TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia.

Several chronic respiratory diseases could be risk factors for acquiring SARS-CoV-2 infection: among them, Primary Ciliary Dyskinesia (PCD) is a rare (about 1:10.000) inherited ciliopathy (MIM 242650) characterized by recurrent upper and lower respiratory tract infections due to a dysfunction of the respiratory cilia. In this study, we aimed to investigate whether PCD subjects are more susceptible to infection by SARS-CoV-2 and whether some polymorphisms of the bitter taste receptor correlate with an increased prevalence of SARS-CoV-2 infection and severity of symptoms.

Sudden Sensorineural Hearing Loss in Patients Aged from 15 to 40 Years.

The purpose of this study was to investigate the hearing characteristics and causes of sudden sensorineural hearing loss (SSNHL) in patients aged from 15 to 40 years, focusing on audiological outcomes one year after the diagnosis. The medical records of individuals with SSNHL who were referred to our tertiary-level audiologic center were reviewed. All patients had undergone comprehensive diagnostic evaluations, including high-resolution 3D-FLAIR delayed magnetic resonance imaging (MRI), cone beam computed tomography (CBCT), and screening for coagulation, infectious, and autoimmune diseases.

The Bittersweet Symphony of COVID-19: Associations between and Genetic Variations and COVID-19 Symptoms.

The innate immune system is crucial in fighting SARS-CoV-2 infection, which is responsible for coronavirus disease 2019 (COVID-19). Therefore, deepening our understanding of the underlying immune response mechanisms is fundamental for the development of novel therapeutic strategies. The role of extra-oral bitter (TAS2Rs) and sweet (TAS1Rs) taste receptors in immune response regulation has yet to be fully understood.

Sudden hearing loss and early hyperbaric oxygen therapy: A preliminary study.

Purpose: Sudden sensorineural hearing loss (SSNHL) is a time-sensitive urgent condition. The aim of this study was to evaluate the frequency of hearing improvement in patients with idiopathic SSNHL who only received hyperbaric oxygen (HBO2) therapy within three days of symptom onset, instead of conventional corticosteroid treatment.

Methods: The medical charts of patients who experienced SSNHL between January 1, 2012, and December 31, 2021, were reviewed.

Hearing outcomes in children with congenital cytomegalovirus infection: From management controversies to lack of parents' knowledge.

Objectives: Congenital cytomegalovirus (cCMV) is the leading nongenetic cause of sensorineural hearing loss (HL). However, there are no universally accepted approaches to diagnosis, follow-up and treatment. The aim of this study was to evaluate the main characteristics of cCMV-infected children, focusing on their management and long-term hearing outcomes.

Audiological and vestibular symptoms following SARS-CoV-2 infection and COVID-19 vaccination in children aged 5-11 years.

Purpose: The present study assessed the prevalence of audio-vestibular symptoms following SARS-COV-2 infection or COVID-19 vaccination among children, comparing the two groups. A further aim was to evaluate whether children with pre-existing unilateral hearing loss were more prone to adverse events.

Materials And Methods: This retrospective study included children aged 5-11 years with normal hearing or a proven history of unilateral hearing loss who contracted SARS-CoV-2 or received two doses of COVID-19 vaccine.

Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.

Objectives: Chronic rhinosinusitis (CRS) is a major hallmark of primary ciliary dyskinesia (PCD). We investigated the possible correlation between some severity markers of CRS and several clinical features of the disease. We further studied the bitter taste receptor TAS2R38 polymorphisms to identify the genotypes associated with more severe disease.

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.

Background: Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved in axonemal assembly.

Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity.

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to recurrent respiratory infections of upper and lower airways. Chronic rhinosinusitis (CRS) and bronchiectasis are very common in PCD patients. Recently, it has been shown the presence of taste receptors in respiratory tract and the possible involvement of bitter taste receptor TAS2R38 gene in susceptibility to respiratory infections and rhinosinusitis.

Cilia and Ear.

Objective: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood.

Methods: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation.

Pulmonary dysfunction in thalassaemia major: is there any relationship with body iron stores?

Although pulmonary function abnormalities in thalassaemia major (TM) were described in 1980, the pathogenetic mechanism is not clear and data are contradictory, probably because of study heterogeneity and the multifactorial nature of the pathogenesis. We retrospectively analysed 73 adult TM patients to evaluate the prevalence of pulmonary dysfunction in adult TM and investigate relationships with iron load. All patients underwent body plethysmography and carbon monoxide diffusion (DLCO) was assessed in 63, in addition to blood tests, echocardiogram and T2* myocardial and liver magnetic resonance imaging.

Body plethysmographic study of specific airway resistance in a sample of healthy adults.

Background And Objective: sRaw (specific airway resistance) is a corrected index (Raw multiplied by thoracic gas volume) that describes airway behaviour regardless of lung volume. Normal values of sRaw in adult subjects have never been formally defined. To establish sRaw interpretation criteria and to define a range of reference values, we evaluated variability, reproducibility and reliability of sRaw measurements in a group of healthy adults.

Chlamydophila pneumoniae induces a sustained airway hyperresponsiveness and inflammation in mice.

Background: It has been reported that Chlamydophila (C.) pneumoniae is involved in the initiation and promotion of asthma and chronic obstructive pulmonary diseases (COPD). Surprisingly, the effect of C.

Effects of long-term nasal continuous positive airway pressure therapy on morphology, function, and mucociliary clearance of nasal epithelium in patients with obstructive sleep apnea syndrome.

Objectives/hypothesis: The objective was to investigate the possible modification of nasal mucosa function and mucociliary clearance in a group of patients with severe obstructive sleep apnea syndrome receiving mechanical ventilation with long-term nasal continuous positive airway pressure (n-CPAP), without nasal diseases.

Study Design: The study design was experimental. Eight (six male and two female) nonsmoker patients were selected on the basis of two sleep questionnaires, were identified as needing n-CPAP therapy, and showed normal values of mucociliary transport time, ciliary beat frequency, and anterior rhinomanometry.