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https://www.readbyqxmd.com/read/28438206/exogenous-gene-transfer-of-rab-3-8-small-gtpase-ameliorates-aberrant-lung-surfactant-homeostasis-in-ruby-rats
#1
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
BACKGROUND: Rab(3)8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab(3)8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells...
April 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28433242/freeform-extrusion-fabrication-of-titanium-fiber-reinforced-13-93-bioactive-glass-scaffolds
#2
Albin Thomas, Krishna C R Kolan, Ming C Leu, Gregory E Hilmas
Although implants made with bioactive glass have shown promising results for bone repair, their application in repairing load-bearing long bone is limited due to their poor mechanical properties in comparison to human bone. This work investigates the freeform extrusion fabrication of bioactive silicate 13-93 glass scaffolds reinforced with titanium (Ti) fibers. A composite paste prepared with 13-93 glass and Ti fibers (~16µm in diameter and lengths varying from ~200µm to ~2 mm) was extruded through a nozzle to fabricate scaffolds (0-90° filament orientation pattern) on a heated plate...
June 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28432152/exposure-to-seawater-increases-intestinal-motility-in-euryhaline-rainbow-trout-oncorhynchus-mykiss
#3
Jeroen Brijs, Grant W Hennig, Albin Gräns, Esmée Dekens, Michael Axelsson, Catharina Olsson
Upon exposure to seawater, euryhaline teleosts need to imbibe and desalinate seawater to allow for intestinal ion and water absorption, as this is essential for maintaining osmotic homeostasis. Despite the potential benefits of increased mixing and transport of imbibed water for increasing the efficiency of absorptive processes, the effect of water salinity on intestinal motility in teleosts remains unexplored. By qualitatively and quantitatively describing in vivo intestinal motility of euryhaline rainbow trout (Oncorhynchus mykiss), this study demonstrates that in freshwater, the most common motility pattern consisted of clusters of rhythmic, posteriorly propagating contractions that lasted ∼1-2 minutes followed by a period of quiescence lasting ∼4-5 minutes...
April 21, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#4
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425574/factors-associated-with-sustainability-of-2-quality-improvement-programs-after-achieving-early-implementation-success-a-qualitative-case-study
#5
Stephanie M C Ament, Freek Gillissen, Albine Moser, José M C Maessen, Carmen D Dirksen, Maarten F von Meyenfeldt, Trudy van der Weijden
RATIONALE, AIMS, AND OBJECTIVES: Sustainability of innovations is a relatively new concept in health care research and has become an issue of growing interest. The current study explored factors related to the sustainability of 2 multidisciplinary hospital-based programs 3 to 6 years after achieving early implementation success. METHOD: An exploratory qualitative study was conducted into 2 implementation cases, an Enhanced Recovery After Surgery program for colorectal surgery and a short-stay program for breast cancer surgery...
April 20, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28411729/design-with-limited-anthropometric-data-a-method-of-interpreting-sums-of-percentiles-in-anthropometric-design
#6
Thomas J Albin
Occasionally practitioners must work with single dimensions defined as combinations (sums or differences) of percentile values, but lack information (e.g. variances) to estimate the accommodation achieved. This paper describes methods to predict accommodation proportions for such combinations of percentile values, e.g. two 90th percentile values. Kreifeldt and Nah z-score multipliers were used to estimate the proportions accommodated by combinations of percentile values of 2-15 variables; two simplified versions required less information about variance and/or correlation...
July 2017: Applied Ergonomics
https://www.readbyqxmd.com/read/28405745/lethal-albinic-seedling-encoding-a-threonyl-trna-synthetase-is-involved-in-development-of-plastid-protein-synthesis-system-in-rice
#7
Yuan-Yan Zhang, Yuan-Yuan Hao, Yi-Hua Wang, Chun-Ming Wang, Yun-Long Wang, Wu-Hua Long, Di Wang, Xi Liu, Ling Jiang, Jian-Min Wan
An albinic rice is caused by mutation of threonyl-tRNA synthetase, which is essential for plant development by stabilizing of NEP and PEP gene expressions and chloroplast protein synthesis. Chloroplast biogenesis and development depend on complex genetic mechanisms. Apart from their function in translation, aminoacyl-tRNA synthetases (aaRSs) play additional role in gene expression regulation, RNA splicing, and cytokine activity. However, their detailed functions in plant development are still poorly understood...
April 12, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28405556/multiple-basal-cell-carcinomas-in-a-patient-of-oculocutaneous-albinism
#8
Debasmita Behera, Tapaswini Tripathy, Bikash R Kar
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28401298/neurovascular-hand-symptoms-in-relation-to-cold-exposure-in-northern-sweden-a-population-based-study
#9
Albin Stjernbrandt, Bodil Björ, Martin Andersson, Lage Burström, Ingrid Liljelind, Tohr Nilsson, Ronnie Lundström, Jens Wahlström
PURPOSE: To describe the self-reported ambient cold exposure in northern Sweden and to relate the level of cumulative cold exposure to the occurrence of sensory and vascular hand symptoms. We hypothesize that cold exposure is positively related to reporting such symptoms. METHODS: A questionnaire about cold exposure and related symptoms was sent out to 35,144 subjects aged 18-70 years and living in northern Sweden. RESULTS: A total of 12,627 out of 35,144 subjects returned the questionnaire (response rate 35...
April 11, 2017: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/28397224/-identification-of-a-novel-gpr143-mutation-in-a-chinese-family-affected-with-x-linked-ocular-albinism
#10
Qi Zhao, Menglong Guan, Ling Wang, Yong Liao, Jesse Li-Ling, Huajing Wan
OBJECTIVE: To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. METHODS: Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. RESULTS: A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28393041/refractive-error-study-in-young-subjects-results-from-a-rural-area-in-paraguay
#11
Isabel Signes-Soler, José Luis Hernández-Verdejo, Miguel Angel Estrella Lumeras, Elena Tomás Verduras, David P Piñero
AIM: To evaluate the distribution of refractive error in young subjects in a rural area of Paraguay in the context of an international cooperation campaign for the prevention of blindness. METHODS: A sample of 1466 young subjects (ranging from 3 to 22 years old), with a mean age of 11.21±3.63 years old, were examined to assess their distance visual acuity (VA) and refractive error. The first screening examination performed by trained volunteers, included visual acuity testing, autokeratometry and non-cycloplegic autorefraction...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28392976/an-automated-reference-frame-selection-arfs-algorithm-for-cone-imaging-with-adaptive-optics-scanning-light-ophthalmoscopy
#12
Alexander E Salmon, Robert F Cooper, Christopher S Langlo, Ahmadreza Baghaie, Alfredo Dubra, Joseph Carroll
PURPOSE: To develop an automated reference frame selection (ARFS) algorithm to replace the subjective approach of manually selecting reference frames for processing adaptive optics scanning light ophthalmoscope (AOSLO) videos of cone photoreceptors. METHODS: Relative distortion was measured within individual frames before conducting image-based motion tracking and sorting of frames into distinct spatial clusters. AOSLO images from nine healthy subjects were processed using ARFS and human-derived reference frames, then aligned to undistorted AO-flood images by nonlinear registration and the registration transformations were compared...
April 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28392975/the-effect-of-retinal-melanin-on-optical-coherence-tomography-images
#13
Melissa A Wilk, Alison L Huckenpahler, Ross F Collery, Brian A Link, Joseph Carroll
PURPOSE: We assessed the effect of melanin on the appearance of hyperreflective outer retinal bands in optical coherence tomography (OCT) images. METHODS: A total of 23 normal subjects and 51 patients with albinism were imaged using the Bioptigen high-resolution spectral-domain OCT. In addition, three wild type, three albino (slc45a2(b4/b4) ), and eight tyrosinase mosaic zebrafish were imaged with the hand-held Bioptigen Envisu R2200 OCT. To identify pigmented versus nonpigmented regions in the tyrosinase mosaic zebrafish, en face summed volume projections of the retinal pigment epithelium (RPE) were created from volume scans...
April 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28376043/multimodal-imaging-of-mosaic-retinopathy-in-carriers-of-hereditary-x-linked-recessive-diseases
#14
An-Lun Wu, Jung-Pan Wang, Yun-Ju Tseng, Laura Liu, Yu-Chuan Kang, Kuan-Jen Chen, An-Ning Chao, Lung-Kun Yeh, Tun-Lu Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Nan-Kai Wang
PURPOSE: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. METHODS: We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography...
April 3, 2017: Retina
https://www.readbyqxmd.com/read/28375954/optimizing-the-care-coordinator-role-in-primary-care-a-qualitative-case-study
#15
Elizabeth C Clark, Jenna Howard, Jeanne Ferrante, Cathryn Heath, Kang Li, Susan Albin, Shawna V Hudson
BACKGROUND: Care coordinators (CCs) are increasingly employed in primary care as a means to improve health care quality, but little research examines the process by which CCs are integrated into practices. This case study provides an in-depth examination of this process and efforts to optimize the role. METHODS: Two CCs' work was observed and assessed, and attempts were made to optimize the role using workflow modeling and "Plan-Do-Study-Act" cycles. Rolling qualitative analyses of field notes from key informant interviews and team meetings were conducted using iterative cycles of "immersion/crystallization" to identify emerging themes...
April 2017: Quality Management in Health Care
https://www.readbyqxmd.com/read/28371844/diesel-exhaust-exposure-assessment-among-tunnel-construction-workers-correlations-between-nitrogen-dioxide-respirable-elemental-carbon-and-particle-number
#16
Maria Hedmer, Aneta Wierzbicka, Huiqi Li, Maria Albin, Håkan Tinnerberg, Karin Broberg
Objectives: Occupational exposure to diesel exhaust is common due the widespread use of diesel-powered combustion engines. Diesel exhaust is chemically complex and consists of thousands of compounds present as gases and particulate matter. Both nitrogen dioxide (NO2) and elemental carbon (EC) have been used as markers for diesel exhaust exposure. Currently EC is regarded as the best surrogate of diesel exhaust. The objective was to quantify the occupational exposure to diesel exhaust in underground tunnel construction work using a multi-metric approach, and to investigate the correlations between NO2, respirable EC, respirable organic carbon (OC), respirable total carbon (TC), respirable dust (RD), and particle number...
March 29, 2017: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/28361996/increased-mitochondrial-coupling-and-anaerobic-capacity-minimizes-aerobic-costs-of-trout-in-the-sea
#17
Jeroen Brijs, Erik Sandblom, Henrik Sundh, Albin Gräns, James Hinchcliffe, Andreas Ekström, Kristina Sundell, Catharina Olsson, Michael Axelsson, Nicolas Pichaud
Anadromy is a distinctive life-history strategy in fishes that has evolved independently many times. In an evolutionary context, the benefits of anadromy for a species or population must outweigh the costs and risks associated with the habitat switch. The migration of fish across the freshwater-ocean boundary coincides with potentially energetically costly osmoregulatory modifications occurring at numerous levels of biological organization. By integrating whole animal and sub-cellular metabolic measurements, this study presents significant findings demonstrating how an anadromous salmonid (i...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28359908/perception-of-safety-is-a-prerequisite-for-the-association-between-neighbourhood-green-qualities-and-physical-activity-results-from-a-cross-sectional-study-in-sweden
#18
Hanna Weimann, Lars Rylander, Matilda Annerstedt van den Bosch, Maria Albin, Erik Skärbäck, Patrik Grahn, Jonas Björk
In this study, we assess how the Scania Green Score (SGS5), and the five distinct perceived neighbourhood green dimensions within this area-aggregated index (1km(2) squares), is associated with self-reported physical activity and general health, and if perceived safety and social coherence has a moderating effect. Two independent surveys, both conducted in Scania, Sweden, was used for data on SGS5 and health outcomes (N=28 198 and N=23 693), respectively. SGS5 was more clearly associated with physical activity (OR 1...
March 27, 2017: Health & Place
https://www.readbyqxmd.com/read/28356055/a-genome-wide-association-study-reveals-a-locus-for-bilateral-iridal-hypopigmentation-in-holstein-friesian-cattle
#19
Anne K Hollmann, Martina Bleyer, Andrea Tipold, Jasmin N Neßler, Wilhelm E Wemheuer, Ekkehard Schütz, Bertram Brenig
BACKGROUND: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. RESULTS: Affected animals did not reveal any ophthalmological or neurological abnormalities besides the specific iris color differences. Coat color of affected cattle did not differ from controls...
March 29, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28345861/identification-of-gene-transcription-start-sites-and-enhancers-responding-to-pulmonary-carbon-nanotube-exposure-in-vivo
#20
Jette Bornholdt, Anne Thoustrup Saber, Berit Lilje, Mette Boyd, Mette Jørgensen, Yun Chen, Morana Vitezic, Nicklas Raun Jacobsen, Sarah Søs Poulsen, Trine Berthing, Simon Bressendorff, Kristoffer Vitting-Seerup, Robin Andersson, Karin Sørig Hougaard, Carole L Yauk, Sabina Halappanavar, Håkan Wallin, Ulla Vogel, Albin Sandelin
Increased use of nanomaterials in industry, medicine, and consumer products has raised concerns over their toxicity. To ensure safe use of nanomaterials, understanding their biological effects at the molecular level is crucial. In particular, the regulatory mechanisms responsible for the cascade of genes activated by nanomaterial exposure are not well-characterized. To this end, we profiled the genome-wide usage of gene transcription start sites and linked active enhancer regions in lungs of C57BL/6 mice 24 h after intratracheal instillation of a single dose of the multiwalled carbon nanotube (MWCNT) Mitsui-7...
April 25, 2017: ACS Nano
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