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Ciliary dyskinesia

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https://www.readbyqxmd.com/read/29727693/mutations-in-c11orf70-cause-primary-ciliary-dyskinesia-with-randomization-of-left-right-body-asymmetry-due-to-defects-of-outer-and-inner-dynein-arms
#1
Inga M Höben, Rim Hjeij, Heike Olbrich, Gerard W Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G Nielsen, Maria C Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T Loges, Heymut Omran
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29727692/c11orf70-mutations-disrupting-the-intraflagellar-transport-dependent-assembly-of-multiple-axonemal-dyneins-cause-primary-ciliary-dyskinesia
#2
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M K Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R Mitchell, Anne-Marie Tassin, Hannah M Mitchison
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential for the assembly of the ciliary dynein motors and the active transport process that delivers them from their cytoplasmic assembly site into the axoneme...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29723155/a-pilot-study-exploring-the-impact-of-cardiac-medications-on-ciliary-beat-frequency-possible-implications-for-clinical-management
#3
Rohit S Loomba, Abhinav Bhushan, Adeleye J Afolayan
BACKGROUND: Cilia are involved in several physiologic processes, and at least a single primary cilium can be found on nearly every cell in the human body. Various factors, such as pH, temperature, exposure to medications and toxins can impact ciliary function as is manifested by changes in the ciliary beat frequency. Those with ciliary dyskinesia may also have congenital cardiac malformations and may require care in a cardiac intensive care unit. This study investigates the effect on the ciliary beat frequency of medications frequently used in a cardiac intensive care unit...
May 3, 2018: Journal of Basic and Clinical Physiology and Pharmacology
https://www.readbyqxmd.com/read/29720919/extended-interval-tobramycin-pharmacokinetics-in-a-pediatric-patient-with-primary-ciliary-dyskinesia-presenting-with-an-acute-respiratory-exacerbation
#4
Kristi L Higgins, Cady Noda, Jeremy S Stultz
The pharmacokinetics of tobramycin in patients with ciliary dyskinesia have not been previously reported. A 10-year-old female patient with primary ciliary dyskinesia was admitted to the general pediatrics floor with an acute respiratory exacerbation after several months of worsening lung function that was unresponsive to oral antibiotics. Extrapolating from cystic fibrosis dosing regimens, she was given intravenous tobramycin 320 mg (10.3 mg/kg/day) on admission as a result of concern for a Pseudomonas aeruginosa infection...
March 2018: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/29684285/imaging-lung-function-abnormalities-in-primary-ciliary-dyskinesia-using-hyperpolarised-gas-ventilation-mri
#5
Laurie J Smith, Noreen West, David Hughes, Helen Marshall, Christopher S Johns, Neil J Stewart, Ho-Fung Chan, Madhwesha Rao, David J Capener, Jody Bray, Guilhem J Collier, Paul Jc Hughes, Graham Norquay, Lynne Schofield, Phil Chetcuti, Eduardo Moya, Jim M Wild
No abstract text is available yet for this article.
April 23, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29652410/corrigendum-compound-heterozygous-variants-in-the-coiled-coil-domain-containing-40-gene-in-a-chinese-family-with-primary-ciliary-dyskinesia-cause-extreme-phenotypic-diversity-in-cilia-ultrastructure
#6
Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
[This corrects the article on p. 23 in vol. 9, PMID: 29456554.].
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29627801/the-sense-of-smell-in-primary-ciliary-dyskinesia
#7
EDITORIAL
Joanne Rimmer
No abstract text is available yet for this article.
April 7, 2018: Thorax
https://www.readbyqxmd.com/read/29605210/a-review-of-the-etiology-and-clinical-presentation-of-non-cystic-fibrosis-bronchiectasis-a-tertiary-care-experience
#8
Ozlem Satırer, Ayse Mete Yesil, Nagehan Emiralioglu, Gökcen Dilsa Tugcu, Ebru Yalcın, Deniz Dogru, Nural Kiper, Ugur Ozcelik
INTRODUCTION: Non-cystic fibrosis(CF) bronchiectasis has been recognized in children for the past 200 years. Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology. The aim of our study was to describe the clinical characteristics, laboratory, and radiological findings of a large population of patients with non-CF bronchiectasis at a tertiary center. METHODS: We analyzed the clinical findings of 187 patients diagnosed with non-CF bronchiectasis over a period of 10 years (January 2005-December 2015) at the Hacettepe University Faculty of Medicine Department of Pediatric Pulmonology...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29601588/zmynd10-stabilizes-intermediate-chain-proteins-in-the-cytoplasmic-pre-assembly-of-dynein-arms
#9
Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
Zinc finger MYND-type-containing 10 (ZMYND10), a cytoplasmic protein expressed in ciliated cells, causes primary ciliary dyskinesia (PCD) when mutated; however, its function is poorly understood. Therefore, in this study, we examined the roles of ZMYND10 using Zmynd10-/-mice exhibiting typical PCD phenotypes, including hydrocephalus and laterality defects. In these mutants, morphology, the number of motile cilia, and the 9+2 axoneme structure were normal; however, inner and outer dynein arms (IDA and ODA, respectively) were absent...
March 30, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29596680/differential-antiviral-activities-of-respiratory-syncytial-virus-rsv-inhibitors-in-human-airway-epithelium
#10
Carmen Mirabelli, Martine Jaspers, Mieke Boon, Mark Jorissen, Mohamed Koukni, Dorothée Bardiot, Patrick Chaltin, Arnaud Marchand, Johan Neyts, Dirk Jochmans
Objectives: We report the use of reconstituted 3D human airway epithelium cells (HuAECs) of bronchial origin in an air-liquid interface to study respiratory syncytial virus (RSV) infection and to assess the efficacy of RSV inhibitors in (pre-)clinical development. Methods: HuAECs were infected with RSV-A Long strain (0.01 CCID50/cell, where CCID50 represents 50% cell culture infectious dose in HEp2 cells) on the apical compartment of the culture. At the time of infection or at 1 or 3 days post-infection, selected inhibitors were added and refreshed daily on the basal compartment of the culture...
March 27, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29552537/primary-ciliary-dyskinesia-and-situs-ambiguus-a-rare-association
#11
Kumar Narahari Narahari, Anu Kapoor, Sarat Kumar Sanamandra, Surya Ramachandra Varma Gunturi
Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29552400/novel-endoscope-with-increased-depth-of-field-for-imaging-human-nasal-tissue-by-microscopic-optical-coherence-tomography
#12
Hinnerk Schulz-Hildebrandt, Mario Pieper, Charlotte Stehmar, Martin Ahrens, Christian Idel, Barbara Wollenberg, Peter König, Gereon Hüttmann
Intravital microscopy (IVM) offers the opportunity to visualize static and dynamic changes of tissue on a cellular level. It is a valuable tool in research and may considerably improve clinical diagnosis. In contrast to confocal and non-linear microscopy, optical coherence tomography (OCT) with microscopic resolution (mOCT) provides intrinsically cross-sectional imaging. Changing focus position is not needed, which simplifies especially endoscopic imaging. For in-vivo imaging, here we are presenting endo-microscopic OCT (emOCT)...
February 1, 2018: Biomedical Optics Express
https://www.readbyqxmd.com/read/29550078/nasal-polyposis-pathophysiology-endotype-and-phenotype-open-issues
#13
REVIEW
Giuseppe Brescia, Claudia Zanotti, Daniela Parrino, Umberto Barion, Gino Marioni
PURPOSE: Endotyping chronic rhinosinusitis with nasal polyps (CRSwNP) poses a challenge for rhinologists nowadays. Phenotyping CRSwNP proved inappropriate as an approach to their classification because of their common clinical features. Endotyping, being based on the pathogenic mechanism, provides a precise picture more appropriate for use in clinical practice. Patients' treatment and follow-up can thus be tailored to cope with the degree of aggressiveness of a specific CRSwNP endotype...
March 7, 2018: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/29511670/whole-exome-sequencing-identified-a-novel-compound-heterozygous-mutation-of-lrrc6-in-a-chinese-primary-ciliary-dyskinesia-patient
#14
Lv Liu, Hong Luo
Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29493257/seeing-cilia-imaging-modalities-for-ciliary-motion-and-clinical-connections
#15
Jacelyn Emily Peabody, Ren-Jay Shei, Brent M Bermingham, Scott Edward Phillips, Brett Turner, Steven M Rowe, George Martin Solomon
The respiratory tract is lined with multi-ciliated epithelial cells that function to move mucus and trapped particles via the mucociliary transport apparatus. Genetic and acquired ciliopathies result in diminished mucociliary clearance, contributing to disease pathogenesis. Recent innovations in imaging technology has advanced our understanding of ciliary motion in health and disease states. Application of imaging modalities including transmission electron microscopy (TEM), high-speed video microscopy (HSVM), and micron-optical coherence tomography (μOCT) could improve diagnostics and be applied for precision medicine...
March 1, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29490941/olfactory-dysfunction-is-worse-in-primary-ciliary-dyskinesia-compared-with-other-causes-of-chronic-sinusitis-in-children
#16
Massimo Pifferi, Andrew Bush, Michele Rizzo, Alessandro Tonacci, Maria Di Cicco, Martina Piras, Fabrizio Maggi, Giulia Paiola, Angela Michelucci, Angela Cangiotti, Diego Peroni, Davide Caramella, Attilio L Boner
Cilia have multiple functions including olfaction. We hypothesised that olfactory function could be impaired in primary ciliary dyskinesia (PCD). Olfaction, nasal nitric oxide (nNO) and sinus CT were assessed in patients with PCD and non-PCD sinus disease, and healthy controls (no CT scan). PCD and non-PCD patients had similar severity of sinus disease. Despite this, defective olfaction was more common in patients with PCD (P<0.0001) and more severe in patients with PCD with major Transmission Electron Microscopy (TEM) abnormalities...
February 28, 2018: Thorax
https://www.readbyqxmd.com/read/29487997/reduced-anaerobic-and-aerobic-performance-in-children-with-primary-ciliary-dyskinesia
#17
Senem Simsek, Deniz Inal-Ince, Aslihan Cakmak, Nagehan Emiralioglu, Ebru Calik-Kutukcu, Melda Saglam, Naciye Vardar-Yagli, Hayriye Ugur Ozcelik, Hazal Sonbahar-Ulu, Cemile Bozdemir-Ozel, Nural Kiper, Hulya Arikan
Primary ciliary dyskinesia (PCD) restricts lifestyle and increases morbidity. The aim of the study was to investigate anaerobic and aerobic performance in children with PCD and their healthy counterparts. Thirty-one children with PCD and 29 age- and sex-matched healthy subjects were studied. Pulmonary function, hand grip strength (HGS), quadriceps strength (QMS), physical activity, anaerobic capacity (muscle power sprint test), and aerobic performance (modified shuttle walk test (MSWT)) were determined. Pulmonary function, HGS, QMS, mean anaerobic power (MAP), and MSWT distance in PCD were significantly lower than those of healthy subjects (p < 0...
May 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29481304/identification-of-an-immortalised-human-airway-epithelial-cell-line-with-dyskinetic-cilia
#18
Li Eon Kuek, Paul Griffin, Paul Martinello, Alison N Graham, Paul Kalitsis, Philip J Robinson, Graham A Mackay
Primary ciliary dyskinesia (PCD) is an inherited, currently incurable condition. In the respiratory system, PCD causes impaired functioning of the mucociliary escalator leading to nasal congestion, cough and recurrent otitis media which commonly progresses to cause more serious and permanent damage including hearing deficits, chronic sinusitis and bronchiectasis. New treatment options for the condition are thus necessary. In characterising an immortalised human bronchial epithelial cell line (BCi-NS1.1), grown at an air/liquid interface to permit differentiation, we have identified that these cells have dyskinetic motile cilia...
February 26, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29467202/primary-ciliary-dyskinesia-with-normal-ultrastructure-three-dimensional-tomography-detects-absence-of-dnah11
#19
Amelia Shoemark, Thomas Burgoyne, Robert Kwan, Mellisa Dixon, Mitali P Patel, Andrew V Rogers, Alexandros Onoufriadis, Juliet Scully, Farheen Daudvohra, Thomas Cullup, Michael R Loebinger, Robert Wilson, Eddie M K Chung, Andrew Bush, Hannah M Mitchison, Claire Hogg
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30% of patients, such as those with DNAH11 mutations, apparently normal ultrastructure makes diagnosis difficult. Genetic analysis supports diagnosis, but may not identify definitive causal variants. Electron tomography, an extension of TEM, produces three-dimensional ultrastructural ciliary models with superior resolution to TEM. Our hypothesis is that tomography using existing patient samples will enable visualisation of DNAH11- associated ultrastructural defects...
February 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29456554/compound-heterozygous-variants-in-the-coiled-coil-domain-containing-40-gene-in-a-chinese-family-with-primary-ciliary-dyskinesia-cause-extreme-phenotypic-diversity-in-cilia-ultrastructure
#20
Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 ( CCDC40 ) gene are associated with PCD. A Chinese proband with a clinical diagnosis of PCD was analyzed for mutations in these genes to identify the genetic basis of the disease in the family. The proband showed altered mucociliary clearance of the airways, various degree of hyperemia and edema of the mucous membrane, left/right body asymmetry, infertility and ultrastructural abnormality of cilia in both sperm and bronchioles...
2018: Frontiers in Genetics
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