keyword
https://read.qxmd.com/read/38537559/practical-guide-for-the-diagnosis-and-management-of-primary-ciliary-dyskinesia
#1
REVIEW
Kazuhiko Takeuchi, Miki Abo, Hiroshi Date, Shimpei Gotoh, Atsushi Kamijo, Takeshi Kaneko, Naoto Keicho, Satoru Kodama, Goro Koinuma, Mitsuko Kondo, Sawako Masuda, Eri Mori, Kozo Morimoto, Mizuho Nagao, Atsuko Nakano, Kaname Nakatani, Naoya Nishida, Tomoki Nishikido, Hirotatsu Ohara, Yosuke Okinaka, Hiroshi Sakaida, Koji Shiraishi, Isao Suzaki, Ichiro Tojima, Yasuhiro Tsunemi, Keigo Kainuma, Nobuo Ota, Sachio Takeno, Shigeharu Fujieda
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a relatively rare genetic disorder that affects approximately 1 in 20,000 people. Approximately 50 genes are currently known to cause PCD. In light of differences in causative genes and the medical system in Japan compared with other countries, a practical guide was needed for the diagnosis and management of Japanese PCD patients. METHODS: An ad hoc academic committee was organized under the Japanese Rhinologic Society to produce a practical guide, with participation by committee members from several academic societies in Japan...
March 26, 2024: Auris, Nasus, Larynx
https://read.qxmd.com/read/38534367/primary-ciliary-dyskinesia-and-retinitis-pigmentosa-novel-rpgr-variant-and-possible-modifier-gene
#2
JOURNAL ARTICLE
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples...
March 16, 2024: Cells
https://read.qxmd.com/read/38527512/-primary-ciliary-dyskinesia-caused-by-mutation-of-ccno29-gene-in-a-family-report
#3
JOURNAL ARTICLE
X P Sun, J X Xu, S Z Wu, H Y Zhu, H Liu, Z Y Liu, S Yang, C Y Lu, D H Chen
No abstract text is available yet for this article.
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38521969/cystic-lung-changes-bronchiectasis-and-a-heterozygous-primary-ciliary-dyskinesia-associated-variant-in-the-dnah5-gene-a-diagnostic-challenge
#4
JOURNAL ARTICLE
Manal Albalawi, Abdullah Al-Shamrani, Ahmed Sarar Mohamed, Sarar Mohamed
BACKGROUND Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease that can present at different ages with different phenotypes. Missed and delayed diagnoses are fairly common. Many variants in the DNAH5 gene have been described that confirm the diagnosis of PCD. Advances in medicine, especially in molecular genetics, have led to increasingly early discoveries of such cases, especially in those with nonclassical presentations. CASE REPORT This report describes a patient with bronchiectasis, lung cysts, finger clubbing, and failure to thrive who was misdiagnosed for several years as having asthma...
March 24, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38498551/gene-dosage-of-independent-dynein-arm-motor-preassembly-factors-influences-cilia-assembly-in-chlamydomonas-reinhardtii
#5
JOURNAL ARTICLE
Gervette M Penny, Susan K Dutcher
Motile cilia assembly utilizes over 800 structural and cytoplasmic proteins. Variants in approximately 58 genes cause primary ciliary dyskinesia (PCD) in humans, including the dynein arm (pre)assembly factor (DNAAF) gene DNAAF4. In humans, outer dynein arms (ODAs) and inner dynein arms (IDAs) fail to assemble motile cilia when DNAAF4 function is disrupted. In Chlamydomonas reinhardtii, a ciliated unicellular alga, the DNAAF4 ortholog is called PF23. The pf23-1 mutant assembles short cilia and lacks IDAs, but partially retains ODAs...
March 18, 2024: PLoS Genetics
https://read.qxmd.com/read/38457400/the-primary-ciliary-dyskinesia-related-genetic-risk-score-is-associated-with-susceptibility-to-adult-onset-asthma
#6
JOURNAL ARTICLE
Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa
BACKGROUND: Disturbance of mucociliary clearance is an important factor in the pathogenesis of asthma. We hypothesized that common variants in genes responsible for ciliary function may contribute to the development of asthma with certain phenotypes. METHODS: Three independent adult Japanese populations (including a total of 1,158 patients with asthma and 2,203 non-asthmatic healthy participants) were studied. First, based on the ClinVar database (https://www.ncbi...
2024: PloS One
https://read.qxmd.com/read/38444659/association-between-upper-and-lower-respiratory-disease-among-patients-with-primary-ciliary-dyskinesia-an-international-study
#7
JOURNAL ARTICLE
Yin Ting Lam, Jean-François Papon, Mihaela Alexandru, Andreas Anagiotos, Miguel Armengot, Mieke Boon, Andrea Burgess, Doriane Calmes, Suzanne Crowley, Sinan Ahmed D Dheyauldeen, Nagehan Emiralioglu, Ela Erdem Eralp, Christine van Gogh, Yasemin Gokdemir, Eric G Haarman, Amanda Harris, Isolde Hayn, Hasnaa Ismail-Koch, Bülent Karadag, Céline Kempeneers, Elisabeth Kieninger, Sookyung Kim, Natalie Lorent, Ugur Ozcelik, Charlotte Pioch, Johanna Raidt, Ana Reula, Jobst Roehmel, Synne Sperstad Kennelly, Panayiotis Yiallouros, Myrofora Goutaki
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 disease among patients with PCD in a multicentre study. METHODS: We included patients from the ENT Prospective International Cohort (EPIC-PCD). We studied associations of several reported ENT symptoms and chronic rhinosinusitis (defined using patient-reported information and examination findings) with reported sputum production and shortness of breath, using ordinal logistic regression...
March 2024: ERJ Open Research
https://read.qxmd.com/read/38441284/correlation-between-covid-19-infection-and-fetal-situs-inversus
#8
JOURNAL ARTICLE
Shuo Qiu, Shuang Wu, Ranran Yin, Bo Wang, Hongying Wu
BACKGROUND: Situs inversus is a rare congenital condition, defined by the mirror-image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID-19 pandemic. OBJECTIVES: To investigate the association between maternal COVID-19 infection and fetal situs inversus occurrence risk...
March 2024: Birth Defects Research
https://read.qxmd.com/read/38432987/primary-ciliary-dyskinesia-caused-by-homozygous-dnaaf1-mutations-resulting-from-a-consanguineous-marriage-a-case-report-from-japan
#9
JOURNAL ARTICLE
Masashi Ito, Kozo Morimoto, Mikio Saotome, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho, Ken Ohta
We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene...
March 4, 2024: Internal Medicine
https://read.qxmd.com/read/38408845/skewed-x-chromosome-inactivation-drives-the-proportion-of-dnaaf6-defective-airway-motile-cilia-and-variable-expressivity-in-primary-ciliary-dyskinesia
#10
JOURNAL ARTICLE
Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Rola Abou Taam, Catherine Faucon, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Florence Dastot-Le Moal, Bruno Copin, Nathalie Carion, Bruno Louis, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Rana Mitri, André Coste, Estelle Escudier, Guillaume Thouvenin, Serge Amselem, Marie Legendre
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked DNAAF6 , which result in the absence of ciliary dynein arms, whereas their heterozygous mothers are supposedly healthy. Our objective was to assess the possible clinical and ciliary consequences of X-chromosome inactivation (XCI) in these mothers. METHODS: XCI patterns of six mothers of male patients with DNAAF6 -related PCD were determined by DNA-methylation studies and compared with their clinical phenotype (6/6 mothers), as well as their ciliary phenotype (4/6 mothers), as assessed by immunofluorescence and high-speed videomicroscopy analyses...
February 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38397788/redox-imbalance-in-nasal-epithelial-cells-of-primary-ciliary-dyskinesia-patients
#11
JOURNAL ARTICLE
Ana Reula, Silvia Castillo-Corullón, Miguel Armengot, Guadalupe Herrera, Amparo Escribano, Francisco Dasí
Background: Primary Ciliary Dyskinesia (PCD) represents a rare condition marked by an abnormal mobility pattern of cilia and flagella, resulting in impaired mucociliary clearance. This deficiency leads to recurrent infections and persistent inflammation of the airways. While previous studies have indicated heightened oxidative stress levels in the exhaled breath condensate of pediatric PCD patients, the assessment of oxidative stress within the affected respiratory tissue remains unexplored. Aims: To assess the oxidative status of human nasal epithelial cells (NECs) in PCD patients...
February 2, 2024: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/38380959/the-utility-of-nasal-nitric-oxide-in-the-diagnostic-evaluation-of-primary-ciliary-dyskinesia
#12
JOURNAL ARTICLE
Katherine A Carr, Paul E Moore, Michael G O'Connor
BACKGROUND: There is no gold-standard test for primary ciliary dyskinesia (PCD), rather American Thoracic Society guidelines recommend starting with nasal nitric oxide (nNO) in children ≥5 years old and confirming the diagnosis with genetic testing or ciliary biopsy with transmission electron microscopy (TEM). These guidelines have not been studied in a clinical setting. We present a case series describing the PCD diagnostic process at our pediatric PCD center. METHODS: Diagnostic data from 131 patients undergoing PCD consultation were reviewed...
February 21, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38378235/mucus-clears-from-the-trachea-in-a-helix-a-new-twist-to-understanding-airway-diseases
#13
JOURNAL ARTICLE
David Abelson, James Di Michiel, Clayton Frater, Mark Pearson, Robert Russo, Martin Wechselberger, Alice Cottee, Lucy Morgan
BACKGROUND: Mucociliary clearance (MCC) is critical to lung health and is impaired in many diseases. The path of MCC may have an important impact on clearance but has never been rigorously studied. The objective of this study is to assess the three-dimensional path of human tracheal MCC in disease and health. METHODS: Tracheal MCC was imaged in 12 ex-smokers, 3 non-smokers (1 opportunistically imaged during acute influenza and repeated after recovery) and 5 individuals with primary ciliary dyskinesia (PCD)...
February 20, 2024: Thorax
https://read.qxmd.com/read/38372471/incidence-prevalence-and-pattern-of-medical-service-utilization-of-children-s-rare-lung-diseases-in-south-korea
#14
JOURNAL ARTICLE
Hwan Soo Kim, Jiin Choi, Eun Lee, Ji Soo Park, Sungsu Jung, Jisun Yoon, Kyeong Hun Lee, Kyunghoon Kim, Hyeon-Jong Yang, Dong In Suh
INTRODUCTION: Children's rare lung diseases are a heterogeneous group of rare lung diseases with significant morbidity and mortality. There is very limited information on the incidence and prevalence of children's rare lung diseases in Asia. We investigated the nationwide incidence, prevalence, and pattern of medical service utilization of children's rare lung diseases in Korea. METHODS: We studied patients who were diagnosed with rare lung diseases coded per International Statistical Classification of Diseases and Related Health Problems, 10th Edition and registered in the national rare diseases database of confirmed patients...
February 19, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38333087/identification-of-a-novel-rpgr-mutation-associated-with-retinitis-pigmentosa-and-primary-ciliary-dyskinesia-in-a-slovak-family-a-case-report
#15
Zuzana Kolkova, Peter Durdik, Veronika Holubekova, Anna Durdikova, Milos Jesenak, Peter Banovcin
BACKGROUND: The mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), characterised by impaired ciliary function predominantly in the respiratory tract. Since different mutations in the same gene can result in various clinical manifestations, it is important to describe a correlation between the gene variant and the observed phenotype...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38318660/antigen-stasis-and-airway-nitrosative-stress-in-human-primary-ciliary-dyskinesia
#16
JOURNAL ARTICLE
Benjamin Gaston, Laura Smith, Michael D Davis, Jessica Saunders, Ivana Daniels, Amjad Horani, Steven L Brody, Olivia Giddings, Yi Zhao, Nadzeya Marozkina
INTRODUCTION: Nasal NO (nNO) is low in most Primary Ciliary Dyskinesia (PCD) patients. Decreased ciliary motion could lead to antigen stasis, increasing oxidant production; and NO oxidation in the airways could both decrease gas phase NO and increase nitrosative stress. MATERIALS AND METHODS: We studied primary airway epithelial cells from healthy controls (HC) and PCD patients with several different genotypes. We measured antigen clearance in fenestrated membranes exposed apically to fluorescently- labeled antigen Dermatophagoiedes pteronyssinus (Derp1-f)...
February 6, 2024: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://read.qxmd.com/read/38311768/absolute-quantitation-of-human-wild-type-dnai1-protein-in-lung-tissue-using-a-nanolc-prm-ms-based-targeted-proteomics-approach-coupled-with-immunoprecipitation
#17
JOURNAL ARTICLE
Hui Wang, Xiaoyan Ni, Nicholas Clark, Kristen Randall, Lianne Boeglin, Sudha Chivukula, Caroline Woo, Frank DeRosa, Gang Sun
BACKGROUND: Dynein axonemal intermediate chain 1 protein (DNAI1) plays an essential role in cilia structure and function, while its mutations lead to primary ciliary dyskinesia (PCD). Accurate quantitation of DNAI1 in lung tissue is crucial for comprehensive understanding of its involvement in PCD, as well as for developing the potential PCD therapies. However, the current protein quantitation method is not sensitive enough to detect the endogenous level of DNAI1 in complex biological matrix such as lung tissue...
February 4, 2024: Clinical Proteomics
https://read.qxmd.com/read/38306274/dpcd-is-a-regulator-of-r2tp-in-ciliogenesis-initiation-through-akt-signaling
#18
JOURNAL ARTICLE
Yu-Qian Mao, Thiago V Seraphim, Yimei Wan, Ruikai Wu, Etienne Coyaud, Muhammad Bin Munim, Antonio Mollica, Estelle Laurent, Mohan Babu, Vito Mennella, Brian Raught, Walid A Houry
R2TP is a chaperone complex consisting of the AAA+ ATPases RUVBL1 and RUVBL2, as well as RPAP3 and PIH1D1 proteins. R2TP is responsible for the assembly of macromolecular complexes mainly acting through different adaptors. Using proximity-labeling mass spectrometry, we identified deleted in primary ciliary dyskinesia (DPCD) as an adaptor of R2TP. Here, we demonstrate that R2TP-DPCD influences ciliogenesis initiation through a unique mechanism by interaction with Akt kinase to regulate its phosphorylation levels rather than its stability...
January 31, 2024: Cell Reports
https://read.qxmd.com/read/38296613/stepwise-genetic-approach-for-the-diagnosis-of-primary-ciliary-dyskinesia-in-highly-consanguineous-populations
#19
JOURNAL ARTICLE
Dvir Gatt, Inbal Golan Tripto, Eran Levanon, Noga Arwas, Guy Hazan, Soliman Alkrinawi, Aviv D Goldbart, Micha Aviram
BACKGROUND: The American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity populations. METHODS: Patients with a suspected diagnosis of PCD underwent genetic testing according to a diagnostic algorithm composed of three steps: (1) patients with a previously known causative familial/Bedouin tribal pathogenic variant completed direct testing for a single variant; (2) if the initial test was negative or there was no known pathogenic variant, a PCD genetic panel was completed; (3) if the panel was negative, whole exome sequencing (WES) was completed...
January 31, 2024: Archives of Disease in Childhood
https://read.qxmd.com/read/38282372/-don-t-let-it-hold-you-back-the-experience-of-transition-to-adulthood-in-young-people-with-primary-ciliary-dyskinesia-an-interpretative-phenomenological-analysis
#20
JOURNAL ARTICLE
Rhys Dore, Isabella E Nizza, Hannah M Mitchison, Celine Lewis
Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied. Semi-structured interviews were conducted with three participants aged 18-24 years...
January 28, 2024: Journal of Health Psychology
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