objective tools to support the decision process by answering two questions: can a single checkup predict the need of active treatment?, and which attributes of VS development are important in decision making on active treatment? Using a machine-learning analysis of medical records of 93 patients, the objectives were addressed using two classification tasks: a time-independent case-based reasoning (CBR), where each medical record was treated as independent, and a personalized dynamic analysis (PDA), during which we analyzed the individual development of each patient's state in time. Using the CBR method we found that Koos classification of tumor size, speech reception threshold, and pure tone audiometry, collectively predict the need for active treatment with approximately 90% accuracy; in the PDA task, only the increase of Koos classification and VS size were sufficient. Our results indicate that VS treatment may be reliably predicted using only a small set of basic parameters, even without the knowledge of individual development, which may help to simplify VS treatment strategies, reduce the number of examinations, and increase cause effectiveness.


Asunto(s)
Toma de Decisiones Clínicas , Manejo de la Enfermedad , Aprendizaje Automático , Neuroma Acústico/diagnóstico , Neuroma Acústico/terapia , Adulto , Anciano , Árboles de Decisión , Femenino , Audición , Pruebas Auditivas , Humanos , Masculino , Persona de Mediana Edad , Curva ROC , Reproducibilidad de los Resultados , Aprendizaje Automático Supervisado , Evaluación de Síntomas
14.
Biomedicines ; 9(6)2021 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-34072806

RESUMEN

Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.

15.
Cancers (Basel) ; 13(8)2021 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-33923728

RESUMEN

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.

16.
Biomed Res Int ; 2021: 8845943, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33763488

RESUMEN

BACKGROUND: The availability and development of methods testing the vestibuloocular reflex (VOR) brought a broader view into the lateral semicircular canal (L-SCC) function. However, the higher number of evaluated parameters makes more difficult the specialist's diagnose-making process. PURPOSE: To provide medical specialists, a new diagnostic-graphic tool, Estimated Vestibulogram- EVEST, enabling a quick and easy-to-read visualization and comparison of the VOR test results within the L-SCC. METHODS: The development of EVEST involved 148 participants, including 49 healthy volunteers (28 female and 21 male) and 99 (58 female and 41 male) patients affected by different degrees of peripheral vestibular deficit. The corresponding L-SCC VOR test results, from patients meeting the diagnostic criteria, were used to create the EVEST. RESULTS: Based on the test results, we depicted and calculated the EVEST vestibular function asymmetry (VFA) in all the groups. To assess a feasibility of EVEST to describe a vestibular function deficit, we calculated sensitivity and specificity of VFA using a receiver operating characteristic curve (ROC) and compared it to single tests. In all the tests, we determined the cutoff value as the point with the highest sensitivity and specificity. For discrimination of any vestibular deficit, the VFA with cutoff 6.5% was more sensitive (91%) and specific (98%) than single tests. Results showed that EVEST is a beneficial graphic tool for quick multifrequency comparison and diagnosis of different types of the peripheral vestibular loss. CONCLUSIONS: EVEST can help to easily evaluate various types of peripheral vestibular lesion.


Asunto(s)
Reflejo Vestibuloocular , Enfermedades Vestibulares , Pruebas de Función Vestibular , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/fisiopatología
17.
Int J Clin Pract ; 75(5): e14054, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33523523

RESUMEN

OBJECTIVES: The COVID-19 disease has an incredible impact on both hospital-based and private practices in the field of otorhinolaryngology and head and neck surgery. Practical issues faced by both types of practices have not been well addressed in most studies. A national survey was conducted in April 2020 to identify the challenges faced by otorhinolaryngologists practicing in the Czech Republic. DESIGN: Prospective questionnaire-based study SETTING: Online Google questionnaire sent to the members of the Czech Society of Otorhinolaryngology and Head and Neck Surgery PARTICIPANTS: All doctors practicing Otorhinolaryngology in the Czech Republic with access to the online questionnaire between 15th and 26th April 2020. MAIN OUTCOME MEASURES: The primary aims of the study were to evaluate any significant differences between the two types of practice in the field of Otorhinolaryngology. We formulated null hypotheses stating there were no statistical differences in the preparation and availability of personal protective equipment amongst both practices a month after the first case of COVID-19 in the Czech Republic. Statistical analyses including the Mann-Whitney U test were performed to test the hypotheses. RESULTS: Analysis and results were based on the completion of the entire questionnaire by the doctors. There were no statistically significant differences between both the practices; however, individual analyses of both the practices showed a different outcome. CONCLUSION: Despite our statistical results, it was observed that private practices faced more deficits and were more financially vulnerable. They were also other issues reported by both practices that could compromise the care of patients, functioning of workplaces and support of doctors.


Asunto(s)
COVID-19 , Otolaringología , Hospitales , Humanos , Práctica Privada , Estudios Prospectivos , SARS-CoV-2
18.
Eur Arch Otorhinolaryngol ; 278(6): 2101-2106, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33388977

RESUMEN

BACKGROUND: The SARS-COV-2 virus has more than just an infectious role to play in the society. The rapid spread has also led to significant personal, professional, financial and economic recession globally. Health care professionals are getting seriously compromised due to these issues. No published data are available on the indirect effects of COVID-19 on high-risk medical specialties. Otorhinolaryngology is considered as one such specialty. Hence, we designed a national survey to address these issues. MATERIALS AND METHODS: A google questionnaire was sent to all the otorhinolaryngologists in Czech Republic with the help of the Czech Society of Otorhinolaryngology and Head and Neck Surgery to evaluate the problems they encountered during the first wave of COVID-19. Personal, professional and financial losses were also addressed. Online access to the survey was from 15th April 2020 to 26th April 2020. RESULTS: The psychosomatic indirect impact of the disease affected female doctors than males. Burnout syndrome was the most commonly reported problem. Around 44.75% of all doctors had a combination of health, financial and economic as well as professional development and educational issues. Doctors from private practices faced higher financial losses. CONCLUSIONS: Our study showed that personal, professional and financial disturbances amongst doctors can lead to more serious consequences. With the lack of drastic measures in improving the support system for healthcare workers, the healthcare systems will fail quickly. Adequate support should be made mandatory by health authorities.


Asunto(s)
COVID-19 , Otolaringología , Cirujanos , Femenino , Personal de Salud , Humanos , Masculino , SARS-CoV-2
19.
Diagnostics (Basel) ; 12(1)2021 Dec 23.
Artículo en Inglés | MEDLINE | ID: mdl-35054195

RESUMEN

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the management of these tumors. The two main aims of any treatment approach are long-term tumor control and minimal cranial nerve morbidity. The scope of this article is to present our case series of HNPGLs to stress most important clinical aspects of their presentation as well as critical issues of their complex management. Thirty patients with suspected HNPGLs were referred to our otorhinolaryngology clinic for surgical consultation between 2016-2020. We assessed the demographical pattern, clinicoradiological correlation, as well as type and outcome of treatment. A total of 42 non-secretory tumors were diagnosed-16.7% were incidental findings and 97% patients had benign tumors. Six patients had multiple tumors. Jugular paragangliomas were the most commonly treated tumors. Tumor control was achieved in nearly 96% of operated patients with minimal cranial nerve morbidity. Surgery is curative in most cases and should be considered as frontline treatment modality in experienced hands for younger patients, hereditary and secretory tumors. Cranial nerve dysfunction associated with tumor encasement is a negative prognostic factor for both surgery and radiotherapy. Multifocal tumors and metastasis are difficult to treat, even with early detection using genetic analysis. Detecting malignancy in HNPGLs is challenging due to the lack of histomorphological criteria; therefore, limited lymph node dissection should be considered, even in the absence of clinical and radiological signs of metastasis in carotid body, vagal, and jugular paragangliomas.

20.
Eur Arch Otorhinolaryngol ; 278(3): 807-812, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32813168

RESUMEN

The SARS-CoV-2 virus causing the COVID-19 disease created considerable complications and disruptions due to it's pandemic spread. The nature of the disease left certain clinical specialties more vulnerable than others, causing serious problems with organization of care of patients. Most studies concentrated on protocols and strategies to control the situation and reduce further spread amongst medical fields. Only few were designed to identify the various issues faced by doctors. We decided to design a questionnaire addressing relevant matters for doctors working in the field of ear, nose and throat (ENT). This was then sent to all the members of the Czech Society of Otorhinolaryngology. All ENT doctors were invited to fill out the survey within a stipulated time. The aim of the study was to evaluate the impact of a pandemic situation amongst such a high risk specialty. Our results showed a significant difference between the first cases of COVID-19 and progress of the disease during April 2020 in terms of workplace preparation, adequacy of personal protective equipment and other disposable aids. There was also inadequate support of medical personnel within the ENT practices. Furthermore, financial losses were also experienced due to mainly patient-related problems. In conclusion, the obtained results were used to formulate some recommendations for the public, patients, medical staff and employers. These suggestions will hopefully help avoid a repetition of the glitches if faced with another pandemic situation.


Asunto(s)
COVID-19 , República Checa , Humanos , Enfermedades Otorrinolaringológicas , Equipo de Protección Personal , SARS-CoV-2
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