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https://www.readbyqxmd.com/read/27922232/changing-epidemiology-of-non-cystic-fibrosis-bronchiectasis
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27898033/towards-clinical-application-of-neurotrophic-factors-to-the-auditory-nerve-assessment-of-safety-and-efficacy-by-a-systematic-review-of-neurotrophic-treatments-in-humans
#5
REVIEW
Aren Bezdjian, Véronique J C Kraaijenga, Dyan Ramekers, Huib Versnel, Hans G X M Thomeer, Sjaak F L Klis, Wilko Grolman
Animal studies have evidenced protection of the auditory nerve by exogenous neurotrophic factors. In order to assess clinical applicability of neurotrophic treatment of the auditory nerve, the safety and efficacy of neurotrophic therapies in various human disorders were systematically reviewed. Outcomes of our literature search included disorder, neurotrophic factor, administration route, therapeutic outcome, and adverse event. From 2103 articles retrieved, 20 randomized controlled trials including 3974 patients were selected...
November 26, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27896060/diffuse-bronchiectasis-as-the-primary-manifestation-of-endobronchial-sarcoidosis
#6
Paul D Hiles, Kenneth R Kemp, Jean M Coviello
Sarcoidosis is an idiopathic disease that most commonly involves the lungs and is characterized by granulomatous inflammation. Bronchiectasis is one pulmonary manifestation of sarcoidosis, although it is almost always observed as traction bronchiectasis in the setting of fibrotic lung disease. A 50-year-old woman was evaluated for chronic cough and bronchiectasis with a small amount of peripheral upper lobe honeycombing and no significant pulmonary fibrosis or lymphadenopathy. After an extensive laboratory and imaging evaluation did not identify a cause of her bronchiectasis, bronchoscopy was performed to assess for primary ciliary dyskinesia and revealed a diffuse cobblestone appearance of the airway mucosa...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27894999/matched-comparative-modeling-of-normal-and-diseased-human-airway-responses-using-a-microengineered-breathing-lung-chip
#7
Kambez H Benam, Richard Novak, Janna Nawroth, Mariko Hirano-Kobayashi, Thomas C Ferrante, Youngjae Choe, Rachelle Prantil-Baun, James C Weaver, Anthony Bahinski, Kevin K Parker, Donald E Ingber
Smoking represents a major risk factor for chronic obstructive pulmonary disease (COPD), but it is difficult to characterize smoke-induced injury responses under physiological breathing conditions in humans due to patient-to-patient variability. Here, we show that a small airway-on-a-chip device lined by living human bronchiolar epithelium from normal or COPD patients can be connected to an instrument that "breathes" whole cigarette smoke in and out of the chips to study smoke-induced pathophysiology in vitro...
November 23, 2016: Cell Systems
https://www.readbyqxmd.com/read/27894351/characterizing-the-morbid-genome-of-ciliopathies
#8
Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A Aldahmesh, Anas M Alazami, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al-Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V Logan, David A Parry, Nada Al Tassan, Dorota Monies, Andre Megarbane, Mohamed Abouelhoda, Anason Halees, Colin A Johnson, Fowzan S Alkuraya
BACKGROUND: Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. RESULTS: We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum...
November 28, 2016: Genome Biology
https://www.readbyqxmd.com/read/27889361/adult-bronchiectasis-patients-a-first-look-at-the-united-states-bronchiectasis-research-registry
#9
Timothy R Aksamit, Anne E O'Donnell, Alan Barker, Kenneth N Olivier, Kevin L Winthrop, M Leigh Anne Daniels, Margaret Johnson, Edward Eden, David Griffith, Michael Knowles, Mark Metersky, Matthias Salathe, Byron Thomashow, Gregory Tino, Gerard Turino, Betsy Carretta, Charles L Daley
OBJECTIVE: We sought to describe the characteristics of adult bronchiectasis patients enrolled in the United States Bronchiectasis Research Registry (BRR). METHODS: The BRR is a database of non-cystic fibrosis bronchiectasis (NCFB) patients enrolled at 13 sites within the United States. Baseline demographic, spirometric, imaging, microbiologic, and therapeutic data were entered into a central web-based database. Patients were subsequently analyzed by the presence NTM...
November 23, 2016: Chest
https://www.readbyqxmd.com/read/27882921/a-mutation-in-vps15-pik3r4-causes-a-ciliopathy-and-affects-ift20-release-from-the-cis-golgi
#10
Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts, as well as ciliary processes in zebrafish. Furthermore, we demonstrate its interaction with the golgin GM130 and its localization to the Golgi. The VPS15-R998Q patient mutation impairs Golgi trafficking functions in humanized yeast cells...
November 24, 2016: Nature Communications
https://www.readbyqxmd.com/read/27881662/the-polycystins-are-modulated-by-cellular-oxygen-sensing-pathways-and-regulate-mitochondrial-function
#11
Valeria Padovano, Ivana Y Kuo, Lindsey K Stavola, Hans R Aerni, Benjamin J Flaherty, Hannah C Chapin, Ming Ma, Stefan Somlo, Alessandra Boletta, Barbara E Ehrlich, Jesse Rinehart, Michael J Caplan
Autosomal dominant polycystic kidney disease is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2), which form an ion channel complex that may mediate ciliary sensory processes and regulate endoplasmic reticulum Ca(2+) release. Loss of PC1 expression profoundly alters cellular energy metabolism. The mechanisms that control the trafficking of PC1 and PC2 as well as their broader physiological roles remain poorly understood. We found that O2 levels regulate the subcellular localization and the channel activity of the polycystin complex through its interaction with the O2-sensing prolyl hydroxylase domain containing protein EGLN3 (or PHD3), which hydroxylates PC1...
November 23, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27878633/cardiopulmonary-exercise-testing-in-fontan-patients-with-and-without-isomerism-heterotaxy-as-compared-to-patients-with-primary-ciliary-dyskinesia-and-subjects-with-structurally-normal-hearts
#12
Rohit S Loomba, Michael Danduran, Kim G Nielsen, Astrid M Ring, Joshua Kovach, Robert H Anderson
Isomerism, also known as heterotaxy, is a clinical entity that impacts multiple organ systems both anatomically and functionally. The airways and lungs are involved in a great number of these patients, leading to increased sinopulmonary symptoms, increased need for oxygenation, and increased postoperative ventilatory support. Additionally, these patients often have congenital heart disease requiring Fontan palliation. What has not been previously described, and is the focus of this study, is the results of cardiopulmonary exercise testing in those who have undergone Fontan palliation with and without isomerism...
November 23, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27878586/-parainfectious-optic-neuritis-with-macular-infiltrate-in-neisseria-meningitidis-b-meningitis
#13
A Chronopoulos, F Hoogewoud, H Steffen, G Thumann
OBJECTIVE: We report on the case of a young immunocompetent female patient with parainfectious optic neuritis and macular inflitrate due to Neisseria meningitidis B meningitis. METHOD: Case report RESULTS: A 22-year-old female patient was admitted to the emergency department for intensive care treatment with a strong suspicion of meningitis. Clinical and serological parameters were indicative of a bacterial genesis of the meningitis. By analysis of the cerebrospinal fluid (CSF) Neisseria meningitidis type B could be detected...
November 23, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27876739/-the-state-of-the-nasal-mucosa-and-the-paranasal-sinuses-in-the-late-postoperative-period-following-radical-and-minimally-invasive-surgery
#14
M M Magomedov, D F Zeinalova, D V Andriyashkin, N M Magomedova, A E Starostina, M V Zvereva
We have investigated the functional state of the mucous membrane of the nasal cavity and maxillary sinus after radical and minimally invasive surgical procedures during the log-term postoperative period, i.e. three and more months after the intervention. The materials for the study were brushings and histological biopsies; in addition, the functional parameters of the mucous membranes of the nose and maxillary sinuses were estimated before and after surgery. It has been found that the type of the surgical intervention on the inferior turbinate bones for the treatment of chronic rhinitis, such as gentle turbinotomy, has no significant influence on the state of the mucous membrane...
2016: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/27864663/mesenchymal-stem-cells-attenuate-hydrogen-peroxide-induced-oxidative-stress-and-enhance-neuroprotective-effects-in-retinal-ganglion-cells
#15
Yi Cui, Nuo Xu, Wei Xu, Guoxing Xu
The apoptosis of retinal ganglion cells leads to visual impairment and blindness in ocular neurodegenerative diseases, especially in diabetic retinopathy (DR). Mounting evidence suggests that oxidative stress contributes to the pathogenesis of DR. In the present study, we investigated whether bone mesenchymal stem cells (BMSCs) have protective ability to relieve hydrogen peroxide (H2O2)-induced injury on retinal ganglion cells in vitro. An immortalized retinal ganglion cells, RGC-5 cells, were exposed to an indicated concentration of H2O2 for 24 h...
November 18, 2016: In Vitro Cellular & Developmental Biology. Animal
https://www.readbyqxmd.com/read/27859258/motile-and-non-motile-cilia-in-human-pathology-from-function-to-phenotypes
#16
REVIEW
Hannah M Mitchison, Enza Maria Valente
Ciliopathies are inherited human disorders caused by both motile and non-motile cilia dysfunction that form an important and rapidly expanding disease category. Ciliopathies are complex conditions to diagnose, being multisystem disorders characterised by extensive genetic heterogeneity and clinical variability with high levels of lethality. There is marked phenotypic overlap among distinct ciliopathy syndromes that presents a major challenge for their recognition, diagnosis, clinical management, in addition to posing an on-going task to develop the most appropriate family counselling...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27845721/airway-epithelial-cell-cilia-and-obstructive-lung-disease
#17
REVIEW
Asma Yaghi, Myrna B Dolovich
Airway epithelium is the first line of defense against exposure of the airway and lung to various inflammatory stimuli. Ciliary beating of airway epithelial cells constitutes an important part of the mucociliary transport apparatus. To be effective in transporting secretions out of the lung, the mucociliary transport apparatus must exhibit a cohesive beating of all ciliated epithelial cells that line the upper and lower respiratory tract. Cilia function can be modulated by exposures to endogenous and exogenous factors and by the viscosity of the mucus lining the epithelium...
November 11, 2016: Cells
https://www.readbyqxmd.com/read/27812213/hif-stabilization-weakens-primary-cilia
#18
Andrew Resnick
Although solitary or sensory cilia are present in most cells of the body and their existence has been known since the sixties, very little is known about their functions. One suspected function is fluid flow sensing- physical bending of cilia produces an influx of Ca++, which can then result in a variety of activated signaling pathways. Defective cilia and ciliary-associated proteins have been shown to result in cystic diseases. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a progressive disease, typically appearing in the 5th decade of life and is one of the most common monogenetic inherited human diseases, affecting approximately 600,000 people in the United States...
2016: PloS One
https://www.readbyqxmd.com/read/27800275/uveal-melanoma-current-trends-in-diagnosis-and-management
#19
REVIEW
Berçin Tarlan, Hayyam Kıratlı
Uveal melanoma, which is the most common primary intraocular malignancy in adults, arises from melanocytes within the iris, ciliary body and choroid. The diagnosis is based principally on clinical examination of the tumor with biomicroscopy and indirect ophthalmoscopy and confirmed by diagnostic techniques such as ultrasonography, fundus fluorescein angiography and optical coherence tomography. The clinical diagnosis of posterior uveal melanomas can be made when the classical appearance of a pigmented dome-shaped mass is detected on dilated fundus exam...
June 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/27799912/understanding-mechanisms-of-gli-mediated-transcription-during-craniofacial-development-and-disease-using-the-ciliopathic-mutant-talpid-2
#20
Ya-Ting Chang, Praneet Chaturvedi, Elizabeth N Schock, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based organelle that cells utilize to transduce molecular signals. Ciliopathies are a group of diseases that are caused by a disruption in the structure or function of the primary cilium. Over 30% of all ciliopathies are primarily defined by their craniofacial phenotypes, which typically include midfacial defects, cleft lip/palate, micrognathia, aglossia, and craniosynostosis. The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex...
2016: Frontiers in Physiology
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