A5091179962- Cystic Fibrosis Research Advances
- Sinusitis and nasal conditions
- Tracheal and airway disorders
- Allergic Rhinitis and Sensitization
- Nasal Surgery and Airway Studies
- Head and Neck Surgical Oncology
- Pediatric health and respiratory diseases
- Genetic and Kidney Cyst Diseases
- Oral and Maxillofacial Pathology
- Neonatal Respiratory Health Research
- Salivary Gland Tumors Diagnosis and Treatment
- Infectious Diseases and Mycology
- Bone Tumor Diagnosis and Treatments
- Ear Surgery and Otitis Media
- Dysphagia Assessment and Management
- Infectious Diseases and Tuberculosis
- Asthma and respiratory diseases
- Soft tissue tumor case studies
- Congenital Ear and Nasal Anomalies
- Cerebral Venous Sinus Thrombosis
- Peripheral Nerve Disorders
- Head and Neck Cancer Studies
- Facial Nerve Paralysis Treatment and Research
- Vascular Malformations and Hemangiomas
- Voice and Speech Disorders
Universitat de València
2011-2024
Hospital Universitari i Politècnic La Fe
2017-2024
Instituto de Investigación Sanitaria La Fe
2020-2024
Centro de Investigación Biomédica en Red
2021-2024
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias
2019-2024
Centre for Biomedical Network Research on Rare Diseases
2023
Instituto de Salud Carlos III
2019-2022
Ministerio de Ciencia, Innovación y Universidades
2020-2022
Leitat Technological Center
2021
Hospital General Universitario De Valencia
2005-2015
Abstract Background Despite appropriate treatment, mortality of acute invasive fungal rhinosinusitis remains exceedingly high, surpassing 50%. Evidence on how to optimize its management is still limited. We present a case series from our institution aiming fill the knowledge gap. Methods A retrospective descriptive study was conducted, selecting cases treated at between January 2012 and 2022. The following variables were analyzed: gender, age, underlying conditions, symptoms, histological...
Primary ciliary dyskinesia (PCD) is a clinically uniform entity, although cilia motility and structure can vary among patients, making diagnosis difficult. Chronic sinusitis, bronchiectasis, sinus hypoplasia, secretory otitis media, low fertility are common in PCD patients. The aim of this work was to correlate nasal activity with clinical structural abnormalities PCD. A secondary evaluate the usefulness high-resolution digital high-speed video (DHSV) PCD.We analyzed mucociliary transport...
Background Sinonasal symptoms are a common feature of primary ciliary dyskinesia (PCD); however, literature about their severity and frequency, particularly during the life course, is scarce. Using baseline data from Ear, nose throat (ENT) Prospective International Cohort PCD patients, we describe sinonasal disease in PCD. Methods We included participants who had routine examination which they completed questionnaire. compared frequency reported findings among children adults, identified...
Eosinophils are possibly the most important inflammatory cells in pathogenesis of rhinosinusitis with nasal polyposis. Eosinophil degranulation is mechanism by which these exert their action. Knowledge eosinophil state and mode therefore may help us to better understand this disease. A study made using transmission electron microscopy (TEM), attempting establish correlations certain clinical variables considered be importance patients polyposis.A prospective TEM was examine 582 eosinophils...
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) a custom panel that included 59 genes associated HL HL. Variants were prioritized according to the minimum allele frequency and classified American College Medical Genetics Genomics guidelines. Variant(s) responsible for disease detected in 40% including autosomal...
Introduction Nearly all patients with primary ciliary dyskinesia (PCD) report ear–nose–throat (ENT) symptoms. However, scarce evidence exists about how ENT symptoms relate to pulmonary disease in PCD. We explored possible associations between upper and lower respiratory among PCD a multicentre study. Methods included from the Prospective International Cohort (EPIC-PCD). studied of several reported chronic rhinosinusitis (defined using patient-reported information examination findings) sputum...
Background Nasal obstruction is considered a risk factor for sleep-disordered breathing (SDB), although the relationship has not been established clearly. This study explores repercussion of total nasal packing on arterial oxygen saturation during nocturnal resting hours and its implication in SDB. Methods Forty patients were subjected to after surgery or epistaxis. In all cases desaturation index (ODI) was monitored with without packs, results compared. Results Thirty-seven (92.5%) showed...
Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a clinical entity specific features that impacts significantly on patient quality of life (QoL). CRSwNP often associated asthma and difficult to control manage despite pharmacological and/or surgical treatment. Omalizumab, monoclonal anti-IgE antibody, has emerged as putative therapeutic option. Objective To evaluate the effects omalizumab polyp (NP) size QoL assessed by Sino-Nasal Outcome Test-22 (SNOT-22) in patients...
Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little known about its spectrum and severity.
Eosinophils are possibly the most important inflammatory cells in pathogenesis of chronic rhinosinusitis with nasal polyposis. Eosinophilic mucosal infiltration is characteristic The aim this work was to study possibility correlations between cytological and tissue eosinophilia patients polyposis stage disease. If correlation exists, cytology will be very useful diagnosis management polyposis.We studied 40 affected idiopathic 12 normal group controls. Qualitative measurements eosinophils...
Primary ciliary dyskinesia (PCD) is a rare disease resulting from defect in function that generates, among other issues, chronic upper and lower respiratory tract infections. European guidelines recommend studying (pattern (CBP) frequency (CBF)), together with characteristic clinical symptoms, as one of the definitive tests. However, there no “gold standard”. The present study aims to use high-speed video microscopy describe how CBF CBP alter over time at different temperatures reduce error...
Objective To review the results of a series patients with glottic insufficiency caused by scarred vocal folds who underwent injection laryngoplasty centrifuged and emulsified autologous fat. Study Design Prospective cohort. Setting Single center, tertiary institution. Subjects Methods Examination medical records 21 operated on through fat grafts for treatment dysphonia was performed. All were between January 2015 September 2019. The voice variables measured GRABS (Grade, Roughness,...
Abstract Streptococcus constellatus pharyngis is a gram-positive commensal bacterium commonly found in the oropharynx, gastrointestinal and urogenital tracts. It might be an aggressive opportunistic pathogen causing invasive pyogenic infections sterile areas, mostly as peritonsillar orofacial abscesses. We report case of 6-year-old girl, who presented multiple head neck abscesses bilateral cavernous sinus thrombosis secondary to . Cavernous thrombosis, consequent this microorganism, has not...
Background Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in dyskinesia defined, there is no definition ear-nose-throat exacerbations, a potential outcome research clinical trials. Methods We set up an expert panel 24 specialists, respiratory physicians, other healthcare professionals patients to develop consensus definitions sinonasal otological children adults settings. reviewed literature...
Abstract The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not reported -caused retinal disease. In this study, we performed exome sequencing probands eight unrelated families from Italy, Spain, Palestine, Switzerland, and Greece. All subjects had a clinical...
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 absence of outer inner dynein arms 57% cases. Also reported are 14% patients with short arms. A total 29% showed normal Mucociliary stasis observed 13 Primary dyskinesia clinically homogeneous morphologically heterogeneous. The authors conclude that typical clinical presentation an altered...
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease with an estimated prevalence of 1:20.000 births. It characterized by abnormal motility cilia, leading to impaired mucociliary clearance, and subsequent infection chronic inflammation the airways. PCD also affects spermatozoa cilia in Fallopian tubes, contributing fertility issues; embryonic nodal causes random distribution organs.Areas covered: An overview history, genetics, clinical manifestations children adults,...
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by alteration of structure. Immunofluorescence, consisting in the detection presence and distribution cilia proteins human respiratory cells fluorescence, has been recently proposed as a technique to improve understanding disease-causing genes diagnosis rate PCD. The objective this study determine accuracy panel four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 RSPH4A or RSPH9) PCD diagnostic tool absence...
Abstract A case of mpox pharyngitis in absence cutaneous lesions is reported. Usually, clinical presentation either a eruption or combination and mucosal lesions. In patients with atypical pharyngitis, regardless the presence skin lesions, pharyngeal swabs should be collected to rule out mpox.
Several studies have shown the importance of oxidative stress (OS) in respiratory disease pathogenesis. It has been reported that nasal epithelium may act as a surrogate for bronchial several diseases involving OS. However, sample yields obtained from biopsies are modest, limiting number parameters can be determined. Flow cytometry widely used to evaluate cellular OS profiles. advantage analyses performed using small amount sample. Therefore, we aimed set up new method based on flow assess...