keyword
MENU ▼
Read by QxMD icon Read
search

Ciliary disease

keyword
https://www.readbyqxmd.com/read/29142760/outcomes-of-primary-endoresection-for-choroidal-melanoma
#1
Andre A C Vidoris, Andre Maia, Marcia Lowen, Melina Morales, Jordan Isenberg, Bruno F Fernandes, Rubens N Belfort
Purpose: To review long time treatment results in patients with small or medium sized choroidal melanoma who underwent surgical tumor endoresection as a primary treatment when plaque radiotherapy was unable and patients declined enucleation. Materials and methods: Patients were evaluated for best corrected visual acuity (BCVA), and underwent biomicroscopy, indirect ophthalmoscopy, retinography and ultrasound as well as the usual systemic workup. Study inclusion required the absence of scleral invasion or metastasis and an anterior margin not exceeding the pars plana or the ciliary body...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29135867/analysis-of-otologic-features-of-patients-with-primary-ciliary-dyskinesia
#2
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/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#3
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29131540/equivalence-in-outcomes-between-draf-2b-vs-draf-3-frontal-sinusotomy-for-refractory-chronic-frontal-rhinosinusitis
#4
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/29130116/hearing-loss-and-renal-syndromes
#5
Paul J Phelan, Michelle N Rheault
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems...
November 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29128821/effects-of-organic-and-inorganic-compounds-of-diesel-exhaust-particles-on-the-mucociliary-epithelium-an-experimental-study-on-the-frog-palate-preparation
#6
Sergio Henrique Kiemle Trindade, Robson Seriani, Geraldo Lorenzi-Filho, João Ferreira de Mello Júnior, Luiz Ubirajara Sennes, Paulo Hilário Nascimento Saldiva, Mariângela Macchione
The toxic actions of acute exposition to different diesel exhaust particles (DEPA) fractions on the mucociliary epithelium are not yet fully understood due to different concentrations of organic and inorganic elements. These chemicals elements produce damage to the respiratory epithelium and exacerbate pre-existent diseases. In our study we showed these differences in two experimental studies. Study I (dose-response curve - DRCS): Forty frog-palates were exposed to the following dilutions: frog ringer, intact DEPA diluted in frog-ringer at 3mg/L, 6mg/L and 12mg/L...
November 9, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#7
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29118359/visualization-and-quantification-of-injury-to-the-ciliated-epithelium-using-quantitative-flow-imaging-and-speckle-variance-optical-coherence-tomography
#8
Ute A Gamm, Brendan K Huang, Emily K Mis, Mustafa K Khokha, Michael A Choma
Mucociliary flow is an important defense mechanism in the lung to remove inhaled pathogens and pollutants. Disruption of ciliary flow can lead to respiratory infections. Multiple factors, from drugs to disease can cause an alteration in ciliary flow. However, less attention has been given to injury of the ciliated epithelium. In this study, we show how optical coherence tomography (OCT) can be used to investigate injury to the ciliated epithelium in a multi-contrast setting. We used particle tracking velocimetry (PTV-OCT) to investigate the cilia-driven flow field and 3D speckle variance imaging to investigate size and extent of injury caused to the skin of Xenopus embryos...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29115761/diagnosis-and-management-of-children-with-primary-ciliary-dyskinesia
#9
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/29084331/the-anti-inflammatory-effect-of-ripasudil-k-115-a-rho-kinase-rock-inhibitor-on-endotoxin-induced-uveitis-in-rats
#10
Takatoshi Uchida, Megumi Honjo, Reiko Yamagishi, Makoto Aihara
Purpose: To investigate the anti-inflammatory properties of ripasudil, a Rho kinase (ROCK) inhibitor, using endotoxin-induced uveitis (EIU) in rats. Methods: Endotoxin-induced uveitis was induced by footpad injection of lipopolysaccharide (LPS). Ripasudil was administered intraperitoneally 1 hour before and after LPS injection. The aqueous humor was collected 24 hours after injection, and the infiltrating cells, protein concentration, and levels of monocyte chemotactic protein-1 (MCP-1) were determined...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29081265/bacterial-infections-in-patients-with-primary-ciliary-dyskinesia-comparison-with-cystic-fibrosis
#11
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/29080770/atypical-fatal-sarcocystosis-associated-with-sarcocystis-neurona-in-a-white-nosed-coati-nasua-narica-molaris
#12
Jitender P Dubey, John G Trupkiewicz, Shiv K Verma, Joseph D Mowery, Gloria Adedoyin, Tim Georoff, Michael E Grigg
The protozoan parasite Sarcocystis neurona is an important cause of disease in horses (equine protozoal myeloencephalitis, EPM) and marine mammals. Isolated reports of clinical EPM-like disease have been documented in a zebra, raccoon, domestic cat, domestic dog, ferret, skunk, mink, lynx, red panda and fisher. The predominant disease is encephalomyelitis associated with schizonts in neural tissues. Here, we report highly disseminated sarcocystosis, in many tissues of a captive White-nosed coati (Nasua narica molaris)...
November 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/29077522/a-novel-uveolymphatic-drainage-pathway-possible-new-target-for-glaucoma-treatment
#13
Martyna Tomczyk-Socha, Anna Turno-Kręcicka
Glaucoma is a heterogeneous group of ophthalmic diseases leading to irreversible damage to the optic nerve. While the overall mechanism responsible for glaucoma remains obscure, the most important risk factor is elevated intraocular pressure. The current therapies, whether pharmacological or surgical, are primarily symptomatic with the aim to lower the intraocular pressure (IOP). Poorer response to treatment is associated, for example, with pseudoexfoliation glaucoma, which is determined by blocking the trabecular meshwork (TM) both by pigment grains and the pseudoexfoliation material...
October 27, 2017: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/29074387/ocular-tissue-distribution-and-pharmacokinetic-study-of-a-small-13kda-domain-antibody-after-intravitreal-subconjuctival-and-eye-drop-administration-in-rabbits
#14
Gerald Gough, Matthew Szapacs, Tejash Shah, Peter Clements, Craig Struble, Robert Wilson
Domain antibodies (dAb's) comprise the smallest functional unit of human IgG and can be targeted to a range of different soluble cytokine and receptor targets in the eye. In particular their small size may offer advantage for ocular tissue penetration and distribution. To investigate this we used a 13kDa tool molecule to undertake a preliminary short term ocular tissue distribution and pharmacokinetic study in the rabbit eye. The dAb was administered by the intravitreal or subconjunctival route or, as topical eye drops for up to five days and dAb concentrations measured in vitreous, aqueous, conjunctiva, choroid-RPE, retina, iris, sclera, and ciliary body...
October 23, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29072526/rab-gtpases-in-cilium-formation-and-function
#15
Oliver E Blacque, Noemie Scheidel, Stefanie Kuhns
Cilia are microtubule-based organelles extending from a basal body at the surface of eukaryotic cells. Cilia regulate cell and fluid motility, sensation and developmental signaling, and ciliary defects cause human diseases (ciliopathies) affecting the formation and function of many tissues and organs. Over the past decade, various Rab and Rab-like membrane trafficking proteins have been shown to regulate cilia-related processes such as basal body maturation, ciliary axoneme extension, intraflagellar transport and ciliary signaling...
October 26, 2017: Small GTPases
https://www.readbyqxmd.com/read/29065819/feline-infectious-peritonitis-immunohistochemical-features-of-ocular-inflammation-and-the-distribution-of-viral-antigens-in-structures-of-the-eye
#16
Natalia Ziółkowska, Katarzyna Paździor-Czapula, Bogdan Lewczuk, Elżbieta Mikulska-Skupień, Barbara Przybylska-Gornowicz, Kamila Kwiecińska, Hubert Ziółkowski
Feline infectious peritonitis (FIP) is a serious, widely distributed systemic disease caused by feline coronavirus (FCoV), in which ocular disease is common. However, questions remain about the patterns of ocular inflammation and the distribution of viral antigen in the eyes of cats with FIP. This study characterized the ocular lesions of FIP including the expression of glial fibrillary acidic protein and proliferating cell nuclear antigen by Müller cells in the retina in cases of FIP and to what extent macrophages are involved in ocular inflammation in FIP...
November 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29065723/ciliary-neurotrophic-factor-cntf-delivery-to-retina-an-overview-of-current-research-advancements
#17
Maryam Ghasemi, Effat Alizadeh, Khatereh Saei Arezoumand, Behzad Fallahi Motlagh, Nosratollah Zarghami
The intraocular administration of the ciliary neurotrophic factor (CNTF) has been found to attenuate the photoreceptor degeneration and preserve retinal functions in the animal research models of the inherited or induced retinal disease. Studies with the aim of CNTF transfer to the posterior segment inside the eye have been directed to determine the best method for its administration. An ideal delivery method would overcome the eye drug elimination mechanisms or barriers and provide the sustained release of the CNTF into retina in the safest fashion with the minimum harm to the quality of life...
October 24, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29056267/airway-ciliary-dysfunction-association-with-adverse-postoperative-outcomes-in-nonheterotaxy-congenital-heart-disease-patients
#18
Eileen Stewart, Phillip S Adams, Xin Tian, Omar Khalifa, Peter Wearden, Maliha Zahid, Cecilia W Lo
OBJECTIVE: Heterotaxy (HTX) congenital heart disease (CHD) patients with ciliary dysfunction (CD) have been shown to have increased postoperative respiratory morbidity. We hypothesized that non-HTX CHD infants with CD also will have increased postoperative morbidity, particularly respiratory complications. METHODS: Sixty-three infants with non-HTX CHD undergoing cardiac surgery were enrolled. Tests commonly used to assess for CD, nasal nitric oxide (nNO) measurements and nasal epithelial ciliary motion (CM) assessment, were obtained...
September 20, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#19
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29042084/adenylyl-cyclase-5-deficiency-reduces-renal-cyclic-amp-and-cyst-growth-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#20
Qian Wang, Patricia Cobo-Stark, Vishal Patel, Stefan Somlo, Pyung-Lim Han, Peter Igarashi
Cyclic AMP promotes cyst growth in polycystic kidney disease (PKD) by stimulating cell proliferation and fluid secretion. Previously, we showed that the primary cilium of renal epithelial cells contains a cAMP regulatory complex comprising adenylyl cyclases 5 and 6 (AC5/6), polycystin-2, A-kinase anchoring protein 150, protein kinase A, and phosphodiesterase 4C. In Kif3a mutant cells that lack primary cilia, the formation of this regulatory complex is disrupted and cAMP levels are increased. Inhibition of AC5 reduces cAMP levels in Kif3a mutant cells, suggesting that AC5 may mediate the increase in cAMP in PKD...
October 14, 2017: Kidney International
keyword
keyword
57238
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"