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OBJECTIVES: Evaluate the measurement properties of the Dizziness Handicap Inventory (DHI) using item response theory in patients diagnosed with vestibular migraine (VM) and Meniere's disease (MD). DESIGN: One hundred twenty-five patients diagnosed with VM and 169 patients diagnosed with MD by a vestibular neurotologist according to the Bárány Society criteria in two tertiary multidisciplinary vestibular clinics and who completed the DHI at their initial visit, were included in the study. The DHI (total score and individual items) was analyzed using the Rasch Rating Scale model for patients in each subgroup, VM and MD, and as a whole group. The following categories were assessed: rating-scale structure, unidimensionality, item and person fit, item difficulty hierarchy, person-item match, and separation index, standard error of measurement, and minimal detectable change (MDC). RESULTS: Patients were predominantly female (80% of the VM subgroup and 68% of the MD subgroup) with a mean age of 49.9 ± 16.5 years and 54.1 ± 14.2 years, respectively. The mean total DHI score for the VM group was 51.9 ± 22.3 and for the MD group was 48.5 ± 26.6 ( p > 0.05). While neither all items nor the separate constructs met all criteria for unidimensionality (i.e., items measuring a single construct), post hoc analysis showed that the all-item analysis supported a single construct. All analyses met the criterion for showing a sound rating scale and acceptable Cronbach's alpha (≥0.69). The all-item analysis showed the most precision, separating the samples into three to four significant strata. The separate-construct analyses (physical, emotional, and functional) showed the least precision, separated the samples into less than three significant strata. Regarding MDC, the MDC remained consistent across the analyses of the different samples; approximately 18 points for the full analyses and approximately 10 points for the separate construct (physical, emotional, and functional). CONCLUSIONS: Our evaluation of the DHI using item response theory shows that the instrument is psychometrically sound and reliable. The all-item instrument fulfills criteria for essential unidimensionality but does seem to measure multiple latent constructs in patients with VM and MD, which has been reported in other balance and mobility instruments. The current subscales did not show acceptable psychometrics, which is in line with multiple recent studies favoring the use of the total score. The study also shows that the DHI is adaptable to episodic recurrent vestibulopathies. The total score shows better precision and separation of subjects in up to four strata compared to the separate construct that separate subjects into less than three strata. The measurement error smallest detectable change was found in our analysis to be 18 points, which means any change in the DHI of less than 18 points is not likely to be clinically significant. The minimal clinically important difference remains indeterminate.
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Doença de Meniere , Transtornos de Enxaqueca , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Tontura/diagnóstico , Doença de Meniere/diagnóstico , Psicometria , Inquéritos e Questionários , Vertigem , Transtornos de Enxaqueca/diagnósticoRESUMO
PURPOSE: Meniere's Disease is a condition known for its recurrent vertigo, fluctuating sensorineural hearing loss, aural fullness, and tinnitus. Previous studies have demonstrated significant influence of placebo treatments. Our objective was to quantify the magnitude of the placebo effect in randomized controlled trials for Meniere's Disease. MATERIALS AND METHODS: A systematic review was performed by searching PubMed, SCOPUS, CINAHL, and Cochrane databases from inception through September 27, 2022. Data extraction, quality rating, and risk of bias assessment were performed by two independent reviewers. A meta-analysis of mean differences with 95 % confidence interval, weighted summary proportions, and proportion differences were calculated using random and fixed effects models. RESULTS: A total of 15 studies (N = 892) were included in the review. Significant improvement was seen in the functional level scores of the pooled placebo groups, with a mean difference of -0.6 points, (95%CI: -1.2 to -0.1). There was no difference in pure tone audiometry, speech discrimination score, or vertigo frequency at 1 and 3 months for the placebo group. Patient-reported vertigo episodes were improved in 52.5 % (95%CI: 39.2 to 65.5) of the placebo group and was significantly less than the pooled experimental group (90.1 %, 95%CI: 39.2 to 65.5, p < 0.001). CONCLUSIONS: The placebo effect in Meniere's Disease trials is associated with some symptomatic improvement in subjective outcomes, such as patient reported vertigo episodes. However, the clinical significance is questionable across other outcomes measures, especially when analyzing objective data. The extent and strength of the placebo effect continues to be a hurdle in the search for better treatment options.
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Doença de Meniere , Zumbido , Humanos , Doença de Meniere/tratamento farmacológico , Efeito Placebo , Ensaios Clínicos Controlados Aleatórios como Assunto , Vertigem/etiologia , Vertigem/tratamento farmacológico , Zumbido/etiologia , Zumbido/terapiaRESUMO
PURPOSE: To determine factors associated with steroid responsiveness and efficacy of biologic disease-modifying anti-rheumatic (DMARD) use in patients with Cogan Syndrome (CS). METHODS: A systematic search of Cochrane Library, PubMed, CINAHL, and Scopus was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Any study describing audiometric or vestibular data and pharmacologic treatment in patients with CS was included. Due to limited literature, only case reports/case series were included. RESULTS: Seventy case reports or case series studies comprising 79 individual cases of CS were included. A difference in vestibular symptoms with a higher prevalence in the steroid-resistant group than the steroid-responsive group was found (79.5% vs 57.9%, p = 0.04). Eighteen (60.0%) patients treated only with oral steroids had no audiological improvement, while twelve (n = 12; 85.7%) patients treated with biologic DMARD showed audiological improvement. The steroid-responsive group had an overall better response to DMARDs than the steroid-resistant group (62.1% vs 45.0%; 100.0% vs 77.8%). CONCLUSIONS: Our study synthesized the available literature to better characterize steroid resistance in patients with Cogan syndrome and treatment outcomes. Vestibular symptoms were noted to be more prevalent in patients who were eventually labeled as steroid resistant. There were higher rates of audiological improvement in patients given biologic DMARDs rather than conventional DMARDs or steroids only. Further studies are needed to characterize each individual vestibular symptom and investigate the utility and timing of biologic DMARDs in managing patients with Cogan syndrome.
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OBJECTIVE: We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg. METHODS: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance. RESULTS: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients. CONCLUSION: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.
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Neuropatias Amiloides Familiares , Benzoxazóis , Humanos , Masculino , França/epidemiologia , Feminino , Pessoa de Meia-Idade , Idoso , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/tratamento farmacológico , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/epidemiologia , Estudos Transversais , Adulto , Benzoxazóis/uso terapêutico , Benzoxazóis/efeitos adversos , Idoso de 80 Anos ou mais , Pré-Albumina/genéticaRESUMO
OBJECTIVES: To determine the prevalence of polypharmacy in patients presenting with dizziness to a tertiary neurotology clinic and analyze the association between polypharmacy and clinical characteristics. DESIGN: Retrospective, cross-sectional review. Demographics, symptoms, diagnoses, medications, audiometry, dizziness handicap index (DHI) scores, and cognitive failure questionnaire (CFQ) scores were extracted from charts of patients seen as new patients from September 1, 2019, to March 31, 2020, with a primary complaint of dizziness. RESULTS: A total of 382 patients were included. More than two-thirds of the patients (n = 265, 69.4%) met criteria for polypharmacy (≥5 medications), of which most (n = 249, 94.0%) were prescribed a potentially ototoxic drug. Approximately 10% of patients were taking five or more ototoxic medications (oto-polypharmacy). Polypharmacy was correlated to age and was more common for patients with diabetes, hypertension, other cardiovascular comorbidities, and depression (odds ratio [OR], 3.73-6.67; p < 0.05). Polypharmacy was twice as likely in patients with mild to moderate hearing loss (OR 2.02 [1.24-3.29] and OR 2.13 [1.06-4.27], respectively; p < 0.05) and ~1.5× more likely in patients who had moderate to severe DHI scores (OR 1.65 [1.05-2.59] and OR 1.63 [1.00-2.65], respectively; p < 0.05). Patients with polypharmacy also had higher CFQ scores compared to those without polypharmacy (CFQ 32.5 [19.0-48.0] versus CFQ 25.0 [13.0-40.0]; p = 0.002. Oto-polypharmacy was more common for patients with lightheadedness as a dizziness descriptor (OR 3.16 [1.56-6.41]; p < 0.01). However, oto-polypharmacy was only more common for patients with mild to moderate hearing loss (OR 2.69 [1.33-5.45] and OR 2.86 [1.31-6.20], respectively; p < 0.01) and severe DHI scores (2.31 [1.12-4.77], p = 0.02). CONCLUSIONS: The prevalence of polypharmacy in patients with vestibular disorders is high. Some of the medications that patients are on are also potentially ototoxic at variable degrees. Polypharmacy is more common when lightheadedness is one of the dizziness descriptors and seems to be associated with worse scores on patient-reported outcome measures (DHI, CFQ). Medication reconciliation and multidisciplinary involvement could help to better address polypharmacy in this patient population. However, further investigation is needed to elucidate polypharmacy's role in symptom presentation, vestibular testing results, and therapeutic strategies.
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Tontura , Polimedicação , Humanos , Tontura/induzido quimicamente , Tontura/epidemiologia , Tontura/diagnóstico , Estudos Retrospectivos , Prevalência , Estudos Transversais , Vertigem/diagnósticoRESUMO
OBJECTIVE: To determine the prevalence of hearing loss (HL) in patients with systemic lupus erythematosus (SLE), describe frequency-specific hearing threshold changes in this patient population as compared to age-matched control, and compare the clinical and serological profiles of patients with SLE with and without HL. METHODS: A systematic review querying four databases (PubMed, Web of Science, Scopus, and Cochrane) was performed. Meta-analysis of available data was performed to determine the overall prevalence and odds ratio (OR) of HL, and compare mean differences in frequency-specific hearing thresholds between patients with SLE and control. Additionally, meta-analysis of proportions allowed for comparison of disease features present in patients with SLE with and without sensorineural HL. RESULTS: This review included 17 studies reporting on 1326 patients (635 with SLE and 691 control). The pooled prevalence of HL in patients with SLE was 27%. In comparison to control, patients with SLE had a significantly higher odds of HL (OR 14.6, 95% CI: 8.5 to 25.0). Mean air-conduction hearing thresholds in patients with SLE were significantly elevated relative to control at 125 and 250 Hz. Mean bone-conduction hearing thresholds were significantly elevated in patients with SLE across all measured frequencies except at 3000 and 6000 Hz compared to control. Disease features did not significantly differ between patients with SLE with and without HL. CONCLUSION: Compared to age-matched control, patients with SLE have increased odds of HL, which primarily manifests at low frequencies. Therefore, this patient population requires greater audiologic attention.
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Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , Humanos , PrevalênciaRESUMO
OBJECTIVE: To characterize the relationship between dizziness severity and cognitive dysfunction in vestibular migraine (VM) patients. METHODS: Dizziness Handicap Inventory (DHI) and Cognitive Failures Questionnaire (CFQ) scores were compared pre- and post-treatment in a cohort of definite VM patients who underwent evaluation in a multidisciplinary clinic from 2016 to 2020. RESULTS: 44 patients were included. DHI reduction of 11.96 (SD 11.49) (p < 0.001) from an initial mean of 58.36 (22.05) and CFQ reduction of 4.57 (12.20) (p = 0.017) from an initial mean of 47.66 (19.12) were demonstrated. Both pre- and post-treatment DHI scores correlated with pre- and post-treatment CFQ scores (r = 0.537, p < 0.001 and r = 0.667, p < 0.001, respectively). Change in DHI score correlated with change in CFQ score (r = 0.351, p = 0.019). CONCLUSIONS: Cognitive dysfunction in VM patients is correlated with dizziness severity. The DHI may fail to thoroughly assess cognitive dysfunction in VM patients. Additionally, multidisciplinary treatment of VM reduces both dizziness severity and cognitive dysfunction.
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Disfunção Cognitiva/etiologia , Tontura/etiologia , Transtornos de Enxaqueca/complicações , Vestíbulo do Labirinto , Adulto , Idoso , Disfunção Cognitiva/prevenção & controle , Estudos de Coortes , Tontura/prevenção & controle , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/terapia , Gravidade do Paciente , Equipe de Assistência ao Paciente , Qualidade de Vida , Inquéritos e Questionários , Resultado do TratamentoRESUMO
PURPOSE: To identify patient factors that influence response to therapy in patients with vestibular migraines. METHODS: A retrospective cohort study was performed at a university-based tertiary medical center. PATIENTS: 47 patients evaluated for treatment of definite vestibular migraine, per the Barany Society criteria, from 2015 to 2019. INTERVENTIONS: A protocol of antidepressants, antiepileptics, beta blockers, and vestibular rehabilitation. Patients failing initial therapy received botulinum toxin per the PREEMPT protocol. Vestibular rehabilitation for motion desensitization in case of known vestibular dysfunction. OUTCOME MEASURES: Quality of life measured per the dizziness handicap inventory (DHI). Pre- and post-treatment DHI scores (total and domain scores) and change in DHI were correlated against patient-specific variables to determine factors associated with change in response to therapy. Patient factors included demographic variables, medical comorbidities, comorbid otologic or pain symptoms, treatment modality, and initial DHI scores. RESULTS: 47 patients underwent therapy for vestibular migraine. This population had a significant DHI reduction of 17.3 ± 25.2 (p < 0.001) with therapy. Univariate analysis showed that female gender, comorbid benign paroxysmal positional vertigo, and high initial DHI were significantly associated with greater reduction in DHI scores (ß = - 7.92, p = 0.033; ß = - 18.65, p = 0.028; ß = - 0.458, p = 0.016, respectively). Conversely, cervicalgia and oscillopsia were significantly associated with a lower reduction in DHI scores (ß = 5.525, p = 0.024 and ß = 21.48, p = 0.027, respectively). CONCLUSIONS: Vestibular migraine is a complex disorder with heterogeneous response to therapy. This study shows that patient-specific factors of gender, cervicalgia, oscillopsia, BPPV, and high DHI scores on presentation may influence response to common vestibular migraine therapy.
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Transtornos de Enxaqueca/tratamento farmacológico , Qualidade de Vida , Adulto , Idoso , Idoso de 80 Anos ou mais , Vertigem Posicional Paroxística Benigna/epidemiologia , Tontura/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/psicologia , Prognóstico , Estudos Retrospectivos , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/tratamento farmacológicoRESUMO
The COVID-19 pandemic has spurred clinical and scientific interest in the cardiology community because of the significantly enhanced vulnerability of patients with underlying cardiac diseases. COVID-19 vaccination is therefore of vital importance to the patients we see in our clinics and hospitals every day and should be promoted by the medical community, especially cardiologists. In view of vaccine-preventable diseases, the association between influenza and cardiovascular complications has been widely investigated. Several studies have found a substantially elevated risk of hospital admission for acute myocardial infarction in the first 7 days after laboratory-confirmed influenza, with incidence ratios ranging from 6.05-8.89. The effectiveness of the influenza vaccine to protect against acute myocardial infarction is about 29%. This effectiveness is comparable to or even better than that of existing secondary preventive therapies, such as statins (prevention rate approximately 36%), antihypertensives (prevention rate approximately 15-18%), and smoking cessation (prevention rate approximately 26%). As the influenza season is rapidly approaching, this Point of View article serves as a call to action: Cardiologists should promote influenza vaccination and actively advice their patients to get the seasonal influenza vaccination.
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As states begin issuing progressive deconfinement guidelines, hospitals and institutions are starting to reopen for elective procedures and consultations. Vestibular clinicians are opening their practices to evaluate, test, or treat patients with dizziness and balance problems. The following document, requested by the American Balance Society, collates the current information about the virus, including transmission from asymptomatic carriers, decontamination, and other safety protocols, and provides a return to work guidance for clinicians caring for this population of patients, promoting provider, patient, and staff safety.
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Infecções por Coronavirus/prevenção & controle , Controle de Infecções/métodos , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/reabilitação , Testes de Função Vestibular/instrumentação , Betacoronavirus , COVID-19 , Infecções por Coronavirus/transmissão , Desinfecção/métodos , Teste do Impulso da Cabeça , Humanos , Equipamento de Proteção Individual , Pneumonia Viral/transmissão , Guias de Prática Clínica como Assunto , Retorno ao Trabalho , SARS-CoV-2 , Potenciais Evocados Miogênicos VestibularesRESUMO
OBJECTIVE: The relationship of cognitive dysfunction and vestibular dysfunction has been established by various studies. However, the available Patient-Reported Outcome Measures questionnaires that address the main vestibular complaint fail to highlight this domain of dysfunction in this patient population. The objective of this study was to quantify and compare cognitive impairment using a validated cognitive questionnaire across several vestibular diagnoses. STUDY DESIGN: Cross-sectional study of 186 patients presenting to a tertiary care vestibular clinic with a diagnosis of vestibular migraine, Meniere's disease (MD), benign positional paroxysmal vertigo, or persistent postural-perceptual dizziness (PPPD). Patients completed the Cognitive Failures Questionnaire (CFQ) and the Dizziness Handicap Inventory (DHI). RESULTS: Mean CFQ scores for this cohort were significantly higher than similarly aged published controls (34.9/100 versus 31.3/100; p < 0.01; mean age, 45 years) as well as published controls between 65 and 74 years of age (34.9/100 versus 31.2/100; p < 0.05). Patients with PPPD or combined vestibular migraine and MD scored the highest on the CFQ and significantly higher than controls (45.1/100, p = 0.001; and 44.1/100, p = 0.006, respectively). Patients with benign positional paroxysmal vertigo had lower scores than normal controls. There is a weak but significant correlation between CFQ and DHI (r = 0.31; p < 0.001). Multivariate linear regression shows that CFQ scores were largely driven by the duration of symptoms (p < 0.001), type of diagnosis (notably PPPD; p = 0.026), and DHI (p < 0.001). CONCLUSIONS: Our results indicate that cognitive impairment is prevalent with chronic vestibular disorders, even in peripheral disorders such as MD. The duration of vestibular symptoms before diagnosis (and management), as well as certain etiologies, may play a bigger role in cognitive disability than age. This is not currently well-addressed in Patient-Reported Outcome Measures questionnaires and may be overlooked at the time of the diagnosis. Appropriate identification may help tailor treatment, namely rehabilitation programs, to individual patients.
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Disfunção Cognitiva , Doenças Vestibulares , Idoso , Vertigem Posicional Paroxística Benigna , Disfunção Cognitiva/epidemiologia , Estudos Transversais , Tontura/epidemiologia , Humanos , Pessoa de Meia-Idade , Doenças Vestibulares/complicaçõesRESUMO
BACKGROUND: Continuing medical education (CME) is essential to developing and maintaining high quality primary care. Traditionally, CME is delivered face-to-face, but due to geographical distances, and pressure of work in Bangladesh, general practitioners (GPs) are unable to relocate for several days to attend training. Using chronic obstructive pulmonary disease (COPD) as an exemplar, we aimed to assess the feasibility of blended learning (combination of face-to-face and online) for GPs, and explore trainees' and trainers' perspectives towards the blended learning approach. METHODS: We used a mixed-methods design. We trained 49 GPs in two groups via blended (n = 25) and traditional face-to-face approach (n = 24) and assessed their post-course knowledge and skills. The COPD Physician Practice Assessment Questionnaire (COPD-PPAQ) was administered before and one-month post-course. Verbatim transcriptions of focus group discussions with 18 course attendees and interviews with three course trainers were translated into English and analysed thematically. RESULTS: Forty GPs completed the course (Blended: 19; Traditional: 21). The knowledge and skills post course, and the improvement in self-reported adherence to COPD guidelines was similar in both groups. Most participants preferred blended learning as it was more convenient than taking time out of their busy work life, and for many the online learning optimised the benefits of the subsequent face-to-face sessions. Suggested improvements included online interactivity with tutors, improved user friendliness of the e-learning platform, and timing face-to-face classes over weekends to avoid time-out of practice. CONCLUSIONS: Quality improvement requires a multifaceted approach, but adequate knowledge and skills are core components. Blended learning is feasible and, with a few caveats, is an acceptable option to GPs in Bangladesh. This is timely, given that online learning with limited face-to-face contact is likely to become the norm in the on-going COVID-19 pandemic.
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Infecções por Coronavirus , Educação a Distância/métodos , Educação Médica Continuada , Clínicos Gerais/educação , Pandemias , Pneumonia Viral , Doença Pulmonar Obstrutiva Crônica , Ensino , Atitude do Pessoal de Saúde , Bangladesh/epidemiologia , Betacoronavirus , COVID-19 , Controle de Doenças Transmissíveis/métodos , Instrução por Computador , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Educação Médica Continuada/organização & administração , Educação Médica Continuada/tendências , Estudos de Viabilidade , Humanos , Modelos Educacionais , Avaliação das Necessidades , Pandemias/prevenção & controle , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/terapia , Melhoria de Qualidade , SARS-CoV-2 , Ensino/normas , Ensino/tendênciasRESUMO
OBJECTIVE: To determine the success of epiglottopexy with or without aryepiglottic fold division for treatment of patients with obstructive sleep apnea (OSA) with epiglottic obstruction. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary care academic hospital. METHODS: Children with sleep study proven OSA who underwent epiglottopexy with or without aryepiglottic fold division from January 2013 to June 2017 were included. The epiglottis contributed to airway obstruction in all patients. Pre- and post-operative apnea-hypopnea index (AHI) were compared. Age, sex, body mass index (BMI) z-score and post-operative complications were also evaluated. Success was defined by post-operative AHI < 5.0 with resolution of OSA symptoms or AHI ≤ 1.0 events per hour. RESULTS: Twenty-eight children (age 2-17 years) underwent either epiglottopexy with division of aryepiglottic folds (N = 18) or epiglottopexy alone (N = 10). There was no difference in preoperative age, AHI, or BMI between the groups. Post-operative AHI was lower in the group undergoing epiglottopexy alone (AHI 1.50) versus with aryepiglottic fold division (AHI 3.17) (P < 0.05). No difference was found in mean AHI improvement between the two groups. For the entire cohort, success criteria were met by 53.6% of patients for AHI < 5.0 without symptoms and 25.0% of patients for AHI ≤ 1.0, with no difference in surgical success between procedures (P > 0.05). CONCLUSIONS: Children undergoing epiglottopexy with division of aryepiglottic folds for laryngeal collapse were as likely to have improved OSA symptoms as children undergoing epiglottopexy alone.
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Epiglote/cirurgia , Cartilagens Laríngeas/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Apneia Obstrutiva do Sono/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Polissonografia/métodos , Estudos Retrospectivos , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/fisiopatologia , Resultado do TratamentoRESUMO
BACKGROUND: Chronic rhinosinusitis (CRS) is a multifaceted disease with a significant genetic component. The importance of taste receptor signaling has recently been highlighted in CRS; single nucleotide polymorphisms (SNPs) of bitter tastant-responsive G-protein-coupled receptors have been linked with CRS and with altered innate immune responses to multiple bacterially derived signals. OBJECTIVE: To determine in CRS the frequency of six SNPs in genes with known bitter tastant signaling function. METHODS: Genomic DNA was isolated from 74 CRS volunteers in West Virginia, and allele frequency was determined and compared with demographically matched data from the 1,000 Genomes database. RESULTS: For two SNPs in a gene recently associated with bitterant signaling regulation, RGS21, there were no associations with CRS (although the frequency of the minor allele of RGS21, rs7528947, was seen to increase with increasing Lund-Mackay CT staging score). Two TAS2R bitter taste receptor gene variants (TAS2R19 rs10772420 and TAS2R38 rs713598), identified in prior CRS genetics studies, were found to have similar associations in this study. CONCLUSION: Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction.
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Proteínas Heterotriméricas de Ligação ao GTP/genética , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Rinite/diagnóstico , Rinite/genética , Sinusite/diagnóstico , Sinusite/genética , Adulto , Idoso , Alelos , Doença Crônica , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Rinite/imunologia , Fatores de Risco , Sinusite/imunologiaRESUMO
Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next-generation sequencing (NGS) workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3 . This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. Molecular approaches that would allow to detect systematically truncating variants in FLNC and BAG3 into genetic testing should significantly increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Cardiomiopatia Dilatada/diagnóstico , Conectina/genética , Filaminas/genética , Mutação , Miopatias Congênitas Estruturais/diagnóstico , Adulto , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/mortalidade , Cardiomiopatia Dilatada/fisiopatologia , Estudos de Coortes , Feminino , França , Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Miopatias Congênitas Estruturais/genética , Miopatias Congênitas Estruturais/mortalidade , Miopatias Congênitas Estruturais/fisiopatologia , Linhagem , Análise de SobrevidaRESUMO
Antiphospholipid antibodies (aPL) may occur alone or associated with other diseases. To evaluate aPL, tested as anticardiolipin antibodies (IgG aCL) in infective endocarditis (IE) diagnosis, we investigated their prevalence in a cohort of 651 patients with IE suspicion. aPL was significantly associated with definite IE versus IE-rejected patients. Their mean levels were significantly higher in patients with definite IE versus possible IE. When applied as Duke minor criterion, they were significantly more often positive, and at higher levels, in patients with definite IE than in patients with possible or rejected IE. aPL could be helpful in difficult cases of IE diagnosis.
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Anticorpos Antifosfolipídeos/sangue , Biomarcadores/sangue , Endocardite/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
PURPOSE: Length of stay is a marker of quality and efficiency of health care delivery. The objective of this study was to identify preoperative, intraoperative, and postoperative variables that impact length of stay after lateral skull base surgery. Methods/Procedures: The American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) databases from 2009-2012 were analyzed, and patients undergoing elective lateral skull base surgery for benign lesions of cranial nerves were identified. The primary outcome measure of interest was length of hospital stay. Protracted length of stay was defined as ≥75th percentile of length of stay for all patients. The impact of demographic factors, intraoperative variables, and postoperative complications on length of stay was assessed. RESULTS: In total, 252 patients were included. Almost half of the patients (41.2%) were classified as obese (body mass index ≥30). Patients who were obese had significantly longer lengths of stay (5.6 ± 3.9 days) when compared to patients who were not obese (4.6 ± 3.4 days, p = 0.006). Multivariate regression analysis demonstrated that operative time, reoperation within 30 days of initial surgery, and obesity were independent predictors for protracted length of stay. CONCLUSION: National multi-institutional data from the ACS-NSQIP suggest that operative time, reoperation, and obesity are predictors of longer hospital stays after lateral skull base approaches for benign cranial nerve neoplasms.
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Procedimentos Cirúrgicos Eletivos/efeitos adversos , Tempo de Internação/tendências , Procedimentos Neurocirúrgicos/efeitos adversos , Obesidade/complicações , Complicações Pós-Operatórias/epidemiologia , Melhoria de Qualidade , Base do Crânio/cirurgia , Feminino , Humanos , Incidência , Masculino , Obesidade/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Resultado do Tratamento , Estados Unidos/epidemiologiaRESUMO
Background: Chronic respiratory diseases (CRDs) require holistic management which considers patients' preferences, appropriate pharmacotherapy, pulmonary rehabilitation, and integrated care. We aimed to understand the perceptions of people with CRDs about their condition and pulmonary rehabilitation in Bangladesh. Methods: We conducted semi-structured interviews with a maximum variation sample of people with CRDs who had participated in a feasibility study of pulmonary rehabilitation in 2021/2022. A multidisciplinary team transcribed the interviews verbatim and analysed them in Bengali using a grounded theory approach. Results: We interviewed 15 participants with chronic obstructive pulmonary disease, asthma, or post-tuberculosis. The analysis revealed three themes. The first encompassed understanding CRDs: Patients characterised their condition by the symptoms (e.g. 'Hapani' meaning 'breathlessness') rather than describing a disease entity. Some believed occupation, previous infection, or family history to be a cause. The second theme included perceptions of pulmonary rehabilitation: Exercise was counterintuitive, as it exacerbated the breathlessness symptom that defined their disease. Views varied, though many acknowledged the benefits after a few sessions. Even with home-based programmes, participants described practical barriers to finding time for the sessions and adopted strategies to overcome the challenges. The third theme focused on implementation: Participants highlighted the need for raising awareness of CRDs and the potential of pulmonary rehabilitation in the community, adapting to the local context, and establishing an accessible resourced service. Conclusions: Understanding how patients and their communities perceive their condition and the barriers (both conceptual and logistical) to acceptance is the first step to embedding this highly effective intervention into routine health care services in Bangladesh with potential benefits for the increasing number of people living with CRDs in low- and middle-income countries.
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Doença Pulmonar Obstrutiva Crônica , Humanos , Bangladesh , Dispneia , Exercício FísicoRESUMO
OBJECTIVE: To use objective quantification of polysomnographic (PSG) parameters in premature infants to define the severity and nature of obstructions (partial hypopnea vs. total obstruction), along with the impact on sleep fragmentation and oxygenation patterns. METHODS: Retrospective comparison of PSG features in 207 infants (<12 months) referred for sleep disordered breathing. Our study groups included term (> = 37 weeks GA, n = 162) and premature (<37 weeks GA, n = 45) infants. Groups were compared for OSA sleep-stage-specific apnea hypopnea (AHI) indexes (REM and NREM), hypopnea indexes (HI), obstructive apnea indexes (OI) and arousal indexes. Oxygenation was assessed as % of time with SpO2 < 90%, nadir with apneic events and frequency of SpO2 desaturations (>3%) calculated as stage-specific O2 desaturation indexes. RESULTS: Overall, premature infants had greater apnea severity (AHI premature 13.9/h vs. Term 7.9/h, p = 0.018). Additional analyses showed that the primary difference between premature and term infants is seen in the group with partial obstructions (HI index) and severe OSA (OAHI> = 10/h). Premature infants also had greater arousal indexes (premature 13.8/h vs. term 10.5/h, p = 0.003). Although the percentage of time <90% at night and the median SpO2 nadir during apneic events was similar in premature vs. term, O2 desaturation indexes were greater in premature infants (10.3/h in term vs. 18.3/h in prematurity, p = 0.03). CONCLUSIONS: Children born premature have an OSA phenotype in infancy characterized by greater severity mostly due to frequent partial obstructions (hypopneas) rather than full obstructions (obstructive apnea). Prematurity is also associated with more intermittent hypoxemia and sleep fragmentation. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:1933-1938, 2024.