A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

Background: Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus. Case presentation: We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8. Conclusion: Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.

Diagnostic and Therapeutic Strategy for Vagal Schwannoma: Case Series and Literature Review.

Background and Objectives: Clinical management of vagal schwannoma is a real diagnostic and therapeutic challenge because the medical history and clinical examination are often non-specific and vagal nerve injury following surgical resection still represents an unsolved problem. The aim of this paper is to provide a case series along with a diagnostic and therapeutic algorithm for vagal schwannoma of the head and neck, combining our experience with clinical evidence available in the literature. Materials and Methods: We retrospectively analyzed a series of patients affected by vagal schwannoma who were treated between 2000 and 2020. In addition, a review of the literature on vagal schwannoma management was conducted. Based on the cases described and the literature review, we made a diagnostic and therapeutic algorithm for the management of vagal schwannoma. Results: We were able to identify 10 patients affected by vagal schwannoma and treated between 2000 and 2020. All patients presented with a painless, mobile, slow-growing lateral neck mass with onset varying from a few months to years. The preoperative diagnostic workup included ultrasound (US) in nine cases, computed tomography (CT) with contrast in six patients and magnetic resonance imaging (MRI) of the neck in seven cases. All patients included in this study were surgically treated. Conclusions: Vagal schwannoma management represents a true challenge for clinicians and surgery is currently the most effective therapeutic strategy. A multidisciplinary approach through the collaboration of otolaryngologist with other specialists is desirable to develop a tailored treatment plan for the patient.

Endotypes of Nasal Polyps in Children: A Multidisciplinary Approach.

Nasal polyps (NPs) are rarely reported in childhood and usually represent red flags for systemic diseases, such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and immunodeficiencies. The European Position Paper released in 2020 (EPOS 2020) provided a detailed classification and defined the correct diagnostic and therapeutic approaches. We report a one-year experience of a multidisciplinary team, made up of otorhinolaryngologists, allergists, pediatricians, pneumologists and geneticists, with the aim of ensuring a personalized diagnostic and therapeutic management of the pathology. In 16 months of activity, 53 patients were admitted (25 children with chronic rhinosinusitis with polyposis and 28 with antro-choanal polyp). All patients underwent phenotypic and endo-typic assessment, using proper classification tools for nasal pathology (both endoscopic and radiological), as well as adequate cytological definition. An immuno-allergic evaluation was carried out. Pneumologists evaluated any lower airway respiratory disease. Genetic investigations concluded the diagnostic investigation. Our experience enhanced the complexity of children's NPs. A multidisciplinary assessment is mandatory for a targeted diagnostic and therapeutic pathway.

Temporomandibular Joint and Otitis Media: A Narrative Review of Implications in Etiopathogenesis and Treatment.

Otitis media (OM) and its recurring (rAOM), effusive (OME), and chronic forms, represent a frequent clinical challenge. The middle ear, the mandible, and the temporomandibular joint (TMJ) share several embryological and anatomical connections. Despite that, the role of mandibular malposition and TMJ dysfunction is frequently overlooked in the management of otitis media. In this narrative review, we present current evidence supporting the etiopathogenetic role of a dysfunctional stomatognathic system in the onset of OM and the effectiveness of orthognathic treatment in preventing rAOM and OME. In particular, a focus on the influence of TMJ on Eustachian tube function is provided.

Long-standing gustatory and olfactory dysfunction in COVID-19 patients: a prospective study.

PURPOSE: Our study aimed to describe recovery of gustatory dysfunction (GD) and olfactory dysfunction (OD) in COVID-19 patients, and to analyze variables associated with early or late recovery. METHODS: Telephone surveys were administered during an 18-month follow-up after COVID-19 diagnosis. One hundred and thirty-two included patients rated olfactory and gustatory function at each follow-up. RESULTS: One hundred and twenty-nine patients reported GD, of whom 91 (70.5%) reported severe GD, and 99 patients reported OD, of whom 84 (84.9%) reported severe OD. Seventy-two/129 (55.8%) and 52/99 (52.5%) patients reported an improvement in GD and in OD during the first 7 days from the onset, respectively. At 3-month follow-up, 110/120 patients (85.3%) recovered from GD, while 80/99 patients (80.8%) recovered from OD. At 18-month follow-up, a total of 120/129 patients (93.0%) recovered from GD and 86/99 patients (86.9%) recovered from OD; while 10 patients (7.0%) still reported GD and 13 patients (13.1%) still reported OD. Severe GD/OD at presentation were associated with late complete recovery of taste/smell (p = 0.019 and p = 0.034, respectively). Improvement over the first 7 days from onset was significantly associated with faster recovery (p < 0.001). CONCLUSIONS: More than 80% of patients reported complete recovery of olfactory/gustatory function in the first 3 months after symptom onset. At 18-month follow-up, patients reporting complete recovery of gustatory and olfactory function were 93% and 87%, respectively. Severity of chemosensory dysfunction at the onset was negatively correlated to recovery, and improvement of taste and/or smell function within the first 7 days from symptom onset was significantly associated with early resolution.

Radiological Findings in Laryngeal Anterior Commissure Invasion: CT Scan Highlights.

OBJECTIVES: Preoperative anterior commissure (AC) evaluation in glottic cancer is crucial for therapeutic decisions. Endoscopy is often inadequate to precisely detect the presence of cancer in the AC; thus, computed tomography (CT) scan could help. We investigated the relation between AC thickness on CT scan (in mm), AC involvement by cancer at histology, and radiologic signs of anterior paraglottic space (PGS) infiltration. STUDY DESIGN: Retrospective observational study. METHODS: An experienced radiologist retrospectively measured AC thickness and identified signs of anterior PGS infiltration on pretreatment contrast-enhanced CT scans of 80 patients with primary glottic cancer. The gold standard to define the presence of cancer in the AC was histology. The receiver operating characteristic (ROC) curves were used to determine the potential cut-off values of AC thickness (Youden index method) able to maximize both sensitivity and specificity in identifying the presence of cancer in the AC at histology and PGS infiltration on CT scan. RESULTS: AC was significantly thicker in patients with cancer in the AC at histology (P < .001) and in patients with PGS infiltration on CT scan (P < .001). The cut-off values to discriminate the presence of cancer at histology and PGS infiltration on CT scan were 3.62 and 2.6 mm, respectively. We found a substantial agreement between anterior PGS infiltration on CT scan and the presence of cancer in the AC at histology (Cohen Kappa: P = .70). CONCLUSION: AC thickness and radiologic signs of PGS infiltration on pretreatment CT scan could represent a method to predict the presence of cancer in the AC at histology. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:2427-2433, 2022.

Tonsillar Epithelioid Haemangioendotelioma: Description of a Rare Clinical Case.

We present a rare case of tonsillar EHE with local recurrence and neck metastasis 30 months after surgery, as well as further neck recurrence 27 months later. We describe clinical, immunohistopathological, and therapeutic aspects of the tumor highlighting the diagnostic difficulties, lack of therapeutic guidelines and need for long-term follow-up.

Prognostic value of H-index in patients surgically treated for squamous cell carcinoma of the larynx.

OBJECTIVE: Recently, a novel host-related index, the Host-index (H-index), including both inflammatory and nutritional markers, has been described and observed to stratify prognosis in patients with squamous cell carcinoma (SCC) of the oral cavity more accurately than other host-related indexes This study aimed to investigate the prognostic performance of the H-index using pretreatment blood tests in patients receiving up-front surgery for SCC of the larynx. METHODS: This retrospective observational study included a multicenter series of consecutive patients with SCC of the larynx diagnosed between 1 January 2009 and 31 July 2018, whose pretreatment blood tests were available and included the parameters necessary for the calculation of neutrophil to lymphocyte ratio (NLR) and the H-index. Their association with disease-free survival (DFS) and overall survival (OS) was measured. RESULTS: A total of 231 patients were eligible for the present analysis (median [range] age, 68 [37-96] years; 191 [82.7%] men). The median follow-up was 73 months. In multivariable Cox proportional hazards regression models, increasing age (adjusted hazard ratio [aHR], 1.07 per year; 95% CI, 1.04-1.09), advanced pT stage (aHR = 1.71 95% CI: 1.07-2.71), and having close or positive surgical margins (aHR = 2.01; 95% CI: 1.21-3.33) were significantly associated with poor OS. Among blood parameters, a higher neutrophil count was a strong predictor of both worse DFS (aHR for recurrence/death = 2.34; 95% CI: 1.24-4.40) and OS (aHR for death = 2.67; 95% CI: 1.51-4.71). Among inflammatory blood indexes, while NLR was not significantly associated with DFS or OS, patients with H-index ≥8.37 showed a higher aHR for both recurrence/death (2.82; 95% CI: 1.65-4.79) and death (2.22; 95% CI: 1.26-3.89). CONCLUSION: In conclusion, the present study confirms the prognostic value of pretreatment H-index, an easily measurable inflammatory and nutritional index, in patients with SCC of the larynx. LEVEL OF EVIDENCE: III.

Preoperative predictors of difficult oropharyngeal exposure for transoral robotic surgery: The Pharyngoscore.

BACKGROUND: Insufficient exposure may require termination of procedure in transoral robotic surgery (TORS). The aim of study was to develop a "Pharyngoscore" to quantify the risk of difficult oropharyngeal exposure (DOE) before TORS. METHODS: Three-hundred six patients undergoing any surgical procedure at one Academic Hospital were prospectively enrolled. Oropharynx was exposed with Feyh-Kastenbauer retractor. Exposure was evaluated by direct and endoscopic visualization of the four oropharyngeal subsites. Preoperative clinical/anthropometric parameters were studied in good oropharyngeal exposure and DOE groups. Logistic regression was performed to explore association between clinical/anthropometric parameters and DOE. Statistically significant parameters at multivariate analysis were incorporated into a nomogram. RESULTS: Sixty-five (21.2%) subjects were characterized by DOE. Variables associated with DOE at univariate analysis were male (p = 0.031), modified Mallampati Class (MMC) ≥ III (p < 0.001), smaller interincisor gap (p < 0.001), and larger neck circumference (p = 0.006). MMC, interincisor gap, and neck circumference were significant at multivariate analysis and were presented with a nomogram for creating the Pharyngoscore. CONCLUSIONS: The Pharyngoscore is a promising tool for calculating DOE probability before TORS.

Giant Epidermoid Cyst of Posterior Fossa-Our Experience and Literature Review.

INTRODUCTION: Intracranial epidermoid cysts are the most frequent congenital intracranial lesion. They rare and benign tumors that can present in different clinical situations depending on location and extension of the disease. Diagnosis is obtained with radiological imaging with RM and non-enhanced TC as elective investigating methods. Elective treatment is surgery, based on total/subtotal excision sparring healthy neurovascular structures, considering the benign nature of this lesion. CASE REPORT: In this study we present the case of a 79-year-old woman affected by recidivist epidermal cyst of the posterior fossa. Clinical presentation was characterized by positional subjective vertigo, intense headache localized in the right part of the head increased by Valsalva maneuver and retroarticular subcutaneous swelling. Radiological investigation found a giant epidemoid cyst of the posterior fossa (8,4 x 4,8 x 5,8 cm), treated with surgery. In the postoperative, the patient was fine and no neurological deficit has been encounterd. REVIEW: In this study, we present a review of the literature regarding giant epidermoid cysts of posterior fossa. Only 11 cases were reported before ours, which actually is one of the largest ever described.

HPV Infection in Middle Ear Squamous Cell Carcinoma: Prevalence, Genotyping and Prognostic Impact.

Middle ear squamous cell carcinoma (MESCC) is rare. Human Papilloma Virus (HPV) infection has been found in a significant number of cases of MESCC. Despite the emerging role of HPV in oncogenesis, its role in the pathogenesis and prognosis of MESCC is not known. This study aims to identify the prognostic impact of alpha and beta HPV in MESCC and its correlation with p16 protein. We retrospectively investigated 33 patients with MESCC surgically treated between 2004 and 2016. HPV DNA was ascertained by polymerase chain reaction (PCR) and P16INK4a detection was performed. Disease-specific survival (DSS) and cumulative incidence of recurrence were calculated in relation to HPV presence and genotype. p16 sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) in predicting HPV infection were calculated. HPV was detected in 66.7% of patients (36.4% alpha HPV, 63.6% beta HPV). Five-year DSS was 55.0% and was not statistically related to HPV presence (p = 0.55) or genotype (p = 0.87). Five-year cumulative incidence of recurrence was 46 %, and was not statistically related to HPV presence (p = 0.22) or genotype (p = 0.44). p16 sensitivity, specificity, PPV, and NPV in predicting HPV infection were 27.3%, 36.4%, 46.2%, and 20.0%, respectively. In our experience, beta HPV was more frequent than alpha HPV in MESCC. Neither HPV presence nor HPV genotypes relate to DSS or cumulative incidence of recurrence. p16 expression was not predictive for HPV infection in MESCC. The role of HPV infection in oncogenesis, maintenance, and prognosis of MESCC seems to be different from that in oropharynx and skin cancer.

Indications and timing for tracheostomy in patients with SARS CoV2-related.

BACKGROUND: The indications and timing for tracheostomy in patients with SARS CoV2-related are controversial. PURPOSE: In a recent issue published in the European Archives of Otorhinolaryngology, Mattioli et al. published a short communication about tracheostomy timing in patients with COVID-19 (Coronavirus Disease 2019); they reported that the tracheostomy could allow early Intensive Care Units discharge and, in the context of prolonged Invasive Mechanical Ventilation, should be suggested within 7 and 14 days to avoid potential tracheal damages. In this Letter to the Editor we would like to present our experience with tracheostomy in a Hub Covid Hospital. METHODS: 8 patients underwent open tracheostomy in case of intubation prolonged over 14 days, bronchopulmonary overlap infections, and patients undergoing weaning. They were followed up and the number and timing of death were recorded. RESULTS: Two patients died after tracheostomy; the median time between tracheostomy and death was 3 days. A negative prognostic trend was observed for a shorter duration of intubation. CONCLUSION: In our experience, tracheostomy does not seem to influence the clinical course and prognosis of the disease, in the face of possible risks of contagion for healthcare workers. The indication for tracheostomy in COVID-19 patients should be carefully evaluated and reserved for selected patients. Although it is not possible to define an optimal timing, it is our opinion that tracheostomy in a stable or clinically improved COVID-19 patient should not be proposed before the 20th day after orotracheal intubation.

Cost-effectiveness in transient hypocalcemia post-thyroidectomy.

BACKGROUND: Three different strategies to manage transient hypocalcemia after total thyroidectomy were compared to evaluate cost-effectiveness. The reliability of total serum calcium (TSCa), ionized calcium (ICa), and intact parathyroid hormone (iPTH) were investigated to achieve this goal. METHODS: A multicenter, prospective randomized study was carried out with 169 patients. The strategies were "preventive" (oral calcium + vitamin D supplementation), "reactive" (therapy in hypocalcemia), and "predictive" (therapy if iPTH <10 pg/mL). RESULTS: TSCa had higher accuracy in identifying patients who developed hypocalcemia-related symptoms than ICa (84.6% vs 50.0%). TSCa 24 h after surgery showed 24.8% of patients with hypocalcemia, whereas TSCa 48 h after surgery identified a further 10.6% with hypocalcemia (only in the "reactive" and "predictive" groups). iPTH showed low sensitivity as a predictor of hypocalcemia. Between the 3 groups, there was no significant difference in hospitalization time or number of symptomatic hypocalcemic patients. Interestingly, the cost-per-patient was significantly different among the groups. CONCLUSIONS: None of the discussed strategies allowed for early discharge of patients without any risk of transient hypocalcemia. The "preventive" strategy was the most cost-effective, despite overtreatment.

Transoral robotic retropharyngeal lymph node dissection in a recurrent head and neck carcinoma.

BACKGROUND: A step-by-step demonstration of the transoral robotic surgical approach (TORS) used in retropharyngeal node dissection (RND) in a recurrent head and neck carcinoma. METHODS: Clinical human study of TORS RND via en bloc resection using a daVinci Si system (Intuitive Surgical, Inc., Sunnyvale, California). RESULTS: A daVinci Si system provided sufficient access, reach, and visualization to perform TORS-RND. Access and exposure were achieved with a Feyh-Kastenbauer (FK) retractor (Gyrus Medical Inc., Tuttlingen, Germany). Two surgical instruments and one 3D camera arm can be deployed with minimal collision or restriction of arm movement. CONCLUSIONS: Routine transcervical, transparotid, and transmandibular RNDs can provoke potentially serious surgical morbidities and complications. This study demonstrates the technical feasibility of TORS RND in a 68-year-old man.

Lateral cervical approach for open laryngeal surgery: Technical notes.

BACKGROUND: Transoral minimally invasive techniques for laryngeal cancer have been proposed to preserve healthy tissues. The aim of this study was to describe a minimally invasive procedure for all laryngectomies with/without neck dissection using a lateral cervical approach. METHODS: A monolateral or bilateral neck incision at the level of the anterior border of the sterno-cleido-mastoid muscle is performed in accordance with the side of the neck dissection. The harvesting of an anterior myocutaneous (AMC) cervical flap, including skin, platysma, fascia superficialis, anterior jugular veins, homohyoid and sternohyoid muscles is performed. A neck dissection is executed through the same skin incision. Contraindication is represented by extralaryngeal spread with the involvement of the strap muscles. Supra-hyoid, sternohyoid, and homohyoid muscles and hyoid bone are preserved. CONCLUSION: Open partial/total laryngectomies through a lateral cervical approach are feasible and safe. This surgical access with an AMS cervical flap allows to simultaneously perform neck dissections and the removal of the entire laryngeal specimen.

Cervical lymphadenopathy: can the histogram analysis of apparent diffusion coefficient help to differentiate between lymphoma and squamous cell carcinoma in patients with unknown clinical primary tumor?

PURPOSE: To retrospectively evaluate the value of whole-lesion histogram analysis of apparent diffusion coefficient (ADC) maps in differentiating between lymphoma and metastatic squamous cell carcinoma (SCC) of unknown clinical primary in neck nodes. METHODS: A total of 39 patients, 20 affected by lymphoma and 19 affected by metastatic non-nasopharyngeal SCC, were included in this retrospective study. All patients underwent MR imaging with a 1.5 T scanner system, including diffusion-weighted imaging (DWI) with three different b values (b = 0, 500 and 800 s/mm2). The entire tumor volume was manually delineated on the ADC maps, using the T2-weighted images and DWIs with b = 800 s/mm2 as a guide to the lesion location. The Mann-Whitney rank-sum test for independent samples was performed to compare the histogram parameters of patients with lymphoma and SCC. RESULTS: The SCCs showed significantly higher median ADC (ADCmedian) and mean ADC (ADCmean) values, compared to lymphomas (p < 0.001), while they exhibited lower kurtosis and skewness without reaching significance (p = 0.066 and 0.148, respectively). The ADCmean and ADCmedian had the best discriminative powers for differentiating lymphoma and SCC, with an area under the curve of 87% and 85%, respectively. The optimal cutoff values for ADCmean and ADCmedian as predictors for lymphoma were ≤ 0.83 × 10-3 mm2/s and ≤ 0.73 × 10-3 mm2/s, respectively. CONCLUSIONS: The whole-lesion ADC histogram analysis of cervical lymphadenopathy may help to discriminate lymphomas from non-nasopharyngeal SCC in patients with unknown clinical primary tumor.