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Primary ciliary dyskinesia

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https://www.readbyqxmd.com/read/29339787/cilia-related-protein-spef2-regulates-osteoblast-differentiation
#1
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
https://www.readbyqxmd.com/read/29323929/variation-in-cilia-protein-genes-and-progression-of-lung-disease-in-cystic-fibrosis
#2
Elizabeth Blue, Tin L Louie, Jessica X Chong, Scott J Hebbring, Kathleen C Barnes, Nicholas M Rafaels, Michael R Knowles, Ronald L Gibson, Michael J Bamshad, Mary J Emond
RATIONALE: Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary clearance and obstructive lung disease. We hypothesized that genes underlying the development or function of cilia may modify lung disease severity in persons with cystic fibrosis. OBJECTIVES: To test this hypothesis, we compared variants in 93 candidate genes in both upper and lower tertiles of lung function in a large cohort of children and adults with cystic fibrosis to a population control data set...
January 11, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29316973/kartagener-s-syndrome-a-case-report
#3
Abilo Tadesse, Hailemariam Alemu, Mezgebu Silamsaw, Yonathan Gebrewold
BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade...
January 10, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29302744/brain-structural-and-functional-asymmetry-in-human-situs-inversus-totalis
#4
Guy Vingerhoets, Xiang Li, Lewis Hou, Stephanie Bogaert, Helena Verhelst, Robin Gerrits, Roma Siugzdaite, Neil Roberts
Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus totalis, SIT). Language-related brain structural and functional lateralization of SIT participants, including peri-Sylvian gray and white matter asymmetries and hemispheric language dominance, was similar to those of 15 control participants individually matched for sex, age, education, and handedness. In contrast, the SIT cohort showed reversal of the brain (Yakovlevian) torque (occipital petalia and occipital bending) compared to the control group...
January 4, 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29287859/hearing-loss-in-children-with-primary-ciliary-dyskinesia
#5
Kathryn L Kreicher, Heather K Schopper, Akash N Naik, Jonathan L Hatch, Ted A Meyer
OBJECTIVES: To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors. METHODS: A retrospective analysis of children with a diagnosis of PCD, Kartagener's syndrome, or situs inversus in the AudGen Database was conducted. Audiograms were analyzed for type of hearing loss (HL), severity, laterality, and progression...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29276419/lessons-from-unilateral-loss-of-cilia-early-nasal-nitric-oxide-gas-mixing-and-the-role-of-sinus-patency-in-determining-nasal-nitric-oxide
#6
Kenneth Rodriguez, Benjamin Gaston, Jay Wasman, Nadzeya Marozkina
Nasal nitric oxide (nNO) measurement is a diagnostic test for primary ciliary dyskinesia (PCD). Here, we have shown the development of unilateral PCD-like symptoms associated with low nNO. A 60-year-old man had been previously healthy but developed unilateral, severe pansinusitis. He required surgical drainage of all left sinuses, and biopsies showed loss of the ciliated epithelium. At 4 weeks, he had unilateral (left-sided), profuse, clear rhinorrhea characteristic of PCD, and his surgical ostia were all patent endoscopically...
2017: Clinical Medicine Insights. Ear, Nose and Throat
https://www.readbyqxmd.com/read/29242267/-infertility-in-an-adult-cohort-with-primary-ciliary-dyskinesia-phenotype-gene-association-gert-jan-vanaken-laurence-bassinet-mieke-boon-rahma-mani-isabelle-honor%C3%A3-jean-francois-papon-harry-cuppens-martine-jaspers-natalie-lorent-andr%C3%A3-coste-estelle-escudier
#7
https://www.readbyqxmd.com/read/29228333/dnaaf1-links-heart-laterality-with-the-aaa-atpase-ruvbl1-and-ciliary-intraflagellar-transport
#8
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD. We identified a homozygous DNAAF1 missense mutation, p...
December 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29176750/chemoattractants-and-cytokines-in-primary-ciliary-dyskinesia-and-cystic-fibrosis-key-players-in-chronic-respiratory-diseases
#9
REVIEW
Maaike Cockx, Mieke Gouwy, Jo Van Damme, Sofie Struyf
Patients with primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), two inherited disorders, suffer from recurrent airway infections characterized by persistent bacterial colonization and uncontrollable inflammation. Although present in high counts, neutrophils fail to clear infection in the airways. High levels of C-X-C motif chemokine ligand 8/interleukin-8 (CXCL8/IL-8), the most potent chemokine to attract neutrophils to sites of infection, are detected in the sputum of both patient groups and might cause the high neutrophil influx in the airways...
November 27, 2017: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/29167384/drc2-ccdc65-is-a-central-hub-for-assembly-of-the-n-drc-and-other-regulators-of-ciliary-and-flagellar-motility
#10
Raqual Bower, Douglas Tritschler, Kristyn VanderWaal Mills, Thomas Heuser, Daniela Nicastro, Mary E Porter
The nexin-dynein regulatory complex (N-DRC) plays a central role in the regulation of ciliary and flagellar motility. In most species, the N-DRC contains at least eleven subunits, but the specific function of each subunit is unknown. Mutations in three subunits (DRC1, DRC2/CCDC65, DRC4/GAS8) have been linked to defects in ciliary motility in humans and lead to a ciliopathy known as primary ciliary dyskinesia (PCD). Here we characterize the biochemical, structural, and motility phenotypes of two mutations in the DRC2 gene of Chlamydomonas Using high-resolution proteomic and structural approaches, we find that the C-terminal region of DRC2 is critical for the co-assembly of DRC2 and DRC1 to form the base plate of N-DRC and its attachment to the outer doublet microtubule...
November 22, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29135867/analysis-of-otologic-features-of-patients-with-primary-ciliary-dyskinesia
#11
Kazuhiko Takeuchi, Masako Kitano, Hiroshi Sakaida, Satoko Usui, Sawako Masuda, Satoru Ogawa, Makoto Ikejiri, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
OBJECTIVE: To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course. STUDY DESIGN: Retrospective patient review. SETTING: Tertiary referral center. PATIENTS: Fifteen patients (mean age, 16.9 years [range, 1-32 yr]; 8 males and 7 females) diagnosed with PCD at our university hospital in the last 12 years. INTERVENTION: Diagnostic...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29133352/primary-ciliary-dyskinesia-keep-it-on-your-radar
#12
EDITORIAL
Margaret Rosenfeld, Lawrence E Ostrowski, Maimoona A Zariwala
No abstract text is available yet for this article.
November 13, 2017: Thorax
https://www.readbyqxmd.com/read/29121203/functional-characterization-of-tektin-1-in-motile-cilia-and-evidence-for-tekt1-as-a-new-candidate-gene-for-motile-ciliopathies
#13
Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29116124/monocytes-from-patients-with-primary-ciliary-dyskinesia-show-enhanced-inflammatory-properties-and-produce-higher-levels-of-pro-inflammatory-cytokines
#14
M Cockx, M Gouwy, P Ruytinx, I Lodewijckx, A Van Hout, S Knoops, N Pörtner, I Ronsse, L Vanbrabant, V Godding, K De Boeck, J Van Damme, M Boon, S Struyf
Patients with Primary Ciliary Dyskinesia (PCD) suffer from recurrent upper and lower airway infections due to defects in the cilia present on the respiratory epithelium. Since chronic inflammatory conditions can cause changes in innate immune responses, we investigated whether monocytes isolated from the peripheral blood of pediatric PCD patients respond differently to inflammatory stimuli, compared to monocytes from healthy children and adults. The receptor for C5a (C5aR) was upregulated in PCD, whereas expression levels of the leukocyte chemoattractant receptors CCR1, CCR2, CCR5, BLT1 and FPR1 on PCD monocytes were similar to those on monocytes from healthy individuals...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29115761/diagnosis-and-management-of-children-with-primary-ciliary-dyskinesia
#15
Amanda Harris
Primary ciliary dyskinesia (PCD) is a rare, genetic disorder of the motile cilia characterised by chronic lung disease, nasal and sinus disease, chronic ear infections with glue ear leading to possible hearing impairment, and subfertility. Half of patients have organ laterality defects. Despite symptoms being present from birth, PCD remains underdiagnosed. Early diagnosis and symptom management may reduce morbidity, improve quality of life and ensure children are adequately supported to meet their full potential...
September 11, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/29099731/update-on-pediatric-sinus-surgery-indications-and-outcomes
#16
David A Gudis, Zachary M Soler
PURPOSE OF REVIEW: To review the recent literature of pediatric endoscopic sinus surgery (ESS). RECENT FINDINGS: Sinus balloon catheter dilation is an important addition to the surgical treatment tools for pediatric chronic rhinosinusitis (PCRS). ESS is a safe and effective therapeutic modality for uncomplicated PCRS. For PCRS complicated by comorbidities including cystic fibrosis and primary ciliary dyskinesia, ESS and adjuvant medical therapy confers significant sinus, pulmonary, and quality of life benefits to pediatric patients...
December 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/29081265/bacterial-infections-in-patients-with-primary-ciliary-dyskinesia-comparison-with-cystic-fibrosis
#17
Christiaan Dm Wijers, James F Chmiel, Benjamin M Gaston
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder associated with severely impaired mucociliary clearance caused by defects in ciliary structure and function. Although recurrent bacterial infection of the respiratory tract is one of the major clinical features of this disease, PCD airway microbiology is understudied. Despite the differences in pathophysiology, assumptions about respiratory tract infections in patients with PCD are often extrapolated from cystic fibrosis (CF) airway microbiology...
November 2017: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/29072668/-polypous-pansinusitis-with-the-deformation-of-the-external-nose-in-a-8-year-old-child-presenting-with-the-primary-ciliary-dyskinesia-syndrome
#18
A I Asmanov, N V Zlobina, E Yu Radtsig, G A Polev, E V Sorokina
This article reports a rare observation of the development of chronic polypous pansinusitis with deformation of the external nose in a 8 year-old child presenting with primary ciliary dyskinesia syndrome. The patient underwent multiple surgical interventions in the preceding period. The key argument in favour of the definitive diagnosis was the results of investigation of ciliated epithelium biopsy taken from the nasal cavity and bronchi in combination with the data obtained by diagnostic endoscopy of the nasal cavity and nasopharynx supplemented by computed tomography...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/29056509/the-effect-of-l-arginine-on-ciliary-beat-frequency-in-pcd-patients-non-pcd-respiratory-patients-and-healthy-controls
#19
Panayiotis Kouis, Andreas Hadjisavvas, Nicos Middleton, Stefania I Papatheodorou, Kyriacos Kyriacou, Panayiotis K Yiallouros
OBJECTIVES: Few studies have examined the potentially therapeutic effect of increasing the production of endogenous nitric oxide (NO) in Primary Ciliary Dyskinesia (PCD) and other chronic respiratory conditions. Nasal NO is low in PCD and has been found to correlate with compromised Ciliary Beat Frequency (CBF). In this study we assessed the effect of increasing l-Arginine, as the substrate of NO synthases, on CBF in biopsies of human respiratory ciliated epithelium. METHODOLOGY: A total of 28 suspect cases with chronic respiratory manifestations referred for PCD diagnostic testing and 8 healthy controls underwent nasal brushing...
October 19, 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29033599/primary-ciliary-dyskinesia-mechanisms-and-management
#20
REVIEW
Nadirah Damseh, Nada Quercia, Nisreen Rumman, Sharon D Dell, Raymond H Kim
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence...
2017: Application of Clinical Genetics
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