THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress responses. Mutations in genes that are known to regulate tRNA modifications lead to a wide array of phenotypes and diseases including numerous cognitive and neurodevelopmental disorders, highlighting the critical role of tRNA modification in human disease. One such gene, THUMPD1, is involved in regulating tRNA N4-acetylcytidine modification (ac4C), and recently was proposed as a candidate gene for autosomal-recessive intellectual disability. Here, we present 13 individuals from 8 families who harbor rare loss-of-function variants in THUMPD1. Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities. We demonstrate that the bi-allelic variants identified cause loss of function of THUMPD1 and that this defect results in a loss of ac4C modification in small RNAs, and of individually purified tRNA-Ser-CGA. We further corroborate this effect by showing a loss of tRNA acetylation in two CRISPR-Cas9-generated THUMPD1 KO cell lines. In addition, we also show the resultant amino acid substitution that occurs in a missense THUMPD1 allele identified in an individual with compound heterozygous variants results in a marked decrease in THUMPD1 stability and RNA-binding capacity. Taken together, these results suggest that the lack of tRNA acetylation due to THUMPD1 loss of function results in a syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss, and facial dysmorphism.

LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL).

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also considering iron homeostasis genes, ferroptosis and cellular stressors such as iron excess and dysfunctional mitochondrial superoxide dismutase activity. RESULTS: We investigated 206 SSNHL patients and 420 healthy controls for the following genetic variants in the iron pathway: SLC40A1 - 8CG (ferroportin; FPN1), HAMP - 582AG (hepcidin; HEPC), HFE C282Y and H63D (homeostatic iron regulator), TF P570S (transferrin) and SOD2 A16V in the mitochondrial superoxide dismutase-2 gene. Among patients, SLC40A1 - 8GG homozygotes were overrepresented (8.25% vs 2.62%; P = 0.0015) as well SOD2 16VV genotype (32.0% vs 24.3%; P = 0.037) accounting for increased SSNHL risk (OR = 3.34; 1.54-7.29 and OR = 1.47; 1.02-2.12, respectively). Moreover, LINE-1 methylation was inversely related (r2 = 0.042; P = 0.001) with hearing loss score assessed as pure tone average (PTA, dB HL), and the trend was maintained after SLC40A1 - 8CG and HAMP - 582AG genotype stratification (ΔSLC40A1 = + 8.99 dB HL and ΔHAMP = - 6.07 dB HL). In multivariate investigations, principal component analysis (PCA) yielded PC1 (PTA, age, LINE-1, HAMP, SLC40A1) and PC2 (sex, HFEC282Y, SOD2, HAMP) among the five generated PCs, and logistic regression analysis ascribed to PC1 an inverse association with moderate/severe/profound HL (OR = 0.60; 0.42-0.86; P = 0.0006) and with severe/profound HL (OR = 0.52; 0.35-0.76; P = 0.001). CONCLUSION: Recognizing genetic and epigenetic biomarkers and their mutual interactions in SSNHL is of great value and can help pharmacy science to design by pharmacogenomic data classical or advanced molecules, such as epidrugs, to target new pathways for a better prognosis and treatment of SSNHL.

Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.

PURPOSE: To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection. METHODS: PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16 years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL. Electronic searches were performed through Medline, Embase, Cochrane, and Emcare. RESULTS: 37 studies were included. 21 showed an association between late-onset SNHL and congenital cytomegalovirus (cCMV) infection (age at hearing loss diagnosis 0.75 to 204 months, mean 45.6 ± 43.9), while 16 between late-onset SNHL and other congenital or perinatal factors, namely Neonatal Intensive Care Unit (NICU) stay, prematurity, neonatal respiratory failure, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) support, hypocapnia, hypoxia, alkalosis, seizure activity, congenital diaphragmatic hernia (CDH), inner ear malformation, and gene mutations (age at hearing loss diagnosis 2.5 to 156 months, mean 38.7 ± 40.7). CONCLUSIONS: cCMV infection may cause late-onset SNHL, which can be missed on standard NHSP. There is, therefore, evidence to support universal screening programmes to enable detection in even asymptomatic neonates. Ongoing audiological follow-up for all children with cCMV is advisable, to enable timely treatment. In the paediatric population presenting conditions such as NICU stay > 5 days, prematurity ≤ 34 weeks gestation, severe neonatal respiratory failure, mechanical ventilation, ECMO support, and CDH surgery, an audiological follow-up from 3 months of age up to at least 3-4 years of age, and at least annually, should be recommended.

Blood Markers Predicting Clinically Occult Lymph Node Metastasis in Head and Neck Squamous Cell Carcinoma.

INTRODUCTION: The presence of cervical lymph node metastases is an unfavorable prognostic factor in head and neck squamous cell carcinoma (HNSCC) and a potential cause of treatment failure. Occult lymph node metastasis occurs in approximately 15-20% of HNSCC patients with a clinically negative neck (cN0), greatly impacting on their prognosis. The present study aimed to investigate the role of pre-treatment peripheral blood markers in predicting clinically occult cervical lymph node metastasis. METHODS: This multicenter, retrospective study was performed in a cohort of 472 patients diagnosed with cN0 HNSCC who underwent up-front surgery. Baseline neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), systemic inflammatory marker (SIM), and systemic immune-inflammation index (SII) were calculated from available blood parameters. RESULTS: Oro-hypopharyngeal and oral cancers, locally advanced stage, moderately (G2), and poorly (G3) differentiated grade were associated with an increased risk of pathological lymph node involvement. NLR, LMR, PLR, SIM, and SII were significantly associated at multivariable analysis. NLR >2.12 was the most reliable at predicting occult lymph node metastasis (OR = 5.22; 95% CI: 2.14-12.75). We describe a predictive score integrating cancer site, local stage, and NLR which is effective at predicting positive lymph node pathological status. CONCLUSIONS: The present study provides evidence that pre-treatment peripheral blood markers, in particular NLR, represent reliable predictors of clinically occult cervical lymph node metastasis in cN0 HNSCC. Therefore, the present study provides a novel useful predictive score for directing the elective management of the neck in patients with cN0 HNSCC.

Transoral robotic styloidectomy for Eagle syndrome: A systematic review.

OBJECTIVES: The aim of the study is to conduct a systematic review of the existing literature on styloidectomy performed through transoral robotic surgery (TORS) in Eagle syndrome (ES). DESIGN AND SETTING: Two independent reviewers (RC and AC) conducted a systematic review of PubMed and Embase databases, seeking articles on TORS performed for ES treatment. The search was conducted in July 2023. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PARTICIPANTS: The review included a total of 17 adult patients, comprising 12 females and 5 males, with an average age of 52.2 years, all diagnosed with ES. MAIN OUTCOME MEASURES: For each patient, we assessed the overall length of the styloid process, the affected side, total intervention duration, hospitalization duration, pre and postoperative Visual Analogue Scale (VAS) scores, and the presence of minor and major complications. RESULTS: We identified 4 articles describing 17 instances of TORS as a surgical treatment for ES in the literature, totaling 18 styloidectomies. The mean age of the patients was 52.2 years, with 12 females and 5 males. The average operation time, inclusive of the docking phase, was 68.8 minutes. Sixteen patients (94.1% of the total) experienced complete symptom disappearance or near-complete resolution after surgery. One patient (5.9%) showed improvement categorized as 'non-meaningful.' Only one case of minor complication was reported among the 17 procedures (5.9%).

The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.

Background. Defects of mitochondrial DNA (mtDNA) involved in the function of the mitochondrial electron transport chain can result in primary mitochondrial diseases (PMDs). Various features can influence the phenotypes of different PMDs, with relevant consequences on clinical presentation, including the presence of hearing impairment. This paper aims to describe the hearing loss related to different PMDs, and when possible, their phenotype. Methods. A systematic review was performed according to PRISMA guidelines, searching Medline until December 2022. A total of 485 papers were identified, and based on specified criteria, 7 were included in this study. Results. A total of 759 patients affected by PMDs and hearing loss were included. The age of patients ranged from 2 days to 78 years old, and the male-to-female ratio was 1.3:1. The percentage of subjects affected by hearing loss was 40.8%, (310/759), and in most cases, hearing impairment was described as sensorineural, bilateral, symmetrical, and progressive, with different presentations depending on age and syndrome severity. Conclusions. PMDs are challenging conditions with different clinical phenotypes. Hearing loss, especially when bilateral and progressive, may represent a red flag; its association with other systemic disorders (particularly neuromuscular, ocular, and endocrine) should alert clinicians, and confirmation via genetic testing is mandatory nowadays.

Different inflammatory blood markers correlate with specific outcomes in incident HPV-negative head and neck squamous cell carcinoma: a retrospective cohort study.

BACKGROUND: Inflammatory blood markers have been associated with oncological outcomes in several cancers, but evidence for head and neck squamous cell carcinoma (HNSCC) is scanty. Therefore, this study aims at investigating the association between five different inflammatory blood markers and several oncological outcomes. METHODS: This multi-centre retrospective analysis included 925 consecutive patients with primary HPV-negative HNSCC (median age: 68 years) diagnosed between April 2004 and June 2018, whose pre-treatment blood parameters were available. Neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), lymphocyte to monocyte ratio (LMR), systemic inflammatory marker (SIM), and systemic immune-inflammation index (SII) were calculated; their associations with local, regional, and distant failure, disease-free survival (DFS), and overall survival (OS) was calculated. RESULTS: The median follow-up was 53 months. All five indexes were significantly associated with OS; the highest accuracy in predicting patients' survival was found for SIM (10-year OS = 53.2% for SIM < 1.40 and 40.9% for SIM ≥ 2.46; c-index = 0.569) and LMR (10-year OS = 60.4% for LMR ≥ 3.76 and 40.5% for LMR < 2.92; c-index = 0.568). While LMR showed the strongest association with local failure (HR = 2.16; 95% CI:1.22-3.84), PLR showed the strongest association with regional (HR = 1.98; 95% CI:1.24-3.15) and distant failure (HR = 1.67; 95% CI:1.08-2.58). CONCLUSION: Different inflammatory blood markers may be useful to identify patients at risk of local, regional, or distant recurrences who may benefit from treatment intensification or intensive surveillance programs.

Effectiveness of drug-induced sleep endoscopy in improving outcomes of barbed pharyngoplasty for obstructive sleep apnea surgery: a prospective randomized trial.

PURPOSE: To observe the effectiveness of preoperative drug-induced sleep endoscopy in improving surgical results of patients undergoing single-level barbed pharyngoplasty surgery for OSA, using a prospective randomized model. METHODS: A single-center randomized controlled trial with two prospective arms was carried out to compare functional results in patients treated with barbed reposition pharyngoplasty (BRP) surgery without a preoperative drug-induced sleep endoscopy (DISE) evaluation vs patients treated with BRP surgery performed after DISE evaluation of sites/patterns of collapse. RESULTS: We compared 50 patients who underwent BRP without a preoperative DISE evaluation (Group A) and 42 patients (Group B) treated with BRP surgery but preoperatively selected by means of a preoperative DISE. In this second group of patients, after DISE evaluation, 70% of patients were selected for single-level BRP surgery because they showed an isolated velopharyngeal collapse at the DISE evaluation, without obstruction at other upper airway levels evaluated. Both groups of patients showed a statistically significant difference between preoperative and postoperative values of AHI, ODI, and LOS (p<0.05 in all cases). Comparing Group A and Group B patients, the therapeutic success rate was found to be 60% in patients treated without preoperative DISE evaluation and 83% in patients treated with preoperative DISE (p = 0.02). CONCLUSION: DISE appears to improve the surgical results of single-level velopharyngeal surgery due to the possibility of excluding patients with obstruction of the base of the tongue, the hypopharynx, and the epiglottis/larynx.

Barbed reposition pharyngoplasty (BRP) in obstructive sleep apnea treatment: State of the art.

PURPOSE: In this paper, we perform a systematic review that discusses the state of the art and evolution on the barbed reposition pharyngoplasty (BRP) in the velo-pharyngeal surgery. Clinical evidence and published outcomes of this surgical technique are reported and discussed. MATERIALS AND METHODS: We performed a systematic review of the current literature through the analysis of the last 10 years of literature on barbed palate surgery. Study design, number of patients enrolled, inclusion criteria, pre- and posttreatment outcomes (AHI, ODI), surgical success rate, follow-up time and complication has been collected and reported. RESULTS: 15 studies for a total of 1531 patients, out of which 1061 underwent barbed reposition pharyngoplasty. Five trials were uncontrolled prospective studies (215 patients, 14% of total), nine were retrospective studies (1266 patients, 82,6% of total), and one randomized prospective clinical trial (RCT) (50 patients, 3,32% of total). All analyzed studies reported good outcomes after BRP surgery. Average preoperative values of AHI and ODI reduced in all studies considered with a significative statistical difference between preoperative and postoperative values (p < 0.05 in all cases). The postoperative surgical success rate ranged between 65.4 and 93% of cases. There were no significant intra-operative or post-operative complications in all studies considered in this systematic review. CONCLUSIONS: Barbed reposition pharyngoplasty has proven to be an easy to learn, quick, safe and effective new palatopharyngeal procedure, that can be used in a single level surgery or as a part of multilevel procedures.

Impact of COVID-19 pandemic on the incidence of otitis media with effusion in adults and children: a multicenter study.

PURPOSE: To compare and analyze the incidence of otitis media with effusion (OME), before and during the COVID-19-related pandemic period, to evaluate the effects of the social changes (lockdown, continuous use of facial masks, social distancing, reduction of social activities) in the OME incidence in children and adults. METHODS: The number of diagnosed OME in e five referral centers, between 1 March 2018 and 1 March 2021, has been reviewed and collected. To estimate the reduction of OME incidence in children and adults during the COVID-19 pandemic period the OME incidence in three period of time were evaluated and compared: group 1-patients with OME diagnosis achieved between 1/03/2018 and 01/03/2019 (not pandemic period). Group 2-patients with OME diagnosis achieved between 1/03/2019 and 1/03/2020 (not pandemic period). Group 3-patients with OME diagnosis achieved between 1/03/2020 and 1/03/2021 (COVID-19 pandemic period). RESULTS: In the non-pandemic periods (group 1 and 2), the incidence of OME in the five referral centers considered was similar, with 482 and 555 diagnosed cases, respectively. In contrast, the OME incidence in the same centers, during the pandemic period (group 3) was clearly reduced with a lower total number of 177 cases of OME estimated. Percentage variation in OME incidence between the first non-pandemic year considered (group 1) and the pandemic period (group 3) was-63, 3%, with an absolute value decrease value of-305 cases. Similarly, comparing the second non-pandemic year (group 2) and the pandemic year (group 3) the percentage variation of OME incidence was-68, 1% with an absolute value of-305 cases decreased. CONCLUSIONS: Our findings showed a lower incidence of OME during the pandemic period compared with 2 previous non pandemic years. The drastic restrictive anti-contagion measures taken by the Italian government to contain the spread of COVID-19 could have had a positive impact on the lower OME incidence during the last pandemic year.

The risk of recurrence in surgically treated head and neck squamous cell carcinomas: a conditional probability approach.

BACKGROUND: Over 50% of patients with head-and-neck squamous cell carcinoma (HNSCC) experience locoregional recurrence, which is associated with poor outcome. In the course of follow-up for patients surviving primary surgery for HNSCC, one might ask: What is the probability of recurrence in one year considering that the cancer has not yet recurred to date? MATERIALS AND METHODS: To answer this question, 979 patients surgically treated for HNSCC (i.e. cancer of the oral cavity, oropharynx, hypopharynx or larynx) between March 2004 and June 2018 were enrolled in a multicenter retrospective cohort study, followed up for death and recurrence over a 5 year period. The conditional probability of recurrence in 12 months - i.e. the probability of recurrence in the next 12 months given that, to date, the patient has not recurred - was derived from the cumulative incidence function (Aalen-Johansen method). RESULTS: Overall, the probability of recurrence was the highest during the first (17.3%) and the second years (9.6%) after surgery, declining thereafter to less than 5.0% a year thereafter. The probability of recurrence was significantly higher for stage III-IV HNSCCs than for stage I-II HNSCCs in the first year after surgery (20.4% versus 10.0%; p < 0.01), but not thereafter. This difference was most pronounced for oral cavity cancers. No significant differences were observed across different tumor sites. CONCLUSION: This dynamic evaluation of recurrence risk in patients surgically treated for HNSCC provides helpful and clinically meaningful information, which can be useful to patients in planning their future life, and to clinicians in tailoring post-treatment surveillance according to a more personalized risk stratification.

The Influence of Hearing Aids on Balance Control: A Systematic Review.

AIM: To assess the current opinion on the effects of hearing loss treatment by hearing aids (HAs) and the benefits of HA use on imbalance. METHODS: PRISMA-compliant systematic review was done, including observational studies in patients affected by mild to severe sensorineural hearing loss with HAs, investigating the benefits of HAs on balance. Electronic searches were performed through Medline, Cochrane, Embase, Web of Science, and Scopus. RESULTS: A total of 200 patients in 8 studies were included in this systematic review. Four studies were cross-sectional, 3 cross-sectional controlled and 1 prospective nonrandomized study. Static and dynamic balance in the aided condition improved in patients assessed using clinical investigations including Romberg test and Functional Ambulation Performance/mini-BESTest, respectively. Variable outcomes were found measuring static and dynamic balance during the aided condition with objective tests (computerized posturography, Mobility Lab device). Improved quality of life outcomes and self-confidence were noted, while subjective measurements of balance had conflicting results. CONCLUSION: Although an improvement in balance in patients with HAs has been shown in certain conditions, the overall benefit is still unclear and it is only possible to speculate that HAs may also improve static, dynamic, or subjective perception of balance function in adults affected by hearing loss.

Advanced lung cancer inflammation index and its prognostic value in HPV-negative head and neck squamous cell carcinoma: a multicentre study.

PURPOSE: The aim of this study is to evaluate the prognostic value of pre-treatment advanced lung cancer inflammation index (ALI) in patients with HPV-negative HNSCC undergoing up-front surgical treatment. METHODS: The present multi-centre, retrospective study was performed in a consecutive cohort of patients who underwent upfront surgery with or without adjuvant (chemo)-radiotherapy for head and neck squamous cell carcinoma (HNSCC). Patients were stratified by ALI, and survival outcomes were compared between groups. In addition, the prognostic value of ALI was compared with two other indices, the prognostic nutritional index (PNI) and systemic inflammatory index (SIM). RESULTS: Two hundred twenty-three patients met the inclusion criteria (151 male and 72 female). Overall and progression-free survival were significantly predicted by ALI < 20.4 (HR 3.23, CI 1.51-6.90 for PFS and HR 3.41, CI 1.47-7.91 for OS). Similarly, PNI < 40.5 (HR = 2.43, 95% CI: 1.31-4.51 for PFS and HR = 2.40, 95% CI: 1.19-4.82 for OS) and SIM > 2.5 (HR = 2.51, 95% CI: 1.23-5.10 for PFS and HR = 2.60, 95% CI: 1.19-5.67 for OS) were found to be significant predictors. Among the three indices, ALI < 20.4 identified the patients with the worst 5-year outcomes. Moreover, patients with a combination of low PNI and low ALI resulted to be a better predictor of progression (HR = 5.26, 95% CI: 2.01-13.73) and death (HR = 5.68, 95% CI: 1.92-16.79) than low ALI and low PNI considered alone. CONCLUSIONS: Our results support the use of pre-treatment ALI, an easily measurable inflammatory/nutritional index, in daily clinical practice to improve prognostic stratification in surgically treated HPV-negative HNSCC.

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

Non-syndromic hearing loss (NSHL) is characterized by a vast genetic heterogeneity; some syndromic forms as Usher syndrome (USH) have onset as isolated deafness and then evolve later in life. We developed an NGS targeted gene-panel containing 59 genes and a customized bioinformatic pipeline for the analysis of DNA samples from clinically highly selected subjects with sensorineural hearing loss, previously resulted negative for GJB2 mutations/GJB6 deletions. Among the 217 tested subjects, 24 (11.1%) were found to carry mutations in genes involved both in NSHL and USH. For 6 out of 24 patients a diagnosis of USH was performed. Eleven subjects out of 24 had hearing loss without vestibular or ocular dysfunction and, due to their young age, it was not possible to establish whether their phenotype could be NSHL or USH. Seven subjects were diagnosed with NSHL, due to their age and phenotype. A total of 41 likely pathogenic/pathogenic mutations were identified, among which 17 novel ones. We report a high frequency of mutations in genes involved both in NSHL and in USH in a cohort of individuals tested for seemingly isolated deafness. Our data also highlight a wider than expected phenotypic variability in the USH phenotype.

The eagle jugular syndrome.

BACKGROUND: The elongation of the styloid process is historically associated with two variants of the Eagle syndrome. The classic one, mainly characterized by pain and dysphagia, and the carotid variant characterized by pain and sometimes by cerebral ischemia. We observed a further variant characterized by a styloid elongation coursing adjacent to the transverse process of C1, causing significant compression of the internal jugular vein. METHODS: We reviewed all the cases of Eagle syndrome, including the jugular variant, admitted in our Hospital in the last six years. We compared symptomatology, associated comorbidities and imaging. Data were statistically analyzed. RESULTS: Overall 23 patients were admitted to the Hospital for symptomatic elongation of the styloid process, 11 male and 12 females. The jugular variant of the Eagle syndrome is clinically delineated by significant differences, as compared to the classic variant and carotid variants. Headache was the more prominent symptom (p < .009) as well as a documented peri-mesencephalic hemorrhage was the more significant comorbidity (p < .0003). The group classic-carotid variant was characterized by ipsilateral pain respect to the jugular variant (p < .0003). CT angiography with venous phase extended to the neck veins and imaging reconstruction is highly recommended as imaging technique, complemented by color-Doppler ultrasound. CONCLUSIONS: The elongation of the styloid process may have different paths which creates compression on the surrounding anatomical structures. There may be a possible association of jugular impingement by an elongated styloid process with symptoms. TRIAL REGISTRATION: Protocol n°45-2013.

Is Peripheral Oxygen Saturation a Reliable Predictor of Upper Airways Air-Flow Limitation?

BACKGROUND: Dyspnea secondary to acute upper airways airflow limitation (UAAFL) represents a clinical emergency that can be difficult to recognize without a suitable history; even when etiology is known, parameters to assess the severity are unclear and often improperly used. OBJECTIVES: The aim of this study was to assess the role of peripheral oxygen saturation (SpO2) as a predictor of severity of upper airway obstruction. METHODS: The authors propose an experimental model of upper airway obstruction by a progressive increase of UAAFL. Ten healthy volunteers randomly underwent ventilation for 6 min with different degrees of UAAFL. SpO2, heart rate, respiratory rate (RR), tidal volume, accessory respiratory muscle activation, and subjective dyspnea indexes were measured. RESULTS: In this model, SpO2 was not reliable as the untimely gravity index of UAAFL. Respiratory rate, visual analogue scale (VAS), and Borg dyspnea scale were statistically correlated with UAAFL (p < 0.0001 for RR and p < 0.05 for VAS and Borg scale). No significant changes were observed on heart rate (p > 0.05) and tidal volume (p > 0.05); a RR ≤ 7 breaths/min; VAS and Borg scale showed statistically significant parameters changes (p < 0.05). CONCLUSIONS: RR, VAS, and Borg dyspnea scales are sensitive parameters to detect and stage, easily and quickly, the gravity of an upper airways impairment, and should be used in emergency settings for an early diagnosis of a UAAFL. SpO2 is a poorer predictor of the degree of upper airways flow limitation.

Metastasis to parotid gland from non Head and Neck tumors.

PURPOSE: Most primary tumors spreading metastasis to the parotid gland are usually located in the head and neck region, nonetheless, rarely, parotid gland can also be the target of metastatic localization site of distant primary tumors. The purpose of this study was to describe a clinical series of metastasis to the parotid gland from distant primary tumors (non Head & Neck). METHODS: The clinical databases of parotid tumors in two academic centers have been analyzed and 11 cases of parotid metastatic cancers from distant primary tumors were found. RESULTS: Primary tumor was lung cancer in 8 cases, and breast cancer, gastric carcinoma and pancreatic carcinoma in one case each. CONCLUSIONS: Parotid metastases can be the first clinical manifestation of a malignant tumor from a distant site and can manifest years after curative-intent treatment of the distant primary. Histopathology and immunohistochemistry can help in the identification of the primary site. Parotidectomy with complete excision of the parotid lesion may have diagnostic and/or loco-regional control and/or curative intent, however there is still no international consensus about the therapy of parotid malignant metastasis.

Assessment Tools for Use in Patients with Ménière Disease: An Update.

A number of electrophysiological tests have been proposed for the initial diagnostic assessment or for the follow-up phase of patients affected by Ménière disease. The most common are: (i) vestibular evoked myogenic potentials (VEMPs); (ii) electrocochleography (ECochG); and (iii) otoacoustic emissions (OAEs). This paper presents the latest clinical developments with these 3 testing modalities. The PubMed, Embase, and Cinahl databases were searched from 2006 to December 2016. Full-text articles were obtained in cases where the title, abstract, or key words suggested that the study may be eligible for this review. The medical subject heading (MeSH) terms included the following: Ménière, hearing threshold, vestibule, otoacoustic emissions, inner ear, ECochG, VEMPs. There were 368 identified papers, out of which 87 were eligible for inclusion. Overall the data in the literature are still limited and the recommended procedures have not reached an international consensus. From the available data, one can conclude that none of the electrophysiological tests could be considered as pathognomonic, for the diagnosis of Ménière disease: presently, the tests could be mostly used in a supportive role to the clinical diagnosis. Hopefully, in the future, improved technology in electrophysiological testing could contribute to the development of better strategies for the diagnosis of Ménière disease.

The impact of dizziness on quality-of-life in the elderly.

Dizziness is a common medical condition that has been related to falls in the elderly, and it is, therefore, considered a severe social health problem. Particularly in the elderly, the impact of dizziness may be relevant, as it has been linked to several conditions, such as isolation, depression, reduced self autonomy, and self control. The social, functional, and psychological well-being of those affected can be hampered significantly, thus reducing the quality-of-life (QoL) perception. In addition, due to the aging of the population in the developed world, dizziness is becoming a growing public health problem; an optimal management of this condition includes, nowadays, the improvement of rehabilitative programs, as well as the evaluation of QoL status and its management. The aim of this paper is to evaluate the impact of dizziness on the QoL in the elderly, also analyzing the instruments available, nowadays, to evaluate QoL of dizzy patients.

Patent Foramen Ovale as Possible Cause of Sudden Sensorineural Hearing Loss: A Case Report.

OBJECTIVE: To present a case of sudden sensorineural hearing loss (SSNHL) and the related diagnostic workup. CLINICAL PRESENTATION AND INTERVENTION: A 54-year-old man presented with a unilateral SSNHL episode and vertigo. A severe patent foramen ovale (PFO) that included a complete ear nose and throat, audiological, and neurological examination was discovered during the diagnostic workup. Audiometry, blood, and serological tests were performed. Magnetic resonance imaging and color Doppler echography of the supra-aortic trunks and lower limbs were carried out. Finally, transthoracic followed by transesophageal echocardiography and transcranial Doppler were performed in order to confirm the diagnosis of PFO. Medical therapy with systemic steroid and antiplatelet drugs was administered. CONCLUSIONS: This case showed a small PFO associated with an aneurysmatic interatrial septum. The PFO and paradoxical thromboembolism could be involved in the pathogenesis of SSNHL.