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https://www.readbyqxmd.com/read/28636126/bilateral-diffuse-uveal-melanocytic-proliferation-case-report-and-literature-review
#1
REVIEW
Kristian Klemp, Jens Folke Kiilgaard, Steffen Heegaard, Tove Nørgaard, Mette Klarskov Andersen, Jan Ulrik Prause
Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid cataract formation and uveal melanocytic tumours. The awareness and documentation of BDUMP has increased during the past decade, and the increasing amount of data collected demonstrates the effect of treatment with plasmapheresis and the value of diagnostic tools in BDUMP such as genetic and immunologic investigations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28632458/aquaporins-novel-targets-for-age-related-ocular-disorders
#2
Rajkumar Patil, Haishan Wang, Najam A Sharif, Alok Mitra
Aquaporins (AQPs), a large family of membrane protein channels that facilitate transport of water and other small solutes, play important roles in physiological functions and human diseases. Up till now, 13 types of AQPs, numbered 0 through 12, have been identified in various mammalian tissues. Homologous genes for AQPs in amphibians, insects, and bacteria highlight the evolutionary conservation and, thus, the importance of these membrane channels. Many members of the AQP family are expressed in the eye. AQP1, which is a water-selective channel, is expressed in the anterior chamber (cornea, ciliary body, trabecular meshwork) and posterior chamber (retina and microvessels in choroid), controlling the fluid homeostasis in the eye...
June 20, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28625917/the-cholangiocyte-primary-cilium-in-health-and-disease
#3
REVIEW
Adrian P Mansini, Estanislao Peixoto, Kristen M Thelen, Cesar Gaspari, Sujeong Jin, Sergio A Gradilone
Cholangiocytes, like most cells, express primary cilia extending from their membranes. These organelles function as antennae which detect stimuli from bile and transmit the information into cells regulating several signaling pathways involved in secretion, proliferation and apoptosis. The ability of primary cilia to detect different signals is provided by ciliary associated proteins which are expressed in its membrane. Defects in the structure and/or function of these organelles lead to cholangiociliopathies that result in cholangiocyte hyperproliferation, altered fluid secretion and absorption...
June 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#4
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28620096/interleukin-6-family-cytokines
#5
Stefan Rose-John
The interleukin (IL)-6 family cytokines is a group of cytokines consisting of IL-6, IL-11, ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), oncostatin M (OSM), cardiotrophin 1 (CT-1), cardiotrophin-like cytokine (CLC), and IL-27. They are grouped into one family because the receptor complex of each cytokine contains two (IL-6 and IL-11) or one molecule (all others cytokines) of the signaling receptor subunit gp130. IL-6 family cytokines have overlapping but also distinct biologic activities and are involved among others in the regulation of the hepatic acute phase reaction, in B-cell stimulation, in the regulation of the balance between regulatory and effector T cells, in metabolic regulation, and in many neural functions...
June 15, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28596950/review-quality-of-life-in-children-with-non-cystic-fibrosis-bronchiectasis
#6
REVIEW
Anna Marie Nathan, Jessie Anne de Bruyne, Kah Peng Eg, Surendran Thavagnanam
Non-cystic fibrosis bronchiectasis (NCFB) has gained renewed interest, due to its increasing health-care burden. Annual mortality statistics in England and Wales showed that under 1,000 people die from bronchiectasis each year, and this number is increasing by 3% yearly. Unfortunately, there is a severe lack of well-powered, randomized controlled trials to guide clinicians how to manage NCFB effectively. Quality-of-life (QOL) measures in NCFB are an important aspect of clinical care that has not been studied well...
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
#7
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/28552099/bacteriology-and-treatment-of-infections-in-the-upper-and-lower-airways-in-patients-with-primary-ciliary-dyskinesia-adressing-the-paranasal-sinuses
#8
Mikkel Christian Alanin
The respiratory tract is lined with motile cilia that transport respiratory mucus. Primary ciliary dyskinesia (PCD) is a chronic genetic disease caused by mutations in genes responsible for ciliary structure and function. Non-functional airway cilia impair the mucociliary clearance (MCC), causing mucostasis, lung infections and destruction, chronic rhinosinusitis (CRS) and hearing impairment. It is of paramount importance to postpone chronic lung infection mainly with Gram-negative bacteria (GNB) in patients with an impaired MCC...
May 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28544585/effects-of-ophthalmologic-solutions-on-sinonasal-ciliated-epithelium
#9
Alan D Workman, Ryan M Carey, Michael A Kohanski, Nithin D Adappa, James N Palmer, Noam A Cohen
BACKGROUND: Off-label use of topical ophthalmologic formulations for treatment of rhinologic disease is cited in recent literature and is anecdotally prevalent among practicing otolaryngologists. Steroids, antibiotics, and other drugs designed for ocular use have subjective clinical efficacy in the nose and sinuses, but their specific effects on the ciliated epithelium are less well defined. This study examines 9 commercially available ophthalmologic drug formulations for effects on ciliary motility in sinonasal cultures, in an effort to characterize their utility as topical therapies for sinonasal diseases...
May 23, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28541963/correlation-of-structural-and-functional-outcome-measures-in-a-phase-one-trial-of-ciliary-neurotrophic-factor-in-type-2-idiopathic-macular-telangiectasia
#10
Ferenc B Sallo, Irene Leung, Traci E Clemons, Tunde Peto, Emily Y Chew, Daniel Pauleikhoff, Alan C Bird
PURPOSE: Macular telangiectasia Type 2 is a bilateral, progressive, potentially blinding retinal disease characterized by both vascular and neurodegenerative signs. Both the area of the break in the ellipsoid zone seen in "en face" optical coherence tomographic (OCT) images and microperimetric focal retinal sensitivity loss have been proposed as potential measures of progression in macular telangiectasia. The authors aimed to assess the characteristics and interrelationship of these structural and functional disease markers from the data collected in a phase one clinical trial of ciliary neurotrophic factor in macular telangiectasia...
May 23, 2017: Retina
https://www.readbyqxmd.com/read/28530676/mutations-in-dzip1l-which-encodes-a-ciliary-transition-zone-protein-cause-autosomal-recessive-polycystic-kidney-disease
#11
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28529994/rapamycin-increases-length-and-mechanosensory-function-of-primary-cilia-in-renal-epithelial-and-vascular-endothelial-cells
#12
Rinzhin T Sherpa, Kimberly F Atkinson, Viviana P Ferreira, Surya M Nauli
Primary cilia arebiophysically-sensitive organelles responsible for sensing fluid-flow and transducing this stimulus into intracellular responses. Previous studies have shown that the primary cilia mediate flow-induced calcium influx, and sensitivity of cilia function to flow is correlated to cilia length. Cells with abnormal cilia length or function can lead to a host of diseases that are collectively termed as ciliopathies. Rapamycin, a potent inhibitor of mTOR (mammalian target of rapamycin), has been demonstrated to be a potential pharmacological agent against the aberrant mTOR signaling seen in ciliopathies such as polycystic kidney disease (PKD) and tuberous sclerosis complex (TSC)...
December 2016: International education and research journal
https://www.readbyqxmd.com/read/28523001/the-role-of-transient-receptor-potential-vanilloid-4-in-pulmonary-inflammatory-diseases
#13
REVIEW
Rachel G Scheraga, Brian D Southern, Lisa M Grove, Mitchell A Olman
Ion channels/pumps are essential regulators of organ homeostasis and disease. In the present review, we discuss the role of the mechanosensitive cation channel, transient receptor potential vanilloid 4 (TRPV4), in cytokine secretion and pulmonary inflammatory diseases such as asthma, cystic fibrosis (CF), and acute lung injury/acute respiratory distress syndrome (ARDS). TRPV4 has been shown to play a role in lung diseases associated with lung parenchymal stretch or stiffness. TRPV4 indirectly mediates hypotonicity-induced smooth muscle contraction and airway remodeling in asthma...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28522413/microglia-support-atf3-positive-neurons-following-hypoglossal-nerve-axotomy
#14
Tatsuhide Tanaka, Koichi Murakami, Yoshio Bando, Taichi Nomura, Ayami Isonishi, Shoko Morita-Takemura, Kouko Tatsumi, Akio Wanaka, Shigetaka Yoshida
Microglia are essential in developmental processes and maintenance of neuronal homeostasis. Experimental axotomy of motor neurons results in neurodegeneration, and microglia in motor nuclei become activated and migrate towards injured neurons. However, whether these activated microglia are protective or destructive to neurons remains controversial. In the present study, we transected the hypoglossal nerve in BALB/c mice, causing activating transcription factor 3 (ATF3) and growth associated protein 43 (GAP43) induction, and partial neuronal death...
May 15, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28520637/clinical-experience-of-stereotactic-radiosurgery-at-a-linear-accelerator-for-intraocular-melanoma
#15
Alena Furdova, Miron Sramka, Martin Chorvath, Gabriel Kralik, Robert Furda, Michal Gregus
Long-term results with linear accelerator LINAC-based stereotactic radiosurgery for intraocular uveal malignant melanoma were assessed. A retrospective study was carried out of patients with uveal melanoma after a 1-day session stereotactic radiosurgery at LINAC in Slovakia. In the period 2001-2015, a group of 150 patients with uveal melanoma (139 choroidal melanoma, 11 ciliary body melanoma) was treated. The median tumor volume at baseline was 0.5 cm (with range from 0.2 to 1.6 cm). Tumors ranged in size from 2...
May 17, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28504201/cilia-the-sensory-antennae-in-the-eye
#16
REVIEW
Helen May-Simera, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Cilia are hair-like projections found on almost all cells in the human body. Originally believed to function merely in motility, the function of solitary non-motile (primary) cilia was long overlooked. Recent research has demonstrated that primary cilia function as signalling hubs that sense environmental cues and are pivotal for organ development and function, tissue hoemoestasis, and maintenance of human health. Cilia share a common anatomy and their diverse functional features are achieved by evolutionarily conserved functional modules, organized into sub-compartments...
May 11, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28495528/hepatic-ischemia-reperfusion-injury-disrupts-the-homeostasis-of-kidney-primary-cilia-via-oxidative-stress
#17
Sang Jun Han, Hee-Seong Jang, Sung Young Seu, Hee-Jung Cho, Yoon Jin Hwang, Jee In Kim, Kwon Moo Park
Acute kidney injury (AKI) is a major complication of hepatic surgeries. The primary cilium protrudes to the lumen of kidney tubules and plays an important role in renal functions. Disruption of primary cilia homeostasis is highly associated with human diseases including AKI. Here, we investigated whether transient hepatic ischemia induces length change and deciliation of kidney primary cilia, and if so, whether reactive oxygen species (ROS)/oxidative stress regulates those. HIR induced damages to the liver and kidney with increases in ROS/oxidative stress...
July 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28494707/histologic-and-ultrastructural-findings-in-dogs-with-chronic-respiratory-disease-suspected-of-ciliary-dyskinesia
#18
Ileana C Miranda, Jennifer L Granick, Anibal G Armién
Mucociliary clearance is a main defense mechanism of the respiratory tract, which can be inherently impaired in primary ciliary dyskinesia (PCD) or reversibly altered in secondary ciliary dyskinesia (SCD). Limited diagnostic test availability likely leads to misdiagnosis or underdiagnosis of PCD in animals. This study evaluated the light and transmission electron microscopy (TEM) changes in the respiratory mucosa of 15 dogs with chronic respiratory disease suspected of PCD. Necropsy was performed in 1 case and 2 dogs were used as negative controls...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28494163/expression-of-14-3-3-zeta-protein-in-dexamethasone-treated-mice-and-human-tm-1-cells
#19
Qian Liu, Yiming Ye, Xianchai Lin, Yangfan Yang, Kaili Wu, Minbin Yu
PURPOSE: 14-3-3 zeta protein plays a potential protective role in neurodegenerative disease. Given that glaucoma and neurodegenerative diseases share a similar pathogenesis, it is possible that 14-3-3 zeta may have a similar protective effect in the glaucomatous process. In the present study, we measured the expression of 14-3-3 zeta in vivo (mouse eyes) and in vitro in a transformed human trabecular meshwork (HTM) cell line, TM-1, and assessed the possible roles of this protein in dexamethasone (DEX)-treated eyes and HTM cells...
May 11, 2017: Current Eye Research
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
#20
Adam J Shapiro, Maureen Josephson, Margaret Rosenfeld, Ozge Yilmaz, Stephanie D Davis, Deepika Polineni, Elena Guadagno, Margaret W Leigh, Valery Lavergne
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a rare disorder causing chronic oto-sino-pulmonary disease, generally diagnosed through evaluation of respiratory cilia ultrastructure and/or genetic testing. Nasal nitric oxide (nNO) measurement is a PCD screening test, as PCD patients have low nNO levels, but its value as a diagnostic test remains unknown. OBJECTIVE: Perform a systematic review assessing the utility of nNO measurement (index test) as a diagnostic tool compared to the reference standard of electron microscopy (EM) evaluation of ciliary defects and/or detection of biallelic mutations in PCD genes...
May 8, 2017: Annals of the American Thoracic Society
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