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Introduction: To document through a case report the ENT manifestations of the STING-associated vasculopathy with onset in infancy (SAVI) syndrome, remarking their value to achieve the diagnosis., Case Summary: A man in his forties presented with exercise-related dyspnoea and cold-exacerbated painful lesions over the nasal tip, cheeks, ears, and feet since his early childhood. The ENT manifestations included cartilaginous necrosis (both auricles and nasal tip) and a 1-cm anterior septal perforation. A familiar inheritance pattern was evident and genetic studies confirmed the diagnosis of a SAVI syndrome. Therapy with JAK inhibitors was implemented, resulting in a favorable response., Discussion: SAVI syndrome is a recently described disease with recognizable otolaryngologic manifestations that may be key to clinical suspicion and genetic diagnosis., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

Purpose of Review: We aimed to review the latest evidence regarding the value of tissue histopathological analysis in chronic rhinosinusitis with nasal polyps (CRSwNP) and to facilitate tissue analysis by proposing a pragmatic checklist for clinical settings., Recent Findings: CRSwNP is a chronic inflammatory disease that severely impairs the patient's quality of life. The severity of the disease can be correlated with nasal polyps enriched in eosinophils/IL-5 and, although ≥ 10 eosinophils per high power field are considered enough to determine an eosinophilic CRS, this cut-off value, the biopsy method, and the sampling location are still a matter of debate. Besides, tissue eosinophil values might also have some added value when combined with other cellular counts (e.g., eosinophil-to-lymphocyte ratio, Charcot-Leyden crystals). Structured histopathology analysis of sinonasal tissue-including, for instance, tissue remodelling biomarkers, fibrosis, and eosinophilic aggregates-has proven to be a valuable tool for healthcare professionals to identify different pheno-endotypes of CRSwNP and to improve the prioritisation of candidates to targeted therapies. Patients with CRSwNP are treated according to their severity with corticosteroids (intranasal and systemic), endoscopic sinus surgery, and/or biological therapy. A panel of expert ear, nose, and throat specialists and pathologists proposed a pragmatic checklist to improve the clinical practice around tissue analysis in CRSwNP, to facilitate communication between hospital-based healthcare professionals, and to standardize the evaluation of inflammatory biomarkers., (© 2024. The Author(s).)

Enchondromas, common benign intramedullary cartilaginous tumors, typically arise asymptomatically in metaphysis and diaphysis. We report a case diagnosed and treated for a giant sinonasal enchondroma, an extremely uncommon localization. Few cases have been reported in this location, and additional data is needed to draw conclusions regarding the potential for malignancy., Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-024-04620-z., Competing Interests: Conflict of InterestThe authors declare that they have no conflict of interest., (© The Author(s) 2024.)

A case of mpox pharyngitis in absence of cutaneous lesions is reported. Usually, clinical presentation is either a cutaneous eruption or a combination of cutaneous and mucosal lesions. In patients with atypical pharyngitis, regardless of the presence of skin lesions, pharyngeal swabs should be collected to rule out mpox., Competing Interests: Conflict of InterestNot applicable., (© The Author(s) 2024.)

The labyrinthine bifurcation of the facial nerve is extremely rare. Diverse congenital temporal bone anomalies usually coexist, and a detailed preoperative evaluation is needed to detect them. We report a case of labyrinthine bifurcation of the facial nerve detected on the preoperative evaluation of a patient with congenital aural atresia., Competing Interests: Competing InterestsNone.Conflict of interestWe declare no conflicts of interest and no financial contributions., (© The Author(s) 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its management remains a challenge. Here we report a case focusing on its clinical course, radiological features, and management., Competing Interests: Competing InterestsNone., (© The Author(s) 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Introduction: SARS COV-2 infection is an emerging disease that has become a global pandemic since the beginning of 2020. To reduce transmission, measures have been imposed by governments such as home confinement, the use of masks, social distancing or promotion of hand hygiene. The aim of this study is to determine if the measures adopted to reduce the COVID-19 pandemic have produced a decrease in the incidence of infectious diseases and their complications in the ENT area in our center., Material and Methods: A retrospective descriptive study was carried out in a tertiary hospital of patients aged between 0 and 15 years who required admission due to deep cervical infections, complications derived from acute otitis media (mastoiditis or facial paralysis) or complicated acute sinusitis., Results: There is a notable decrease in the number of global admissions in the COVID period (9) compared to the average of the previous 5 years (20.1). Likewise, there are statistically significant differences in the number of admissions for cervical infections (p value=0.027) and complications derived from acute otitis media (p value=0.029)., Discussion/conclusion: A decrease in the number of admissions caused by complications of infections in the ENT area in paediatric patients has been observed after the start of the COVID-19 pandemic in our environment, this fact could be explained by a global decrease in the number of infections of the upper respiratory tract due to the hygienic measures taken by the COVID-19 pandemic., (Copyright © 2022. Published by Elsevier España, S.L.U.)

The lingual abscess is rare due to several protective mechanisms against infection in this location. Concretely, the abscess in the base of the tongue (posterior lingual abscess) is even more exceptional. Its prompt detection is crucial to avoid potentially fatal airway complications. To familiarize physicians with this condition, we report 2 cases of posterior lingual abscess. Both were referred to our emergency department due to minor oropharyngeal complaints. Finally, both were diagnosed and required surgical drainage. The clinical evolution was successful: both were discharged in less than 72 hours and follow-up one week later confirmed clinical recovery.

Background: Iodine contrast-induced sialadenitis (CIS) is an uncommon adverse effect to iodine-containing contrast exposition. There is scarce literature about its clinical course and demography., Objectives: (1) To determine the clinical course and management of CIS. (2) To understand if CIS might be as rare as reported., Material and Methods: A 2-month prospective observational study was conducted in the emergency room of a tertiary institution. ENT physicians on call received clinical formation about CIS while emergency physicians did not. During the study period, patients admitted at the emergency room matching the clinical and radiological features of CIS, were included. Information about demographics, iodine exposure, diagnostic workup, clinical course, and management was analyzed., Results: ENT physicians on call detected 4 cases, however, emergency physicians did not. Patients were aged 68-76 years and presented a bilateral submandibular gland swelling debuting 12 to 72 h after an exposure to iodinated contrast. Characteristic ultrasonographic findings supported the diagnosis and the clinical course was self-limited after 60 to 150 h., Conclusions and Significance: Physicians' familiarity with CIS allows its detection and avoids costly and potentially harmful therapeutic/diagnostic efforts. The incidence is probably underestimated; however, further incidence studies are needed.

Background and Objective: Vestibular schwannoma is a benign tumour that originates in the eighth cranial nerve. It is termed intralabyrinthine schwannoma (ILS) when it develops in the inner ear, this being a rare origin. We present our experience in the management of three patients with ILS., Materials and Methods: The results of tumour excision and cochlear implantation were evaluated in three patients with ILS: two intracochlear schwannomas (ICS) and one intravestibular schwannoma (IVS)., Results: Prior to surgery, all patients presented progressive sensorineural hearing loss and tinnitus. Complete tumour resection and cochlear implantation was possible in all patients, with favourable hearing rehabilitation., Conclusions: The therapeutic approach will depend on tumour size, growth rate, degree of hearing loss and presence of vestibular symptoms. Cochlear implantation (CI) in patients with ILS is possible when the cochlear nerve is present and functional. CI in patients, whether or not preceded by tumour excision, is an option with good hearing results in selected patients., (Copyright © 2020 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Published by Elsevier España, S.L.U. All rights reserved.)

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a clinical entity with specific features that impacts significantly on patient quality of life (QoL). CRSwNP is often associated with asthma and is difficult to control and manage despite pharmacological and/or surgical treatment. Omalizumab, a monoclonal anti-IgE antibody, has emerged as a putative therapeutic option., Objective: To evaluate the effects of omalizumab on nasal polyp (NP) size and QoL assessed by Sino-Nasal Outcome Test-22 (SNOT-22) in patients with recalcitrant CRSwNP and mild asthma., Methods: A multicenter retrospective analysis of patient data from the Community of Valencia (Spain) was performed. Adult patients with recalcitrant CRSwNP and comorbid mild asthma receiving compassionate use of omalizumab were included. NP size measured by total nasal endoscopic polyp score (TPS) and QoL evaluated through the SNOT-22 questionnaire were assessed at baseline and monthly over 12 months. An ordinal regression model was built to analyze the results., Results: A total of 23 CRSwNP patients with a mean age (± SD) of 54.78 ± 9.46 years were included. Nineteen suffered from aspirin-exacerbated respiratory disease (AERD). In all patients, a significant and sustained reduction in TPS was observed over time, accompanied by improvements in QoL reflected in lower SNOT-22 scores. In the ordinal regression model, time but not total IgE, age or tissue eosinophilia impacted on NP size and SNOT-22 outcomes. Additionally, improvements in QoL were not explained by reductions in the size of polyps., Conclusion: Omalizumab was effective for the treatment of patients with recalcitrant CRSwNP and mild asthma, even when AERD was present, by reducing NP size and improving QoL; treatment time was a key factor. SNOT-22 improvements were not explained by decreases in TPS, indicating that omalizumab may be effective in all patients, regardless of polyp size.

Introduction: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients., Methods: This was a multicenter cross-sectional study of patients with a high suspicion of PCD, according to European Respiratory Society criteria, designed around a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD., Results: We included 79 patients, 53 of whom had a diagnosis of confirmed or highly probable PCD. The sensitivity of the gene panel was 81.1%, with a specificity of 100%. Candidate variants were found in some of the genes of the panel in 43 patients with PCD, 51.2% (22/43) of whom were homozygotes and 48.8% (21/43) compound heterozygotes. The most common causative genes were DNAH5 and CCDC39. We found 52 different variants, 36 of which were not previously described in the literature., Conclusions: The design and implementation of a tailored gene panel produces a high yield in the genetic diagnosis of PCD. This panel provides a better understanding of the causative factors involved in these patients and lays down the groundwork for future therapeutic approaches., (Copyright © 2020 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.)

Objective: To review the results of a series of patients with glottic insufficiency caused by scarred vocal folds who underwent injection laryngoplasty with centrifuged and emulsified autologous fat., Study Design: Prospective cohort., Setting: Single center, tertiary institution., Subjects and Methods: Examination of the medical records of 21 patients operated on through injection laryngoplasty with fat grafts for the treatment of dysphonia was performed. All patients were operated on between January of 2015 and September of 2019. The voice variables measured were the GRABS (Grade, Roughness, Breathiness, Asthenia, Strain) scale, the Voice Handicap Index-10 (VHI-10), maximum phonation time, jitter, shimmer, and harmonic/noise ratio before surgery and 8 months later., Results: Twenty-six injection laryngoplasties were performed in 21 patients during the reviewed period. Seventeen were men, and 4 were women. Mean age was 57.2 (range, 18-80) years. Mean (SD) follow-up time was 20.7 (9.3) months. Etiology of dysphonia was scarring after tumor resection in 17 patients and sulcus vocalis in 4. Five patients received an additional injection laryngoplasty. Statistically significant improvements were observed in all the parameters evaluated ( P < .05)., Conclusions: Injection laryngoplasty with fat grafts processed through centrifugation and emulsification is an effective technique for the treatment of dysphonia caused by glottic insufficiency related to scarred vocal folds, with minimal complication rates.

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.