Why is "Primary ciliary dyskinesia" trending?
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- Date: 2026-03-09 18:43:34
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Wikipedia Overview
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome.
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Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia - Nature
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Respirology Case Reports | APSR Respiratory Medicine Journal - Wiley Online Library
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Limitations of PICADAR as a diagnostic predictive tool for primary ciliary dyskinesia - Frontiers
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Impact of Seasonal Variability in Nasal Nitric Oxide Measurements for Primary Ciliary Dyskinesia Screening - Sage Journals
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Dynein Axonemal Heavy Chain 10 Deficiency Causes Primary Ciliary Dyskinesia in Humans and Mice | Newswise - Newswise
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JOE DIMAGGIO CHILDREN’S HOSPITAL RECOGNIZED AS FIRST PCD FOUNDATION CLINICAL CENTER IN SOUTH FLORIDA - Florida Hospital News and Healthcare Report
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Pseudomonas Reinfection in a Patient With Primary Ciliary Dyskinesia: How a Toothbrush Could Make You Sick - Cureus
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Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD) - Wiley Online Library
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Primary ciliary dyskinesia: a big data genomics approach - The Lancet
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Researchers Release Results from Clinical Trial for Treatment of Primary Ciliary Dyskinesia - UNC Health
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Primary Ciliary Dyskinesia Twice as Prevalent as Previously Estimated - respiratory-therapy.com
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VUMC accredited for primary ciliary dyskinesia care - Vanderbilt Health News
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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies - Frontiers
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Primary ciliary dyskinesia in the genomics age - The Lancet
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Transmission electron microscopy study of suspected primary ciliary dyskinesia patients - Nature
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New ATS Guideline for Diagnosing Primary Ciliary Dyskinesia - respiratory-therapy.com
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Recognizing clinical features of primary ciliary dyskinesia in the perinatal period - Nature
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Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss‐of‐Function Variants in Oral‐Facial‐Digital Syndrome Gene, OFD1 - Xu - 2024 - Case Reports in Genetics - Wiley Online Library
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Primary ciliary dyskinesia treatment: time for a new approach? - The Lancet
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Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects - Nature
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Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review - Frontiers
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Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil - Nature
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Primary Ciliary Dyskinesia: Practical Pearls for Diagnosis - Pulmonology Advisor
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Primary ciliary dyskinesia diagnosis and management and its implications in America: a mini review - Frontiers
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Azithromycin promotes proliferation, and inhibits inflammation in nasal epithelial cells in primary ciliary dyskinesia - Nature
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‘Undeniable Link’ Between Primary Ciliary Dyskinesia and Asthma in Kids - respiratory-therapy.com
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Mayo Clinic receives first-of-its-kind accreditation for diagnosis of primary ciliary dyskinesia - Mayo Clinic News Network
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Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia - Science | AAAS
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Delayed Diagnosis of Primary Ciliary Dyskinesia in Low-Middle-Income Countries: The Clinical Value of Nasal Nitric Oxide - Cureus
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Asthma Is a Significant Comorbidity in Children With Primary Ciliary Dyskinesia - EMJ
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Diagnosing Primary Ciliary Dyskinesia Using High-Speed Video Microscopy - Pulmonology Advisor
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Primary ciliary dyskinesia: additional diagnosis in a patient with cardiospondylocarpofacial syndrome - Anales de Pediatría
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Connecticut’s Only Primary Ciliary Dyskinesia Center Launches - UConn Today
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Study: Treatment with Long-term Antibiotics Could Help People with Primary Ciliary Dyskinesia - respiratory-therapy.com
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Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis | Journal of Human Genetics - Nature
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A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea - Nature
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Pediatric Primary Ciliary Dyskinesia Center Offers Hope to Children With Rare Lung Disease - NewYork-Presbyterian
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Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia - Wiley Online Library
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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia | European Journal of Human Genetics - Nature
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Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines - Nature
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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation - Neurology® Journals
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Respirology Case Reports | APSR Respiratory Medicine Journal - Wiley Online Library
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Genetic lung disease’s molecular roots identified - WashU Medicine
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Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families - Frontiers
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ReCode begins subject dosing in primary ciliary dyskinesia therapy - Clinical Trials Arena
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Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families - Frontiers
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Primary Ciliary Dyskinesia: Azithromycin Reduced Exacerbations - respiratory-therapy.com
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Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis - Frontiers
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CHOC recognized for expertise in treatment, care of primary ciliary dyskinesia - CHOC Inside
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Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants - Wiley Online Library
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Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula - Frontiers
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Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations - Nature
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Mucolytic treatment of chronic rhinosinusitis in a murine model of primary ciliary dyskinesia - Frontiers
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ReCode doses first subject in Phase I primary ciliary dyskinesia trial - Clinical Trials Arena
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Deep learning for the screening of primary ciliary dyskinesia based on cranial computed tomography - Frontiers
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Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia - Nature
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Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial - The Lancet
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CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease - Nature
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Neuropsychiatric Problems in Primary Ciliary Dyskinesia? First, Go to Sleep - EMJ
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Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia - Cureus
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FDA Grants Orphan Drug Designation to RCT1100 For Primary Ciliary Dyskinesia - Pharmacy Times
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Azithromycin for primary ciliary dyskinesia: a milestone - The Lancet
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 - Nature
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Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia - Frontiers
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Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype - Nature
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Airway inflammation linked to impaired lung function in primary ciliary dyskinesia - Healio
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AIIMS scientists develop new method to diagnose Primary Ciliary Dyskinesia with 640x greater precision - ET HealthWorld
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Idrevloride in Hypertonic Saline Boosts Lung Function in Primary Ciliary Dyskinesia Patients - respiratory-therapy.com
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Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis - Nature
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Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia | Journal of Human Genetics - Nature
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Picking up speed: advances in the genetics of primary ciliary dyskinesia - Nature
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Skeletal Muscle Metabolism in Cystic Fibrosis and Primary Ciliary Dyskinesia - Nature
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Get involved in a new network for primary ciliary dyskinesia and help improve diagnosis and care - European Lung Foundation
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Idrevloride in hypertonic saline improves lung function in primary ciliary dyskinesia - Healio
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Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico - Cureus
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Primary ciliary dyskinesia and fungal infections: Two cases of allergic bronchopulmonary aspergillosis in children - Wiley Online Library
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Primary Ciliary Dyskinesia: Practical Pearls for Diagnosis - Clinical Advisor
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Primary Ciliary Dyskinesia Genetics - News-Medical
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Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia - Nature
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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome - Nature
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A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report - Frontiers
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Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia - Dove Medical Press
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O’Connor named medical director of the Primary Ciliary Dyskinesia Foundation Registry - Vanderbilt Health News
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Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population - Nature
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Using Tomography for Primary Ciliary Dyskinesia - AZoM
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Genetic analysis explains rare disease severity, points to possible treatment - WashU
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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients - Nature
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Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis - Wiley Online Library
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms - Nature
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Families Raise Awareness of Rare, Underdiagnosed Lung Disease - Seattle Children's
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Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia - Frontiers
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‘Failed motors’ may cause rare lung disease - futurity.org
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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia - ERS - European Respiratory Society
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Tracheobronchomalacia is common in children with primary ciliary dyskinesia—A case note review - Wiley Online Library
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Rare disease day: PCD looks like cystic fibrosis, but isn’t - Healthier, Happy Lives Blog
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Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population - Frontiers
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Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia - Nature
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The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings - Cureus
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AIIMS Delhi develops India's first TEM-based Primary Ciliary Dyskinesia diagnostic tool - Medical Dialogues
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Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report - Frontiers
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