Nasal obstruction (NO) is defined as the subjective perception of discomfort or difficulty in the passage of air through the nostrils. It is a common reason for consultation in primary and specialized care and may affect up to 30%-40% of the population. It affects quality of life (especially sleep) and lowers work efficiency. The aim of this document is to agree on how to treat NO, establish a methodology for evaluating and diagnosing it, and define an individualized approach to its treatment. NO can be unilateral or bilateral, intermittent or persistent and may be caused by local or systemic factors, which may be anatomical, inflammatory, neurological, hormonal, functional, environmental, or pharmacological in origin. Directed study of the medical history and physical examination are key for diagnosing the specific cause. NO may be evaluated using subjective assessment tools (visual analog scale, symptom score, standardized questionnaires) or by objective estimation (active anterior rhinomanometry, acoustic rhinometry, peak nasal inspiratory flow). Although there is little correlation between the results, they may be considered complementary and not exclusive. Assessing the impact on quality of life through questionnaires standardized according to the underlying disease is also advisable. NO is treated according to its cause. Treatment is fundamentally pharmacological (topical and/or systemic) when the etiology is inflammatory or functional. Surgery may be necessary when medical treatment fails to complement or improve medical treatment or when other therapeutic approaches are not possible. Combinations of surgical techniques and medical treatment may be necessary.
Nasal mucociliary transport showed a sensitivity of 100% for the diagnosis of PCD but has low specificity. High-resolution DHSV imaging has high sensitivity and specificity for the diagnosis of PCD. Video analysis is probably more useful than the study of mucociliary transport and cilia ultrastructure in screening for PCD. The absence of dynein was correlated with ciliary immotility and was more common in KS patients.
Nasal cytological eosinophilia is a simple, fast, nontraumatic, and inexpensive method in the evaluation of patients with nasal polyposis. Eosinophilic infiltration of the nasal mucosa is characteristic of nasal polyposis. It correlates with the stage of the disease and tends to be higher in patients with asthma, nasal polyposis, and nonsteroidal anti-inflammatory drug intolerance (acetyl-salicylic acid triad).
Cytolysis and PMD are the principal degranulation modes of eosinophils in nasal polyposis-apoptosis being very infrequent. Nasal polyposis shows a correlation between eosinophil degranulation mode and the clinical and radiological stage and the degree of tissue eosinophilia of the case of origin.
Total nasal packing causes significant nocturnal oxygen desaturation. This must be taken into account in the postoperative nasal packing of patients with respiratory failure, obesity, or SDB.
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease with an estimated prevalence of 1:20.000 births. It is characterized by abnormal motility of cilia, leading to impaired mucociliary clearance, and subsequent infection and chronic inflammation of the airways. PCD also affects spermatozoa and cilia in the Fallopian tubes, contributing to fertility issues; dyskinesia of embryonic nodal cilia causes a random distribution of the organs.Areas covered: An overview of the history, genetics, clinical manifestations in children and adults, diagnostic tests, treatments, and prognosis are reviewed. We also discuss current research and future prospects of PCD. Expert opinion:As PCD comprises defects in all organs with motile cilia, patients have a variety of clinical manifestations, often characterized by their presence from birth. Because of the non-specific symptoms, PCD is often confused with other diseases such as cystic fibrosis.There is no gold standard diagnostic test and a variety of diagnostic tests are required, including high-speed video analysis and transmission electron microscopy. Reanalysis following primary cultures of the epithelial cells can help to differentiate primary from secondary defects. Despite being a genetic disease, due to the genetic heterogeneity of PCD, gene analysis can currently only explain 65% of the cases. There is no treatment for PCD, and therapeutic options that contribute to the wellbeing of the patients are based on expert opinion.
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.
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) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.
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