Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 22
Filtrar
3.
J Pers Med ; 13(12)2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-38138944

RESUMO

BACKGROUND: To investigate perception, adoption, and awareness on the part of otolaryngology and head and neck surgeons (OTO-HNS) of transoral robotic surgery (TORS). METHODS: Several items assessed: awareness/perception; access to TORS; training; indications and advantages/hurdles to TORS practice. A subanalysis was performed to assess differences according to the identified otolaryngological subspecialties. RESULTS: A total of 359 people completed the survey. Among subspecialties, while for otolaryngologists 30/359 (8.4%) and H&N surgeons 100/359 (27.9%) TORS plays an effective role in hospital stay, laryngologists frequently disagreed (54.3%). There was a lower incidence among rhinologists and otologists (1.9%). Pediatric surgeons (0.8%) reported a positive response regarding the adoption of robotic surgery, and head and neck specialists expressed an even greater response (14.2%). Low adherence was related to perceived cost-prohibitive TORS, by 50% of H&N surgeons. CONCLUSIONS: Perception, adoption, and knowledge about TORS play a key role in the application of the robotic system, significantly varying across subspecialties.

4.
J Pers Med ; 13(7)2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37511697

RESUMO

(1) Background: Non-squamous cell laryngeal carcinoma includes endothelial tumors, such as minor salivary gland tumors, lymphoepithelial tumors, neuroendocrine tumors, soft and hard tissue sarcomas, and malignant melanomas. (2) Methods: A state-of-the-art review using the MEDLINE/PUBMED, Google Scholar, Ovid Medline, Embase, and Scopus electronic databases was performed. (3) Conclusions: In order to optimize overall treatment outcomes, a multidisciplinary, patient-centered approach to the management of non-SCC of the larynx must be adopted universally; a national or international registry on non-SCC laryngeal cancer can be useful to improve understanding about the behavior of this kind of tumor.

5.
J Voice ; 36(6): 881.e5-881.e16, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33060006

RESUMO

OBJECTIVES: To confirm the data reported in our previous studies on the analysis of the variability of the electroglottographic signal in the pathological voice; to evaluate possible differences in variability between organic and functional pathologies; to identify any distinctive/typical EGG patterns for these pathologies. METHODS: One hundred twenty-five subjects were enrolled (36 euphonic and 89 pathological: 24 functional dysphonia, 21 bilateral vocal nodules, 23 unilateral polyps and 21 unilateral cysts). All subjects were studied with videolaryngostroboscopy, spectrographic analysis of voice and electroglottography (EGG). The EGG signal variability was then investigated using amplitude-speed combined analysis, by means of a proprietary software algorithm. Amplitude and Speed variation were expressed as a new parameter, the Variability Index (VI), calculated both for the whole EGG signal recorded (VI-tot) and in each phase of the glottic cycle (VI-Q, absolute value; VI-Q%, percentage value). RESULTS: In the comparison of VI values between pathological and normal groups, VI-tot and VI-Q2% (which corresponds to the final phase of vocal fold contact) were significantly greater in pathological subjects (P= 0.002). The comparison of VI values among subgroups of the various pathologies showed a difference for VI-tot (P< 0.0001) and VI-Q2% (P= 0.001); this difference was more marked in the cysts than in the functional dysphonia. The cut-off values of VI-tot and VI-Q2% were 0.191 and 18.17%, respectively (sensitivity and specificity 65.2% and 66.7% for VI-tot and 84.3% and 77.8% for VI-Q2%). CONCLUSIONS: The variability of the EGG signal investigated through the combined analysis of the amplitude and the speed of vibration using a proprietary algorithm software has proved useful not only to distinguish the normal voice from the pathological voice, but also to characterize which phases are more altered in the various voice pathologies studied, both functional and organic. Furthermore, the analysis of the VI parameter allowed to propose cut-off values characterized by a good sensitivity and specificity to discriminate dysphonia from the euphonic voice. Larger groups of patients will be needed to confirm these results.


Assuntos
Cistos , Disfonia , Humanos , Disfonia/diagnóstico , Fonação , Qualidade da Voz , Eletrodiagnóstico/métodos , Transtornos Psicofisiológicos
6.
J Voice ; 36(2): 249-255, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32600873

RESUMO

INTRODUCTION: To explore the prevalence of dysphonia in European patients with mild-to-moderate COVID-19 and the clinical features of dysphonic patients. METHODS: The clinical and epidemiological data of 702 patients with mild-to-moderate COVID-19 were collected from 19 European Hospitals. The following data were extracted: age, sex, ethnicity, tobacco consumption, comorbidities, general, and otolaryngological symptoms. Dysphonia and otolaryngological symptoms were self-assessed through a 4-point scale. The prevalence of dysphonia, as part of the COVID-19 symptoms, was assessed. The outcomes were compared between dysphonic and nondysphonic patients. The association between dysphonia severity and outcomes was studied through Bayesian analysis. RESULTS: A total of 188 patients were dysphonic, accounting for 26.8% of cases. Females developed more frequently dysphonia than males (P = 0.022). The proportion of smokers was significantly higher in the dysphonic group (P = 0.042). The prevalence of the following symptoms was higher in dysphonic patients compared with nondysphonic patients: cough, chest pain, sticky sputum, arthralgia, diarrhea, headache, fatigue, nausea, and vomiting. The severity of dyspnea, dysphagia, ear pain, face pain, throat pain, and nasal obstruction was higher in dysphonic group compared with nondysphonic group. There were significant associations between the severity of dysphonia, dysphagia, and cough. CONCLUSION: Dysphonia may be encountered in a quarter of patients with mild-to-moderate COVID-19 and should be considered as a symptom list of the infection. Dysphonic COVID-19 patients are more symptomatic than nondysphonic individuals. Future studies are needed to investigate the relevance of dysphonia in the COVID-19 clinical presentation.


Assuntos
COVID-19 , Disfonia , Teorema de Bayes , COVID-19/diagnóstico , COVID-19/epidemiologia , Disfonia/diagnóstico , Disfonia/epidemiologia , Feminino , Rouquidão , Humanos , Masculino , Prevalência
7.
Sleep Breath ; 25(4): 2141-2152, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33216312

RESUMO

PURPOSE: No study to date has described the overall landscape of sleep disorders management and training in otolaryngology departments of different countries. The aim of our study was to investigate and compare settings, diagnostic and therapeutic approaches and training programmes. METHODS: An international online survey was developed with the collaboration of the YO-IFOS (Young Otolaryngologists-International Federation of Otorhinolaryngological Societies) to assess the current practice of otolaryngologists in the management of sleep disorders. The survey also included a session dedicated to training. RESULTS: A total of 126 otolaryngologists completed the survey. The larger part of responses was collected from Central/South America and Europe. The majority of responders from South/Central America (97%) declared to be certified as sleep specialist while 49% of Europeans stated the opposite. Of responders 83% perform a drug-induced sleep endoscopy (DISE) before planning a possible surgical intervention. Soft palate and base of tongue interventions were the most common procedure, respectively performed in 94% and 79% of the cases. Residents were allowed to perform soft palate surgery in 77% of the cases. Upper airway stimulation (26% vs 10%), trans-oral robotic surgery (36% vs 11%) and radiofrequency of the base of the tongue (58% vs 25%) were preferred more frequently by European responders. The highest caseloads of soft palate surgery and bi-maxillary advancement were registered in the academic institutions. CONCLUSION: Significant concordance and few interesting divergences in diagnosis and treatment of sleep disorders were observed between nationalities and types of institution. Economic resources might have played a significant role in the therapeutic choice. Trainees' lack of exposure to certain interventions and to a sufficient caseload appeared to be the main burden to overcome.


Assuntos
Competência Clínica/estatística & dados numéricos , Otorrinolaringologistas/estatística & dados numéricos , Procedimentos Cirúrgicos Otorrinolaringológicos/estatística & dados numéricos , Transtornos do Sono-Vigília/terapia , América , Europa (Continente) , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Departamentos Hospitalares/estatística & dados numéricos , Humanos , Otolaringologia/estatística & dados numéricos
8.
Otolaryngol Head Neck Surg ; 164(1): 37-48, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32571152

RESUMO

OBJECTIVES: To investigate the existing published evidence supporting the role of laryngopharyngeal reflux (LPR) in the development of the select nonfunctional laryngeal diseases of laryngotracheal stenosis, granuloma, leukoplakia, and laryngeal infections. DATA SOURCES: PubMed, Cochrane Library, and Scopus. REVIEW METHODS: A systematic review was performed by 3 independent investigators for studies providing information about the prevalence and role of LPR in the development of laryngotracheal stenosis, granuloma, leukoplakia, and laryngeal infections. Diagnostic criteria and clinical outcome evaluation of included studies were analyzed with PRISMA criteria. RESULTS: Of the 64 relevant publications, 27 clinical and 4 basic science studies were included. Ten studies used objective reliable examinations for LPR diagnosis (eg, dual- or triple-probe or oropharyngeal pH monitoring, multichannel intraluminal impedance-pH monitoring, or pepsin detection). According to the bias analysis and the results of studies, the association between LPR and laryngotracheal stenosis, leukoplakia, laryngeal papillomatosis, or vocal fold granuloma remains poorly demonstrated. There is a notable heterogeneity among included studies regarding their inclusion criteria, diagnostic methods, and clinical outcome evaluation. Although some experimental findings support the involvement of bile salts and other gastroduodenal proteins active in alkaline pH, no included clinical studies assessed the role of nonacid and mixed reflux through multichannel intraluminal impedance-pH monitoring. CONCLUSION: The involvement of LPR in the development of leukoplakia, laryngotracheal stenosis, vocal fold granuloma, and laryngeal papillomatosis is currently not demonstrated. The potential relationship between LPR and these select nonfunctional laryngeal diseases must be confirmed through future clinical and experimental studies considering acid, nonacid, and mixed LPR.


Assuntos
Doenças da Laringe/etiologia , Refluxo Laringofaríngeo/complicações , Granuloma/etiologia , Humanos , Neoplasias Laríngeas/etiologia , Laringite/etiologia , Laringoestenose/etiologia , Leucoplasia/etiologia , Papiloma/etiologia , Fatores de Risco
9.
Artigo em Inglês | MEDLINE | ID: mdl-32718065

RESUMO

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) occurs due to upper airway obstruction resulting from anatomical and functional abnormalities. Upper airway collapsibility, particularly those involving the lateral pharyngeal wall (LPW), is known to be one of the main factors contributing to the pathogenesis of OSAS, leading the authors of the present study to propose different strategies in order to stiffen the pharyngeal walls to try to restore normal airflow. METHODS: An exhaustive review of the English literature on lateral pharyngeal wall surgery for the treatment of OSAS was performed using the PubMed electronic database. RESULTS: The research was performed in April 2020 and yielded approximately 2000 articles. However, considering the inclusion criteria, only 17 studies were included in the present study. CONCLUSIONS: The analyzed surgical techniques propose different parts of LPW on which to focus and a variable degree of invasivity. Despite the very promising results, no gold standard for the treatment of pharyngeal wall collapsibility has been proposed. However, thanks to progressive technological innovations and increasingly precise data analysis, the role of LPW surgery seems to be crucial in the treatment of OSAS patients.


Assuntos
Sistema Musculoesquelético , Humanos , Pulmão , Faringe/cirurgia , Apneia Obstrutiva do Sono/cirurgia
11.
Oral Oncol ; 109: 104848, 2020 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-32534362

RESUMO

BACKGROUND: The aim of this systematic review is to shed light the current indications and outcomes of transoral robotic surgery (TORS) supraglottic laryngectomy (SGL) in patients with supraglottic laryngeal cancer. METHODS: PubMed, Scopus and Cochrane Library were searched by three independent otolaryngologists from the Young Otolaryngologists of IFOS for studies investigating the indications, effectiveness and safety of TORS SGL. Surgical, functional, and survival outcomes have been investigated. Inclusion/exclusion criteria; demographic data; and clinical outcome evaluation of papers were analyzed using PRISMA criteria. RESULTS: A total of 14 papers met our inclusion criteria, accounting for 422 patients (335 males & 87 females). The tumor location mainly consisted of epiglottis (55.4%), aryepglottic fold (31.2%), and ventricular band (5.1%). The following tumor stages were considered: cT1 (35.8%); cT2 (48.6%) and cT3 (13.9%). Feeding tube and percutaneous endoscopic gastrostomy were used in 62.5% and 8.82% of patients, respectively. The 24-month local & regional control rates ranged from 94.3% to 100% and 87.5% to 94.0%, respectively. The 2-year and 5-year overall survival rates ranged from 66.7% to 88.0% and 78.7% to 80.2%, respectively. There was an important heterogeneity between studies with regard to the inclusion/exclusion criteria, follow-up times, complications analysis; surgical and functional outcomes. CONCLUSION: TORS SGL is an effective approach for treating patients with early stages supraglottic cancers. Future controlled studies are needed to compare functional and survival outcomes between TORS SGL and other surgical approaches. Recommendations have been provided for future studies for better inclusion of patients, analysis of complications and functional outcomes.

12.
Eur Arch Otorhinolaryngol ; 277(8): 2251-2261, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32253535

RESUMO

OBJECTIVE: To investigate the occurrence of olfactory and gustatory dysfunctions in patients with laboratory-confirmed COVID-19 infection. METHODS: Patients with laboratory-confirmed COVID-19 infection were recruited from 12 European hospitals. The following epidemiological and clinical outcomes have been studied: age, sex, ethnicity, comorbidities, and general and otolaryngological symptoms. Patients completed olfactory and gustatory questionnaires based on the smell and taste component of the National Health and Nutrition Examination Survey, and the short version of the Questionnaire of Olfactory Disorders-Negative Statements (sQOD-NS). RESULTS: A total of 417 mild-to-moderate COVID-19 patients completed the study (263 females). The most prevalent general symptoms consisted of cough, myalgia, and loss of appetite. Face pain and nasal obstruction were the most disease-related otolaryngological symptoms. 85.6% and 88.0% of patients reported olfactory and gustatory dysfunctions, respectively. There was a significant association between both disorders (p < 0.001). Olfactory dysfunction (OD) appeared before the other symptoms in 11.8% of cases. The sQO-NS scores were significantly lower in patients with anosmia compared with normosmic or hyposmic individuals (p = 0.001). Among the 18.2% of patients without nasal obstruction or rhinorrhea, 79.7% were hyposmic or anosmic. The early olfactory recovery rate was 44.0%. Females were significantly more affected by olfactory and gustatory dysfunctions than males (p = 0.001). CONCLUSION: Olfactory and gustatory disorders are prevalent symptoms in European COVID-19 patients, who may not have nasal symptoms. The sudden anosmia or ageusia need to be recognized by the international scientific community as important symptoms of the COVID-19 infection.


Assuntos
Ageusia/etiologia , Infecções por Coronavirus/diagnóstico , Coronavirus/isolamento & purificação , Tosse/etiologia , Mialgia/etiologia , Transtornos do Olfato/etiologia , Pneumonia Viral/diagnóstico , Olfato , Paladar , Adulto , Ageusia/epidemiologia , Betacoronavirus , COVID-19 , Infecções por Coronavirus/complicações , Infecções por Coronavirus/epidemiologia , Tosse/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mialgia/epidemiologia , Inquéritos Nutricionais , Transtornos do Olfato/epidemiologia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/epidemiologia , Prevalência , SARS-CoV-2 , Distúrbios do Paladar
13.
Eur Arch Otorhinolaryngol ; 276(12): 3389-3404, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31515662

RESUMO

OBJECTIVE: To develop clinical tools assessing the refluxogenic potential of foods and beverages (F&B) consumed by patients with laryngopharyngeal reflux (LPR). METHODS: European experts of the LPR Study group of the Young-Otolaryngologists of the International Federation of Oto-rhino-laryngological societies were invited to identify the components of Western European F&B that would be associated with the development of LPR. Based on the list generated by experts, four authors conducted a systematic review to identify the F&B involved in the development of esophageal sphincter and motility dysfunctions, both mechanisms involved in the development of gastroesophageal reflux disease and LPR. Regarding the F&B components and the characteristics identified as important in the development of reflux, experts developed three rational scores for the assessment of the refluxogenic potential of F&B, a dish, or the overall diet of the patient. RESULTS: Twenty-six European experts participated to the study and identified the following components of F&B as important in the development of LPR: pH; lipid, carbohydrate, protein composition; fiber composition of vegetables; alcohol degree; caffeine/theine composition; and high osmolality of beverage. A total of 72 relevant studies have contributed to identifying the Western European F&B that are highly susceptible to be involved in the development of reflux. The F&B characteristics were considered for developing a Refluxogenic Diet Score (REDS), allowing a categorization of F&B into five categories ranging from 1 (low refluxogenic F&B) to 5 (high refluxogenic F&B). From REDS, experts developed the Refluxogenic Score of a Dish (RESDI) and the Global Refluxogenic Diet Score (GRES), which allow the assessment of the refluxogenic potential of dish and the overall diet of the LPR patient, respectively. CONCLUSION: REDS, RESDI and GRES are proposed as objective scores for assessing the refluxogenic potential of F&B composing a dish or the overall diet of LPR patients. Future studies are needed to study the correlation between these scores and the development of LPR according to impedance-pH study.


Assuntos
Bebidas , Dieta , Alimentos , Refluxo Laringofaríngeo/dietoterapia , Otorrinolaringologistas , Adulto , Impedância Elétrica , Esofagite Péptica , Feminino , Humanos , Concentração de Íons de Hidrogênio , Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/metabolismo , Masculino , Pessoa de Meia-Idade , Otolaringologia , Índice de Gravidade de Doença
14.
Laryngoscope ; 129(9): E329-E341, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30892725

RESUMO

OBJECTIVES: To investigate the role of laryngopharyngeal reflux (LPR) in the development of benign lesions of the vocal folds (BLVF). METHODS: PubMed, Cochrane Library, and Scopus were searched by three independent investigators for articles published between January 1990 and November 2018 providing substantial information about the role of LPR in the development of nodules, polyps, cysts, Reinke's edema, and sulcus vocalis. Inclusion, exclusion, diagnostic criteria and clinical outcome evaluation of included studies were analyzed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria. RESULTS: Of the 155 relevant publications, 42 studies were included. Thirty-five were clinical studies and seven were experimental research studying the impact of reflux on vocal fold tissue. Only seven clinical studies utilized objective LPR diagnoses (pH monitoring), suggesting an association between LPR and the development of nodules, polyps, and Reinke's edema. These studies were characterized by a substantial heterogeneity due to discrepancies in inclusion/exclusion criteria, diagnostic methods, and clinical outcome evaluation. The few basic science studies on this topic support that LPR creates an environment that may predispose to BLVF through changes in defense mechanisms of the vocal folds, cell-to-cell dehiscence, inflammatory reaction of the vocal folds, and reaction to phonotrauma. CONCLUSIONS: Caustic mucosal injury from LPR could cause increased susceptibility of the vocal fold mucosa to injury and subsequent formation of nodules, polyps, or Reinke's edema. However, the heterogeneity and the low number of high-quality studies limit the ability to draw definitive conclusions. Future clinical and experimental studies are needed to better identify the role of reflux in development of BLVF. Laryngoscope, 129:E329-E341, 2019.


Assuntos
Doenças da Laringe/etiologia , Edema Laríngeo/etiologia , Refluxo Laringofaríngeo/complicações , Pólipos/etiologia , Ensaios Clínicos como Assunto , Humanos , Refluxo Laringofaríngeo/patologia , Estudos Prospectivos , Estudos Retrospectivos , Prega Vocal/patologia
15.
Otolaryngol Head Neck Surg ; 160(5): 762-782, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30744489

RESUMO

OBJECTIVE: To review the current literature about the epidemiology, clinical presentation, diagnosis, and treatment of laryngopharyngeal reflux (LPR). DATA SOURCES: PubMed, Cochrane Library, and Scopus. METHODS: A comprehensive review of the literature on LPR epidemiology, clinical presentation, diagnosis, and treatment was conducted. Using the PRISMA statement, 3 authors selected relevant publications to provide a critical analysis of the literature. CONCLUSIONS: The important heterogeneity across studies in LPR diagnosis continues to make it difficult to summarize a single body of thought. Controversies persist concerning epidemiology, clinical presentation, diagnosis, and treatment. No recent epidemiologic study exists regarding prevalence and incidence with the use of objective diagnostic tools. There is no survey that evaluates the prevalence of symptoms and signs on a large number of patients with confirmed LPR. Regarding diagnosis, an increasing number of authors used multichannel intraluminal impedance-pH monitoring, although there is no consensus regarding standardization of the diagnostic criteria. The efficiency of proton pump inhibitor (PPI) therapy remains poorly demonstrated and misevaluated by incomplete clinical tools that do not take into consideration many symptoms and extralaryngeal findings. Despite the recent advances in knowledge about nonacid LPR, treatment protocols based on PPIs do not seem to have evolved. IMPLICATIONS FOR PRACTICE: The development of multichannel intraluminal impedance-pH monitoring and pepsin and bile salt detection should be considered for the establishment of a multiparameter diagnostic approach. LPR treatment should evolve to a more personalized regimen, including diet, PPIs, alginate, and magaldrate according to individual patient characteristics. Multicenter international studies with a standardized protocol could improve scientific knowledge about LPR.


Assuntos
Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/terapia , Humanos , Refluxo Laringofaríngeo/etiologia
16.
J Voice ; 33(2): 135-142, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29242052

RESUMO

OBJECTIVES: In To analyze laryngostroboscopic findings and ENT/phoniatric examination results in a group of singing students and in a control group of non-singing subjects to emphasize the importance of ENT/phoniatric examination and of laryngostroboscopy before taking up singing. METHODS: 56 singing students and 60 healthy euphonic non-singer volunteers were recruited. In each subject a perceptual assessment and a self-assessment (VHI) of the voice were performed. The singing students filled out the Singing-VHI. All subjects underwent flexible fiberoptic endoscopy and laryngostroboscopy. All subjects were evaluated through the Reflux Symptom Index (RSI) and the Reflux Finding Score (RFS). RESULTS: At laryngostroboscopy, 60.7% of students presented pathological findings, versus 20% of controls (P < 0.0001). Incomplete glottic closure (35.7% vs. 13.3%), supraglottic hypertonus (16.1% vs. 5%), organic lesions (bilateral nodules, cysts, sulcus vergeture) (17.9% vs. 3.3%), posterior erythema (16.1% vs. 5%) and laryngeal edema (14.3% vs 3.3%) were more frequent in the students. The most common symptoms in singers were phonasthenia (37.5 % vs 6.7%; P = 0.0001) and mucus sensation (17.9% vs. 5%, P = 0.03). S-VHI showed higher values in students with pathological laryngostroboscopy (P < 0.0001). Finally, average RSI and RFS were higher in students. CONCLUSIONS: Due to the high percentage of organic and functional voice disorders in singing students, it would be desirable that every subject who is going to start singing underwent an ENT/phoniatric investigation with videostrobolaryngoscopy to ascertain vocal folds healthy condition.


Assuntos
Doenças da Laringe/diagnóstico por imagem , Laringoscopia , Laringe/diagnóstico por imagem , Canto , Estroboscopia , Estudantes , Distúrbios da Voz/diagnóstico por imagem , Qualidade da Voz , Adulto , Percepção Auditiva , Estudos de Casos e Controles , Feminino , Tecnologia de Fibra Óptica , Humanos , Doenças da Laringe/fisiopatologia , Doenças da Laringe/psicologia , Laringe/fisiopatologia , Masculino , Autoimagem , Distúrbios da Voz/fisiopatologia , Distúrbios da Voz/psicologia , Adulto Jovem
17.
Eur J Hum Genet ; 25(5): 651-655, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28272537

RESUMO

Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families. A thorough clinical evaluation of the patients, with whole skeleton X-ray, metabolic assessment and liver ultrasound failed to reveal signs of skeletal dysplasia, metabolic and hepatic alterations. This is the first report showing that the PCYT1A gene can be responsible for isolated forms of retinal dystrophy, particularly without any skeletal involvement, thus further expanding the phenotypic spectrum induced by mutations in this gene.


Assuntos
Colina-Fosfato Citidililtransferase/genética , Mutação , Distrofias Retinianas/genética , Adolescente , Criança , Feminino , Humanos , Masculino , Fenótipo , Distrofias Retinianas/diagnóstico
18.
J Voice ; 31(3): 379.e13-379.e20, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27495968

RESUMO

OBJECTIVE: Phonomicrosurgery is generally considered to be the treatment of choice for removing vocal fold polyps. However, specific techniques of voice therapy may represent, in selected cases and under certain conditions, a noninvasive therapeutic option for the treatment of such laryngeal lesions. The aim of the present study is to longitudinally assess, in terms of clinical outcomes and quality of life, two groups of patients with cordal polyps, treated either with standard surgery plus standard voice therapy or with a specific training of voice therapy alone, which we have called "Voice Therapy Expulsion." STUDY DESIGN: This study is a randomized controlled trial. METHODS: A total of 150 patients with vocal fold polyps were randomly assigned to either standard surgery or "voice therapy expulsion" protocol. The trial was carried out at the Division of Phoniatrics and Audiology of the Second University of Naples and at the Division of Communication Disorders of Local Health Unit (3 Naples South) from January 2010 to December 2013. A thorough phoniatric evaluation, including laryngostroboscopy, acoustic voice analysis, global grade of dysphonia, instability, roughness, breathiness, asthenia, and strain scale, Voice Handicap Index, and Voice-Related Quality of Life, was performed by using standardized tools, at baseline, at the end of the treatment, and up to 1 year after treatment. RESULTS: We found no significant differences between the two experimental groups in terms of clinical outcomes and personal satisfaction. However, "Voice Therapy Expulsion" was associated with higher scores for quality of life at endpoint evaluation. CONCLUSIONS: Besides phonosurgery, this specific "Voice Therapy Expulsion" technique should be considered as a valid, noninvasive, and well-tolerated therapeutic option for the treatment of selected patients with vocal fold polyps.


Assuntos
Doenças da Laringe/cirurgia , Microcirurgia/métodos , Pólipos/cirurgia , Prega Vocal/cirurgia , Distúrbios da Voz/cirurgia , Qualidade da Voz , Treinamento da Voz , Humanos , Itália , Doenças da Laringe/diagnóstico , Doenças da Laringe/fisiopatologia , Microcirurgia/efeitos adversos , Pólipos/diagnóstico , Pólipos/fisiopatologia , Qualidade de Vida , Recuperação de Função Fisiológica , Inquéritos e Questionários , Fatores de Tempo , Resultado do Tratamento , Prega Vocal/fisiopatologia , Distúrbios da Voz/diagnóstico , Distúrbios da Voz/fisiopatologia
19.
Int J Surg ; 33 Suppl 1: S154-8, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27392720

RESUMO

Presbyphagia represents the physiological aging evolution of the swallowing function. It is related to the natural changes of the anatomical structures involved in the swallowing process. These age-related modifications can be asymptomatic in the early stages of life, but in the late stages, they could lead to dysphagia, aspiration pneumonia, dehydration, or malnutrition, reducing the quality of life. Videofluoromanometry (VFM) is the combined study of videofluoroscopy (VFS) and oropharyngeal manometry that allows simultaneous identification of functional and morphological features of the presbyphagia, also in asymptomatic otherwise healthy elderly adults. This study retrospectively evaluated the effectiveness of the VFM and the role of a multidisciplinary team of specialists in the analysis of a large cohort of old patients with presbyphagia, with the objective of achieving early diagnosis of the disease and the best therapy to delay the development of complications such as aspiration pneumonia, malnutrition, and dehydration.


Assuntos
Deglutição/fisiologia , Fluoroscopia , Manometria , Orofaringe/fisiologia , Idoso , Envelhecimento/fisiologia , Transtornos de Deglutição/diagnóstico , Feminino , Humanos , Masculino , Estudos Retrospectivos
20.
J Voice ; 30(1): 88-92, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25868433

RESUMO

OBJECTIVES: The aim of the present study had been to examine the relationships between menstrual dysphonia and measures of psychosocial distress, in a sample of female professional voice users. DESIGN AND METHODS: This is a prospective study of 52 consecutive professional voice users, aged 18-40 years, affected by transient dysphonia related to the menstrual cycle and recruited in the Division of Phoniatrics and Audiology of the Second University of Naples, from April 2011 to September 2014. The following evaluation protocol was used: videoendoscopy, the GIRBAS scale, the Voice Handicap Index, and the determination of sexual hormonal plasma levels both during the menstrual and the luteal phase of the cycle. Furthermore, we measured, in all patients, the levels of perceived disability and quality of life during and after the dysphonia episodes by means of the Manchester Short Assessment of Quality of Life and the Sheehan disability scale. RESULTS: Laryngoscopic evaluation revealed that only minor morphologic changes were present during the first days of the follicular phase, usually returning to normal morphology after the menstrual period was over. However, we found that dysphonia episodes of varying degree were present in most evaluated subjects; women with a moderate degree of dysphonia also had a lower quality of life and greater overall disability, during menses. CONCLUSIONS: Despite minimal morphologic signs of laryngeal pathology, menstrual dysphonia might represent a disease which is frequent among female professional voice users, which in turn is associated with a certain degree of disability and lower quality of life during premenstrual and menstrual phases.


Assuntos
Avaliação da Deficiência , Ciclo Menstrual , Ocupações , Qualidade de Vida , Distúrbios da Voz/diagnóstico , Qualidade da Voz , Adolescente , Adulto , Biomarcadores/sangue , Feminino , Hormônios/sangue , Humanos , Itália , Descrição de Cargo , Laringoscopia , Ciclo Menstrual/sangue , Saúde Ocupacional , Valor Preditivo dos Testes , Estudos Prospectivos , Canto , Inquéritos e Questionários , Ensino , Telefone , Gravação em Vídeo , Distúrbios da Voz/sangue , Distúrbios da Voz/etiologia , Distúrbios da Voz/fisiopatologia , Distúrbios da Voz/psicologia , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA