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Ciliary disease

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https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#1
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28096734/chest-ct-features-of-cystic-fibrosis-in-korea-comparison-with-non-cystic-fibrosis-diseases
#2
So Yeon Yang, Kyung Soo Lee, Min Jae Cha, Tae Jung Kim, Tae Sung Kim, Hyun Jung Yoon
OBJECTIVE: Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. MATERIALS AND METHODS: From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study...
January 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28096286/diagnosis-of-primary-ciliary-dyskinesia-potential-options-for-resource-limited-countries
#3
REVIEW
Nisreen Rumman, Claire Jackson, Samuel Collins, Patricia Goggin, Janice Coles, Jane S Lucas
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28095645/what-we-can-learn-from-a-tadpole-about-ciliopathies-and-airway-diseases-using-systems-biology-in-xenopus-to-study-cilia-and-mucociliary-epithelia
#4
REVIEW
Peter Walentek, Ian K Quigley
Over the past years, the Xenopus embryo has emerged as an incredibly useful model organism for studying the formation and function of cilia and ciliated epithelia in vivo. This has led to a variety of findings elucidating the molecular mechanisms of ciliated cell specification, basal body biogenesis, cilia assembly and ciliary motility. These findings also revealed the deep functional conservation of signaling, transcriptional, post-transcriptional and protein networks employed in the formation and function of vertebrate ciliated cells...
January 17, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28095050/the-expressions-of-klotho-family-genes-in-human-ocular-tissues-and-in-anterior-lens-capsules-of-age-related-cataract
#5
Yu Zhang, Liya Wang, Zhong Wu, Xiaolin Yu, Xiaofeng Du, Xiaohua Li
PURPOSE: Klotho genes are expressed in limited tissues and have been found to be a pathogenic factor of age-related diseases in mammals, but their expressions and functions in human eyes are yet to be defined. This study was performed to investigate the expression of Klotho family genes in human ocular tissues and anterior lens capsules of age-related cataract. METHODS: Individual tissues were isolated from human eyeballs collected from Henan Eye Bank. Human anterior lens capsules were collected from cortical cataract patients during phacoemulsification with the informed consent...
January 17, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28070965/the-consequences-of-avian-ocular-trauma-histopathological-evidence-and-implications-of-acute-and-chronic-disease
#6
Bret A Moore, Leandro B C Teixeira, William E Sponsel, Richard R Dubielzig
OBJECTIVE: To present a description and categorization of the histopathological lesions in avian ocular trauma. ANIMAL STUDIED: Seventy-five birds diagnosed with ocular trauma at to the Comparative Ocular Pathology Laboratory of Wisconsin. PROCEDURES: Histological slides were reviewed, and the type of trauma was classified by cause into either (i) blunt trauma or (ii) penetrating trauma and by duration into (i) acute or (ii) chronic. RESULTS: Blunt trauma was the most common source of trauma, and the most frequent lesions were observed in the retina (91%), with 71% of retinas having a tear or detachment and 46% of retinas showing chronic degenerative changes...
January 10, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/28062565/the-biology-of-ciliary-dynamics
#7
Kuo-Shun Hsu, Jen-Zen Chuang, Ching-Hwa Sung
The cilium is an evolutionally conserved apical membrane protrusion that senses and transduces diverse signals to regulate a wide range of cellular activities. The cilium is dynamic in length, structure, and protein composition. Dysregulation of ciliary dynamics has been linked with ciliopathies and other human diseases. The cilium undergoes cell-cycle-dependent assembly and disassembly, with ciliary resorption linked with G1-S transition and cell-fate choice. In the resting cell, the cilium remains sensitive to environmental cues for remodeling during tissue homeostasis and repair...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28052961/the-time-is-right-for-an-international-primary-ciliary-dyskinesia-disease-registry
#8
EDITORIAL
Kenan Haver
No abstract text is available yet for this article.
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28052956/the-international-primary-ciliary-dyskinesia-cohort-ipcd-cohort-methods-and-first-results
#9
Myrofora Goutaki, Elisabeth Maurer, Florian S Halbeisen, Israel Amirav, Angelo Barbato, Laura Behan, Mieke Boon, Carmen Casaulta, Annick Clement, Suzanne Crowley, Eric Haarman, Claire Hogg, Bulent Karadag, Cordula Koerner-Rettberg, Margaret W Leigh, Michael R Loebinger, Henryk Mazurek, Lucy Morgan, Kim G Nielsen, Heymut Omran, Nicolaus Schwerk, Sergio Scigliano, Claudius Werner, Panayiotis Yiallouros, Zorica Zivkovic, Jane S Lucas, Claudia E Kuehni
Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#10
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#11
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28001106/evaluation-of-potential-risk-factors-for-development-of-primary-angle-closure-glaucoma-in-bouviers-des-flandres
#12
Alexis J Dubin, Ellison Bentley, Kevin A Buhr, Paul E Miller
OBJECTIVE To evaluate potential risk factors for development of primary angle-closure glaucoma (PACG) in Bouviers des Flandres. DESIGN Prospective, observational study. ANIMALS 98 Bouviers des Flandres. PROCEDURES All dogs underwent slit-lamp biomicroscopy, indirect ophthalmoscopy, gonioscopy, applanation tonometry, streak retinoscopy, and A-scan, B-scan, and high-resolution ultrasonography. Iridocorneal angles and degree of pectinate ligament dysplasia sheeting were graded, and an angle index was mathematically derived for each eye on the basis of these values...
January 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/27994964/dendrobium-alkaloids-prevent-a%C3%AE-25-35-induced-neuronal-and-synaptic-loss-via-promoting-neurotrophic-factors-expression-in-mice
#13
Jing Nie, Yong Tian, Yu Zhang, Yan-Liu Lu, Li-Sheng Li, Jing-Shan Shi
BACKGROUND: Neuronal and synaptic loss is the most important risk factor for cognitive impairment. Inhibiting neuronal apoptosis and preventing synaptic loss are promising therapeutic approaches for Alzheimer's disease (AD). In this study, we investigate the protective effects of Dendrobium alkaloids (DNLA), a Chinese medicinal herb extract, on β-amyloid peptide segment 25-35 (Aβ25-35)-induced neuron and synaptic loss in mice. METHOD: Aβ25-35(10 µg) was injected into the bilateral ventricles of male mice followed by an oral administration of DNLA (40 mg/kg) for 19 days...
2016: PeerJ
https://www.readbyqxmd.com/read/27979861/bmi-1-extends-proliferative-potential-of-human-bronchial-epithelial-cells-whilst-retaining-their-mucociliary-differentiation-capacity
#14
Mustafa Mohamed Munye, Amelia Shoemark, Robert A Hirst, Juliette M Delhove, Tyson V Sharp, Tristan R McKay, Chistopher O'Callaghan, Deborah L Baines, Steven J Howe, Stephen L Hart
Air-liquid interface (ALI) culture of primary airway epithelial cells enables mucociliary differentiation providing an in vitro model of the human airway but their proliferative potential is limited. To extend proliferation, these cells were previously transduced with viral oncogenes or mouse Bmi-1 + hTERT but the resultant cell lines did not undergo mucociliary differentiation. We hypothesised that use of human BMI-1 alone would increase the proliferative potential of bronchial epithelial cells while retaining their mucociliary differentiation potential...
December 15, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27959848/-tubulointerstitial-nephritis-syndrome-and-uveitis
#15
Carolina A Isnardi, Andrés Vilela, Pablo Kuschner, Carolina Salvo, Cecilia Vanzetti, Hugo Zelechower, Adriana Arpa
Intermediate uveitis is described as inflammation in the anterior vitreous, ciliary body and the peripheral retina. It is a subset of uveitis where the vitreous is the major site of damage. It has been reported to be associated with many local and systemic inflammatory and infectious diseases. An infrequent cause is the tubulointerstitial nephritis and uveitis syndrome. We report a case of an acute visual acuity loss related with renal failure in a 64 years old woman with Hashimoto disease. It was an acute tubulointerstitial nephritis and uveitis syndrome case...
2016: Medicina
https://www.readbyqxmd.com/read/27933306/significant-changes-in-endogenous-retinal-gene-expression-assessed-1-year-after-a-single-intraocular-injection-of-aav-cntf-or-aav-bdnf
#16
Chrisna J LeVaillant, Anil Sharma, Jill Muhling, Lachlan Pg Wheeler, Greg S Cozens, Mats Hellström, Jennifer Rodger, Alan R Harvey
Use of viral vectors to deliver therapeutic genes to the central nervous system holds promise for the treatment of neurodegenerative diseases and neurotrauma. Adeno-associated viral (AAV) vectors encoding brain-derived neurotrophic factor (BDNF) or ciliary derived neurotrophic factor (CNTF) promote the viability and regeneration of injured adult rat retinal ganglion cells. However, these growth-inducing transgenes are driven by a constitutively active promoter, thus we examined whether long-term AAV-mediated secretion of BDNF or CNTF affected endogenous retinal gene expression...
2016: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/27922232/changing-epidemiology-of-non-cystic-fibrosis-bronchiectasis
#17
Semiha Bahçeci, Sait Karaman, Hikmet Tekin Nacaroğlu, Selçuk Yazıcı, Saniye Girit, Şule Ünsal-Karkıner, Demet Can
Non-cystic fibrosis bronchiectasis again becomes a major health problem due to inappropriate antibiotic use and increasing frequency of protracted bacterial bronchitis. The aim was to determine the changes in etiology of bronchiectasis. Patients who admitted to Behçet Uz Children Hospital between 2005 and 2015 (n=110) were retrospectively examined. The etiology of bronchiectasis was detected as; primary ciliary dyskinesia 26.4%, protracted bacterial bronchitis 22.8%, primary immune deficiency 11.8%, bronchiolitis obliterans 8...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27914762/distribution-of-the-neuro-regulatory-peptide-galanin-in-the-human-eye
#18
Alexandra Kaser-Eichberger, Andrea Trost, Clemens Strohmaier, Barbara Bogner, Christian Runge, Daniela Bruckner, Bettina Hohberger, Anselm Jünemann, Barbara Kofler, Herbert A Reitsamer, Falk Schrödl
Galanin (GAL) is a neuro-regulatory peptide involved in many physiological and pathophysiological processes. While data of GAL origin/distribution in the human eye are rather fragmentary and since recently the presence of GAL-receptors in the normal human eye has been reported, we here systematically search for sources of ocular GAL in the human eye. Human eyes (n=14) were prepared for single- and double-immunohistochemistry of GAL and neurofilaments (NF). Cross- and flat-mount sections were achieved; confocal laser-scanning microscopy was used for documentation...
November 25, 2016: Neuropeptides
https://www.readbyqxmd.com/read/27911450/uveal-melanoma-relatively-rare-but-deadly-cancer
#19
REVIEW
S Kaliki, C L Shields
Although it is a relatively rare disease, primarily found in the Caucasian population, uveal melanoma is the most common primary intraocular tumor in adults with a mean age-adjusted incidence of 5.1 cases per million per year. Tumors are located either in iris (4%), ciliary body (6%), or choroid (90%). The host susceptibility factors for uveal melanoma include fair skin, light eye color, inability to tan, ocular or oculodermal melanocytosis, cutaneous or iris or choroidal nevus, and BRCA1-associated protein 1 mutation...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27902540/macular-perivenous-retinal-whitening-and-presumed-retino-ciliary-sparing-in-a-recurrent-central-retinal-vein-occlusion-associated-with-the-antiphospholipid-syndrome-and-cryoglobulinemia
#20
Dov B Sebrow, Jesse J Jung, Jason Horowitz, Jeffrey G Odel, K Bailey Freund
PURPOSE: Macular perivenous retinal whitening results from hypoperfusion-induced ischemia of the middle retina that can occur in central retinal vein occlusion (CRVO). We describe an unusual case of recurrent CRVO with macular perivenous retinal whitening and retino-ciliary venous sparing in the setting of 2 prothrombotic diseases, antiphospholipid syndrome and Type II cryoglobulinemia. METHODS: A 50-year-old man presented with intermittent loss of vision in his right eye related to a recurrent CRVO...
November 29, 2016: Retinal Cases & Brief Reports
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