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Ciliary dyskinesia

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https://www.readbyqxmd.com/read/29135867/analysis-of-otologic-features-of-patients-with-primary-ciliary-dyskinesia
#1
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
#2
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/29131540/equivalence-in-outcomes-between-draf-2b-vs-draf-3-frontal-sinusotomy-for-refractory-chronic-frontal-rhinosinusitis
#3
Vishal S Patel, Garret Choby, Liang-Chun Shih, Zara M Patel, Jayakar V Nayak, Peter H Hwang
BACKGROUND: Endoscopic Draf 2B and Draf 3 frontal sinusotomies are frequently performed for chronic refractory frontal rhinosinusitis. The purpose of this study was to compare outcomes between Draf 2B and Draf 3 procedures. METHODS: A retrospective cohort study was conducted comparing patients undergoing bilateral Draf 2B vs Draf 3 procedures from 2000 to 2016. Patients with neoplasia, dysplasia, mucocele, cystic fibrosis, or ciliary dyskinesia were excluded. Preoperative disease parameters included number of prior surgeries, presence of polyps, preoperative 22-item Sino-Nasal Outcome Test (SNOT-22) score, frontal Lund-Mackay score, anterior-posterior diameter of the frontal ostium, and Global Osteitis Scoring Scale (GOSS)...
November 13, 2017: International Forum of Allergy & Rhinology
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29018439/neutrophils-from-patients-with-primary-ciliary-dyskinesia-display-reduced-chemotaxis-to-cxcr2-ligands
#12
Maaike Cockx, Mieke Gouwy, Véronique Godding, Kris De Boeck, Jo Van Damme, Mieke Boon, Sofie Struyf
Primary ciliary dyskinesia (PCD), cystic fibrosis (CF), and chronic obstructive airway disease are characterized by neutrophilic inflammation in the lungs. In CF and chronic obstructive airway disease, improper functioning of neutrophils has been demonstrated. We hypothesized that the pulmonary damage in PCD might be aggravated by abnormal functioning neutrophils either as a primary consequence of the PCD mutation or secondary to chronic inflammation. We analyzed chemotactic responses and chemoattractant receptor expression profiles of peripheral blood neutrophils from 36 patients with PCD, 21 healthy children and 19 healthy adults...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29018009/paediatric-case-of-ductal-origin-of-right-pulmonary-artery-presenting-with-exertional-dyspnoea-and-mimicking-asthma-and-primary-ciliary-dyskinesia
#13
Malvika Sagar, Anderson S Marshall, Cody W Clary, Athar M Qureshi
Ductal origin of pulmonary artery is a rare anomaly that is frequently misdiagnosed. Patients may present with exertional dyspnoea, recurrent respiratory infections and pulmonary hypertension. The presence of pulmonary hypertension can adversely affect clinical outcome in these patients; hence, early identification and intervention is the key to improve survival. A case of a 3-year-old child presenting with exertional dyspnoea is presented in this report. Chest radiograph revealed right-sided pulmonary hypoplasia and mediastinal shift to the right...
October 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28947038/clinical-impact-of-pseudomonas-aeruginosa-colonization-in-patients-with-primary-ciliary-dyskinesia
#14
Malena Cohen-Cymberknoh, Nir Weigert, Alex Gileles-Hillel, Oded Breuer, Natalia Simanovsky, Mieke Boon, Kris De Boeck, Angelo Barbato, Deborah Snijders, Mirella Collura, Ugo Pradal, Hannah Blau, Huda Mussaffi, Mareike Price, Lea Bentur, Michal Gur, Micha Aviram, Elie Picard, Michal Shteinberg, Galit Livnat, Joseph Rivlin, Nurith Hiller, David Shoseyov, Israel Amirav, Eitan Kerem
BACKGROUND: Airway infections in Primary Ciliary Dyskinesia (PCD) are caused by different microorganisms, including pseudomonas aeruginosa (PA). The aim of this study was to investigate the association of PA colonization and the progression of lung disease in PCD. METHODS: Data from 11PCD centers were retrospectively collected from 2008 to 2013. Patients were considered colonized if PA grew on at least two separate sputum cultures; otherwise, they were classified as non-colonized...
October 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28939216/a-targeted-next-generation-sequencing-panel-reveals-novel-mutations-in-japanese-patients-with-primary-ciliary-dyskinesia
#15
Kazuhiko Takeuchi, Masako Kitano, Hiroko Kiyotoshi, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The early diagnosis of PCD is important for the prevention of long-term sequelae; however, this is often challenging because of the phenotypic heterogeneity of PCD and difficulty in genetic analysis. The majority of PCD patients in Japan are not diagnosed properly. To diagnose PCD more accurately, we developed a targeted next-generation sequencing (NGS) panel...
September 19, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28925796/should-transmission-electron-microscopy-and-ultrastructural-cilia-evaluation-remain-part-of-the-diagnostic-work-up-for-primary-ciliary-dyskinesia
#16
Claudius Werner, Panayiotis Kouis
The diagnostic work-up for primary ciliary dyskinesia (PCD) traditionally includes ciliary ultrastructural assessment using transmission electron microscopy (TEM). However, the identification of genetic variants of PCD that are missed by TEM, along with the development of novel diagnostic modalities for PCD that allow structural evaluation of cilia, such as immunofluorescence analysis and the increased availability of genetic testing, calls into questioning the contemporary role of TEM in the diagnostic work-up for PCD...
September 19, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28925789/motile-cilia-defects-in-diseases-other-than-primary-ciliary-dyskinesia-the-contemporary-diagnostic-and-research-role-for-transmission-electron-microscopy
#17
Hannah M Mitchison, Amelia Shoemark
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development...
September 19, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28922056/secondary-defects-detected-by-transmission-electron-microscopy-in-primary-ciliary-dyskinesia-diagnostics
#18
Mellisa Dixon, Amelia Shoemark
Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. A diagnosis is ultimately confirmed by the presence of a hallmark defect identified by transmission electron microscopy or biallelic variants in a known PCD gene...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28922052/applications-of-emerging-transmission-electron-microscopy-technology-in-pcd-research-and-diagnosis
#19
Amelia Shoemark
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Since the first description of PCD in 1976, assessment of ciliary ultrastructure by transmission electron microscopy (TEM) has been central to diagnosis and research...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28915070/value-of-transmission-electron-microscopy-for-primary-ciliary-dyskinesia-diagnosis-in-the-era-of-molecular-medicine-genetic-defects-with-normal-and-non-diagnostic-ciliary-ultrastructure
#20
Adam J Shapiro, Margaret W Leigh
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes...
September 15, 2017: Ultrastructural Pathology
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