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Researchers at University Hospital conducted a study on the impact of general anesthesia on ciliary functional analysis in children suspected of primary ciliary dyskinesia (PCD). The study involved three patients undergoing ENT surgeries, with samples taken before and during anesthesia to measure ciliary function using digital high-speed videomicroscopy. The findings highlighted variability in respiratory ciliary function under general anesthesia, emphasizing the need for caution when interpreting data. Further research with larger cohorts is needed for validation. [Extracted from the article]

A study conducted by the University of North Carolina School of Medicine compared the quality of life improvements in patients with allergic rhinitis undergoing sublingual immunotherapy (SLIT) versus subcutaneous immunotherapy (SCIT). The research found that both SLIT and SCIT groups showed reductions in Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) scores after 18 months of therapy, indicating similar quality of life benefits between the two treatments. Further investigation is needed to explore long-term quality of life improvements beyond two years. The study excluded patients with certain conditions and recorded demographics, additional therapies, and allergen sensitivities for analysis. [Extracted from the article]

Researchers from the University Hospital of Liege conducted a study on the impact of local anesthesia on ciliary function in nasal epithelium for the diagnosis of Primary Ciliary Dyskinesia (PCD). The study found that lidocaine and naphazoline nasal spray did not significantly affect ciliary beat frequency or pattern compared to saline. This research supports the safe use of these agents in clinical practice for PCD diagnostic procedures, with further validation recommended through larger cohorts. [Extracted from the article]

The article discusses a study on developing an in vitro model for respiratory disease research using human nasal epithelial cells. By applying small-molecule inhibitors, researchers achieved efficient differentiation of cultures containing various cell types. This model offers a cost-effective and scalable platform for studying diseases like primary ciliary dyskinesia, cystic fibrosis, and respiratory syncytial virus infection. The study aims to provide a valuable tool for respiratory disease research by combining the simplicity of traditional cultures with the cellular complexity of the human airway epithelium. [Extracted from the article]

Researchers from Dokkyo Medical University in Tochigi, Japan, conducted a study on two siblings diagnosed with Primary Ciliary Dyskinesia (PCD) who shared an identical genotype but exhibited distinct phenotypes. The 13-year-old girl had acute pneumonia and situs inversus, while her 6-year-old brother had bronchial asthma without situs inversus. Both siblings had a chronic wet cough and were initially diagnosed with bronchial asthma. The study highlighted the importance of genetic analysis in diagnosing PCD and emphasized the need to differentiate it from other respiratory conditions like asthma. [Extracted from the article]

Researchers at Duke University have made new discoveries in the field of Primary Ciliary Dyskinesia, focusing on the impact of non-coding genomic variants on disease development. By utilizing RNA-seq and targeted long-read DNA sequencing, they identified a patient with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele had a non-coding deletion missed by traditional sequencing methods. This study highlights the importance of investigating the non-coding genome in patients with unexplained genetic diseases, showcasing the utility of RNA and long-read DNA sequencing in identifying pathogenic variants. [Extracted from the article]

A recent study conducted at the Technion-Israel Institute of Technology examined the clinical significance of finding Mucor in the airway cultures of immunocompetent patients with chronic lung diseases. The study included 27 patients with conditions such as cystic fibrosis, primary ciliary dyskinesia, and non-CF/non-PCD bronchiectasis. The research found that the presence of Mucor in these patients did not lead to clinical deterioration or invasive fungal disease, and further studies are needed to fully understand the implications of these findings. [Extracted from the article]

A recent study conducted by the University of Washington School of Medicine compared the longitudinal outcomes of children with Primary Ciliary Dyskinesia (PCD) and Cystic Fibrosis (CF). The research found that children with PCD, particularly those with specific ciliary defects, did not exhibit milder lung function abnormalities compared to CF patients. The study highlights the need for new guidelines and treatments to improve outcomes for individuals with PCD. [Extracted from the article]

A recent study conducted by researchers at Sun Yat-sen University in Guangzhou, China, has identified a novel homozygous mutation in the DNAAF3 gene that leads to severe asthenozoospermia and teratospermia. The study involved an infertile Chinese male patient with a history of bronchitis, whose semen analysis revealed these conditions. Whole exome sequencing and CRISPR-Cas9 gene-editing technology were used to confirm the correlation between the DNAAF3 mutation and primary ciliary dyskinesia (PCD) pathogenesis. This research provides new insights into the mechanisms underlying male infertility related to DNAAF3 mutation and PCD. [Extracted from the article]

A recent report from Washington University in St. Louis, Missouri, discusses new research on Primary Ciliary Dyskinesia (PCD), a genetic condition that affects cilia motility. The study used single-cell RNA sequencing, proteomics, and advanced microscopy to compare airway cells from PCD patients, their heterozygous mothers, and healthy individuals. The researchers found unique gene expression signatures in PCD airway cells, as well as increased expression of glutathione-S-transferases (GSTA2 and GSTA1) and NRF2 target genes, accompanied by elevated levels of reactive oxygen species (ROS). These findings suggest a dedicated ciliary GSTA2 pathway that is essential for normal motility and may serve as a therapeutic target. [Extracted from the article]

This document provides information about a clinical trial conducted by Genentech, Inc. The trial, NCT06603246, aims to evaluate the safety and effectiveness of inhaled GDC-6988 in patients with muco-obstructive disease. The trial is set to begin on October 31, 2024, and is expected to be completed by January 15, 2026. The study will assess various outcomes, including adverse events, spirometry abnormalities, plasma concentration of GDC-6988, and changes in sputum percent solids and whole-lung mucociliary clearance. The intervention involves administering GDC-6988 through a dry powder inhaler. The trial is open to individuals with bronchiectasis and chronic obstructive pulmonary disease (COPD), and aims to enroll 128 participants. Eligibility criteria include specific lung function measurements and stable disease status. The document also provides administrative information, such as the study ID number and contact details for further inquiries. [Extracted from the article]

A recent study conducted at Indiana University discusses the use of inhaled medications for maintenance therapy in pediatric noncystic fibrosis bronchiectasis. The study found that several inhaled medications, such as hypertonic saline and inhaled antipseudomonal antibiotics, could be considered as maintenance therapies for these patients. However, the use of inhaled corticosteroids and dornase alfa should be approached with caution. The study emphasizes the need for further research to determine the most effective inhaled therapies for pediatric noncystic fibrosis bronchiectasis. [Extracted from the article]

A clinical trial, NCT06606873, has been launched to study anatomical risk factors for orbital complications in patients with acute rhinosinusitis. Rhinosinusitis is a common condition encountered in primary care clinics. The trial, conducted by Assiut University, aims to identify risk factors such as agger nasi cells, concha bullosa, and septal deviation that may contribute to orbital complications. The trial is currently in the recruitment phase and is expected to be completed by June 2027. [Extracted from the article]

A recent report from Indiana University discusses the relationship between ciliary function and asthma. The research suggests that severe viral lower respiratory illnesses that affect ciliary function may contribute to the development of asthma in children. The report also highlights the role of primary ciliary dyskinesia (PCD), a condition caused by genetic variants that affect the structure and function of motile cilia, in asthma pathogenesis. Additionally, secondary ciliary dysfunction caused by viruses or smoking can also contribute to asthma development. The study emphasizes the importance of understanding antigen stasis on the surface of dysfunctional airway cilia in the pathophysiology of asthma and suggests that specific airway clearance techniques and therapeutic interventions could be valuable in preventing asthma development. [Extracted from the article]

A report from the University of the Witwatersrand in Johannesburg, South Africa, discusses the challenges of diagnosing primary ciliary dyskinesia (PCD) in low- and middle-income settings. PCD is an inherited condition that affects the respiratory tract and impairs mucous clearance. The prevalence of PCD in South Africa is unknown due to difficulties with diagnosis, particularly in a setting with a high prevalence of other infectious diseases. The report recommends creating designated centers of expertise for PCD diagnosis in South Africa to improve accessibility of diagnostic tests and prevent long-term respiratory complications. [Extracted from the article]

Researchers at Pisa University Hospital in Italy have conducted a study on primary ciliary dyskinesia (PCD), a respiratory condition. The study focused on the impact of TAS2R38 haplotypes, which encode the bitter taste receptor, on nasal nitric oxide (nNO) levels and Pseudomonas aeruginosa (P.a.) infections in PCD patients. The researchers found that the TAS2R38 haplotypes can affect nNO levels and may play a role in susceptibility to respiratory infections. They also discovered that TAS2R38 polymorphisms could potentially be used to develop new management strategies to prevent chronic P.a. infections. [Extracted from the article]

A recent study conducted at Oslo University Hospital in Norway found that tracheobronchomalacia (TBM) is common in children with primary ciliary dyskinesia (PCD). TBM is a condition characterized by weak cartilage in the airways, which can lead to respiratory symptoms and complications. The study reviewed the medical records of 71 children with PCD and found that 69% of them had intrathoracic airway malacia, with 22% having TBM specifically. The researchers concluded that TBM may be a significant comorbidity in children with PCD and could impact their management. [Extracted from the article]

A patent application has been submitted for a pharmaceutical composition that uses lipid nanoparticles (LNPs) to deliver therapeutic agents to the lungs. The composition can be administered either systemically or directly to the lungs via the mouth or nose. The patent application provides details on the composition's encapsulation efficiency, mRNA integrity, particle size, and other characteristics. It also discusses the use of LNPs for selective delivery to specific cells in the lungs. The patent application describes a method for delivering LNPs to lung cells in individuals with cystic fibrosis (CF) to increase the expression and function of a protein called CFTR. The method involves nebulizing a liquid pharmaceutical composition to generate an aerosolized pharmaceutical composition, which is then administered to the subject. The LNPs used in the composition contain specific lipids and encapsulate mRNA encoding the CFTR protein. The patent application provides specific details about the composition and characteristics of the LNPs, as well as the administration process. [Extracted from the article]

A recent study conducted by McGill University Health Center in Quebec, Canada, examined the use of lung ultrasound (LU) as an alternative to chest radiography (CXR) for monitoring lung disease in children with primary ciliary dyskinesia (PCD) or cystic fibrosis (CF). The study found that LU showed good correlation with the severity of lung disease in CF, but its correlation with CXR was poor for both diseases. Additionally, LU scores did not correlate with clinical outcomes in PCD. These findings suggest that LU may not be an effective tool for monitoring lung disease in children with PCD or CF. [Extracted from the article]

The article focuses on a study of Kartagener's syndrome within the context of primary ciliary dyskinesia. Topics include the rarity and characteristics of primary ciliary dyskinesia and Kartagener's syndrome, the atypical presentation of bronchiectasis and pectus excavatum in a case study, and the documentation of an association between these conditions.

A new report from the Almazov National Medical Research Centre provides a comprehensive clinical and genetic characterization of 21 Russian families with Primary Ciliary Dyskinesia (PCD). PCD is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The study used gene panel sequencing and transcript analysis to identify and interpret novel genetic variants in PCD patients. The findings shed light on the genetic background of PCD in the Russian population and highlight the utility of these techniques in genetic research. [Extracted from the article]

A recent study conducted by researchers at Ponce Health Sciences University in Puerto Rico evaluated the effectiveness of open-source ciliary analysis software in measuring ciliary beat frequency (CBF) in patients with Primary Ciliary Dyskinesia (PCD). The study compared two software applications, CiliarMove and Cilialyzer, against the manual count method and found that all three methods showed lower median CBF values in PCD patients compared to healthy controls. The researchers concluded that open-source software-based analysis tools are useful in accurately measuring CBF in PCD patients, but further studies are needed to validate these findings with other genetic variants and identify the optimal software for accurate measurement. [Extracted from the article]

According to a preprint abstract, researchers have found that patients with Primary Ciliary Dyskinesia (PCD), a genetic disorder affecting the respiratory and reproductive systems, may also experience sub-clinical ventriculomegaly, or enlargement of the brain's ventricles. The study suggests that this ventriculomegaly may be due to dysfunction of motile cilia in ependymal cells in the brain. However, the correlation between ventriculomegaly and neuropsychiatric/neurological disorders in PCD patients is still unclear and requires further investigation. [Extracted from the article]

A recent preprint abstract discusses the development of a pig model with DNAI1 mutations, which are associated with primary ciliary dyskinesia (PCD). PCD is a condition caused by mutations in various genes that affect the function of motile cilia, leading to impaired mucociliary transport. The study used CRISPR-Cas9 technology to disrupt the DNAI1 gene in pigs, resulting in cilia abnormalities and impaired ciliary beating. The pig model closely resembles the disease phenotype seen in humans with PCD and can be used to further understand the pathophysiology of PCD airway disease. However, it is important to note that this preprint has not yet undergone peer review. [Extracted from the article]

A new report from the Department of Otorhinolaryngology-Head and Neck Surgery presents fresh data on primary ciliary dyskinesia (PCD), a hereditary disease caused by genes related to motile cilia. The report discusses two pediatric cases of PCD caused by loss-of-function variants in the OFD1 gene. Both cases exhibited recurrent respiratory infections but did not show symptoms of oral-facial-digital syndrome type I. The researchers identified a variant that has not been previously reported in any case of OFD1-PCD. This information may be useful for individuals conducting research on genetics, neurology, pediatrics, and respiratory tract diseases and conditions. [Extracted from the article]

A recent study conducted at Peking Union Medical College Hospital in Beijing, China, has explored new genetic diagnostic approaches for patients with Primary Ciliary Dyskinesia (PCD). PCD is a rare disorder characterized by abnormalities in motile cilia, which can affect multiple organs. While clinical exome sequencing has improved the diagnostic rate of PCD, more than 30% of patients still cannot obtain a definitive diagnosis. The researchers aim to assist clinicians in selecting advanced genetic testing technologies to increase the diagnostic rate of PCD and deepen the understanding of its genetic pathogenesis, potentially paving the way for future gene therapy. [Extracted from the article]

The article announces a Phase II clinical trial aimed at evaluating the efficacy and safety of ensifentrine inhalation for non-cystic fibrosis bronchiectasis. Topics discussed include the study's design (randomized, double-blind, placebo-controlled), primary and secondary outcomes (pulmonary exacerbations, symptom severity, and quality of life), and recruitment details.

This article discusses a patent application for an "Airway Clearance System" that aims to improve mucus clearance in the respiratory tract for individuals with conditions such as cystic fibrosis, chronic obstructive pulmonary disease, and asthma. The system utilizes high frequency chest wall oscillations to stimulate mucus and airway clearance, as well as improve blood flow and relieve muscular and nerve tensions. The patent application describes a system that includes a therapy garment, a pulsator with a control panel and touchscreen for programming the therapy, and a mobile app for data collection and communication. The system also offers features such as adjustable display orientation, customizable display brightness, and wireless connectivity. The collected data can be stored on the pulsator, mobile app, or a server, and the mobile app can be used as a remote control for the therapy. The system can also coordinate with other devices to gather health information. Overall, this patent application presents a comprehensive and technologically advanced system for airway clearance therapy. [Extracted from the article]

A patent application has been submitted by inventors Bhattacharjee, Rumpa; Eby, Jackson; Hennig, Mirko; Ishimaru, Daniella; Kharitonov, Vladimir; and Wustman, Bradon, focusing on the delivery of nucleic acids, specifically mRNA, to cells for therapeutic purposes. The invention aims to increase the expression of specific polypeptides in cells to treat diseases or disorders. The patent application discusses the use of lipid compositions to enhance the uptake of nucleic acids and the potential for organ-specific delivery of therapeutic agents. It specifically explores a method for treating lung disorders by administering lipid compositions containing heterologous polynucleotides to subjects through inhalation aerosol droplets, with a focus on treating primary ciliary dyskinesia (PCD) by expressing specific proteins within ciliated cells. The patent application provides detailed information on the lipid composition and its components, as well as the concentration and characteristics of the polynucleotide in the aerosol droplets. [Extracted from the article]

A study conducted by researchers at Fujian Medical University investigated the use of whole exome sequencing (WES) for prenatal diagnosis of dextrocardia, a condition where the heart is located on the right side of the chest instead of the left. The study collected data from 29 fetuses with dextrocardia, and found that 93.1% had situs inversus totalis, a condition where the internal organs are mirrored from their normal positions. Cardiac and extra-cardiac anomalies were present in many cases, and clinically relevant genetic variants were identified in 33.3% of cases that underwent WES. The study concluded that WES can improve the diagnostic utility of genetic variants in fetal dextrocardia and guide perinatal management and reproductive decisions. [Extracted from the article]

Electromed Inc. has been granted a patent for a body pulsating apparatus and method that aims to improve bronchial drainage and promote airway clearance in humans. The device consists of an air pulse generator with programmable controls, an air inflatable thoracic garment, and a flexible hose to transmit air pressure and pulses to the garment. It utilizes high-frequency thoracic wall oscillations to dislodge mucus from the respiratory tract, making it particularly beneficial for individuals with conditions such as cystic fibrosis, chronic obstructive pulmonary disease, and neuromuscular conditions. The full patent can be accessed using the provided URL. [Extracted from the article]

A recent study conducted at University Hospital Muenster in Germany has found that disease-causing variants in CCDC39 and CCDC40 are common causes of primary ciliary dyskinesia (PCD), a hereditary disorder. These variants affect the proteins that form a molecular ruler complex, which is essential for maintaining the structure of ciliary axonemes. The study identified 51 individuals with these variants and demonstrated that certain components of the axonemes, known as inner dynein arm heavy chains, were absent. These findings contribute to the understanding of PCD and improve diagnostic methods for axonemal ruler defects. [Extracted from the article]

A recent study conducted by researchers at Kuwait University focused on primary ciliary dyskinesia (PCD), a condition caused by the dysfunction of motile cilia in the lungs. The study aimed to identify novel PCD variants and determine their pathogenicity in PCD patients in Kuwait. The researchers analyzed genomic DNAs from five PCD individuals and found that they carried novel pathogenic variants of DNAH5, which are associated with PCD and variable pulmonary clinical manifestations in Arabic families. This research provides valuable insights into the genetic and clinical spectra of PCD in the Arab population. [Extracted from the article]

A recent study conducted in Wardha, India, explores the clinical implications and management of Kartagener's Syndrome, also known as Primary Ciliary Dyskinesia (PCD). This rare genetic disorder affects the structure and function of cilia, leading to compromised mucociliary clearance. The study highlights the challenges in diagnosing and managing the syndrome, as well as the impact it has on individuals' lives. It emphasizes the importance of early recognition and proactive management to improve outcomes and quality of life for those with Kartagener's Syndrome. The study also includes case studies that provide valuable insights into the diverse manifestations of the syndrome. [Extracted from the article]

Researchers from the University of Foggia have presented data on primary ciliary dyskinesia, specifically focusing on Kartagener's Syndrome. This rare genetic condition affects the structure and function of cilia and is associated with situs inversus, chronic sinusitis, and bronchiectasis. The researchers highlight the importance of considering situs inversus in clinical practice, particularly when interpreting imaging studies and planning medical interventions. They also emphasize the need to carefully examine cardiovascular and pulmonary pathologies associated with situs inversus. [Extracted from the article]

A recent report discusses research findings on primary ciliary dyskinesia (PCD), a disease caused by dysfunction of motile cilia. The study focuses on the Odad3 gene and its role in spermatozoa development and male fertility in mice. The researchers found that knockout of the Odad3 gene in mice replicated several features of PCD, including hydrocephalus, defects in body symmetry, and male infertility. They also discovered that even partial ablation of the Odad3 gene led to abnormalities in sperm flagella and defects in spermatogenesis. These findings highlight the importance of the Odad3 gene in male fertility and may have implications for genetic and fertility counseling for PCD patients with Odad3 loss-of-function mutations. [Extracted from the article]

Researchers from Poznan University of Medical Sciences in Poland have developed and validated Polish-language questionnaires to assess the quality of life of patients with Primary Ciliary Dyskinesia (PCD). The questionnaires were translated and discussed with the creator of the original English-language questionnaire. The internal consistency and test-retest reliability of the questionnaires were found to be good, and Polish PCD patients rated their quality of life quite well. The researchers suggest that these questionnaires can be used routinely during medical check-ups to assess the effectiveness of treatment and the impact of the disease on patients' quality of life. [Extracted from the article]

A patent application titled "Hot Porous-Solid Metering Systems And Methods For Generation Of Therapeutic Aerosols By Evaporation/Condensation" has been published online. The inventors, Anthony James Hickey and Ian Edward Stewart, have developed an aerosol generation device that includes a porous heatable substrate and a composition containing a vaporizable carrier compound and at least one therapeutic agent. When the substrate is heated, the carrier compound vaporizes, releasing the therapeutic agent, and upon cooling, the carrier condenses around the therapeutic agent to form an aerosol. This device has potential applications in pulmonary drug delivery systems, including for the treatment of diseases such as asthma, lung cancer, and cystic fibrosis. [Extracted from the article]

A recent report from the University of North Carolina (UNC) School of Medicine provides an overview of primary ciliary dyskinesia (PCD), a rare genetic disorder characterized by respiratory distress, recurrent infections, subfertility, and laterality defects. The diagnosis of PCD relies on a combination of tests, including nasal nitric oxide measurements, high-speed videomicroscopy analysis, immunofluorescent staining, electron microscopy, and genetic testing. The report highlights the complexity of PCD, with 54 causative genes identified and a range of clinical manifestations. It also discusses emerging diagnostic tools and updates on genotype-phenotype relationships in PCD. [Extracted from the article]

ReCode Therapeutics, a genetic medicines company, has published a research article in Science highlighting the potential of their Selective Organ Targeting (SORT) lipid nanoparticles (LNPs) for gene correction in lung stem cells. The study showed that LNPs carrying gene editing tools can effectively correct a gene in lung stem cells when administered intravenously. This approach achieved over 70% editing efficiency in mouse lung stem cells and sustained the effect for up to 660 days. The technique also demonstrated proof of concept for correcting the CF mutation CFTR R553X, offering potential for a new treatment for cystic fibrosis. ReCode Therapeutics aims to translate this research into durable and potentially curative therapies for patients with genetic lung disorders. [Extracted from the article]

A recent report from the University of British Columbia discusses the case of a mother-daughter pair with chronic rhinosinusitis (CRS) that is refractory to medical management. The researchers found that the patients had features consistent with cystic fibrosis (CF), primary immunodeficiency (PID), and primary ciliary dyskinesia (PCD). These conditions are rare and are thought to cause CRS in isolation. The study suggests that patients with refractory CRS should be further evaluated to identify alternative diagnoses and ensure proper management. [Extracted from the article]

A report from Amsterdam University Medical Center discusses the challenges of detecting pulmonary exacerbations in disorders of mucociliary clearance, such as cystic fibrosis and bronchiectasis. The researchers conducted a systematic review of existing literature on breath analysis as a potential non-invasive method for detection. They found that while there is a correlation between pulmonary exacerbations and certain compounds in exhaled breath, further research is needed to validate these results and establish a standardized definition of an exacerbation. The study emphasizes the need for larger, longitudinal studies to advance the clinical application of breath analysis in detecting pulmonary exacerbations. [Extracted from the article]

Researchers at the University of Iowa have made progress in understanding the diagnosis and treatment of rare and diffuse lung diseases in children. The study highlights the challenges of studying these conditions due to their rarity and complexity. The researchers emphasize the importance of multicenter cooperation and patient registries in advancing knowledge and treatment options. The review aims to increase awareness and inspire future research in this field. [Extracted from the article]

A recent report from the University of Florida discusses the limited research on the causes of asthenozoospermia, a condition characterized by reduced sperm motility. The researchers present a case study of a 36-year-old male who experienced a recovery in sperm motility after the resolution of chronic respiratory infections. This case highlights the potential role of environmental risk factors, such as infections, in infertility. The findings suggest that clinicians should consider these factors when treating patients with asthenozoospermia. [Extracted from the article]

A recent study conducted at Bambino Gesu Children's Hospital in Rome, Italy, has provided new insights into primary ciliary dyskinesia (PCD), a rare condition that can cause chronic rhinosinusitis with nasal polyposis (CRSwNP). The study identified a novel mutation in the GAS8 gene that is associated with CRSwNP in a case of PCD. The researchers recommend a multidisciplinary approach to treating children with CRSwNP, involving specialists from various fields such as ENT, pulmonology, allergy, pathology, pediatrics, and genetics. This research contributes to a better understanding of PCD and its associated conditions. [Extracted from the article]

A clinical trial, NCT06435273, is being conducted to investigate the effects of AZD4604 on airway inflammation and JAK1-associated signaling pathways in adults with moderate-to-severe asthma. The trial will last approximately 10 weeks for each participant, with the administration of the investigational medicinal product (IMP) lasting about 4 weeks. It is a multicenter, randomized, placebo-controlled, double-blind study that will recruit patients receiving treatment with medium-to-high dose inhaled corticosteroid-long-acting beta-agonist (ICS-LABA). The study aims to evaluate the impact of AZD4604 compared to placebo on various outcomes related to airway inflammation and biomarkers. The eligibility criteria for participants include having a documented history of asthma, being treated with specific medications, and meeting certain health requirements. Exclusion criteria include recent severe asthma exacerbations, certain medical conditions, and use of certain medications. The study is being conducted in Canada, Denmark, Germany, Spain, and the United Kingdom and is sponsored by AstraZeneca, with a data monitoring committee overseeing the study. Administrative information about the study is also provided. [Extracted from the article]

This article discusses the development and initial characterization of pigs with DNAI1 mutations and primary ciliary dyskinesia (PCD). PCD is caused by mutations in over 50 genes that disrupt the activity of motile cilia, leading to impaired mucociliary transport. Despite advancements in understanding the disease, effective treatments are still lacking. The researchers used CRISPR-Cas9 to create a PCD pig model with a disrupted DNAI1 gene, which closely mimicked the disease phenotype seen in humans. This model can be used to further study the pathophysiology of PCD airway disease. [Extracted from the article]

A preprint abstract from biorxiv.org discusses the role of Cyclin O (CCNO) in the differentiation of multiciliated cells (MCC), which are responsible for fluid circulation in various organs. The study shows that CCNO is activated during a specific temporal window, playing a crucial role in the entry into the MCC cell cycle variant and the activation of centriole biogenesis. The absence of CCNO leads to a block in MCC progenitor differentiation, resulting in a lack of centrioles and cilia. This research provides insights into the regulation of MCC differentiation and the development of a subtype of Primary Ciliary Dyskinesia (PCD). [Extracted from the article]

A recent study conducted by researchers at Shanghai Jiao Tong University School of Medicine focused on primary ciliary dyskinesia (PCD), a rare disease caused by abnormalities in motile cilia. The study analyzed the clinical and genetic data of a patient suspected of having PCD and identified a novel homozygous variant in the RSPH4A gene. The patient exhibited symptoms such as hearing loss, otitis media, anosmia, sinusitis, recurrent cough, and infertility. The study also reviewed existing literature on gene variants in PCD related to hearing loss and the clinical manifestations of the RSPH4A variant. The research concluded that 16 pathogenic variants in RSPH4A have been reported, with hearing loss observed only in patients with a specific splice site mutation. [Extracted from the article]

A new study from Royal Brompton and Harefield Hospitals in London, United Kingdom, addresses the underdiagnosis of Primary Ciliary Dyskinesia (PCD), a disorder of the motile cilia that is often misdiagnosed as bronchiectasis. The study focuses on the gene HYDIN, which is often not included in diagnostic PCD gene panels due to the presence of a pseudogene called HYDIN2. The researchers used a combined approach of short-read next-generation sequencing (SR-NGS) with bioinformatic masking of HYDIN2, as well as long-read Nanopore sequencing (LR_NGS), to detect biallelic HYDIN variants in PCD cases. This study highlights the underdiagnosis of HYDIN-associated PCD and demonstrates the utility of LR-NGS in diagnostic testing. [Extracted from the article]