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https://www.readbyqxmd.com/read/29453859/diminished-cxcr5-expression-in-peripheral-blood-of-patients-with-sj%C3%A3-gren-s-syndrome-may-relate-to-both-genotype-and-salivary-gland-homing
#1
Lara A Aqrawi, Margarita Ivanchenko, Albin Björk, Jorge I Ramírez Sepúlveda, Juliana Imgenberg-Kreuz, Marika Kvarnström, Philipp Haselmayer, Janicke Liaaen Jensen, Gunnel Nordmark, Karine Chemin, Kathrine Skarstein, Marie Wahren-Herlenius
Genetic investigations of Sjögren's syndrome (SS) have identified a susceptibility locus at p23.3 of chromosome 11, which contains the CXCR5 gene. CXCR5 is a chemokine receptor expressed on B and T cell subsets, and binds the chemotactic ligand CXCL13. We here aimed to link the genetic association with functional effects and explore the CXCR5/CXCL13 axis in SS. Expression quantitative trait loci analysis of the 11q23.3 locus was performed using B cell mRNA expression data from genotyped individuals. Lymphocyte surface markers were assessed by flow cytometry, and CXCL13 levels by a proximity extension assay...
February 17, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29452579/reliability-of-diagnosis-and-clinical-efficacy-of-visceral-osteopathy-a-systematic-review
#2
Albin Guillaud, Nelly Darbois, Richard Monvoisin, Nicolas Pinsault
BACKGROUND: In 2010, the World Health Organization published benchmarks for training in osteopathy in which osteopathic visceral techniques are included. The purpose of this study was to identify and critically appraise the scientific literature concerning the reliability of diagnosis and the clinical efficacy of techniques used in visceral osteopathy. METHODS: Databases MEDLINE, OSTMED.DR, the Cochrane Library, Osteopathic Research Web, Google Scholar, Journal of American Osteopathic Association (JAOA) website, International Journal of Osteopathic Medicine (IJOM) website, and the catalog of Académie d'ostéopathie de France website were searched through December 2017...
February 17, 2018: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/29441119/diagnosis-monitoring-and-prevention-of-exposure-related-non-communicable-diseases-in-the-living-and-working-environment-dimopex-project-is-designed-to-determine-the-impacts-of-environmental-exposure-on-human-health
#3
REVIEW
Lygia Therese Budnik, Balazs Adam, Maria Albin, Barbara Banelli, Xaver Baur, Fiorella Belpoggi, Claudia Bolognesi, Karin Broberg, Per Gustavsson, Thomas Göen, Axel Fischer, Dorota Jarosinska, Fabiana Manservisi, Richard O'Kennedy, Johan Øvrevik, Elizabet Paunovic, Beate Ritz, Paul T J Scheepers, Vivi Schlünssen, Heidi Schwarzenbach, Per E Schwarze, Orla Sheils, Torben Sigsgaard, Karel Van Damme, Ludwine Casteleyn
The WHO has ranked environmental hazardous exposures in the living and working environment among the top risk factors for chronic disease mortality. Worldwide, about 40 million people die each year from noncommunicable diseases (NCDs) including cancer, diabetes, and chronic cardiovascular, neurological and lung diseases. The exposure to ambient pollution in the living and working environment is exacerbated by individual susceptibilities and lifestyle-driven factors to produce complex and complicated NCD etiologies...
2018: Journal of Occupational Medicine and Toxicology
https://www.readbyqxmd.com/read/29437493/identification-of-five-novel-variants-in-chinese-oculocutaneous-albinism-by-targeted-next-generation-sequencing
#4
Biyuan Qiu, Tao Ma, Chunyan Peng, Xiaoqin Zheng, Jiyun Yang
BACKGROUND: The diagnosis of oculocutaneous albinism (OCA) is established using clinical signs and symptoms. OCA is, however, a highly genetically heterogeneous disease with mutations identified in at least nineteen unique genes, many of which produce overlapping phenotypic traits. Thus, differentiating genetic OCA subtypes for diagnoses and genetic counseling is challenging, based on clinical presentation alone, and would benefit from a comprehensive molecular diagnostic. AIM: To develop and validate a more comprehensive, targeted, next-generation-sequencing-based diagnostic for the identification of OCA-causing variants...
February 13, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29429552/comment-renforcer-la-place-des-patients-dans-les-%C3%A3-valuations-des-technologies-de-sant%C3%A3-faites-par-les-autorit%C3%A3-s-de-sant%C3%A3
#5
Marie-France Mamzer, Sophie Dubois, Christian Saout, Nicolas Albin, Jehan-Michel Béhier, Anne Buisson, Vincent Diebolt, Olivier Delaitre, Christophe Duguet, Jean-Yves Fagon, Ségolène Gaillard, Claire Le Jeunne, René Mazars, Joëlle Micallef, Hervé Nabarette, Laurent Piazza, Catherine Raynaud, Nathalie Varoqueaux
No abstract text is available yet for this article.
December 11, 2017: Thérapie
https://www.readbyqxmd.com/read/29421043/influence-of-support-materials-on-continuous-hydrogen-production-in-anaerobic-packed-bed-reactor-with-immobilized-hydrogen-producing-bacteria-at-acidic-conditions
#6
Petra Muri, Romana Marinšek-Logar, Petar Djinović, Albin Pintar
This study assesses the impact of different support materials (Mutag BioChip™, expanded clay and activated carbon) on microbial hydrogen production in an anaerobic packed-bed reactor (APBR) treating synthetic waste water containing glucose as the main carbon source at low pH value. The APBRs were inoculated with acid pretreated anaerobic sludge and operated at pH value of 4±0.2 and hydraulic retention time (HRT) of 3h. The maximum hydrogen yield of 1.80mol H2/mol glucose was achieved for the APBR packed with Mutag BioChip™ (R1), followed by expanded clay (R2, 1...
April 2018: Enzyme and Microbial Technology
https://www.readbyqxmd.com/read/29418053/preparing-researchers-for-patient-and-public-involvement-in-scientific-research-development-of-a-hands-on-learning-approach-through-action-research
#7
Maarten de Wit, Anna Beurskens, Barbara Piškur, Esther Stoffers, Albine Moser
BACKGROUND: Acquiring the theoretical and practical knowhow of conducting patient and public involvement (PPI) in research is not part of the traditional curriculum of researchers. Zuyd University of Applied Sciences and Huis voor de Zorg, a regional umbrella patient organization, therefore started a 1.5-year coaching programme. OBJECTIVE: To establish a community of practice by developing a PPI coaching programme for senior and junior health services researchers of Zuyd University...
February 8, 2018: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/29384562/characteristics-and-long-term-follow-up-of-isolated-vertical-nystagmus-in-infancy
#8
Imran Jivraj, Shannon J Beres, Grant T Liu
PURPOSE: To determine the clinical characteristics and long-term outcomes of infants who presented with isolated vertical nystagmus. METHODS: The medical records of 114 infants who were diagnosed as having nystagmus from 1996 to 2016 were screened. Patients with vertical nystagmus within the first year of life who had unremarkable magnetic resonance imaging of the brain and demonstrated age-appropriate visual behavior were included. The parents of patients in the final study cohort were contacted by telephone to obtain long-term follow-up information...
January 31, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29378134/tlr-agonist-conjugation-a-chemical-perspective
#9
Bob J Ignacio, Tyler Albin, Aaron P Esser-Kahn, Martijn Verdoes
Toll-like receptors (TLRs) are vital elements of the mammalian immune system that function by recognizing pathogen-associated molecular patterns (PAMPs), bridging innate and adaptive immunity. They have become a prominent therapeutic target for the treatment of infectious diseases, cancer, and allergies, with many TLR agonists currently in clinical trials or approved as immunostimulants. Numerous studies have shown that conjugation of TLR agonists to other molecules can beneficially influence their potency, toxicity, pharmacokinetics, or function...
January 29, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29374654/oculocutaneous-albinism-with-iridofundal-coloboma
#10
Gunjan Saluja, Shorya Vardhan Azad, Amar Pujari, Shreyas Temkar
No abstract text is available yet for this article.
January 26, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29345414/molecular-characterization-of-a-series-of-990-index-patients-with-albinism
#11
E Lasseaux, C Plaisant, V Michaud, P Pennamen, A Trimouille, L Gaston, S Monfermé, D Lacombe, C Rooryck, F Morice-Picard, B Arveiler
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. In order to obtain a precise diagnosis we screened the 19 known albinism genes in 990 index patients using targeted next generation sequencing (NGS) and high resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72...
January 18, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29339408/development-of-the-swimbladder-surfactant-system-and-biogenesis-of-lysosome-related-organelles-is-regulated-by-blos1-in-zebrafish
#12
Tianbing Chen, Guili Song, Huihui Yang, Lin Mao, Zongbin Cui, Kaiyao Huang
Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs). To date, ten HPS genes have been identified, three of which belong to the octamer complex BLOC-1 (biogenesis of lysosome-related organelles complex 1). One subunit of the BLOC-1 complex, BLOS1, also participates in the BLOC-1-related complex (BORC). Due to lethality at the early embryo stage in BLOS1 knockout mice, the function of BLOS1 in the above two complexes and whether it has a novel function are unclear...
January 16, 2018: Genetics
https://www.readbyqxmd.com/read/29329540/children-with-albinism-in-african-regions-their-rights-to-being-and-doing
#13
Anita Franklin, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor
BACKGROUND: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. The impacts of albinism are particularly serious in areas that associate albinism with legend and folklore, leading to stigmatisation and discrimination...
January 12, 2018: BMC International Health and Human Rights
https://www.readbyqxmd.com/read/29316344/widespread-dynamic-and-pleiotropic-expression-of-the-melanocortin-1-receptor-mc1r-system-is-conserved-across-chick-mouse-and-human-embryonic-development
#14
Anna C Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, Magalie E Carey, Dianne Gerrelli, Veronica A Kinsler, Heather C Etchevers
BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29311601/plasmonic-waveguide-design-for-the-enhanced-forward-stimulated-brillouin-scattering-in-diamond
#15
Qiang Liu, Luigi Bibbó, Sacharia Albin, Qiong Wang, Mi Lin, Huihui Lu, Zhengbiao Ouyang
We propose a scheme of metal/dielectric/metal waveguide for the enhanced forward stimulated Brillouin scattering (FSBS) in diamond that is mediated by gap surface plasmons. Numerical results based on finite-element method show that the maximum Brillouin gain in the small gap (~100 nm) can exceed 106 W-1 m-1, which is three orders of magnitude higher than that in diamond-only waveguides. It is found that the radiation pressure that exists at the boundaries of metal and diamond plays a dominant role in contributing to the enhanced forward stimulated Brillouin gain, although electrostrictive forces interfere destructively...
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29276605/tyramine-functionalization-of-poly-glycerol-sebacate-increases-the-elasticity-of-the-polymer
#16
Xiaochu Ding, Yen-Lin Wu, Jin Gao, Albin Wells, Keewon Lee, Yadong Wang
Poly(glycerol sebacate) (PGS) is an elastomer used widely in tissue engineering studies due to good biocompatibility. Hereby we report a tyramine functionalized PGS called PGS-TA. Tyramine adds a stronger physical bonding capability to PGS-TA. Tensile tests showed that the softness and toughness of the material were similar to PGS. However, PGS-TA demonstrated 16-folds increase of elastic deformations compared to PGS processed under identical conditions. The in vitro studies demonstrated that the viability, and metabolic activity of baboon smooth muscle cells were the same as those on tissue culture polystyrene...
August 14, 2017: Journal of Materials Chemistry. B, Materials for Biology and Medicine
https://www.readbyqxmd.com/read/29274161/lower-lip-squamous-cell-carcinoma-in-patients-with-photosensitive-disorders-analysis-of-cases-treated-at-the-brazilian-national-cancer-institute-inca-from-1999-to-2012
#17
J-F-P Borges, N Lanaro, V Bernardo, R Albano, F Dias, P de Faria, L Pinto, S-Q Lourenco
BACKGROUND: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC. MATERIAL AND METHODS: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16)...
December 23, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29228118/where-is-the-tmt-gc-ms-analyses-of-fox-feces-and-behavioral-responses-of-rats-to-fear-inducing-odors
#18
Olivier Rampin, Nathalie Jerôme, Audrey Saint-Albin, Christian Ouali, Frank Boué, Nicolas Meunier, Birte L Nielsen
TMT (2,5-dihydro-2,4,5-trimethylthiazoline) is known as a component of fox feces inducing fear in rodents. However, no recent chemical analyses of fox feces are available, and few studies make direct comparisons between TMT and fox feces. Fox feces from 3 individuals were used to prepare 24 samples to be analyzed for the presence of TMT using gas chromatography-mass spectrometry (GC-MS). When TMT was added in low amounts (50-2000 nmol/g), TMT was detected in 10 out of 11 samples. When no TMT was added, TMT was detected in only 1 out of 13 samples...
December 8, 2017: Chemical Senses
https://www.readbyqxmd.com/read/29227306/big-data-analytical-approaches-to-the-nacc-dataset-aiding-preclinical-trial-enrichment
#19
Ming Lin, Pinghua Gong, Tao Yang, Jieping Ye, Roger L Albin, Hiroko H Dodge
BACKGROUND: Clinical trials increasingly aim to retard disease progression during presymptomatic phases of Mild Cognitive Impairment (MCI) and thus recruiting study participants at high risk for developing MCI is critical for cost-effective prevention trials. However, accurately identifying those who are destined to develop MCI is difficult. Collecting biomarkers is often expensive. METHODS: We used only noninvasive clinical variables collected in the National Alzheimer's Coordinating Center (NACC) Uniform Data Sets version 2...
December 7, 2017: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/29226177/color-discrimination-errors-associate-with-axial-motor-impairments-in-parkinson-s-disease
#20
Nicolaas I Bohnen, Jacob Haugen, Andrew Ridder, Vikas Kotagal, Roger L Albin, Kirk A Frey, Martijn L T M Müller
Background: Visual function deficits are more common in imbalance-predominant compared to tremor-predominant PD suggesting a pathophysiological role of impaired visual functions in axial motor impairments. Objective: To investigate the relationship between changes in color discrimination and motor impairments in PD while accounting for cognitive or other confounder factors. Methods: PD subjects (n=49, age 66.7±8.3 years; Hoehn & Yahr stage 2...
November 2017: Movement Disorders Clinical Practice
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