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Loss-of-function variants in AP3D1 have been linked to Hermansky-Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnormalities, fatal in early childhood. Here, we report a consanguineous family who presented with presumably isolated autosomal recessive (AR) HL. Whole-exome sequencing was performed on all core family members, and selected patients were screened using array-based copy-number analysis and karyotyping. Candidate variants were validated by Sanger sequencing and assessed in silico. A homozygous, likely pathogenic p.V711I missense variant in AP3D1 segregated with the HL. The family was characterized by thorough medical and laboratory examination. The HL was consistent across patients and accompanied by neurological manifestations in two brothers. The sole female patient was diagnosed with premature ovarian failure. Further findings, including mild neutropenia and reduced NK-cell cytotoxicity in some as well as brain alterations in all homozygous patients, were reminiscent of HPS10, though milder and lacking the characteristic albinism. Previously unrecognized, milder, isolated HL was identified in all heterozygous carriers. A protein model indicates that the variant interferes with protein-protein interactions. These results suggest that a missense variant alters inner-ear-specific functions leading to HL with mild HPS10-like symptoms of variable penetrance. Milder HL in heterozygous carriers may point towards semi-dominant inheritance of this trait. Since all previously reported HPS10 cases were pediatric, it is unknown whether the observed primary ovarian insufficiency recapitulates the subfertility in Ap3d1-deficient mice.
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Surdez , Perda Auditiva Neurossensorial , Síndrome de Hermanski-Pudlak , Masculino , Humanos , Pré-Escolar , Feminino , Animais , Camundongos , Síndrome de Hermanski-Pudlak/diagnóstico , Síndrome de Hermanski-Pudlak/patologia , Mutação de Sentido Incorreto , Perda Auditiva Neurossensorial/genética , Proteínas de Transporte , Homozigoto , Complexo 3 de Proteínas Adaptadoras , Subunidades delta do Complexo de Proteínas Adaptadoras , Subunidades beta do Complexo de Proteínas AdaptadorasRESUMO
PURPOSE: First-line immune checkpoint blockade has improved the prognosis of recurrent and/or metastatic head and neck squamous cell carcinoma (R/M HNSCC), but response rates remain low. In this study, we aimed to investigate the prognostic value of CRP and its early kinetics to predict response and survival in R/M HNSCC. METHODS: A total of 87 patients who received first-line pembrolizumab for R/M HNSCC were analyzed. Three-fold cross-validation was used to estimate cut-off points of CRP at baseline and on-treatment (day 40 ± 10). Treatment response and survival were analyzed according to early CRP kinetics. The neutrophil-to-lymphocyte ratio (NLR) was used as a benchmark for the prognostic performance of CRP. RESULTS: On-treatment CRP below 2 mg/dl, 4x the upper limit of normal (ULN), was associated with increased overall survival (OS), while on-treatment CRP below 3 mg/dl (6x ULN) was correlated with a higher disease control rate (DCR) and increased progression-free survival (PFS). CRP flare-responders and CRP responders showed a higher DCR and longer PFS than CRP non-responders. An NLR above 6 was a negative prognosticator for progression. In multivariable analysis, on-treatment CRP prevailed as the only significant prognosticator for OS (HR: 4.97, CI95%: 2.18-11.32, p < 0.001) and PFS (HR: 2.07, CI95%: 1.07-3.99, p = 0.030). CONCLUSION: On-treatment CRP was identified as a prognostic biomarker for objective response and survival in R/M HNSCC patients receiving first-line pembrolizumab and could be easily incorporated into clinical practice as a widely available and cost-effective biomarker.
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PURPOSE: Extreme weather events are rising due to the accelerating pace of climate change. These events impact human health and increase emergency room visits (EV) for many morbidities. Tinnitus is a common cause of EVs within otolaryngology in Germany and Austria. The effect of extreme weather conditions on tinnitus-related EVs is unknown. METHODS: A total of 526 tinnitus-related EVs at a tertiary care hospital in Vienna were identified. A distributed lag non-linear model with a maximum lag period of 14 days was fitted to investigate the immediate and delayed effect of single-day and prolonged (three-day) extreme atmospheric pressure, relative humidity, mean temperature, precipitation and mean wind speed on EV rates. Extreme conditions were defined as the 1st, 5th, 95th, and 99th percentile of the meteorological variables. Relative risk (RR) is defined as risk for tinnitus-related EVs at an extreme condition compared to the risk at the median weather condition. Cumulative RR (cRR) is the total cumulated EV risk for a given time period. RESULTS: High relative humidity increased same-day RR for tinnitus-related EVs to 1.75. Both low and high atmospheric pressure raised cRR as early as three days after an event to a maximum of 3.24. Low temperatures mitigated cRR within 4 days, while high temperatures tended to increase risk. Prolonged precipitation reduced cRR within one day. CONCLUSION: Extreme meteorological conditions are associated with tinnitus-related EV rates. Further investigation into potential causative links and underlying pathophysiological mechanisms is warranted.
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Zumbido , Humanos , Zumbido/epidemiologia , Tempo (Meteorologia) , Temperatura Baixa , Temperatura , Serviço Hospitalar de EmergênciaRESUMO
PURPOSE: The aim of this study was to assess whether hematological indices of the peripheral blood are associated with revision surgery in patients with chronic rhinosinusitis (CRS) undergoing endoscopic sinus surgery (ESS). METHODS: This retrospective, cross-sectional, single-center study included 541 CRS patients that underwent ESS. Demographics and laboratory parameters were retrieved, and group comparisons were performed. We computed binary logistic regression models to associate clinical characteristics (i.e., aeroallergen allergies, asthma, presence of nasal polyps), absolute blood counts of different leukocyte types (i.e., lymphocytes, neutrophils, basophils, and eosinophils), and hematological indices of the peripheral blood [i.e., neutrophil-to-lymphocyte ratio (NLR), basophil-to-lymphocyte ratio (BLR), eosinophil-to-lymphocyte ratio (ELR), and eosinophil-to-neutrophil ratio (ENR)] with revision surgery as outcome. RESULTS: The study population included 435 primary surgeries and 106 revision cases. Patients undergoing revision ESS showed significantly higher absolute preoperative eosinophil counts (381.6 ± 265.6 per µl), ELR (0.205 ± 0.195), and ENR (0.105 ± 0.074) compared to primary cases (all p < 0.001). Binary logistic regression analysis revealed higher odds for revision surgery in patients higher in age (ß = 1.026, p < 0.001), with presence of aeroallergen allergies (ß = 1.865, p = 0.011), presence of asthma (ß = 3.731, p = 0.001), higher preoperative eosinophil counts (ß = 1.002, p < 0.001), and higher ELR (ß = 155.663, p = 0.015). CONCLUSIONS: We found that higher peripheral eosinophil count and higher ELR were associated with revision ESS in CRS patients. Preoperative assessment of hematological indices of the peripheral blood might be a valuable indicator of disease severity, thus facilitating better treatment selection.
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Asma , Eosinofilia , Hipersensibilidade , Pólipos Nasais , Rinite , Sinusite , Humanos , Eosinófilos , Estudos Retrospectivos , Reoperação , Estudos Transversais , Contagem de Leucócitos , Linfócitos , Sinusite/cirurgia , Sinusite/complicações , Hipersensibilidade/complicações , Asma/complicações , Doença Crônica , Pólipos Nasais/cirurgia , Rinite/cirurgia , Rinite/complicaçõesRESUMO
PURPOSE: The objective of the study was to evaluate the proposed cochlear duct length estimation based on the cochlear 'A value'. Furthermore, we assessed the interobserver variability between radiology and otolaryngology attending physicians and otolaryngology trainees. METHODS: Thirteen pediatric cochlear implant candidates were retrospectively analyzed by three otolaryngology physicians (attending physician, second year, and fourth year trainees) and a radiology attending. The cochlear duct length was calculated based on the formula of Grover et al. The differences in acquired measurements between observers were compared using the Wilcoxon matched signed-rank test. RESULTS: The differences in measurements between the attending otolaryngologist and radiologist were not statistically different, while several significant differences were observed with regard to measurements of attending doctors compared to both residents. In particular, a significant difference between the second year otolaryngology resident and otolaryngology and radiology attending was observed for one side (right ear p = 0.034 and p = 0.012, respectively). Moreover, the fourth year resident calculated significantly different cochlear duct measurements when compared to the attending otolaryngologist (left ear p = 0.014) and radiologist (right ear p = 0.047). Interestingly, differently experienced otolaryngology residents provided significantly different measurements for both ears. CONCLUSIONS: Based on these results, cochlear duct length measurement according to the proposed method may be a reliable and cost-effective method. Indeed, otolaryngology training may be sufficient to provide measurements comparable to radiologists. On the other hand, additional efforts should be invested during otolaryngology training in terms of the evaluation of radiological imaging which may increase the capabilities of otolaryngology residents in this regard.
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Implante Coclear , Implantes Cocleares , Humanos , Criança , Variações Dependentes do Observador , Estudos Retrospectivos , Implante Coclear/métodos , Ducto CoclearRESUMO
OBJECTIVES: Olfactory dysfunction (OD) is a common symptom of Coronavirus Disease 2019 (COVID-19). Although many patients have been reported to regain olfactory function within the first month, long-term observation reports vary. Therefore, we aimed to assess the course of chemosensory function in patients diagnosed with COVID-19 within 3-15 months after the infection. METHODS: One hundred and two patients (71 females and 31 males; mean age 38.8 years) diagnosed with laboratory-confirmed COVID-19 and subjective OD participated in this single-center study 111-457 days after onset of OD. Patients first performed chemosensory tests at home, followed by psychophysical testing (Sniffin' Sticks (TDI), 27-item Candy Smell Test (CST), Taste Strips Test (TST)) in the clinic. Questionnaires regarding importance of olfaction (IOQ) and olfactory-specific quality of life (QOD) were applied at both timepoints. RESULTS: After a mean 216 days (SD 73; range 111-457) between OD onset and follow-up testing, the mean Sniffin' Sticks (TDI) score was 27.1 points (SD 5.8; range 4.25-38.5): 4.0% were anosmic, 72.5% hyposmic, and 23.5% normosmic. At follow-up testing, 73.5% of patients reported improvement, 5.9% deterioration, and 20.6% no change in OD. Moreover, full recovery of self-perceived smell, flavor, and taste was not observed. According to questionnaires, the individual importance of smell did not change, but participants showed improvement in OD-related quality of life (p < 0.001) and had increased parosmia scores (p = 0.014) at follow-up. CONCLUSION: Our results show that long-lasting OD after SARS-CoV-2 infection is a common symptom. The majority of patients had OD in the range of hyposmia, which was confirmed by comprehensive smell tests.
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COVID-19 , Transtornos do Olfato , Adulto , COVID-19/complicações , Feminino , Humanos , Masculino , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/etiologia , Qualidade de Vida , SARS-CoV-2 , OlfatoRESUMO
PURPOSE: Temporal trends of disease-specific internet searches may provide novel insights into seasonal dynamics of disease burden and, by extension, disease pathophysiology. The aim of this study was to define the temporal trends in rhinosinusitis-specific internet searches. METHODS: This was a cross sectional analysis of search volume for predefined search terms. Google trends was used to explore the volume of searches for five specific search terms related to rhinosinusitis: nose, mucus, sinus, sinusitis, chronic sinusitis, which were entered into Google web search between 2004 and 2019. Results were analyzed within search "context" which included temporally associated related searches. Relative search volume (RSV) was analyzed for English and non-English speaking countries from the Northern and Southern hemispheres. Analysis of seasonality was performed using the cosinor model. RESULTS: The five specific search terms were most related to rhinosinusitis-related search contexts, indicating that they were appropriately reflective of internet queries by patients for rhinosinusitis. The RSV for rhinosinusitis-related terms and more general search terms increased with each passing year indicating constant interest in rhinosinusitis. Cosinor time series analysis revealed inquiry peaks in winter months for all five specific rhinosinusitis-related search terms independent from the hemisphere. CONCLUSION: Over a 15-year period, Google searches with rhinosinusitis-specific search terms consistently peaked during the winter around the world. These findings indirectly support the model of viral infection or exposure as the predominant cause of acute rhinosinusitis and acute exacerbations of chronic rhinosinusitis.
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Ferramenta de Busca , Sinusite , Estudos Transversais , Humanos , Internet , Estações do Ano , Sinusite/epidemiologia , Sinusite/etiologiaRESUMO
BACKGROUND: The data retrieved with the online search engine, Google Trends, can summarize internet inquiries into specified search terms. This engine may be used for analyzing inquiry peaks for different medical conditions and symptoms. OBJECTIVE: The aim of this study was to analyze World Wide Web interest peaks for "ear pain," "ear infection," and "ear drops." METHODS: We used Google Trends to assess the public online interest for search terms "ear pain," "ear infection," and "ear drops" in 5 English and non-English-speaking countries from both hemispheres based on time series data. We performed our analysis for the time frame between January 1, 2004, and December 31, 2019. First, we assessed whether our search terms were most relevant to the topics of ear pain, ear infection, and ear drops. We then tested the reliability of Google Trends time series data using the intraclass correlation coefficient. In a second step, we computed univariate time series plots to depict peaks in web-based interest. In the last step, we used the cosinor analysis to test the statistical significance of seasonal interest peaks. RESULTS: In the first part of the study, it was revealed that "ear infection," "ear pain," and "ear drops" were the most relevant search terms in the noted time frame. Next, the intraclass correlation analysis showed a moderate to excellent reliability for all 5 countries' 3 primary search terms. The subsequent analysis revealed winter interest peaks for "ear infection" and "ear pain". On the other hand, the World Wide Web search for "ear drops" peaked annually during the summer months. All peaks were statistically significant as revealed by the cosinor model (all P values <.001). CONCLUSIONS: It can be concluded that individuals affected by otitis media or externa, possibly the majority, look for medical information online. Therefore, there is a need for accurate and easily accessible information on these conditions in the World Wide Web, particularly on differentiating signs and therapy options. Meeting this need may facilitate timely diagnosis, proper therapy, and eventual circumvention of potentially life-threatening complications.
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Dor , Ferramenta de Busca , Humanos , Internet , Reprodutibilidade dos Testes , Estações do AnoRESUMO
PURPOSE: Testing olfaction should be an integral part of a clinical work-up in rhinosurgical procedures. Importantly, intact olfactory experience also includes retronasally perceived odors (retronasal olfaction). This study aimed at comprehensively assessing olfaction in patients undergoing rhinosurgical procedures in a comparative manner and evaluating relations to patient-reported outcome measurements (PROMs). METHODS: Each nostril odor threshold and discrimination, and birhinal identification were tested using Sniffin' Sticks in 14 subjects assigned for septoplasty (SP), 21 for septorhinoplasty (SRP), and 30 for endoscopic sinus surgery (ESS). The 27-Candy-Smell-Test was used to quantify retronasal abilities. Tests were repeated 3 months after surgery. RESULTS: Olfactory dysfunction was preoperatively present in 21% of SP, in 47.6% of SRP, and in 80% of ESS patients. Odor threshold side differences were most frequently found in SRP. Frequently, SRP and ESS patients showed severely impaired retronasal olfaction. Half of included subjects re-visited after 3 months, but olfactory function did not improve overall and rarely on an individual basis to a meaningful extent. Subjective ratings on nasal patency and PROMs were not associated with olfaction nor with changes in olfactory scores. CONCLUSION: Olfactory function can decisively be impaired a priori not only in patients awaiting sinus surgery, but also in those assigned for functional septorhinoplasty. This impairment may not improve in the short term, which has to be taken into account in patient counseling. This study adds to the current literature on olfaction in rhinosurgery with the extension of retronasal testing.
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Transtornos do Olfato , Olfato , Endoscopia , Humanos , Nariz , Odorantes , Transtornos do Olfato/etiologiaRESUMO
OBJECTIVE: To assess whether web-based public inquiries into pharyngitis-related search terms follow annual incidence peaks of acute pharyngitis in various countries from both hemispheres. METHODS: Google Trends (GT) was utilized for systematic acquisition of pharyngitis-related search terms (sore throat, cough, fever, cold). Six countries from both hemispheres including four English (United Kingdom, United States, Canada, and Australia) and two non-English speaking countries (Austria and Germany) were selected for further analysis. Time series data on relative search interest for pharyngitis-related search terms, covering a timeframe between 2004 and 2019 were extracted. Following reliability analysis using the intra-class correlation coefficient, the cosinor time series analysis was utilized to determine annual peaks in public-inquiries. RESULTS: The extracted datasets of GT proved to be highly reliable with correlation coefficients ranging from 0.83 to 1.0. Graphical visualization showed annual seasonal peaks for pharyngitis-related search terms in all included countries. The cosinor time series analysis revealed these peaks to be statistically significant during winter months (all p < 0.001). CONCLUSION: Our study revealed seasonal variations for pharyngitis-related terms which corresponded to winter incidence peaks of acute pharyngitis. These results highlight the need for easily accessible information on diagnosis, therapy, and red-flag symptoms for this common disease. Accurately informed patients might contribute to a reduction of unnecessary clinic visits and potentially cutback the futile antibiotic overuse.
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Faringite , Antibacterianos/uso terapêutico , Austrália/epidemiologia , Áustria , Canadá/epidemiologia , Alemanha , Humanos , Incidência , Faringite/tratamento farmacológico , Faringite/epidemiologia , Reprodutibilidade dos Testes , Reino Unido , Estados Unidos/epidemiologiaRESUMO
PURPOSE: While the overall impact of chronic rhinosinusitis (CRS) on patients' health is diverse, many affected individuals have a substantially impaired quality of life (QoL). The aim of this study was to evaluate the impact of sex-associated differences specifically in the subgroups of CRS with nasal polyps (CRSwNP) and aspirin-exacerbated respiratory disease (AERD) by assessing QoL parameters in women and men separately. METHODS: In a retrospective single-center study, 59 patients with CRSwNP (39 males and 20 females) and 46 patients with AERD (18 males and 28 females) were included. Patient-reported outcome measures (PROM) evaluating QoL via the Sino-Nasal Outcome Test-20 German Adapted Version (SNOT-20 GAV) as well as the total polyp score (TPS) were analysed. RESULTS: There was no significant difference in TPS (p = 0.5550) and total SNOT-20 GAV scores (p = 0.0726) between male or female patients with CRSwNP or AERD. Furthermore, no significant sex differences were found within disease groups regarding the subcategories of the SNOT-20 GAV items. CONCLUSION: Thus, quality of life is severely impaired in patients suffering from various forms of CRS regardless of their sex.
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Asma Induzida por Aspirina , Pólipos Nasais , Rinite , Sinusite , Doença Crônica , Feminino , Humanos , Masculino , Pólipos Nasais/complicações , Pólipos Nasais/epidemiologia , Qualidade de Vida , Estudos Retrospectivos , Rinite/complicações , Rinite/epidemiologia , Sinusite/complicações , Sinusite/epidemiologiaRESUMO
PURPOSE: Olfactory training is recommended in olfactory dysfunction (OD) showing promising results. OD patients frequently ask for training modifications in the hope of a better outcome. Also, a lack of knowledge of the flavor system is evident. This investigation sought to implement flavor education (FE) and encourage patients to experience flavors in terms of a flavor training (FT). METHODS: In included patients (n = 30), OD was either of postinfectious (86.7%) or posttraumatic (13.3%) cause. Chemosensory abilities were tested orthonasally (using Sniffin Sticks = TDI) and retronasally (using the Candy Smell Test = CST). Key points of flavor perception were demonstrated in an educative session. Subjects were instructed to consciously experience flavors out of a list of 50. Effects of FT were explored in two groups (group A and B), with group B starting FT 17 weeks later. RESULTS: FE was appreciated and drop-out rate stayed very low (one participant). Compliance was high and 30.4 ± 12.9 flavors were tried. Overall TDI scores improved in 10 patients (6 group A, 4 group B) in a clinically significant way (> 5.5). For group A (starting FT earlier) rm-ANOVA showed a significant effect of session (timepoint) on CST (p < 0.01). CONCLUSION: Flavor education is demonstrated as feasible and appreciated in a clinical setting. FT seems to be a welcomed second-line therapy in patients with olfactory dysfunction. This study shows beneficial trends of FT; however, further studies with larger sample sizes and standardized training protocols are needed.
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Transtornos do Olfato , Olfato , Humanos , Transtornos do Olfato/etiologia , Transtornos do Olfato/terapia , Projetos Piloto , PaladarRESUMO
PURPOSE: To review the pathophysiology, diagnosis, and updated treatments of retinal vein occlusions (RVOs). METHODS: A review of the literature was performed, focusing on the epidemiology, pathophysiology, diagnosis, and treatments (including both medical and surgical treatments) of RVO. Based on this review, a comprehensive overview was provided regarding the topic of RVO and focused on recent treatment updates. RESULTS: Retinal vein occlusions have an age- and sex-standardized prevalence of 5.20 per 1,000 for any RVO, 4.42 per 1,000 for branch RVO, 0.80 per 1,000 for central RVO. Worldwide, an estimated 16.4 million adults are affected by RVOs, with 2.5 million affected by central RVO and 13.9 million affected by branch RVO. Retinal vein occlusion is recognized as an important cause of blindness and the diagnostic approaches and treatment options for RVO are reviewed and reported. The current treatment options including medical treatments (bevacizumab, ranibizumab, aflibercept, triamcinolone, and dexamethasone implants) and surgical alternatives were reviewed and reported with summaries on the corresponding strength of evidence. CONCLUSION: Despite the understanding of this disease entity, challenges persist in the long-term treatment of RVO-related complications and visual loss. This review provided a detailed summary on the rationality and efficacy of recently developed treatment regimes and evaluated the potential benefit of combination therapy.
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Inibidores da Angiogênese/uso terapêutico , Glucocorticoides/uso terapêutico , Edema Macular/tratamento farmacológico , Oclusão da Veia Retiniana/tratamento farmacológico , Bevacizumab/uso terapêutico , Humanos , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/epidemiologia , Edema Macular/fisiopatologia , Ranibizumab/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/epidemiologia , Oclusão da Veia Retiniana/fisiopatologia , Triancinolona Acetonida/uso terapêutico , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
PURPOSE: To investigate the associations of genetic variants in the high-density lipoprotein (HDL) metabolism pathway with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). DESIGN: Cross-sectional, case-control association study. PARTICIPANTS: A Chinese case-control group of 200 neovascular AMD patients, 233 PCV patients, and 275 control subjects. METHODS: Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA). MAIN OUTCOME MEASURES: Allele and genotypic frequencies of selected SNPs. RESULTS: The SNP rs3764261 in the cholesteryl ester transfer protein (CETP) gene was associated significantly with neovascular AMD (P = 1.82×10(-4); odds ratio [OR], 1.89) and PCV (P = 4.04×10(-4); OR, 1.80). The associations remained significant after adjusting for the CFH SNP rs800292 and the HTRA1 SNP rs11200638. A significant interaction between the CETP SNP rs3764261 and the CFH SNP rs800292 existed in both neovascular AMD and PCV, the rs800292 G allele conferring a significantly increased risk of the diseases only in individuals carrying the risk allele T of rs3764261. A borderline association was detected between the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene SNP rs57137919 and PCV (P = 0.03). CONCLUSIONS: Our results showed that CETP is a susceptibility gene for neovascular AMD and PCV and that ABCG1 a putative gene for PCV. CETP exerts a modifying effect on CFH in the genetic risk. Our data suggest a link of the HDL metabolism pathway with neovascular AMD and PCV.
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Transportadores de Cassetes de Ligação de ATP/genética , Proteínas de Transferência de Ésteres de Colesterol/genética , HDL-Colesterol/metabolismo , Doenças da Coroide/genética , Pólipos/genética , Degeneração Macular Exsudativa/genética , Membro 1 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Doenças da Coroide/metabolismo , Doenças da Coroide/patologia , Fator H do Complemento/genética , Estudos Transversais , Feminino , Predisposição Genética para Doença , Genótipo , Técnicas de Genotipagem , Serina Peptidase 1 de Requerimento de Alta Temperatura A , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Pólipos/metabolismo , Pólipos/patologia , Reação em Cadeia da Polimerase em Tempo Real , Serina Endopeptidases/genética , Degeneração Macular Exsudativa/metabolismo , Degeneração Macular Exsudativa/patologiaRESUMO
Objective: Item response theory (IRT) is a methodological approach to studying the psychometric performance of outcome measures. This study aims to determine and summarize the use of IRT in otolaryngological scientific literature. Methods: A systematic search of the Medline, Embase, and the Cochrane Library databases was performed for original English-language published studies indexed up to January 28, 2023, per the following search strategy: ("item response theory" OR "irt" OR "rasch" OR "latent trait theory" OR "modern mental test theory") AND ("ent" OR "otorhinolaryngology" OR "ear" OR "nose" OR "throat" OR "otology" OR "audiology" OR "rhinology" OR "laryngology" OR "neurotology" OR "facial plastic surgery"). Results: Fifty-five studies were included in this review. IRT was used across all subspecialties in otolaryngology, and most studies utilizing IRT methodology were published within the last decade. Most studies analyzed polytomous response data, and the most commonly used IRT models were the partial credit and the rating scale model. There was considerable heterogeneity in reporting the main assumptions and results of IRT. Conclusion: IRT is increasingly being used in the otolaryngological scientific literature. In the otolaryngology literature, IRT is most frequently used in the study of patient-reported outcome measures and many different IRT-based methods have been used. Future IRT-based outcome studies, using standardized reporting guidelines, might improve otolaryngology-outcome research sustainably by improving response rates and reducing patient response burden. Level of evidence: 2.
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OBJECTIVE: Extreme weather events are becoming more prevalent with the increasing pace of climate change. These events negatively impact human health and put considerable strain on health care resources, including emergency departments. Within otolaryngology, acute pharyngitis is a common reason for emergency room visits (ERV). Therefore, we aimed to investigate the impact of extreme meteorological conditions on ERV rates related to acute pharyngitis. STUDY DESIGN: Retrospective time-series study. SETTING: ERVs related to acute pharyngitis (n = 1511) were identified at a tertiary care hospital in Vienna, Austria, between 2015 and 2018. METHODS: The effects of single-day and prolonged (3-day) extreme weather events on ERVs were analyzed using a distributed lag nonlinear model. Relative risk (RR) and cumulative relative risk (cRR) were calculated over a lag period of 14 days. RR refers to the risk for pharyngitis-related ERV at extreme conditions (1st, 5th, 95th, or 99th percentile) compared to the risk at median conditions. RESULTS: Same-day RR (lag0) was elevated more than 3-fold after prolonged extremely low mean temperatures (P = .028). Furthermore, same-day RR after single-day and prolonged extremely high relative humidity was elevated by 51% (P = .024) and 46% (P = .036), respectively. Significant delayed effects on cRR were observed for extreme mean temperatures, relative humidity, and mean wind speeds within 8 days and for extreme atmospheric pressure within 14 days. CONCLUSION: Extreme weather events impact ERV rates for acute pharyngitis. Extremely low temperatures, high relative humidity, high atmospheric pressure, and low and high wind speeds were risk-promoting factors.
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Clima Extremo , Faringite , Humanos , Estudos Retrospectivos , Serviço Hospitalar de Emergência , Fatores de Risco , Faringite/diagnóstico , Faringite/epidemiologiaRESUMO
The coronavirus disease 2019 (COVID-19) pandemic has significantly impacted the treatment of cancer patients, particularly in terms of treatment choices. This study aimed to assess the effects of the COVID-19 pandemic on the management of surgically treated laryngeal squamous cell carcinoma (LSCC) patients, focusing specifically on changes in treatment modalities. We retrospectively analyzed the data from 102 patients who underwent surgical treatment for LSCC between January 1, 2019, and December 31, 2021, at our tertiary medical center. Patient demographics, histological characteristics, and treatment modalities were extracted from electronic medical records and compared between two time periods: pre-COVID-19 and during COVID-19, marked by the introduction of the hospital entry triage. Of the total patients, 53 (52%) were in the pre-COVID-19 group, and 49 (48%) were in the COVID-19 group. No significant differences in patient characteristics at the initial work-up were observed between the two groups. However, a significant shift in treatment modalities was noted. Fewer patients received postoperative adjuvant therapy in the COVID-19 group (70.5%) compared to the pre-COVID-19 group (95.5%). Importantly, this change did not significantly impact the one-year overall survival (OS) rates. The reduction in the use of postoperative adjuvant therapy during the COVID-19 pandemic may be attributed to efforts to minimize hospital visits due to the risk of COVID-19 infection. Further research is warranted to validate these findings and to investigate the potential effects of such changes in treatment modalities on the long-term survival.
Assuntos
COVID-19 , Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Laríngeas , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia , Pandemias , Carcinoma de Células Escamosas/cirurgia , Neoplasias Laríngeas/cirurgia , Estudos Retrospectivos , COVID-19/epidemiologiaRESUMO
OBJECTIVE: The bone conduction implant (BCI) 602 is a new transcutaneous BCI with smaller dimensions. However, limited patient numbers restrict the statistical power and generalizability of the current studies. The present systematic review and meta-analysis summarize early audiological and medical outcomes of adult and pediatric patients implanted with the BCI 602 due to mixed or conductive hearing loss. DATA SOURCE: Following the Preferred Reporting items for Systematic Reviews and Meta-analyses guidelines, 108 studies were reviewed, and 6 (5.6%) were included in the meta-analysis. REVIEW METHOD: The data on study and patient characteristics, surgical outcomes, and audiological test results were extracted from each article. Meta-analysis employed the fixed-effect and random-effects models to analyze the mean differences (MDs) between pre- and postoperative performances. RESULTS: In total, 116 patients were evaluated, including 64 (55%) adult and 52 (45%) pediatric patients. No intraoperative adverse events were reported, while postoperative complications were reported in 2 (3.1%) adult and 2 (3.8%) pediatric patients. Studies consistently showed significant improvements in audiological outcomes, quality of life, and sound localization in the aided condition. In the meta-analysis, we observed a significant difference in the unaided compared to the aided condition in sound field thresholds (n = 112; MD, -27.05 dB; P < 0.01), signal-to-noise ratio (n = 96; MD, -6.35 dB; P < 0.01), and word recognition scores (n = 96; MD, 68.89%; P < 0.01). CONCLUSION: The implantation of the BCI 602 was associated with minimal surgical complications and excellent audiological outcomes for both the pediatric and the adult cohort. Therefore, our analysis indicates a high level of safety and reliability. Further research should focus on direct comparisons with other BCIs and long-term functional outcomes.