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1.
Neurol Sci ; 45(2): 647-654, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37651040

RESUMO

BACKGROUND: Olfactory dysfunction has been suggested as a diagnostic and discriminative biomarker in some neurodegenerative disorders. However, there are few studies regarding the olfactory status in rare diseases including neurodegeneration with brain iron accumulation (NBIA) disorders. METHODS: Genetically-confirmed NBIA patients were enrolled. Neurological and cognitive examinations were conducted according to the Pantothenate Kinase-Associated Neurodegeneration-Disease Rating Scale (PKAN-DRS) and the Mini-Mental State Examination (MMSE) questionnaire, respectively. Olfaction was assessed in three domains of odor threshold (OT), odor discrimination (OD), odor identification (OI), and total sum (TDI) score by the Sniffin' Sticks test. The olfactory scores were compared to a control group and a normative data set. RESULTS: Thirty-seven patients, including 22 PKAN, 6 Kufor Rakeb syndrome, 4 Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), 5 cases of other 4 subtypes, and 37 controls were enrolled. The mean PKAN-DRS score was 51.83±24.93. Sixteen patients (55.2%) had normal cognition based on MMSE. NBIA patients had significantly lower olfactory scores compared to the controls in TDI and all three subtests, and 60% of them were hyposmic according to the normative data. Including only the cognitively-normal patients, still, OI and TDI scores were significantly lower compared to the controls. The phospholipase A2-Associated Neurodegeneration (PLAN) and MPAN patients had a significantly lower OI score compared to the cognitively-matched PKAN patients. CONCLUSION: Olfactory impairment as a common finding in various subtypes of NBIA disorder can potentially be considered a discriminative biomarker. Better OI in PKAN compared to PLAN and MPAN patients may be related to the different underlying pathologies.


Assuntos
Doenças Neurodegenerativas , Transtornos do Olfato , Neurodegeneração Associada a Pantotenato-Quinase , Humanos , Olfato/fisiologia , Neurodegeneração Associada a Pantotenato-Quinase/complicações , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/etiologia , Encéfalo , Doenças Neurodegenerativas/complicações , Ferro , Biomarcadores
2.
Cancer Cell Int ; 23(1): 99, 2023 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-37217995

RESUMO

Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma. The clinical manifestations of NF2 depend on the site of involvement. Vestibular schwannoma can present with hearing loss, dizziness, and tinnitus, while spinal tumor leads to debilitating pain, muscle weakness, or paresthesias. Clinical diagnosis of NF2 is based on the Manchester criteria, which have been updated in the last decade. NF2 is caused by loss-of-function mutations in the NF2 gene on chromosome 22, leading the merlin protein to malfunction. Over half of NF2 patients have de novo mutations, and half of this group are mosaic. NF2 can be managed by surgery, stereotactic radiosurgery, monoclonal antibody bevacizumab, and close observation. However, the nature of multiple tumors and the necessity of multiple surgeries over the lifetime, inoperable tumors like meningiomatosis with infiltration of the sinus or in the area of the lower cranial nerves, the complications caused by the operation, the malignancies induced by radiotherapy, and inefficiency of cytotoxic chemotherapy due to the benign nature of NF-related tumors have led a march toward exploring targeted therapies. Recent advances in genetics and molecular biology have allowed identifying and targeting of underlying pathways in the pathogenesis of NF2. In this review, we explain the clinicopathological characteristics of NF2, its genetic and molecular background, and the current knowledge and challenges of implementing genetics to develop efficient therapies.

3.
Acta Oncol ; 62(11): 1394-1402, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37672036

RESUMO

BACKGROUND: The socioeconomic differences in survival are pronounced for patients diagnosed with head and neck cancer; disease stage at diagnosis is suggested to be a main driver of this association. This nationwide, population-based study investigates socioeconomic differences in the pre-diagnostic interval and disease stage at diagnosis. MATERIAL AND METHODS: Information on patient-reported symptoms, symptom onset and disease-specific factors was obtained from the nationwide population-based Danish Head and Neck Cancer Group (DAHANCA) database for patients diagnosed with head and neck squamous cell carcinoma between 2008 and 2019 in Denmark. Socioeconomic position (SEP) was measured by individual-level education, income and cohabitation status obtained from administrative registers. Socioeconomic differences in the interval from symptom onset to diagnosis were investigated in general linear models with 95% confidence intervals (CIs); overall and by subsite, symptom and comorbidity score. Consultation patterns prior to diagnosis were examined using methods for change-point detection. Associations with advanced-stage disease were estimated in logistic regression models. RESULTS: Patients with low, medium and high SEP had a similar interval from patient-reported symptom onset to diagnosis of 10 weeks. Although this interval varied according to primary symptom and anatomical subsite, no apparent socioeconomic differences were observed within these subgroups. Aligned with the patient-reported symptom onset, a distinct increase in consultation rates was observed at 9 weeks (95% CI [7.3; 10.7]) for patients with low SEP and 7 weeks (95% CI [4.8; 9.2]) for patients with high SEP, with overlapping CIs. Patients with low compared to high SEP had increased odds for advanced-stage glottic and oral cavity squamous cell carcinoma. For the remaining subsites the association varied according to SEP-indicator and TNM-edition. CONCLUSION: The interval from symptom onset to diagnosis and consultation patterns were similar across SEP groups. Still, socioeconomic differences in stage at diagnosis were observed for some - but not all - subsites.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço , Fatores Socioeconômicos , Renda , Carcinoma de Células Escamosas/patologia
4.
Acta Oncol ; 62(11): 1418-1425, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37703300

RESUMO

BACKGROUND: In the Danish Head and Neck Cancer Group (DAHANCA) 35 trial, patients are selected for proton treatment based on simulated reductions of Normal Tissue Complication Probability (NTCP) for proton compared to photon treatment at the referring departments. After inclusion in the trial, immobilization, scanning, contouring and planning are repeated at the national proton centre. The new contours could result in reduced expected NTCP gain of the proton plan, resulting in a loss of validity in the selection process. The present study evaluates if contour consistency can be improved by having access to AI (Artificial Intelligence) based contours. MATERIALS AND METHODS: The 63 patients in the DAHANCA 35 pilot trial had a CT from the local DAHANCA centre and one from the proton centre. A nationally validated convolutional neural network, based on nnU-Net, was used to contour OARs on both scans for each patient. Using deformable image registration, local AI and oncologist contours were transferred to the proton centre scans for comparison. Consistency was calculated with the Dice Similarity Coefficient (DSC) and Mean Surface Distance (MSD), comparing contours from AI to AI and oncologist to oncologist, respectively. Two NTCP models were applied to calculate NTCP for xerostomia and dysphagia. RESULTS: The AI contours showed significantly better consistency than the contours by oncologists. The median and interquartile range of DSC was 0.85 [0.78 - 0.90] and 0.68 [0.51 - 0.80] for AI and oncologist contours, respectively. The median and interquartile range of MSD was 0.9 mm [0.7 - 1.1] mm and 1.9 mm [1.5 - 2.6] mm for AI and oncologist contours, respectively. There was no significant difference in ΔNTCP. CONCLUSIONS: The study showed that OAR contours made by the AI algorithm were more consistent than those made by oncologists. No significant impact on the ΔNTCP calculations could be discerned.


Assuntos
Inteligência Artificial , Neoplasias de Cabeça e Pescoço , Humanos , Órgãos em Risco , Prótons , Planejamento da Radioterapia Assistida por Computador/métodos
5.
Lasers Med Sci ; 37(9): 3343-3351, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36404359

RESUMO

Mood disorders are common, debilitating and impose a high-cost burden on society. Side effects and resistance to psychiatric drugs justify finding new treatment methods. Photobiomodulation therapy (PBMT) uses photons of light to repair, modulate and improve the function of target tissue. The purpose of this study is to systematically review the use of PBMT for the treatment of mood disorders and to identify the useful parameters of PBMT, the level of evidence of its effectiveness, and the degree of its practical recommendation. "Google scholar," "Pub Med," "Scopus," and "Science direct" online databases were searched based on Preferred Reporting Items for Systematic Reviews and meta-analyses (PRISMA) guidelines. The human or animal studies written in English and published from January 2009 to August 2021 were included. Sixteen studies, which included four randomized controlled trials (RCTs), met the inclusion criteria. Infrared wavelength ranges from 800 to 830 nm, power density of 250 mW/cm2 and energy density of 60 to 120 J/ cm2 were the most used PBMT parameters. Bias risk assessment was performed to evaluate the quality of RCTs in which 2 out of 4 RCTs were evaluated as high quality. Based on grade practice recommendations, PBMT can be classified as strongly recommended for moderate grade of major depressive disorder (MDD) and recommended for anxiety disorder. In bipolar disorder, further studies are needed to recommend this therapeutic method.


Assuntos
Terapia com Luz de Baixa Intensidade , Animais , Humanos , Fótons , Medição de Risco
6.
Am J Otolaryngol ; 43(5): 103505, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35714500

RESUMO

OBJECTIVES: The current study aimed to investigate if there is a difference in the use of intratympanic steroid therapy (IST), compared to systemic steroid treatment (SST), as an initial treatment for patients with sudden sensorineural hearing loss (SSNHL) by a meta-analysis design performed on the mean pure-tone average (PTA) improvement and the complete recovery rate. METHODS: A systematic literature review was performed on randomized controlled trials published from 1990 to August 2020 in some databases including PubMed/MEDLINE, Scopus, Embase, Web of Science, Cochrane library/CENTRAL, Ovid, ProQuest, Google Scholar, and clinical trials.gov. The primary outcomes of interest were pure-tone average improvement and complete recovery rates. RESULTS: Six eligible studies with 496 patients (250 patients in the IST group and 246 subjects in the SST group) were included in this study. The pooled standardized mean difference of the PTAs was estimated as 0.07 (95% CI = -0.10 to 0.25; I2 = 0.0%, P = 0.668), and the pooled odds ratio of complete recovery rate was obtained as 1.00 (95% CI = 0.66 to 0.151; I2 = 31.6, P = 0.199). Moreover, the pooled standardized mean difference of pure-tone average for the intratympanic steroid treatment group compared to the patients with oral steroid treatment was 0.07 (95% CI = -0.12 to 0.26; I2 = 0.0%, P = 0.526). CONCLUSIONS: The current study demonstrated that the effect of intratympanic injection of corticosteroid, as a first-line treatment, is not statistically different from the systemic route in improving the hearing outcomes among patients with SSNHL.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Corticosteroides/uso terapêutico , Audiometria de Tons Puros , Dexametasona , Glucocorticoides , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Perda Auditiva Súbita/diagnóstico , Perda Auditiva Súbita/tratamento farmacológico , Humanos , Injeção Intratimpânica , Esteroides/uso terapêutico , Resultado do Tratamento
7.
J Cell Mol Med ; 2021 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-33987950

RESUMO

Different cellular mechanisms contribute to the hearing sense, so it is obvious that any disruption in such processes leads to hearing impairment that greatly influences the global economy and quality of life of the patients and their relatives. In the past two decades, transmembrane inner ear (TMIE) protein has received a great deal of research interest because its impairments cause hereditary deafness in humans. This evolutionarily conserved membrane protein contributes to a fundamental complex that plays role in the maintenance and function of the sensory hair cells. Although the critical roles of the TMIE in mechanoelectrical transduction or hearing procedures have been discussed, there are little to no review papers summarizing the roles of the TMIE in the auditory system. In order to fill this gap, herein, we discuss the important roles of this protein in the auditory system including its role in mechanotransduction, olivocochlear synapse, morphology and different signalling pathways; we also review the genotype-phenotype correlation that can per se show the possible roles of this protein in the auditory system.

8.
Br J Cancer ; 125(3): 458-464, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34017084

RESUMO

BACKGROUND: Patients with head and neck squamous cell carcinoma (HNSCC) undergoing radiotherapy (RT) or chemoradiation (CRT) may become immunocompromised. In this population-based study, we aimed to investigate the risk factors, microbiological aetiologies, prognosis and impact on early non-cancer mortality of bloodstream infections (BSIs) after RT/CRT. METHODS: Patients with HNSCC of the pharynx, larynx and oral cavity treated with curative-intent RT/CRT in Denmark between 2010 and 2017 and subsequent BSI episodes occurring within 18 months of RT/CRT initiation were identified in national registries. RESULTS: We included 5674 patients and observed 238 BSIs. Increasing age, stage and performance status were significantly associated with an elevated BSI risk, while sex, smoking and high-grade mucositis were not. Human papillomavirus-positive oropharyngeal cancer patients had a decreased risk. Staphylococcus aureus accounted for 34% of episodes occurring during the first 3 months. The 30-day post-BSI mortality rate was 26% (95% confidence interval: 19-32) and BSIs were involved in 10% of early non-cancer deaths. CONCLUSION: The risk of BSI development is associated with several patient- and disease-related factors and BSIs contribute considerably to early non-cancer mortality. Empiric antibiotic treatment regimens should prioritise coverage for S. aureus when treating suspected systemic infection in this population.


Assuntos
Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/radioterapia , Infecções por Papillomavirus/epidemiologia , Sepse/epidemiologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/tratamento farmacológico , Carcinoma de Células Escamosas de Cabeça e Pescoço/radioterapia , Idoso , Quimiorradioterapia/efeitos adversos , Bases de Dados Factuais , Dinamarca/epidemiologia , Feminino , Neoplasias de Cabeça e Pescoço/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Radioterapia/efeitos adversos , Sistema de Registros , Fatores de Risco , Sepse/microbiologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/virologia , Staphylococcus aureus/classificação , Staphylococcus aureus/isolamento & purificação , Análise de Sobrevida
9.
Acta Oncol ; 60(11): 1472-1480, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34369265

RESUMO

BACKGROUND: In head and neck cancer, distant metastases may be present at diagnosis (M1) or occur after treatment (DM). It is unknown whether M1 and DM follow the same clinical development and share prognosis, as population-based studies regarding outcomes are scarce. Therefore, we investigated the incidence, location of metastases and overall survival of patients with M1 and DM. MATERIALS AND METHODS: Patients diagnosed with squamous cell carcinoma of the pharynx and larynx in Denmark 2008-2017 were identified in the Danish Head and Neck Cancer Group (DAHANCA) database. We identified 7300 patients, of whom 197 (3%) had M1 and 498 (8%) developed DM during follow-up. RESULTS: The 5-year cumulative incidence of DM was 8%. 1- and 2-year overall survival for DM (27% and 13%) vs. M1 (28% and 9%) were equally poor. There was no significant difference in location of metastases for M1 and DM and the most frequently involved organs were lungs, bone, lymph nodes and liver, in descending order. In oropharyngeal squamous cell carcinomas, the location of metastases did not differ by p16-status. For p16-positive patients, 21% of DM occurred later than three years of follow-up compared to 7% of p16-negative patients. CONCLUSION: Incidence, location of metastases and prognosis of primary metastatic (M1) or post-treatment metastatic (DM) disease in pharyngeal and laryngeal squamous cell carcinoma are similar in this register-based study.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Laringe , Carcinoma de Células Escamosas/epidemiologia , Humanos , Faringe , Prognóstico , Estudos Retrospectivos
10.
Med J Islam Repub Iran ; 35: 183, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-36042829

RESUMO

Background: More than 6.8% of the world's population suffer from disabling hearing impairment. Hearing impairment can cause lifelong or even life-threatening problems and has a significant impact on the health and quality of life. This study aimed to analyze the current situation of the ear and hearing care (EHC) in the frame of Iran health system. Methods: This situation analysis was performed over a 5-year period (2013-2017) using the Strengths, Weaknesses, Opportunities, and Threats analysis method. First, after formation of the steering committee, all relevant published and unpublished articles and reports were reviewed and analyzed. In the next step, focused group discussion sessions (FGDs) were held with the participation of the experts, stakeholders, and Steering Committee members. Through the scissor-and-sort technique, the relevant data were highlighted and main categories evolved. Results: The main challenges included inadequate health literacy, weak intrasectoral and intersectoral cooperation, the inadequacy of policy responses, nonintegration of the EHC in the primary health care system, poor standard processes, and resources of EHC, and lack of EHC surveillance system. The 6 major interventions and strategies extracted as identifying the capacities of both the public and private sectors, reinforcement of intersectoral cooperation and intersectoral collaboration, standardizing the processes and integrating of EHC services in the PHC, reorganizing the referral system, promoting hearing health literacy, and minimizing hearing loss risk factors. Conclusion: Implementing the proposed interventions and strategies is essential to improve the situation of Iran EHC management system during the next 5 years.

11.
Med J Islam Repub Iran ; 35: 73, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34290997

RESUMO

Background: Recovery of children does not appear on its own after cochlear implantation. Coherent, thoughtful, and comprehensive rehabilitation is needed to achieve complete success. The purpose of this study was to identify the types of rehabilitation interventions for children with cochlear implants that have been performed in Iran. Methods: A scoping review study was conducted. An electronic search was carried out both in English and Persian. In English, the following keywords were used: cochlear implantation, child, cochlear implants, auditory rehabilitation, deaf, hearing loss, comprehensive, interventions, rehabilitation, and telerehabilitation and a combination of them in ProQuest, PubMed, Science Direct, and Scopus databases, Web of Sciences, Medline and Embase. Persian electronic search was conducted in the Scientific Information Database (SID) of Jihad Daneshgahi, Iran Journals Database (MagIran), and Islamic World Science Citation Database (ISC). Searches were done using articles published until September 25, 2020, and a total of 902 articles were found, of which 14 were directly related to the purpose of the study. Interventional studies were included in the study, and the quality of studies was measured using the Structured Effectiveness Quality Evaluation Scale. Results: The results showed that using music and rehabilitation equipment, different methods of speech therapy and auditory training, story-based instruction, creative play, family-centered instruction, and occupational therapy are interventions in cochlear implant rehabilitation. Speech therapy accounts for 54% of the rehabilitation share. The mean number of rehabilitation sessions was 26. These interventions were all somehow effective in children with cochlear implantation; the longer the training duration, the better the results. Conclusion: The process of cochlear implant rehabilitation in children is multi-professional; auditory training and speech therapy possesses the highest share of rehabilitation. Therefore, it is recommended to develop speech therapy centers in Iran.

12.
Med J Islam Repub Iran ; 35: 153, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35341085

RESUMO

Background :Psychophysical tests are typically used for clinical assessment of human smelling function. Given that olfactory identification is linked to the regional culture, the main aim of this study was to provide the comprehensive "sniffin' sticks" olfactory test, culturally adapted on the Iranian population as well as to examine the discriminatory power of this test between normal people and patients with olfactory disorder. Methods : This cross-sectional study consisted of 3 steps. A total of 200 healthy people were recruited to determine odor familiarity (using Likert- scale) for the first step. In the second step, based on the original sniffin' sticks test and odor familiarity, 16 odor items were selected. Odor modification was performed and the identification part of the sniffin' sticks test was created. Then, 99 patients with olfactory disorders and 214 healthy participants were tested using the Iranian sniffin' sticks test (Ir-SST). After 2 to 4 weeks, participants were reexamined and test reliability was evaluated by using a Pearson correlation coefficient test. Results : The Ir-SST showed that scores of patients with smell loss were significantly lower than normosmic participants (13.6 ± 5.24 vs 34.3 ± 3.41, P < 0.001). The sensitivity (95.2%) and specificity (93.5%) of the test were also found to be high. Test-retest reliability was as follows: composite score: r = 0.8; odor identification: r = 0.83; odor threshold: r = 0.77; and odor discrimination test: r = 0.56; P < 0.001. Conclusion : The results suggest that the Ir-SST can be effectively adapted to the Iranian population. The current study validates that the sniffin' sticks olfactory test is applicable as a useful screening tool for comprehensive assessment of olfactory function in an Iranian population.

13.
Neurol Sci ; 41(9): 2331-2338, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32656713

RESUMO

BACKGROUND: Olfactory dysfunction has shown to accompany COVID-19. There are varying data regarding the exact frequency in the various study population. The outcome of the olfactory impairment is also not clearly defined. OBJECTIVE: To find the frequency of olfactory impairment and its outcome in hospitalized patients with positive swab test for COVID-19. METHODS: This is a prospective descriptive study of 100 hospitalized COVID-19 patients, randomly sampled, from February to March 2020. Demographics, comorbidities, and laboratory findings were analyzed according to the olfactory loss or sinonasal symptoms. The olfactory impairment and sinonasal symptoms were evaluated by 9 Likert scale questions asked from the patients. RESULTS: Ninety-two patients completed the follow-up (means 20.1 (± 7.42) days). Twenty-two (23.91%) patients complained of olfactory loss and in 6 (6.52%) patients olfactory loss was the first symptom of the disease. The olfactory loss was reported to be completely resolved in all but one patient. Thirty-nine (42.39%) patients had notable sinonasal symptoms while rhinorrhea was the first symptom in 3 (3.26%). Fifteen patients (16.3%) had a taste impairment. Patients with sinonasal symptoms had a lower age (p = 0.01). There was no significant relation between olfactory loss and sinonasal symptoms (p = 0.07). CONCLUSIONS: Sudden olfactory dysfunction and sinonasal symptoms have a considerable prevalence in patients with COVID-19. No significant association was noted between the sinonasal symptoms and the olfactory loss, which may suggest that other mechanisms beyond upper respiratory tract involvement are responsible for the olfactory loss.


Assuntos
Betacoronavirus , Infecções por Coronavirus/diagnóstico por imagem , Hospitalização/tendências , Transtornos do Olfato/diagnóstico por imagem , Seios Paranasais/diagnóstico por imagem , Pneumonia Viral/diagnóstico por imagem , Adulto , Idoso , COVID-19 , Infecções por Coronavirus/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos do Olfato/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Estudos Prospectivos , SARS-CoV-2 , Resultado do Tratamento
14.
Fetal Pediatr Pathol ; 39(1): 1-12, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31215297

RESUMO

Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes are typically the first line of genetic screening before proceeding to any massive parallel sequencing. We evaluated the clinical utility of GJB2 and GJB6 testing in the Iranian population. Methods: GJB2 and GJB6 were sequenced. PubMed and Google Scholar were searched for Iranian publications on deletions in the DFNB1 locus. Results: We detected mutations of GJB2 in 16.5%, and no mutations of GJB6. Literature review revealed no reports of mutations of GJB6 in the Iranian population. Conclusion: This data and literature reviews indicate that GJB6 is not commonly responsible for Iranian nonsyndromic HI. Hence, the clinical utility of GJB6 genetic analysis as a first line for HI evaluation does not have the same utility as GJB2. The study is consistent with recent studies emphasizing the role of ethnicity in the selection of HI genetic testing strategy.


Assuntos
Conexina 30/genética , Conexinas/genética , Perda Auditiva/genética , Mutação/genética , Conexina 26 , Surdez/genética , Frequência do Gene/fisiologia , Genes Recessivos , Testes Genéticos/métodos , Humanos , Deleção de Sequência/fisiologia
15.
Int Tinnitus J ; 24(1): xxx-xx, 2020 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-33206489

RESUMO

BACKGROUND AND OBJECTIVE: Patients with profound Sensorineural Hearing Loss (SNHL) are susceptible to vestibular disturbances following Cochlear Implant (CI) surgery. This study aimed to evaluate vestibular dysfunctions following unilateral CI in the congenitally deaf children. METHODS: This was a cross-sectional study conducted on 24 children (mean age: 10.56 ± 5.49 years old) who underwent unilateral CI and 24 age-matched controls (mean age: 11.13 ± 6.21 years old). Vestibular functions were assessed by Vestibular Evoked Myogenic Potential (VEMP) and Computerized Dynamic Posturography (CDP). The VEMP test was performed for otolith's function (especially saccule) evaluation. Sensory Organization Test (SOT) protocol of CDP was also utilized to differentiate the role of various sensory systems contributing to postural stability. In addition, total equilibrium score was calculated. The variables were comparatively assessed between the two groups. RESULTS: The mean p13-n23 amplitude in the CI users was significantly lower than the controls (p<0.05). However, the two groups showed no significant difference in cVEMP latency values (p>0.05). The SOT analysis revealed that 45.83% (11/24) of the CI subjects had some kind of sensory abnormalities: 7 cases (29.17%) vestibular, 2 cases (8.33%) visual, 2 cases (8.33%) vestibular and somatosensory involvements. Furthermore, total equilibrium score was significantly reduced in implanted group than the controls (p<0.001). At least, 70.59% (12/24) CI patients showed abnormal values in the CDP or cVEMP examinations. CONCLUSION: This study shows functional vestibular impairments in children who underwent CI. These patients showed significantly increased postural instability which was more evident in dynamic conditions. These findings provide the basis for better pre-operative counseling and postoperative vestibular rehabilitation to CI recipients.


Assuntos
Implante Coclear/efeitos adversos , Implantes Cocleares/efeitos adversos , Equilíbrio Postural , Transtornos de Sensação/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Perda Auditiva Neurossensorial/cirurgia , Humanos , Masculino , Doenças Vestibulares/etiologia
16.
J Sport Rehabil ; 29(8): 1100-1105, 2020 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31910390

RESUMO

CONTEXT: Many factors have been reported contributing to altering the neuromuscular function of hip and knee muscles. The lumbar hyperlordosis, as a poor posture in some athletes, is thought to be associated with the alteration of the hip and knee muscles activity. OBJECTIVE: To examine the activation of selected hip and knee muscles in athletes with and without lumbar hyperlordosis during functional activities. DESIGN: Case-control study. SETTING: University laboratory. PARTICIPANTS: Twenty-six college male athletes (n = 13 with and n = 13 without lumbar hyperlordosis). INTERVENTIONS: Surface electromyography of gluteus maximus (GMAX), gluteus medius (GMED), vastus medialis oblique (VMO), and vastus lateralis (VL) were recorded during single-leg squat and single-leg jump landing (SLJL) tasks. MAIN OUTCOME MEASURE: Preactivity; reactivity; and onset muscle during SLJL and eccentric activity during single-leg squat (GMAX, GMED, VMO, and VL along with the ratio of VMO:VL) were assessed. RESULTS: Athletes with lumbar hyperlordosis had a higher level of activity in their GMAX (P = .003), VMO (P = .04), and VL (P = .01) muscles at the moment before foot contact during SLJL. These athletes also demonstrated a higher level of GMAX activity (P = .01) immediately after foot contact. Finally, athletes with lumbar hyperlordosis activated their GMAX sooner (P = .02) during the SLJL. Athletes with normal lumbar lordosis had more activity in their GMED muscle (P = .001) in the descending phase of the single-leg squat task and a higher VMO:VL (P = .01) at the moment after the foot contact during the SLJL. CONCLUSION: The altered activation of GMAX, GMED, VMO, VL, and VMO:VL can reveal the role of lumbar hyperlordosis in the knee and hip muscles' alteration in athletes. Further study is needed to identify whether these alterations in the hip and knee muscles contribute to injury in athletes.


Assuntos
Teste de Esforço , Lordose/fisiopatologia , Músculo Esquelético/fisiopatologia , Adulto , Atletas , Nádegas , Estudos de Casos e Controles , Eletromiografia , Humanos , Adulto Jovem
17.
Med J Islam Repub Iran ; 34: 62, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32974228

RESUMO

Background: The occurrence of anosmia/hyposmia during novel Coronavirus disease 2019 (COVID-19) may indicate a relationship between coincidence of olfactory dysfunction and coronavirus disease 2019 (COVID-19). This study aimed to assess the frequency of self-reported anosmia/hyposmia during COVID-19 epidemic in Iran. Methods: This population-based cross sectional study was performed through an online questionnaire from March 12 to 17, 2020. Cases from all provinces of Iran voluntarily participated in this study. Patients completed a 33-item patient-reported online questionnaire, including smell and taste dysfunction and their comorbidities, along with their basic characteristics and past medical histories. The inclusion criteria were self-reported anosmia/hyposmia during the past 4 weeks, from the start of COVID-19 epidemic in Iran. Results: A total of 10 069 participants aged 32.5±8.6 (7-78) years took part in this study, of them 71.13% women and 81.68% nonsmokers completed the online questionnaire. The correlation between the number of olfactory disorders and reported COVID-19 patients in all provinces up to March 17, 2020 was highly significant (Spearman correlation coefficient = 0.87, P< 0.001). A sudden onset of olfactory dysfunction was reported in 76.24% of the participations and persistent anosmia in 60.90% from the start of COVID19 epidemic. In addition, 80.38% of participants reported concomitant olfactory and gustatory dysfunctions. Conclusion: An outbreak of olfactory dysfunction occurred in Iran during the COVID-19 epidemic. The exact mechanisms by which anosmia/hyposmia occurred in patients with COVID-19 call for further investigations.

18.
J Cell Physiol ; 234(9): 15357-15368, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30701533

RESUMO

Regeneration and functional recovery after peripheral nerve damage still remain a significant clinical problem. In this study, alginate/chitosan (alg/chit) hydrogel was used for the transplantation of olfactory ectomesenchymal stem cells (OE-MSCs) to promote peripheral nerve regeneration. The OE-MSCs were isolated from olfactory mucosa biopsies and evaluated by different cell surface markers and differentiation capacity. After creating sciatic nerve injury in a rat model, OE-MSCs were transplanted to the injured area with alg/chit hydrogel which was prepared and well-characterized. The prepared hydrogel had the porosity of 91.3 ± 1.27%, the swelling ratio of 379% after 240 min, weight loss percentages of 80 ± 5.56% after 14 days, and good blood compatibility. The 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay, 4',6-diamidino-2-phenylindole, and LIVE/DEAD staining were done to assay the behavior of OE-MSCs on alg/chit hydrogel and the results confirmed that the hydrogel can provide a suitable substrate for cell survival. For functional analysis, alg/chit hydrogel with and without OE- MSCs was injected into a 3-mm sciatic nerve defect of Wistar rats. The results of the sciatic functional index, hot plate latency, electrophysiological assessment, weight-loss percentage of wet gastrocnemius muscle, and histopathological examination using hematoxylin-eosin and Luxol fast blue staining showed that utilizing alg/chit hydrogel with OE-MSCs to the sciatic nerve defect enhance regeneration compared to the control group and hydrogel without cells.

19.
Stereotact Funct Neurosurg ; 95(4): 259-267, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28797005

RESUMO

OBJECTIVES: The outcomes of Gamma Knife radiosurgery (GKRS) for cavernous sinus meningioma (CSM) are presented, and factors possibly affecting outcome are investigated. METHODS: The medical records and imaging and procedural reports of 166 patients with CSM were retrospectively reviewed. Demographic data, procedural data, symptomatic improvement, radiological regression, and progression-free survival (PFS) rates were evaluated. RESULTS: There were 124 women and 42 men; including 44 postoperative and 122 primary GKRS cases. Mean follow-up was 32.4 months. Mean marginal dose was 13 Gy. Symptomatic improvement was seen in 40.4%, while neurologic deterioration occurred in 9.6%; 50% remained symptomatically stable. Radiological regression was noted in 57.2%; the tumor remained stable in 35.5%, and 7.2% of the patients experienced tumor progression. The actuarial 5- and 10-year PFS rates were 90.1% (±3.3) and 75.8% (±8.8), respectively. History of previous surgery or radiotherapy were associated with lower symptomatic improvement. Higher tumor coverage and isodose lines were accompanied with better radiological prognosis. However, a history of conventional radiotherapy, presence of facial sensory deficits at presentation, a higher tumor volume, and tumor extension to the suprasellar compartment affected the radiologic outcome negatively. CONCLUSION: This study revealed a high efficacy and safety for GKRS in both postoperative and primary GKRS patients. Achievability of a good profile of tumor coverage and isodose lines at radiosurgical planning predict a better outcome.


Assuntos
Seio Cavernoso/diagnóstico por imagem , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/terapia , Meningioma/diagnóstico por imagem , Meningioma/terapia , Radiocirurgia/tendências , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Prognóstico , Radiocirurgia/métodos , Estudos Retrospectivos , Resultado do Tratamento , Carga Tumoral/fisiologia , Adulto Jovem
20.
Int J Behav Med ; 24(4): 613-618, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28124192

RESUMO

PURPOSE: Understanding and increasing awareness on individual risk for HIV infection as well as HIV risk perception's effects on different behavioral outcomes for people who inject drugs (PWID) is important for policymaking and planning purposes. The objectives of the present study were to determine whether HIV risk perception was associated with greater injection and sexual risk-taking behaviors among PWIDs. METHOD: We surveyed 460 PWID in Kermanshah regarding their demographic characteristics, sexual risk behaviors, HIV risk perception, and drug-related risk behaviors in the month prior to the study. Three classes of HIV risk perception were identified using ordinal regression to determine factors associated with HIV risk perception. RESULTS: Study participants were categorized as follows: "low" (n = 100, 22%), "moderate" (n = 150, 32%), and "high" (n = 210, 46%) risk perception for becoming infected with HIV. The odds of categorizing as "high" risk for HIV was significantly greater in PWID that reported unprotected sex (adjusted odds ratio (AOR) 2.4, p value 0.02), receptive syringe sharing (AOR 1.8, p value 0.01), and multiple sex partners (AOR 1.4, p value 0.03). PWID who reported unprotected sex had 2.7 times the odds of "high" risk perception when compared to PWID with "low" risk perception. CONCLUSION: Findings show that PWID could rate their HIV risk with acceptable accuracy. Additionally, perceived HIV risk was associated with many risk factors for transmission of HIV, emphasizing the importance of developing targeted prevention and harm reduction programs for all domains of risk behaviors, both sexual and drug-related use.


Assuntos
Infecções por HIV/psicologia , Assunção de Riscos , Comportamento Sexual/estatística & dados numéricos , Abuso de Substâncias por Via Intravenosa/epidemiologia , Adulto , Estudos Transversais , Infecções por HIV/prevenção & controle , Infecções por HIV/transmissão , Humanos , Irã (Geográfico) , Percepção , Fatores de Risco , Inquéritos e Questionários
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