Transoral removal of submandibular hilar lithiasis: results on the salivary duct system, glandular parenchyma, and quality-of-life recovery.

OBJECTIVE(S): To confirm that hilar transoral submandibular sialolitectomy (TOSL) is the first treatment option for submandibular hilar lithiasis (SHL) in terms of glandular parenchyma recovery, salivary system restoration, and patient quality of life (QoL) improvement. METHODS: Depending on whether the stone was easily palpable, TOSL was carried out with or without sialendoscopy. For the first time in the literature, Magnetic Resonance Sialography (MR-Si) was performed before and after TOSL, to evaluate stone characteristics, glandular parenchyma status, hilum dilation and main duct recanalization. Radiological data was examined independently by two radiologists. COSQ, a recently validated and specific questionnaire, was used to assess associated QoL. RESULTS: Between 2017 and 2022, 29 TOSL patients were examined. With a high interobserver correlation, MR-Si was confirmed as a very useful radiological test in the pre- and post-surgical evaluation of SHL. The salivary main duct was completely recanalized in all cases. The presence of lithiasis was found in 4 patients (13.8%). After surgery, the majority of patients (79.31%) had hilum dilation. There was a statistically significant improvement in parenchyma status, but no significant progression to glandular atrophy. After surgery, COSQ mean values always improved (22.5 to 4.5). CONCLUSIONS: TOSL is the ideal surgical technique for the management of SHL, resulting in improved parenchymal inflammatory changes, recanalization of Wharton's duct, and enhancement patients' QoL. As a result, before removing the submandibular gland, TOSL should be considered as the first treatment option for SHL.

Epidemiologic, radiologic, and sialendoscopic aspects in chronic obstructive sialadenitis.

PURPOSE: Chronic obstructive sialadenitis (COS) is a recurring inflammation of the salivary gland. To date, there are no known predisposing factors for COS. Given the advances seen in radiology and sialendoscopy, we must update our knowledge of COS, analyzing factors that can favor its development. METHODS: We prospectively analyzed 333 patients who underwent sialendoscopy between 2012 and 2021. Epidemiologic, radiologic, and sialendoscopy-related factors were correlated. Suspected diagnosis was established based on the clinical and radiologic data. The final diagnosis was determined on the basis of sialendoscopic findings. RESULTS: The most common etiology of COS was stricture (40.8%). Lack of papilla distensibility (LPD) was also described as an etiology. COS was related to patient gender and age. Submandibular gland involvement was significantly more associated with lithiasis and LPD, while COS of the parotid gland was most frequently caused by stricture. Radioiodine sialadenitis and Sjögren's syndrome were significantly associated with stricture. MR sialography (MR-Si) showed the best overall sensitivity and specificity. CONCLUSION: In our series, stricture was the most common cause of COS. We describe LPD as a frequent cause of COS in this series; ours is the first study to report this finding. There was a significant association between the salivary gland involved, patient sex and age, and the cause of COS. MR-Si showed the greatest diagnostic yield.

Microscopic approach for repairing nasal septal perforations using bilateral advancement flaps.

BACKGROUND: Septal perforations consist in an anatomic defect of the mucosal, cartilaginous and/or bone tissues of the nasal septum. A huge variety of approaches and techniques for nasal perforation repair have been reported. METHODOLOGY/PRINCIPAL: Between January 2008 and January 2017, 38 patients were treated for nasal septal perforation in Department of Otorhinolaryngology Head and Neck Surgery, Fundación Jiménez Díaz University Hospital, Madrid, Spain. A novel approach is presented based on microscope. Septal perforation closure was performed with endonasal bilateral advancement flaps-established technique and autologous cartilage and muscle temporal fascia grafts. We performed a retrospective review of closure rates and complications. RESULTS: A postoperative follow-up of at least 12 months was performed in 37 patients. The mean size of perforation was 1.33 cm. After the withdrawal of the silicone splints, perforations were completely closed in all cases. However, during the follow-up, four patients resulted in a reperforation, so our closure rate was 89.19%. For all cases, symptoms related to septal defect were solved. Only one case was reported of local infections that was resolved with antibiotics in a few days. CONCLUSIONS: Microscopic approach of septal perforation closure using bilateral advancement flaps can be an affordable technique with a high percent of success and low rate of complications.

Sialolithiasis in an Accessory Submandibular Gland Identified by Magnetic Resonance Sialography.

BACKGROUND: Accessory submandibular gland is a very rare anatomical variant. There have been only 6 reported cases of this entity in the English literature, only 1 of which was identified using magnetic resonance imaging. METHODS: We report the case of a 39-year-old female with symptoms of left submandibular sialoadenitis who was diagnosed of sialolithiasis within the left accessory submandibular gland by magnetic resonance sialography (MR-Si). RESULTS: The calculus was palpated near the submandibular papilla and was extracted by an intraoral approach. One-year follow-up revealed no evidence of recurrence. CONCLUSIONS: This is the first case reported to date in the English literature of a patient with sialolithiasis within an accessory submandibular gland diagnosed by MR-Si.

Moderate-High Blood Eosinophilia Is Associated with Increased Hospitalization and Other Asthma Comorbidities.

(1) Background: Eosinophilia has traditionally been linked to eosinophilic asthma, for which it is the gold-standard prognostic biomarker. However, the association between eosinophilia and the presence of other diseases and comorbidities is yet unclear. (2) Methods: For this retrospective study, we reviewed the electronic medical records of 49,909 subjects with blood eosinophilia to gather data on the presence of asthma, COPD, sleep apnea, tuberculosis, dyslipidemia, hypertension, and other cardiovascular diseases and severe CRSwNP among these subjects. Demographic features including age, sex, and smoking habits were collected, as well as the number of hospitalizations and emergency department visits. T-tests, ANOVA, Fisher test, and logistic regression models were used. (3) Results: For all age groups studied, eosinophilia was significantly more prevalent among asthmatic subjects than nonasthmatics, especially in patients also presenting CRSwNP, hypertension, and dyslipidemia. The likelihood of developing asthma, COPD, and CRSwNP, and hospitalization, was increased when BEC was above 600 eosinophils/µL. The association between asthma, CRSwNP, and BEC was corroborated by multiple logistic regressions models. (4) Conclusions: We demonstrated the association of having over 600 blood eosinophils/µL with a higher number of hospitalizations and comorbidities (CRSwNP and COPD), which proves that BEC is a highly useful parameter to consider in subjects who present blood eosinophilia.

Validation of a Spanish chronic obstructive sialadenitis quality of life questionnaire (CSOC).

BACKGROUND AND OBJECTIVES: Interest in chronic obstructive sialadenitis is increasing with the introduction of sialendoscopy. A self-administered instrument to assess quality of life in patients with chronic obstructive sialadenitis is needed to improve clinical management and support research. The objectives of this study are to design a Spanish questionnaire to assess quality of life in chronic obstructive sialadenitis, named CSOC and assess its reliability, validity and feasibility. MATERIAL AND METHODS: A prospective, multicentre, observational study was conducted. Patients with diagnosis of chronic obstructive sialadenitis were included in the study. The item generation process included a review of published data as well as interviews with patients. An expert panel then tested the content validity of the instrument, and the construct validity was tested in 120 patients and 100 controls. Patients completed a self-administered CSOC questionnaire, a Short Form-36 and a Visual Analogue Scale. Feasibility, reliability, internal consistency, construct validity and responsiveness were assessed. RESULTS: All the patients found the instrument understandable. Cronbach α coefficient was high (0.85). The time required to fill out was 5.7 and 4.5min for pre and postsialendoscopy CSOC respectively. Cronbach α coefficient was very high for both pre and postsialendoscopy CSOC (0.90 and 0.94 respectively). The correlation with the SF-36 dimensions was negative and positive with the VAS. The mean score of CSOC was 28.63 and 8.33 for pre and postsialendoscopy. In the control group the mean score of CSOC was 1.31. CONCLUSIONS: The CSOC questionnaire is understandable, feasible, reliable and representative of quality of life in chronic obstructive sialadenitis.

Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.

INTRODUCTION: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. METHODS: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. RESULTS: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%) patients. In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. CONCLUSIONS: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of all genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.

[Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment]. / Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato.

INTRODUCTION: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. METHODS: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. RESULTS: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. CONCLUSIONS: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.

Incidence and risk factors for radioactive iodine-induced sialadenitis.

BACKGROUND: Radioactive iodine (131I) is one of the treatments of hyperthyroidism and differentiated thyroid carcinoma (DTC). Swelling of salivary glands are one of the possible side effects of this treatment, known as radioactive iodine-induced sialadenitis (RAIS). The prevalence of RAIS varies widely and no specific risk ratio has been established. OBJECTIVES: To determine the incidence of RAIS, analysing the epidemiological data and tumour- and treatment-related factors that may influence the development of the disease. MATERIAL AND METHODS: 197 patients who received radioiodine treatment between 2015 and 2017 were studied (76.6% women). The variables studied were age, gender, weight, height, and body mass index; presence of high blood pressure, dyslipidemia, diabetes, and thyroid diseases; cumulative radioiodine dose, presence of sialadenitis, affected salivary gland, and the time of onset. RESULTS: 14 patients developed sialadenitis (78.6% women), all with DTC. The incidence of sialadenitis was 3.4% overall and 6.3% among DTC patients. Furthermore, we found that higher cumulative radioiodine doses confer a greater risk of developing sialadenitis, with a hazard ratio of 1.009 (p = .001). No association was found between the epidemiologic data studied and sialadenitis. CONCLUSIONS: In this series, a dose-dependent relationship was found between radioiodine treatment and sialadenitis.

Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato / Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment

Introducción: El hipogonadismo hipogonadotropo congénito (HHC) puede presentarse de manera aislada o acompañado de anosmia o de malformaciones congénitas. Más de 30 genes han sido implicados en la patogénesis de HHC; además, se han descrito varios patrones de herencia asociados a esta entidad. La creciente disponibilidad de técnicas de secuenciación masiva (NGS) ha permitido que aumente el rendimiento diagnóstico del estudio de esta patología. Pacientes y métodos: Evaluamos el rendimiento diagnóstico del estudio mediante NGS de pacientes con HHC, usando la secuenciación del exoma clínico filtrado por paneles virtuales. Además, se analizó si el diseño de estos paneles, basándose en la presencia/ausencia de microsmia/anosmia aumentaban este rendimiento diagnóstico. Resultados: Usando un panel virtual compuesto de 34 genes pudimos confirmar el diagnóstico de HHC en cinco de nueve pacientes (55%). En dos de nueve individuos (22%) estudiados se obtuvieron resultados no concluyentes. La ausencia/presencia de microsmia para la elección de genes a estudiar no mejora el rendimiento diagnóstico. Conclusiones: El abordaje del estudio genético de pacientes con HHC puede variar en función de las técnicas disponibles en cada centro, por lo que la sensibilidad del test utilizado variará, dependiendo si se utiliza secuenciación de paneles, exoma clínico o exoma completo. El análisis de todos los genes relacionados con HHC independientemente de la presencia/ausencia de microsmia pareciera el abordaje con mejor rendimiento. (AU)

Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. Methods: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. Results: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. Conclusions: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach. (AU)

Validación de un cuestionario específico de calidad de vida en sialoadenitis obstructiva crónica (CSOC) / Validation of a Spanish chronic obstructive sialadenitis quality of life questionnaire (CSOC)

Antecedentes y objetivos: El interés en la sialoadenitis obstructiva crónica está aumentando con la introducción de la sialoendoscopia. Es necesario contar con un instrumento para evaluar la calidad de vida en los pacientes con sialoadenitis obstructiva crónica que permita mejorar el manejo clínico y apoyar la investigación. Los objetivos del presente trabajo son diseñar un cuestionario en español para evaluar la calidad de vida en los pacientes con sialoadenitis obstructiva crónica, denominado CSOC, y evaluar su fiabilidad, validez y viabilidad.Material y métodosEstudio prospectivo, multicéntrico, observacional, en el que se incluyeron pacientes con diagnóstico de sialoadenitis obstructiva crónica. Se realizaron una búsqueda bibliográfica y entrevistas con pacientes para la generación de las preguntas del cuestionario. A continuación, un panel de expertos evaluó la validez de contenido. La validez de constructo fue evaluada en una muestra de 120 pacientes y 100 controles. Los pacientes contestaron un CSOC, un short form-36 (SF-36) versión en español y una escala visual analógica (EVA). Se evaluó la viabilidad, la fiabilidad, la consistencia interna, la validez de constructo y la sensibilidad al cambio.ResultadosTodos los pacientes encontraron comprensible el instrumento. El tiempo requerido para completar el CSOC pre y postsialoendoscopia fue de 5,7 y 4,5min, respectivamente. El coeficiente α de Cronbach fue muy alto para el CSOC pre y postsialoendoscópico (0,90 y 0,94, respectivamente). La correlación con las dimensiones del SF-36 fue negativa y positiva con la EVA. La puntuación media del CSOC en el grupo con sialoadenitis fue de 28,63 (antes de la sialoendoscopia) y de 8,33 (después de la sialoendoscopia). En el grupo control la puntuación media del CSOC fue de 1,31.ConclusionesEl CSOC es comprensible, factible, fiable y representativo de la calidad de vida en pacientes con sialoadenitis obstructiva crónica.

Background and objectives: Interest in chronic obstructive sialadenitis is increasing with the introduction of sialendoscopy. A self-administered instrument to assess quality of life in patients with chronic obstructive sialadenitis is needed to improve clinical management and support research. The objectives of this study are to design a Spanish questionnaire to assess quality of life in chronic obstructive sialadenitis, named CSOC and assess its reliability, validity and feasibility.Material and methodsA prospective, multicentre, observational study was conducted. Patients with diagnosis of chronic obstructive sialadenitis were included in the study. The item generation process included a review of published data as well as interviews with patients. An expert panel then tested the content validity of the instrument, and the construct validity was tested in 120 patients and 100 controls. Patients completed a self-administered CSOC questionnaire, a Short Form-36 and a Visual Analogue Scale. Feasibility, reliability, internal consistency, construct validity and responsiveness were assessed.ResultsAll the patients found the instrument understandable. Cronbach α coefficient was high (0.85). The time required to fill out was 5.7 and 4.5min for pre and postsialendoscopy CSOC respectively. Cronbach α coefficient was very high for both pre and postsialendoscopy CSOC (0.90 and 0.94, respectively). The correlation with the SF-36 dimensions was negative and positive with the VAS. The mean score of CSOC was 28.63 and 8.33 for pre and postsialendoscopy. In the control group the mean score of CSOC was 1.31.ConclusionsThe CSOC questionnaire is understandable, feasible, reliable and representative of quality of life in chronic obstructive sialadenitis. (AU)