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Ciliary dyskinesia

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
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
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
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...
February 27, 2018: European Journal of Pediatrics
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
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
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
Reshma Ghedia, Jahangir Ahmed, Annakan Navaratnam, Jonny Harcourt
INTRODUCTION: Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media with effusion (OME), particularly in infants. PCD patients provide us with a cohort of patients with OME that is not treated with ventilatory tube (VT) insertion as these have been shown to result in frequent complications including chronic otorrhoea, early extrusion and persistent perforation without significant improvement to hearing in the long term...
February 2018: International Journal of Pediatric Otorhinolaryngology
Maliha Zahid, Abha Bais, Xin Tian, William Devine, Dong Ming Lee, Cyrus Yau, Daniel Sonnenberg, Lee Beerman, Omar Khalifa, Cecilia W Lo
BACKGROUND: Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning...
2018: PloS One
K Wang, X Chen, C Y Guo, F Q Liu, J R Wang, L F Sun
Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Related literatures on gene variation of PCD in Chinese were reviewed from Online Mendelian Inheritance in Man, Human Gene Mutation Database, PubMed and CNKI up to July 2017 by using search terms of "PCD" , "gene" , "Chinese"...
February 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Sabine Dettmer, Felix Ringshausen, Jens Vogel-Claussen, Jan Fuge, Amir Faschkami, Hoen-Oh Shin, Nicolaus Schwerk, Tobias Welte, Frank Wacker, Jessica Rademacher
OBJECTIVES: Among patients with non-cystic fibrosis bronchiectasis, 1-18% have an underlying diagnosis of primary ciliary dyskinesia (PCD) and it is suspected that there is under-recognition of this disease. Our intention was to evaluate the specific features of PCD seen on computed tomography (CT) in the cohort of bronchiectasis in order to facilitate the diagnosis. MATERIALS AND METHODS: One hundred and twenty-one CTs performed in patients with bronchiectasis were scored for the involvement, type, and lobar distribution of bronchiectasis, bronchial dilatation, and bronchial wall thickening...
2018: PloS One
Özge Yılmaz, Metin Akgün
No abstract text is available yet for this article.
April 2017: Turkish Thoracic Journal
Sinan Ozkavukcu, Ciler Celik-Ozenci, Esma Konuk, Cem Atabekoglu
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disease with abnormalities in the structure of cilia, causing impairment of muco-ciliary clearance with respiratory tract infections, heterotaxia and abnormal sperm motility with male infertility. Here, with a comprehensive literature review, we report a couple with an infertility history of 9 years and three unsuccessful IVF treatments, where male partner has Kartagener's Syndrome, a subtype of PCD, displaying recurrent respiratory infections, dextrocardia and total asthenozoospermia...
February 5, 2018: Reproductive Biology and Endocrinology: RB&E
Julia Carlens, Jan Fuge, Timothy Price, David S DeLuca, Mareike Price, Gesine Hansen, Nicolaus Schwerk
Bronchoscopy is an established procedure routinely used by pediatric pulmonologists. Despite its frequent application, data on complications and specific risk factors are scarce and sometimes conflicting. AIM: The aim of this study was to evaluate frequency and severity of clearly defined complications of bronchoscopy in children that occur both during and after the procedure, and to identify potential risk factors. METHOD: A retrospective single-center analysis of 670 elective bronchoscopies in 522 children aged 0-17 years during the time period of 2008-2012 was performed...
February 2, 2018: Pediatric Pulmonology
S Irving, M Dixon, M R Fassad, E Frost, J Hayward, K Kilpin, S Ollosson, A Onoufriadis, M P Patel, J Scully, S B Carr, H M Mitchison, M R Loebinger, C Hogg, A Shoemark, A Bush
PURPOSE: Primary ciliary dyskinesia (PCD) is characterised by repeated upper and lower respiratory tract infections, neutrophilic airway inflammation and obstructive airway disease. Different ultrastructural ciliary defects may affect lung function decline to different degrees. Lung clearance index (LCI) is a marker of ventilation inhomogeneity that is raised in some but not all patients with PCD. We hypothesised that PCD patients with microtubular defects would have worse (higher) LCI than other PCD patients...
January 24, 2018: Lung
Marilyn Fuger, Camille Aupiais, Guillaume Thouvenin, Jessica Taytard, Aline Tamalet, Estelle Escudier, Priscilla Boizeau, Harriet Corvol, Nicole Beydon
Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) both entail bronchiectasis and pulmonary impairment as measured using spirometry, during childhood. We aimed at looking whether blood gas exchanges progressed differently between CF and PCD children in a retrospective study of repeated measurements. Comparisons between groups (Wilcoxon-Mann-Whitney and Chi-squared tests) and a mixed linear model, adjusted for age, evaluated associations between diseases and PaO2, PaCO2, or PaO2-PaCO2 ratio. Among 42 PCD and 73 CF children, 62% and 59% had respectively bronchiectasis (P = 0...
January 20, 2018: Respiratory Physiology & Neurobiology
Patrick Lorès, Charles Coutton, Elma El Khouri, Laurence Stouvenel, Maëlle Givelet, Lucie Thomas, Baptiste Rode, Alain Schmitt, Bruno Louis, Zeinab Sakheli, Marhaba Chaudhry, Angeles Fernandez-Gonzales, Alex Mitsialis, Denis Dacheux, Jean-Philippe Wolf, Jean-François Papon, Gérard Gacon, Estelle Escudier, Christophe Arnoult, Mélanie Bonhivers, Sergey N Savinov, Serge Amselem, Pierre F Ray, Emmanuel Dulioust, Aminata Touré
Motile cilia and sperm flagella share an extremely conserved microtubule-based cytoskeleton, called the axoneme, which sustains beating and motility of both organelles. Ultra-structural and/or functional defects of this axoneme are well-known to cause primary ciliary dyskinesia (PCD), a disorder characterized by recurrent respiratory tract infections, chronic otitis media, situs inversus, male infertility and in most severe cases, hydrocephalus. Only recently, mutations in genes encoding axonemal proteins with preferential expression in the testis were identified in isolated male infertility; in those cases, individuals displayed severe asthenozoospermia due to Multiple Morphological Abnormalities of the sperm Flagella (MMAF) but not PCD features...
January 22, 2018: Human Molecular Genetics
T Paff, I E Kooi, Y Moutaouakil, E Riesebos, E A Sistermans, J M A Daniels, M M Weiss, H W M Niessen, E G Haarman, G Pals, D Micha
We aimed to determine the diagnostic yield of a targeted-exome panel in a cohort of 74 Dutch primary ciliary dyskinesia (PCD) patients. The panel consisted of 26 PCD-related and 284 candidate genes. To prioritize PCD candidate genes, we investigated the transcriptome of human airway cells of twelve healthy volunteers during in vitro ciliogenesis and hypothesized that PCD-related genes show significant upregulation. We compared gene expression in epithelial precursor cells grown as collagen monolayer and ciliated cells grown in suspension by RNA sequencing...
January 23, 2018: Human Mutation
Michal Shteinberg, Najwan Nassrallah, Jenny Jrbashyan, Nechama Uri, Nili Stein, Yochai Adir
The association of bronchiectasis with chronic rhinosinusitis (CRS) has been reported. However, apart from primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), predisposing conditions have not been established. We aimed to define clinical and laboratory features that differentiate patients with bronchiectasis with upper airway symptoms (UASs) and without PCD from patients without UASs. We reviewed charts of adults with bronchiectasis, excluding CF and PCD. UASs were defined as nasal discharge most days of the year, sinusitis or nasal polyps...
January 2018: ERJ Open Research
Mari S Lehti, Henna Henriksson, Petri Rummukainen, Fan Wang, Liina Uusitalo-Kylmälä, Riku Kiviranta, Terhi J Heino, Noora Kotaja, Anu Sironen
Sperm flagellar protein 2 (SPEF2) is essential for motile cilia, and lack of SPEF2 function causes male infertility and primary ciliary dyskinesia. Cilia are pointing out from the cell surface and are involved in signal transduction from extracellular matrix, fluid flow and motility. It has been shown that cilia and cilia-related genes play essential role in commitment and differentiation of chondrocytes and osteoblasts during bone formation. Here we show that SPEF2 is expressed in bone and cartilage. The analysis of a Spef2 knockout (KO) mouse model revealed hydrocephalus, growth retardation and death prior to five weeks of age...
January 16, 2018: Scientific Reports
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