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https://www.readbyqxmd.com/read/28922056/secondary-defects-detected-by-transmission-electron-microscopy-in-primary-ciliary-dyskinesia-diagnostics
#1
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/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
#2
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
https://www.readbyqxmd.com/read/28898962/occupational-rhinoconjunctivitis-caused-by-the-common-indoor-plant-hoya-compacta
#3
D Sherson, A D Nielsen, C G Mortz, L Vestergaard, L P A Brandt, E Jørs, J Bælum
Background: Allergic reactions to the common house plant Hoya compacta (HC) have not previously been described. Aims: To confirm HC as the cause of rhinoconjunctivitis in three horticultural workers. Methods: Greenhouse working conditions were reproduced in our challenge chamber. Results: All three cases developed rhinoconjunctivitis when working with HC plants. A control challenge was performed in two cases with iceberg lettuce causing no symptoms...
August 1, 2017: Occupational Medicine
https://www.readbyqxmd.com/read/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#4
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28892218/quality-of-erections-by-age-group-in-men-with-erectile-dysfunction
#5
Jed C Kaminetsky, Vera Stecher, Li-Jung Tseng
AIMS: The aim of this study was to assess erection quality with sildenafil vs placebo and adverse events (AEs) according to age (≤45, 46-55 and ≥56 years) in 997 men with erectile dysfunction (ED) using pooled data from four randomized, double-blind, placebo-controlled, flexible-dose trials. METHODS: The trials included 6- to 10-week treatment periods. The starting sildenafil dose was 50 mg, taken ~1 hour before sexual activity but not more than once daily, with subsequent adjustment to 100 or 25 mg based on efficacy and safety...
September 11, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28790179/high-prevalence-of-ccdc103-p-his154pro-mutation-causing-primary-ciliary-dyskinesia-disrupts-protein-oligomerisation-and-is-associated-with-normal-diagnostic-investigations
#6
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Jane Hayward, Juliet Scully, Mahmoud R Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S Patel-King, Andrew V Rogers, Andrew Rutman, Claire L Jackson, Patricia Goggin, Bruna Rubbo, Sarah Ollosson, Siobhán Carr, Woolf Walker, Beryl Adler, Michael R Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, Christopher Boustred, Lucy Jenkins, Eamonn Sheridan, Eddie M K Chung, Christopher M Watson, Thomas Cullup, Jane S Lucas, Priti Kenia, Christopher O'Callaghan, Stephen M King, Claire Hogg, Hannah M Mitchison
RATIONALE: Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic tests can be equivocal. OBJECTIVES: To determine the importance of genetic screening for primary ciliary dyskinesia in a UK South Asian population with a typical clinical phenotype, where standard testing is inconclusive...
August 8, 2017: Thorax
https://www.readbyqxmd.com/read/28783864/nasal-nitric-oxide-measurement-and-a-modified-picadar-score-for-the-screening-of-primary-ciliary-dyskinesia-in-adults-with-bronchiectasis
#7
J Rademacher, A Buck, N Schwerk, M Price, J Fuge, T Welte, F C Ringshausen
Background Determining the underlying diagnosis is essential for the targeted and specific treatment of bronchiectasis. Primary ciliary dyskinesia (PCD) is a rare genetic disease, which is characterized by abnormalities in ciliary structure and/or function and which may result in bronchiectasis. The disease is probably underestimated among adults with bronchiectasis due to the fact that extensive diagnostic testing is required and that the recognition of PCD is low. Objective To evaluate a feasible screening algorithm for PCD among adults with bronchiectasis...
August 2017: Pneumologie
https://www.readbyqxmd.com/read/28744267/the-staphylococcus-aureus-%C3%AE-acetolactate-synthase-als-confers-resistance-to-nitrosative-stress
#8
Sandra M Carvalho, Anne de Jong, Tomas G Kloosterman, Oscar P Kuipers, Lígia M Saraiva
Staphylococcus aureus is a worldwide pathogen that colonizes the human nasal cavity and is a major cause of respiratory and cutaneous infections. In the nasal cavity, S. aureus thrives with high concentrations of nitric oxide (NO) produced by the innate immune effectors and has available for growth slow-metabolizing free hexoses, such as galactose. Here, we have used deep sequencing transcriptomic analysis (RNA-Seq) and (1)H-NMR to uncover how S. aureus grown on galactose, a major carbon source present in the nasopharynx, survives the deleterious action of NO...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28737966/effect-of-obesity-on-sinonasal-disease-in-asthma
#9
S Kanagalingam, S S Shehab, D A Kaminsky, R A Wise, J E Lang, A E Dixon
OBJECTIVE: Sinonasal disease can contribute to poor asthma control. There are reports that link obesity with an increased prevalence of sinonasal disease, but no studies evaluating the severity of sinonasal disease in obese asthmatics, and how this impacts asthma control. The purpose of the current study was to determine if obesity is associated with increased severity of sinonasal disease, and/or affects response to nasal corticosteroid treatment in asthma. METHODS: This study included 236 adults participating in a 24-week randomized, double-masked, placebo-controlled study of nasal mometasone for the treatment of poorly controlled asthma...
July 24, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/28670247/differential-expression-of-tumor-necrosis-factor-%C3%AE-interleukin-1%C3%AE-nuclear-factor-%C3%AE%C2%BAb-in-nasal-mucosa-among-chronic-rhinosinusitis-patients-with-and-without-polyps
#10
Danuta Plewka, Alicja Grzanka, Elzbieta Drzewiecka, Andrzej Plewka, Maciej Misiołek, Grażyna Lisowska, Beata Rostkowska-Nadolska, Radoslaw Gawlik
INTRODUCTION: The pathogenesis of nasal polyps is still not fully understood. AIM: To analyze the topography and intensity of interleukin 1β (IL-1β), tumor necrosis factor α (TNF-α), cyclooxygenase 2 (COX-2), nitric oxide synthase 2 (NOS-2), and nuclear factor-κB (NF-κB) expressions in eosinophilic and neutrophilic polyps and in normal nasal mucosa. MATERIAL AND METHODS: The study included specimens from 20 patients with eosinophilic polyps (more than 10% of eosinophils in inflammatory infiltrate), 20 individuals with neutrophilic polyps (predominance of neutrophils and less than 10% of eosinophils), and samples of normal nasal mucosa from 10 controls...
June 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28649564/primary-ciliary-dyskinesia-an-update-on-clinical-aspects-genetics-diagnosis-and-future-treatment-strategies
#11
REVIEW
Virginia Mirra, Claudius Werner, Francesca Santamaria
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28579561/normal-values-of-offline-exhaled-and-nasal-nitric-oxide-in-healthy-children-and-teens-using-chemiluminescence
#12
Awen Menou, Diane Babeanu, Henry-Nicolas Paruit, Aline Ordureau, Sophie Guillard, Arnaud Christian Chambellan
Nitric oxide (NO) can be used to detect respiratory or ciliary diseases. Fractional exhaled nitric oxide (FeNO) measurement can reflect ongoing eosinophilic airway inflammation and has a diagnostic utility as a test for asthma screening and follow-up while nasal nitric oxide (nNO) is a valuable screening tool for the diagnosis of Primary Ciliary Dyskinesia (PCD). The possibility to collect airway gas samples in an offline manner offers the advantage to extend these measures and improve the screening and management of these diseases, but normal values from healthy children and teens remain sparse...
June 5, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28513250/combined-measurements-of-fractional-exhaled-nitric-oxide-and-nasal-nitric-oxide-levels-for-assessing-upper-airway-diseases-in-asthmatic-patients
#13
Takamitsu Asano, Masaya Takemura, Yoshihiro Kanemitsu, Makoto Yokota, Kensuke Fukumitsu, Norihisa Takeda, Hiroya Ichikawa, Hisatoshi Hijikata, Takehiro Uemura, Osamu Takakuwa, Hirotsugu Ohkubo, Ken Maeno, Yutaka Ito, Tetsuya Oguri, Atsushi Nakamura, Yumi Maki, Yoshihisa Nakamura, Motohiko Suzuki, Akio Niimi
BACKGROUND: Despite the close linkage between rhinitis, chronic rhinosinusitis (CRS) and asthma, relevant biomarkers of both upper and lower airway inflammation are rare. METHODS: Patients with asthma (without upper airway disease [UAD; n = 24], with rhinitis [n = 25], CRS [n = 24], and nasal polyps [n = 2]), isolated rhinitis (n = 13), isolated CRS (n = 13), and 10 healthy controls were prospectively recruited. Fractional exhaled nitric oxide (NO) levels at 50 mL/s (FeNO50), nasal NO levels, Lund-Macay-scores of sinus computed tomography and an asthma control questionnaire (ACQ) were evaluated...
May 17, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/28501546/diagnosis-of-primary-ciliary-dyskinesia-when-and-how
#14
J-J Braun, N Boehm, C Metz-Favre, I Koscinski, M Teletin, C Debry
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD...
May 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28497918/allergic-rhinitis-in-preschool-children-and-the-clinical-utility-of-feno
#15
Jisun Yoon, Yean Jung Choi, Eun Lee, Hyun Ju Cho, Song I Yang, Young Ho Kim, Young Ho Jung, Ju Hee Seo, Ji Won Kwon, Hyo Bin Kim, So Yeon Lee, Bong Seong Kim, Jung Yeon Shim, Eun Jin Kim, Joo Shil Lee, Soo Jong Hong
PURPOSE: The nature of allergic rhinitis (AR) in preschool aged children remains incompletely characterized. This study aimed to investigate the prevalence of AR and its associated risk factors in preschool-aged children and to assess the clinical utility of fractional exhaled nitric oxide (FeNO). METHODS: This general population-based, cross-sectional survey included 933 preschool-aged (3- to 7-year-old) children from Korea. Current AR was defined as having nasal symptoms within the last 12 months and physician-diagnosed AR...
July 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28495666/how-to-use-nasal-nitric-oxide-in-a-child-with-suspected-primary-ciliary-dyskinesia
#16
Kim Simpson, Malcolm Brodlie
Measuring nasal nitric oxide (nNO) is increasingly used as part of testing for primary ciliary dyskinesia (PCD). The diagnosis of PCD is often delayed until after bronchiectasis is established and auditory damage has occurred. It is important that all paediatricians are aware of clinical features that are suggestive of PCD that should prompt diagnostic testing. nNO levels are recognised to be low in people with PCD and results generated by static chemiluminescence analysers using velum closure technique in older children have good sensitivity and specificity...
May 11, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28481653/accuracy-of-nasal-nitric-oxide-measurement-as-a-diagnostic-test-for-primary-ciliary-dyskinesia-a-systematic-review-and-meta-analysis
#17
Adam J Shapiro, Maureen Josephson, Margaret Rosenfeld, Ozge Yilmaz, Stephanie D Davis, Deepika Polineni, Elena Guadagno, Margaret W Leigh, Valery Lavergne
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disorder causing chronic otosinopulmonary disease, generally diagnosed through evaluation of respiratory ciliary ultrastructure and/or genetic testing. Nasal nitric oxide (nNO) measurement is used as a PCD screening test because patients with PCD have low nNO levels, but its value as a diagnostic test remains unknown. OBJECTIVES: To perform a systematic review to assess the utility of nNO measurement (index test) as a diagnostic tool compared with the reference standard of electron microscopy (EM) evaluation of ciliary defects and/or detection of biallelic mutations in PCD genes...
July 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28470140/temporal-structure-function-variation-in-cultured-differentiated-human-nasal-epithelium-associated-with-acute-single-exposure-to-tobacco-smoke-or-e-cigarette-vapor
#18
Johnny L Carson, Laura Zhou, Luisa Brighton, Katherine H Mills, Haibo Zhou, Ilona Jaspers, Milan Hazucha
OBJECTIVE: Mucociliary clearance sustains a baseline functionality and an "on demand" capability to upregulate clearance upon irritant exposure involving mucus hypersecretion and accelerated ciliary beat frequency (CBF) modulated by nitric oxide (NO). This study characterized these elements as well as cellular and exogenous NO concentrations subsequent to a single exposure to tobacco smoke (TS) or e-cigarette vapor (EV) on cultured human airway epithelium. MATERIALS AND METHODS: Air-liquid interface (ALI) airway epithelial cultures per nonsmoking human subjects were subjected to single TS or EV exposures...
February 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/28464955/il-5-and-il-6-are-increased-in-the-frontal-recess-of-eosinophilic-chronic-rhinosinusitis-patients
#19
Kazunori Kubota, Sachio Takeno, Takayuki Taruya, Atsushi Sasaki, Takashi Ishino, Katsuhiro Hirakawa
BACKGROUND: Eosinophilic chronic frontal sinusitis is difficult to treat compared with non-eosinophilic sinusitis because of recurring inflammation and polyp formation in the frontal recess after the post-operative follow-up period. Studying inflammatory mediators in the frontal recess of eosinophilic chronic rhinosinusitis (ECRS) patients and non-eosinophilic chronic rhinosinusitis (non-ECRS) patients may lead to a better understanding of the pathogenesis of chronic frontal sinusitis...
May 2, 2017: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28405893/airway-and-blood-inflammatory-markers-in-waste-collectors
#20
M Raulf, V van Kampen, H D Neumann, V Liebers, A Deckert, T Brüning, J Bünger, F Hoffmeyer
Waste collectors are exposed to a heterogeneous mixture of bioaerosols able to induce health effects. The study aim was to evaluate inflammatory processes in blood and in the respiratory tract via analysis of atopy and club cell secretory protein 16 (CC16) in serum, exhaled nitric oxide (FeNO), and cellular and soluble mediators in nasal lavage fluid (NALF) and induced sputum (IS). Sixty nine current waste collectors (48% smokers) and 28 former waste collectors (25% smokers) were included in the cross-sectional study...
April 13, 2017: Advances in Experimental Medicine and Biology
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