Pseudotumor de rinofaringe tuberculoso

New Laboratory Protocol to Determine the Oxidative Stress Profile of Human Nasal Epithelial Cells Using Flow Cytometry

Several studies have shown the importance of oxidative stress (OS) in respiratory disease pathogenesis. It has been reported that the nasal epithelium may act as a surrogate for the bronchial epithelium in several respiratory diseases involving OS. However, the sample yields obtained from nasal biopsies are modest, limiting the number of parameters that can be determined. Flow cytometry has been widely used to evaluate cellular OS profiles. It has the advantage that analyses can be performed using a small amount of sample. Therefore, we aimed to set up a new method based on flow cytometry to assess the oxidative profile of human nasal epithelial cells which could be used in research on resp…

Primary ciliary dyskinesia assessment by means of optical flow analysis of phase-contrast microscopy images

Primary ciliary dyskinesia implies cilia with defective or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis and male infertility. Diagnosis can be difficult and is based on an abnormal ciliary beat frequency (CBF) and beat pattern. In this paper, we present a method to determine CBF of isolated cells through the analysis of phase-contrast microscopy images, estimating cilia motion by means of an optical flow algorithm. After having analyzed 28 image sequences (14 with a normal beat pattern and 14 with a dyskinetic pattern), the normal group presented a CBF of 5.2 +/- 1.6 Hz, while the dyskinetic patients presented a 1.9 +/- 0.9 Hz CBF. The cutoff …

Desarrollo y validación de un método de análisis de la movilidad ciliar para el diagnóstico precoz de la discinesia ciliar primaria

Resumen Introduccion La discinesia ciliar primaria (DCP) es una entidad clinica de dificil diagnostico debido a que la motilidad y la estructura ciliar pueden variar segun los pacientes. El objetivo principal ha sido evaluar la sensibilidad y especificidad para el diagnostico de la DCP de un sistema de videoanalisis de alta resolucion digital junto con un software propio desarrollado por nosotros para el analisis de la movilidad ciliar (Desinsoft-Bio 200). El objetivo secundario ha sido relacionar la actividad nasal ciliar con la clinica y las anomalias estructurales del cilio respiratorio. Material y metodos Se analizaron el transporte mucociliar mediante un metodo isotopico, la ultraestru…

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-li…

Epileptic Crisis by Pneumoencephalon as the First Manifestation of an Ethmoid-Frontal Osteoma

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…

IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

Este artículo se encuentra disponible en la siguiente URL: https://journals.sagepub.com/doi/pdf/10.1177/2152656721989288 Background: Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods: The expression of one intraflagellar transport (IFT46) and two regulating ciliary architecture (FOXJ1 a…

Respiratory syncytial virus inhibits ciliagenesis in differentiated normal human bronchial epithelial cells: effectiveness of N-acetylcysteine.

Persistent respiratory syncytial virus (RSV) infections have been associated with the exacerbation of chronic inflammatory diseases, including chronic obstructive pulmonary disease (COPD). This virus infects the respiratory epithelium, leading to chronic inflammation, and induces the release of mucins and the loss of cilia activity, two factors that determine mucus clearance and the increase in sputum volume. These alterations involve reactive oxygen species-dependent mechanisms. The antioxidant N-acetylcysteine (NAC) has proven useful in the management of COPD, reducing symptoms, exacerbations, and accelerated lung function decline. NAC inhibits RSV infection and mucin release in human A54…

A Ciliary Motility Index for Activity Measurement in Cell Cultures With Respiratory Syncytial Virus

[EN] Background: The respiratory epithelium is frequently infected by the respiratory syncytial virus, resulting in inflammation, a reduction in cilia activity and an increase in the production of mucus. Methods: In this study, an automatic method has been proposed to characterize the ciliary motility from cell cultures by means of a motility index using a dense optical flow algorithm. This method allows us to determine the ciliary beat frequency (CBF) together with a ciliary motility index of the cells in the cultures. The object of this analysis is to automatically distinguish between normal and infected cells in a culture. Results: The method was applied in 2 stages. It was concluded fro…

New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.

Background Primary ciliary dyskinesia (PCD) is a congenital hereditary disease affecting 1/20,000–60,000 people that causes chronic sinusitis, bronchiectasis, sinus hypoplasia, secretory otitis media, and low fertility. The complexity and heterogeneity of the disease make diagnosis difficult. Although the genetic origin of PCD is clear, mutations in only five genes have been associated with the disease, and, to date, no disease-causing gene has been identified. Recently, low levels of AK7 gene expression have been linked to PCD. This study was designed to determine the mutational status of the AK7 gene in 31 PCD (17 PCD and 14 Kartagener syndrome diagnosed) patients compared with 40 healthy…

Sistema inteligente para protocolizar el diagnóstico de invasión ganglionar en el cáncer de laringe

Laryngeal carcinoma is the most frequent malignant tumour in head and neck. Node invasion is known to be one of the most important prognostic factors. The aim of this study has been to design an intelligent system to perform a diagnostic algorithm of metastasic neck nodes. 122 clinical reports of patients diagnosed of laryngeal carcinoma in our department have been reviewed. The compiled data have been: tumor site, T stage, N stage (clinical, after CT scan and post-surgery). The method used to design the intelligent system has been the ID3, which is able to generate a minimal decision tree. Palpation has been the variable that has given more information about node invasion. CT has proved to…

Tuberculous Pseudotumor of the Rhinopharynx

Ultrastructural patterns of primary ciliar dyskinesia syndrome.

Clinical presentation, ciliary ultrastructure, and nasal mucociliary transport by a radioisotopic technique were analyzed in 14 Kartagener syndrome patients. In this study the most common pattern was the absence of outer and inner dynein arms in 57% of cases. Also reported are 14% patients with short inner dynein arms. A total of 29% of the patients showed normal dynein arms. Mucociliary stasis was observed in 13 cases. Primary ciliary dyskinesia syndrome and Kartagener syndrome are clinically homogeneous and morphologically heterogeneous. The authors conclude that a typical clinical presentation with an altered mucociliary transport obtained by radioisotopic technique is diagnostic althoug…

Correlaciones entre aspectos clínicos e histológicos en la poliposis nasal

Introduccion El estudio histologico de los polipos nasals no muestra lesiones especificas, pero la infiltracion de la mucosa por eosinofilos parece ser una caracteristica de la poliposis nasal. El objetivo del trabajo es estudiar las posibles relaciones entre algunos aspectos histologicos y clinicos en la poliposis nasal. Asimismo pretendemos comparar la cuantificacion de la eosinofilia tisular segun el numero de eosinofilos por campo con la obtenida porcentualmente respecto al total de celulas inflamatorias. Material y metodo Hemos estudiado a 40 pacientes con poliposis nasal bilateral idiopatica y valoramos las correlaciones existentes entre diversos aspectos clinicos, como el estadio end…

Evaluation of Mucociliary Clearance by Three Dimension Micro-CT-SPECT in Guinea Pig: Role of Bitter Taste Agonists

Different image techniques have been used to analyze mucociliary clearance (MCC) in humans, but current small animal MCC analysis using in vivo imaging has not been well defined. Bitter taste receptor (T2R) agonists increase ciliary beat frequency (CBF) and cause bronchodilation but their effects in vivo are not well understood. This work analyzes in vivo nasal and bronchial MCC in guinea pig animals using three dimension (3D) microCT-SPECT images and evaluates the effect of T2R agonists. Intranasal macroaggreggates of albumin-Technetium 99 metastable (MAA-Tc99m) and lung nebulized Tc99m albumin nanocolloids were used to analyze the effect of T2R agonists on nasal and bronchial MCC respecti…

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our series and their effect in the splicing process by minigene assays. These variants were selected according to bioinformatic analysis. The second aim was to analyze the USH1 transcripts, obtained from nasal epithelial cells samples of our patients, in order to corroborate the observed effect of mutations by minigenes in patient’s tissues. The last objective was to evaluate the nasal ciliary beat fre…

Correlations Between Clinical and Histological Aspects in Nasal Polyposis

Introduction The histological study of nasal polyps does not reveal any specific lesions but eosinophilic infiltration nasal mucosae seems to be characteristic of nasal polyposis. The aim of this work is to study possible links between certain histological and clinical aspects in nasal polyposis. Furthermore, we attempt to compare the quantification of tissue eosinophilia according to the number of eosinophils per field with the percentage figure obtained with respect to the total of inflammatory cells. Material and method We have studied 40 patients with idiopathic bilateral nasal polyposis, assessing the correlations between various clinical aspects such as their endoscopic and radiologic…

MUC4 impairs the anti-inflammatory effects of corticosteroids in patients with chronic rhinosinusitis with nasal polyps

Background Current evidence suggests that membrane-tethered mucins could mediate corticosteroid efficacy, interacting with glucocorticoid receptor (GR) in patients with chronic rhinosinusitis with nasal polyps (CRSwNP). Mucin 4 (MUC4)–tethered mucin is expressed in nasal polyp (NP) epithelial cells and upregulated under inflammatory conditions. Moreover, MUC4β has the capacity to interact with other intracellular proteins. We hypothesized that MUC4 modulates corticosteroid efficacy of patients with CRSwNP. Objective We sought to analyze the role of MUC4 in corticosteroid effectiveness in different cohorts of patients with CRSwNP and elucidate the possible mechanisms involved. Methods Eighty…

Roflumilast N-Oxide Partially Prevents The Loss Of Ciliated Human Airway Epithelial Cells Secondary To Incubation With Cigarette Smoke Extracts In Vitro

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

Este artículo se encuentra disponible en la siguiente URL: https://www.mdpi.com/2075-4418/11/7/1301 Este artículo de investigación pertenece al número especial "Progress in Diagnosing and Managing Primary Ciliary Dyskinesia". Primary ciliary dyskinesia (PCD) is a rare disease resulting from a defect in ciliary function that generates, among other issues, chronic upper and lower respiratory tract infections. European guidelines recommend studying ciliary function (pattern (CBP) and frequency (CBF)), together with characteristic clinical symptoms, as one of the definitive tests. However, there is no “gold standard”. The present study aims to use high-speed video microscopy to describe how CBF…

Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.

Background Adenylate kinase 7 (AK7) mediates the reaction 2ADP ↔ ATP + AMP, providing energy for the beating of cilia. A study recently showed that AK7 expression may be correlated with the primary ciliary dyskinesia (PCD) phenotype in mice. In this study, we characterized AK7 expression in vitro in an air–liquid interface (ALI) model and in middle nasal turbinate biopsy specimens from a cohort of patients with PCD to elucidate whether AK7 expression is correlated with ciliary malfunction. Methods AK7 expression was measured by real-time reverse-transcription polymerase chain reaction and Western blotting. In vitro differentiated nasal human epithelial cell siRNA experiments were performed …

[Transphenoidal endoscopic approaches for pituitary adenomas: a critical review of our experience].

Abstract Background The surgical approach to the pituitary fossae has evolved from transcranial to sublabial and transseptal microscopic ones, up to the current transsphenoidal endoscopic approach. Objectives To present our experience in the transnasal transsphenoidal approach for pituitary adenomas and the modifications introduced to improve tumoral resection and to lower iatrogenia. Material and methods Over nine years, we operated on 37 patients with pituitary adenomas using the transsphenoidal endoscopic approach. We utilised optical lens of 0° (approach) and 30° (adenoma resection), optic navigator, surgical instruments for nasal endoscopic and pituitary surgery. During the neurosurgic…

Una técnica simple y segura para el tratamiento de las rinolicuorreas por pequeños defectos: colgajo libre de superposición «overlay» de mucosa nasal

Resumen Introduccion Las fistulas de liquido cefalorraquideo hacia las cavidades nasosinusales (rinolicuorreas) constituyen un proceso con dificultades diagnosticas y tambien terapeuticas. El abordaje transnasal endoscopico es el metodo de eleccion, pero con numerosas variantes posibles. El objeto de este trabajo es hacer una revision critica del protocolo diagnostico y terapeutico que nosotros aplicamos desde hace 11 anos. Material y metodos Treinta y un pacientes intervenidos. El diagnostico se fundamenta en el analisis bioquimico de la rinorrea, la TAC y la RNM. Tratamiento: se realiza mediante cirugia endoscopica tras la inyeccion intratecal preoperatoria de 2 cc de fluoresceina al 5%. …

Abordajes transesfenoidales endoscópicos de los adenomas hipofisarios: una revisión crítica de nuestra experiencia

Resumen Introduccion El abordaje quirurgico de la region hipofisaria ha evolucionado desde las vias transcraneales, a las sublabiales y transseptales microscopicas hasta los abordajes endoscopicos actuales. Objetivos El objetivo de este trabajo es exponer y reflexionar sobre nuestra experiencia en el abordaje transnasal transesfenoidal endoscopico de los tumores hipofisarios, con las modificaciones que hemos introducido para mejorar la exeresis del tumor y disminuir la iatrogenia. Material y metodos A lo largo de 9 anos hemos intervenido a 37 pacientes afectos de adenomas hipofisarios mediante abordaje transesfenoidal endoscopico. Utilizamos lentes de 0 y 30 grados, navegador optico, instru…

Molecular and Clinical Predictors of Quality of Life in Chronic Rhinosinusitis with Nasal Polyps

(1) Background: Factors influencing the quality of life (QoL) of patients with chronic rhinosinusitis with nasal polyposis (CRSwNP) are poorly understood. We set out to determine the predictive factors on patients’ QoL using the Sino-Nasal Outcome Test-22 (SNOT-22); (2) Methods: An ambispective analysis of data from patients diagnosed with CRSwNP in our institution. All the patients underwent a nasal polyp biopsy and completed the SNOT-22 questionnaire. Demographic and molecular data as well as the SNOT-22 scores were collected. Patients were classified in six subgroups considering the presence of asthma, non-steroidal drugs (NSAID) intolerance and corticosteroid resistance; (3) Results: Th…

Crisis epiléptica por neumoencéfalo como primera manifestación de un osteoma etmoido-frontal

LSC Abstract – Oxidative stress in nasal epithelial cells from patients with primary ciliary dyskinesia

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inheritance disorder characterized by dysfunction of respiratory cilia and impaired mucociliary clearance, leading to respiratory problems appearing in childhood, decreased fertility and situs inversus in 50% of the cases. The deficient ciliary movement causes stasis of secretions in the airways leading to recurrent airway infection and chronic inflammation. Rationale and aims: Chronic inflammation has been associated to oxidative stress (OS). Moreover, evidence of increased OS in the airways of stable children with PCD has been shown (Zihlif, N. et al . Pediatr Pulmonol 2006; 41:509-14.). Therefore, we hypothesize t…

Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.

Background: Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnosis difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD. Material and methods: We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high…