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1.
Cent Eur J Public Health ; 32(1): 9-15, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38669152

RESUMO

OBJECTIVE: The main objective is to confirm a hypothesis that atherosclerosis, through various mechanisms, considerably influences cognitive impairment and significantly increases the risk for developing dementia. Complete sample should be 920 individuals. The present study aimed to analyse epidemiological data from a questionnaire survey. METHODS: The work was carried out in the form of an epidemiological case control study. Subjects are enrolled in the study based on results of the following examinations carried out in neurology departments and outpatient centres during the project NU20-09-00119 from 2020 to 2023. Respondents were divided into four research groups according to the results of clinical examination for the presence of atherosclerosis and dementia. The survey was mainly concerned with risk factors for both atherosclerosis and dementia. It contained questions on lifestyle factors, cardiovascular risk factors, leisure activities, and hobbies. RESULTS: Analysis of the as yet incomplete sample of 877 subjects has yielded the following selected results: on average, 16% of subjects without dementia had primary education while the proportion was 45.2% in the group with both dementia and atherosclerosis. Subjects with dementia did mainly physical work. Low physical activity was more frequently noted in dementia groups (Group 2 - 54.4% and Group 3 - 47.2%) than in subjects without dementia (Group 1 - 19.6% and Group 4 - 25.8%). Coronary heart disease was more frequently reported by dementia patients (33.95%) than those without dementia (16.05%). CONCLUSION: Cognitively impaired individuals, in particular those with vascular cognitive impairment, have poorer quality of life and shorter survival. Risk factors contributing to such impairment are similar to those for ischaemic or haemorrhagic stroke. It may be concluded that most of the analysed risk factors play a role in the development of both atherosclerosis and dementia.


Assuntos
Aterosclerose , Demência , Humanos , Feminino , Demência/epidemiologia , Masculino , Aterosclerose/epidemiologia , Idoso , Fatores de Risco , Estudos de Casos e Controles , Pessoa de Meia-Idade , Inquéritos e Questionários , Idoso de 80 Anos ou mais , Estilo de Vida
2.
Otolaryngol Pol ; 78(2): 1-17, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38623856

RESUMO

<br><b>Introduction:</b> The early detection and diagnosis of dementia are of key importance in treatment, slowing disease progression, or suppressing symptoms. The possible role of changes in the sense of smell is considered with regard to potential markers for early detection of Alzheimer's disease (AD).</br> <br><b>Materials and methods:</b> A literature search was conducted using the electronic databases PubMed, Scopus, and Web of Science between May 30, 2022 and August 2, 2022. The term "dementia" was searched with keyword combinations related to olfaction.</br> <br><b>Results:</b> A total of 1,288 records were identified through the database search. Of these articles, 49 were ultimately included in the analysis. The results showed the potential role of changes in the sense of smell as potential biomarkers for early detection of AD. Multiple studies have shown that olfactory impairment may be observed in patients with AD, PD, MCI, or other types of dementia. Even though smell tests are able to detect olfactory loss caused by neurodegenerative diseases, they cannot reliably distinguish between certain diseases.</br> <br><b>Conclusions:</b> In individuals with cognitive impairment or neurodegenerative diseases, olfactory assessment has repeatedly been reported to be used for early diagnosis, but not for differential diagnosis.</br>.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Transtornos do Olfato , Humanos , Disfunção Cognitiva/complicações , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/etiologia , Olfato
3.
Acta Otorhinolaryngol Ital ; 43(3): 212-220, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37204846

RESUMO

Objective: Vestibular schwannoma surgery leads to acute unilateral vestibular loss. In some patients, however, the process of post-operatively initiated central compensation proceeds more rapidly than in others. This study aimed to evaluate post-operative vestibular function and correlate it with morphological findings of MRI scans. Methods: The study included 29 patients who underwent surgery for vestibular schwannoma. Vestibular function was analysed post-operatively by video head impulse test (vHIT). Subjective symptoms were evaluated using validated questionnaires. All patients underwent MRI 3 months post-operatively, and the presence of the facial and vestibulocochlear nerves in the internal auditory canal was assessed. Results: The vestibulo-ocular reflex gain measured by the vHIT correlated positively with audiological findings. Subjective perception of vestibular disorder did not correlate with objectively measured vestibular impairment or with MRI findings. Conclusions: After the resection of vestibular schwannoma, some patients may still have preserved vestibular function as measured by vHIT. The preserved function does not correlate with subjective symptoms. Patients with partially deteriorated vestibular function showed lower sensitivity to combined stimuli.


Assuntos
Neuroma Acústico , Doenças Vestibulares , Vestíbulo do Labirinto , Humanos , Teste do Impulso da Cabeça , Reflexo Vestíbulo-Ocular/fisiologia
4.
Eur Arch Otorhinolaryngol ; 280(2): 565-572, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35763083

RESUMO

PURPOSE: This study aimed to determine hearing thresholds in an otologically normal population without occupational noise exposure aged 18 to 64 years using extended high-frequency audiometry (EHFA). METHODS: Individuals from the general population who have never had hearing problems and whose job was not associated with noise exposure were included in the study and classified by age into 5 categories: 18-24 and, further, by 10 years of age. Each of these groups was further divided according to gender. All subjects underwent tympanometry, conventional pure-tone audiometry within the 0.125-8 kHz range, and extended high-frequency audiometry within the 9-16 kHz range, performed according to the standards. The significance level for statistical testing was set at 5%. RESULTS: Here, we established hearing thresholds in an otologically healthy population within the extended high-frequency (EHF) range (9-16 kHz). We found the EHFA to be a highly sensitive method for early detection of hearing loss, with hearing thresholds decreasing as soon as 35 years of age. In males, the hearing thresholds grew with age more rapidly than in women. The ability to respond at EHF gradually decreased with age and increasing frequency. CONCLUSION: Our results can help improve the knowledge of EHF hearing thresholds for individual sexes and age groups. So far, the standard 7029:2017 is not binding and, moreover, it only reaches up to the frequency of 12.5 kHz. EHFA is a highly sensitive method for the evaluation of hearing loss depending on age and sex.


Assuntos
Surdez , Perda Auditiva Provocada por Ruído , Perda Auditiva , Masculino , Adulto , Humanos , Feminino , Criança , Audiometria de Tons Puros , Audição , Perda Auditiva/diagnóstico , Testes de Impedância Acústica , Limiar Auditivo , Audiometria , Perda Auditiva Provocada por Ruído/diagnóstico
5.
Artigo em Inglês | MEDLINE | ID: mdl-35954533

RESUMO

BACKGROUND: Although fall prevention in patients after stroke is crucial, the clinical validity of fall risk assessment tools is underresearched in this population. The study aim was to determine the cut-off scores and clinical validity of the Sensory Organization Test (SOT), the Berg Balance Scale (BBS), and the Fall Efficacy Scale-International (FES-I) in patients after stroke. METHODS: In this prospective cross-sectional study, we analyzed data for patients admitted to a rehabilitation unit after stroke from 2018 through 2021. Participants underwent SOT, BBS, and FES-I pre-discharge, and the fall incidence was recorded for 6 months. We used an area under the receiver operating characteristic curve (AUC) to calculate predictive values. RESULTS: Of 84 included patients (median age 68.5 (interquartile range 67-71) years), 32 (38.1%) suffered a fall. All three tests were significantly predictive of fall risk. Optimal cut-off scores were 60 points for SOT (AUC 0.686), 35 and 42 points for BBS (AUC 0.661 and 0.618, respectively), and 27 and 29 points for FES-I (AUC 0.685 and 0.677, respectively). CONCLUSIONS: Optimal cut-off scores for SOT, BBS, and FES-I were determined for patients at risk for falls after a stroke, which all three tools classified with a good discriminatory ability.


Assuntos
Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Idoso , Estudos Transversais , Humanos , Equilíbrio Postural , Estudos Prospectivos , Curva ROC
6.
Artigo em Inglês | MEDLINE | ID: mdl-35897431

RESUMO

Ensuring the regularity and correctness of rehabilitation exercises in the home environment is a prerequisite for successful treatment. This clinical study compares balance therapy in the home environment on a conventional balance mat and an instrumented wobble board, with biofeedback supported by a rehabilitation scheme realized as web-based software that controls the course of rehabilitation remotely. The study included 55 patients with knee injuries. The control group consisted of 25 patients (12 females and 13 males, mean age 39 ± 12 years) and the study group of 30 patients (19 females and 11 males, mean age 40 ± 12 years). Treatment effects were compared using the ICS Balance Platform measurement system. Measurements showed significant differences in the change in ICS Balance platform parameters representing the dynamic stability of the patients. The dynamic stability improved more with the instrumented wobble board. The study did not show an influence of different methods of communication with patients during home-based rehabilitation.


Assuntos
Reabilitação do Acidente Vascular Cerebral , Telerreabilitação , Adulto , Biorretroalimentação Psicológica , Terapia por Exercício/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Reabilitação do Acidente Vascular Cerebral/métodos
7.
Artigo em Inglês | MEDLINE | ID: mdl-34203734

RESUMO

For this study, high-frequency audiometry was used to compare the hearing thresholds, with respect to age, among women exposed to noise in their working environment, as well as those not exposed to such noise. The cohort comprised 243 women (average age 36.2 years), of which 88 women were employed in a noisy (LAeq,8h 85-105 dB) workplace, while 155 women did not experience noise. Age categories were determined according to the World Health Organization (Geneva, Switzerland). Hearing thresholds were measured at frequencies of 0.125-16 kHz. Higher hearing thresholds were found in the youngest age groups (18-29 and 30-44 years) among those exposed to noise, as compared to those who were not. The difference in hearing thresholds between the exposed and unexposed groups increased with age, as well as with the frequencies. The highest difference in hearing thresholds for these age categories was measured at 11.25 kHz. The oldest age group (45-63 years) exposed to noise showed lower hearing thresholds than the unexposed group at all frequencies from 4 kHz to 16 kHz. High-frequency audiometry can be used for the early detection of increased hearing thresholds at high frequencies. High-frequency audiometry could be included in preventive programs, especially for younger people exposed to noise, in order to enable earlier detection of noise-induced hearing loss.


Assuntos
Perda Auditiva Provocada por Ruído , Ruído Ocupacional , Adulto , Audiometria de Tons Puros , Limiar Auditivo , Feminino , Perda Auditiva Provocada por Ruído/diagnóstico , Perda Auditiva Provocada por Ruído/epidemiologia , Perda Auditiva Provocada por Ruído/etiologia , Humanos , Pessoa de Meia-Idade , Ruído Ocupacional/efeitos adversos , Suíça , Local de Trabalho
8.
Artigo em Inglês | MEDLINE | ID: mdl-33925120

RESUMO

The WHO considers hearing loss to be a major global problem. A literature search was conducted to see whether high-frequency audiometry (HFA) could be used for the early detection of hearing loss. A further aim was to see whether any differences exist in the hearing threshold using conventional audiometry (CA) and HFA in workers of different age groups exposed to workplace noise. Our search of electronic databases yielded a total of 5938 scientific papers. The inclusion criteria were the keywords "high frequency" and "audiometry" appearing anywhere in the article and the participation of unexposed people or a group exposed to workplace noise. Fifteen studies met these conditions; the sample size varied (51-645 people), and the age range of the people studied was 5-90 years. Commercial high-frequency audiometers and high-frequency headphones were used. In populations unexposed to workplace noise, significantly higher thresholds of 14-16 kHz were found. In populations with exposure to workplace noise, significantly higher statistical thresholds were found for the exposed group (EG) compared with the control group (CG) at frequencies of 9-18 kHz, especially at 16 kHz. The studies also showed higher hearing thresholds of 10-16 kHz in respondents aged under 31 years following the use of personal listening devices (PLDs) for longer than 5 years. The effect of noise-induced hearing loss (NIHL) first became apparent for HFA rather than CA. However, normative data have not yet been collected. Therefore, it is necessary to establish a uniform evaluation protocol accounting for age, sex, comorbidities and exposures, as well as for younger respondents using PLDs.


Assuntos
Surdez , Perda Auditiva Provocada por Ruído , Ruído Ocupacional , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Audiometria , Criança , Pré-Escolar , Audição , Perda Auditiva Provocada por Ruído/diagnóstico , Perda Auditiva Provocada por Ruído/epidemiologia , Humanos , Pessoa de Meia-Idade , Ruído , Ruído Ocupacional/efeitos adversos , Adulto Jovem
9.
Otolaryngol Pol ; 76(3): 32-38, 2021 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-35796396

RESUMO

<b>Aim:</b> The aim was to compare hearing loss between men and women over 65 in pure tone audiometry and to evaluate the sensitivity of the abbreviated version of the Hearing Handicap Inventory (HHIE-S). This questionnaire highlights hearing handicaps in understanding speech. </br></br><b> Materials and Methods:</b> The data was collected in the years 2011-2015 from respondents above 18 years of age using a standar-dized HHIE-S questionnaire and specialized tests. The cohort was divided into groups based on the severity of hearing loss in the better ear according to the World Health Organization (WHO) as measured by tone threshold audiometry at 500 Hertz (Hz), 1000 Hz, 2000 Hz and 4000 Hz. </br></br> <b> Results:</b> Of the 7070 people (61.8% female and 38.2% male), 68.93% had hearing impairment. Most people had a slight he-aring loss. Based on HHIE-S, 56.94% reported impaired hearing. A statistically significant difference was found between the genders, but according to HHIE-S, females with impaired hearing were not statistically significantly more numerous than males. The diagnostic sensitivity of the HHIE-S was assessed in particular by its sensitivity (75.43%) and specificity (82.53%). The probability that a person has a hearing impairment when the HHIE-S test is positive is 90.21%. </br></br> <b> Conclusions:</b> The HHIE-S is fast, inexpensive and short, and can be included as a screening test for hearing impairment in ca-ring for the elderly. Even a minor hearing impairment can be a significant handicap in elderly patients by restricting not only social interactions but also weakening mental functioning.


Assuntos
Surdez , Perda Auditiva , Idoso , Audiometria de Tons Puros , Feminino , Perda Auditiva/diagnóstico , Humanos , Masculino , Programas de Rastreamento , Inquéritos e Questionários
10.
Int Tinnitus J ; 23(1): 1-5, 2019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31469520

RESUMO

BACKGROUND: Until recently, vestibular caloric stimulation was the only objective diagnostic method for isolating the function of the lateral semi-circular canals responsible for maintaining balance. Since 2014, the Video Head Impulse Test (vHIT) has been applied in the Czech Republic to investigate the function of all semi-circular canals. Studies conducted so far have shown that the results of these two methods do not often agree. METHODS: The aim of this study was to compare the results of vestibular caloric stimulation and vHIT in a cohort of patients with peripheral vestibular syndrome at a specialized outpatient clinic. The study lasted from July 2016 to August 2017 and included patients with unilateral peripheral vestibular syndrome (n=32; 24 females and 8 males, mean age 49.4 years) and a positive result with either vestibular caloric stimulation or vHIT. FINDINGS: 90% of the patients had a positive vestibular caloric stimulation result, while the vHIT was positive only in 50% of the patients. Both methods were positive in 13 subjects, vestibular caloric stimulation was positive and vHIT was negative in 16 subjects and in 3 cases vestibular caloric stimulation was negative and vHIT was positive. Based on these numbers, both methods concur in 45% of the cases. In 13 patients, apart from lateral canal disorders, vHIT revealed disorders in one of the vertical canals - the front right in 4, the rear right in 2, the front left in 3 and the rear left in 4. When sorted into subgroups of the "TiTrATE" diagnostic algorithm based on the time course and triggering factor, vHIT was found to be positive for acute spontaneous vertigo in 62.5% of cases. vHIT was negative for 70% of chronic and spontaneous episodic complaints. CONCLUSIONS: The diagnosis of peripheral vestibular disorders should take the pathophysiological basis of the disease into account, as this can differ in peripheral disorders. This could then explain the discrepancy between the results of the two methods. The time course of the disease can be a predictor of the vHIT outcome. Localizing the impaired function of particular semi-circular canals using vHIT can inform selective vestibular rehabilitation.


Assuntos
Testes Calóricos/métodos , Teste do Impulso da Cabeça/métodos , Doenças Vestibulares/diagnóstico , Vestíbulo do Labirinto/fisiopatologia , Adulto , Algoritmos , Instituições de Assistência Ambulatorial , Estudos de Coortes , República Tcheca , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural/fisiologia , Valor Preditivo dos Testes , Reflexo Vestíbulo-Ocular/fisiologia , Estudos Retrospectivos , Canais Semicirculares/fisiopatologia , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Vertigem/diagnóstico , Doenças Vestibulares/epidemiologia
11.
Forensic Sci Med Pathol ; 15(2): 272-275, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30649692

RESUMO

Cardiac injury following blunt chest trauma is common in motor vehicle accidents due to a crush or blast injury. Severe cardiac trauma is associated with a very high mortality. If a cardiac injury develops several weeks after non-penetrating chest trauma, establishing a causal link between the traumatic event and the cardiac injury becomes complicated. This article reports a case of fatal delayed hemopericardium and hemothorax following a motor vehicle accident including blunt chest trauma 34 days prior to death. The cardiac injury was caused by displacement of a sharp irregular fragment of one of the decedents fractured ribs and the primary defect was sealed by blood clots. Subsequent bleeding occurred when the thrombus was displaced. Since the incidence of blunt high-energy chest injuries is relatively high, heart and large vessel injuries must be taken into account and a comprehensive examination needs to be done in order to prevent the delayed development of fatal complications.


Assuntos
Hemotórax/etiologia , Derrame Pericárdico/etiologia , Traumatismos Torácicos/complicações , Ferimentos não Penetrantes/complicações , Acidentes de Trânsito , Feminino , Ventrículos do Coração/lesões , Ventrículos do Coração/patologia , Hemotórax/patologia , Humanos , Pessoa de Meia-Idade , Pedestres , Derrame Pericárdico/patologia , Fraturas das Costelas/complicações , Fraturas das Costelas/patologia , Choque Hemorrágico/etiologia , Trombose/patologia , Fatores de Tempo
12.
Medicina (Kaunas) ; 54(2)2018 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-30344259

RESUMO

BACKGROUND AND OBJECTIVE: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. PATIENTS AND METHODS: This study included 200 patients (93 males, 107 females, mean age 16.9 years, ranging from 4 months to 62 years) with nonsyndromic sensorineural hearing loss. We screened all patients for mutations in GJB2 and the large deletion del(GJB6-D13S1830). We performed further screening for additional genes (SERPINB6, TMIE, COCH, ESPN, ACTG1, KCNQ4, and GJB3) with Sanger sequencing on a subset of patients that were negative for GJB2 mutations. RESULTS: We detected biallelic GJB2 mutations in 44 patients (22%). Among these patients, 63.6%, 9.1% and 2.3% exhibited homozygous c.35delG, p.Trp24*, and p.Met34Thr mutations, respectively. The remaining 25% of these patients exhibited compound heterozygous c.35delG, c.-23+1G>A, p.Trp24*, p.Val37Ile, p.Met34Thr, p.Leu90Pro, c.235delC, c.313_326del14, p.Ser139Asn, and p.Gly147Leu mutations. We found a monoallelic GJB2 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. Conclusions: One fifth of our cohort had deafness related to GJB2 mutations. The del(GJB6-D13S1830), SERPINB6, TMIE, COCH, ESPN, ACTG1, GJB3, and KCNQ4 mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del(GJB6-D13S1830) testing should be performed only when patients with deafness carry the monoallelic GJB2 mutation.


Assuntos
Conexinas/genética , Surdez/genética , Perda Auditiva Neurossensorial/genética , Mutação/genética , Actinas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Conexina 26 , República Tcheca , Análise Mutacional de DNA/métodos , Proteínas da Matriz Extracelular/genética , Feminino , Humanos , Lactente , Canais de Potássio KCNQ/genética , Masculino , Proteínas de Membrana/genética , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Serpinas/genética , Adulto Jovem
13.
Cent Eur J Public Health ; 26(4): 316-320, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30660144

RESUMO

OBJECTIVE: Worldwide, primary schools are the most important segment of childhood education. The main disturbing source of noise in schools is human speech, the primary component of the learning process. School noise has a negative impact on information processing, teachers and pupils, and communication in the classroom. The study aimed at assessing A-weighted sound pressure levels in primary school classrooms. It was concerned with A-weighted sound pressure levels and their fluctuation during various classes. METHODS: The noise was measured with the static calibrated Brüel and Kjær 2260 Investigator sound level meter. The sound pressure levels were measured twice in 12 classes as 11 different subjects were taught to reduce the uncertainty of results due to their potential variability in time. From the instantaneous values, LA (t), equivalent continuous A-weighted sound pressure levels (LAeq,T) and LAmax were calculated. RESULTS: The mean equivalent A-weighted sound pressure level during lessons irrespective of age and subjects taught was 68.0 ± 3.4 dB (uncertainty of measurement). The highest levels of noise were in physical education and arts; the lowest levels were found for English taught as a foreign language. There were no statistically significant differences in LAeq,T depending on the numbers of children in the classes. The main source of noise is pupils. Attention should be paid to negative feelings of noise to reduce LAeq,T in schools. CONCLUSIONS: Continuous noise pollution, in combination with stress and the mentally demanding nature of the teaching profession, may lead to numerous negative effects on human personality.


Assuntos
Ruído , Instituições Acadêmicas , Criança , República Tcheca , Humanos
14.
Artigo em Inglês | MEDLINE | ID: mdl-29235577

RESUMO

Out-of-hospital cardiac arrest (OHCA) is a leading cause of death in developed industrial countries. The global worldwide average of OHCA incidence in adults is 95.9/100,000/year. European incidences vary according to source from 16 to 119/100,000/year. The aim of this study was to provide an overview of current information on OHCA. The incidences in various populations are discussed, along with the factors affecting the prognosis and outcome of these patients. The etiology and pathophysiological mechanisms are also described, especially in relation to the most common causes - acute and chronic forms of coronary artery disease and cardiomyopathies. Measures that could improve survival rates are discussed, with emphasis on the role of the general public and deployment of automatic external defibrillators.


Assuntos
Parada Cardíaca Extra-Hospitalar/epidemiologia , Parada Cardíaca Extra-Hospitalar/fisiopatologia , Desfibriladores , Educação em Saúde , Humanos , Incidência , Parada Cardíaca Extra-Hospitalar/etiologia , Parada Cardíaca Extra-Hospitalar/terapia , Prognóstico , Taxa de Sobrevida
15.
Otol Neurotol ; 38(10): e393-e400, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28984810

RESUMO

OBJECTIVE: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. STUDY DESIGN: Prospective genetic study. SETTING: Tertiary referral hospital. PATIENTS: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously. INTERVENTION: Diagnostic. Sixty-nine genes reported to be causative of hearing loss were analyzed. Sequence capture technology, next-generation sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used. Coverage of STRC was screened in Integrative Genomics Viewer software. MAIN OUTCOME MEASURE: Identification of causal pathogenic mutations in genes related to deafness. RESULTS: Five families (10%) had recessive STRC deletions or mutations. Five unrelated patients (10%) had recessive mutations in TMPRSS3, USH2A, PCDH15, LOXHD1, and MYO15A. Three families (6%) had autosomal dominant mutations in MYO6A, KCNQ4, and SIX1. One family (2%) had an X-linked POU3F4 mutation. Thus, we identified the cause of hearing loss in 28% of the families studied. CONCLUSIONS: Following GJB2, STRC was the second most frequently mutated gene in patients from the Czech Republic with hearing loss. To decrease the cost of testing, we recommend STRC deletion screening with MLPA before next-generation sequencing. The existence of a pseudogene and polymorphic STRC regions can lead to false-positive or false-negative results when copy number variation analysis is based on next-generation sequencing data.


Assuntos
Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana/genética , Adolescente , Adulto , Criança , Pré-Escolar , República Tcheca , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intercelular , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Prospectivos , Adulto Jovem
16.
Otolaryngol Pol ; 71(1): 34-39, 2017 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-28485291

RESUMO

BACKGROUND: Dizziness is the second most frequent symptom that make patients seek specialized examination. The effective solution of dizzy conditions requires treatment in cooperation with different branches of medicine. OBJECTIVE: To analyze data from the database of patients with vertigo examined in the Hearing and Balance Disorder Centre in Ostrava, to find out whether, and in what factors, the sets of patients with diagnosed central and peripheral vestibular syndrom differ from each other. METHODS: Retrospective study that was carried out from October 2012 to February 2013. The data was gathered from documentation of all vertiginous patients who were examined by an otoneurologist. RESULTS: The statistically significant difference between the two sets was found in: occurrence of hypertension and mild obesity, impaired hearing and otitis media, stabilometric testing CONCLUSIONS: There was a statistically significant difference between the sets with the central and peripheral vestibular syndrome in the frequency of occurrence of hypertension, impaired hearing, otitis media, in mild obesity categorization and in balance disorders. There was not any statistically significant difference found in the other observed factors. The results confirm the need of a multidisciplinary approach to patients with vertigo.


Assuntos
Tontura/epidemiologia , Índice de Gravidade de Doença , Vertigem/epidemiologia , Comorbidade , República Tcheca/epidemiologia , Feminino , Perda Auditiva Súbita/epidemiologia , Humanos , Hipertensão/epidemiologia , Masculino , Transtornos de Enxaqueca/epidemiologia , Obesidade/epidemiologia , Otite Média/epidemiologia , Estudos Retrospectivos
17.
J Int Adv Otol ; 12(1): 49-54, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27340983

RESUMO

OBJECTIVE: This study aimed to compare hearing loss in individuals at risk and those not at risk for occupational noise and to compare working loss by gender. MATERIALS AND METHODS: The analysis used data from a current Czech Ministry of Health grant project called Epidemiological and Genetic Study of the Frequency of Hearing Loss (2011 to 2015; NT12246-5/2011). The analyzed sample comprised 4988 participants. Hearing was tested using pure-tone threshold audiometry, tympanometry, and measurement of the stapedius reflex. RESULTS: Females at risk and those not at risk for occupational noise who were younger than 44 years and older than 75 years were found to have no statistically significant differences at any pure-tone threshold audiometry frequency. In females aged 45 to 74 years, statistically significant differences were found. In males, hearing loss was observed as early as 18 years of age. When comparing males and females at no risk for occupational noise, there were no statistically significant differences at any of the frequencies in those younger than 29 years. In females aged 30 years or older, statistically significant differences were observed at various frequencies in all age groups. When comparing males and females at risk for occupational noise, statistically significant differences were more frequent than in employees not exposed to noise. CONCLUSION: Hearing loss in females does not significantly vary depending on occupational exposure. The opposite is true for males. However, the maximum differences in mean levels did not exceed 10 dB. It is therefore clear that noise is a preventable factor, and the use of personal protective equipment is warranted.


Assuntos
Perda Auditiva Provocada por Ruído/diagnóstico , Perda Auditiva Provocada por Ruído/etiologia , Ruído Ocupacional/efeitos adversos , Doenças Profissionais/diagnóstico , Doenças Profissionais/etiologia , Testes de Impedância Acústica , Adolescente , Adulto , Fatores Etários , Idoso , Audiometria de Tons Puros , Limiar Auditivo , República Tcheca , Feminino , Perda Auditiva Provocada por Ruído/prevenção & controle , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/prevenção & controle , Reflexo Acústico , Risco , Fatores Sexuais , Adulto Jovem
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