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https://www.readbyqxmd.com/read/28644039/parkinson-s-disease-biomarkers-perspective-from-the-ninds-parkinson-s-disease-biomarkers-program
#1
Katrina Gwinn, Karen K David, Christine Swanson-Fischer, Roger Albin, Coryse St Hillaire-Clarke, Beth-Anne Sieber, Codrin Lungu, F DuBois Bowman, Roy N Alcalay, Debra Babcock, Ted M Dawson, Richard B Dewey, Tatiana Foroud, Dwight German, Xuemei Huang, Vlad Petyuk, Judith A Potashkin, Rachel Saunders-Pullman, Margaret Sutherland, David R Walt, Andrew B West, Jing Zhang, Alice Chen-Plotkin, Clemens R Scherzer, David E Vaillancourt, Liana S Rosenthal
Biomarkers for Parkinson's disease (PD) diagnosis, prognostication and clinical trial cohort selection are an urgent need. While many promising markers have been discovered through the National Institute of Neurological Disorders and Stroke Parkinson's Disease Biomarker Program (PDBP) and other mechanisms, no single PD marker or set of markers are ready for clinical use. Here we discuss the current state of biomarker discovery for platforms relevant to PDBP. We discuss the role of the PDBP in PD biomarker identification and present guidelines to facilitate their development...
June 23, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#2
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28640672/consistency-in-patient-reported-outcomes-after-total-hip-replacement
#3
Albin Bengtsson, Gabrielle S Donahue, Szilard Nemes, Göran Garellick, Ola Rolfson
Purpose - The primary objective in this study was to describe the patient-reported outcome measures (PROMs) of total hip replacement (THR) patients 6 years after index surgery. Second, we sought to analyze how the preoperative, 1- and 6-year outcomes were associated. Patients and methods - By assessing the Swedish Hip Arthroplasty Register (SHAR), 15,755 patients with complete follow-up were included in the study group. 1-year and 6-year response rates were 93% and 87%. PROMs used by the SHAR include the EQ-5D instrument, and 2 modified visual analogue scales, 1 for pain and 1 for satisfaction...
June 22, 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28640309/computational-analysis-of-histidine-mutations-on-the-structural-stability-of-human-tyrosinases-leading-to-albinism-insurgence
#4
Mubashir Hassan, Qamar Abbas, Hussain Raza, Ahmed A Moustafa, Sung-Yum Seo
Misfolding and structural alteration in proteins lead to serious malfunctions and cause various diseases in humans. Mutations at the active binding site in tyrosinase impair structural stability and cause lethal albinism by abolishing copper binding. To evaluate the histidine mutational effect, all mutated structures were built using homology modelling. The protein sequence was retrieved from the UniProt database, and 3D models of original and mutated human tyrosinase sequences were predicted by changing the residual positions within the target sequence separately...
June 22, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28637598/the-use-and-perceived-usefulness-of-a-patient-specific-measurement-instrument-in-physiotherapy-goal-setting-a-qualitative-study
#5
Anita Stevens, Albine Moser, Albère Köke, Trudy van der Weijden, Anna Beurskens
OBJECTIVES: Physiotherapists are encouraged to set goals together with their patients to deliver client-centred care. In practice however, this goal-setting process is poorly specified, with limited patient involvement. The Patient-Specific Complaints instrument (PSC) can support the goal-setting process. Despite its being frequently used by Dutch physiotherapists, its actual role in goal setting is unknown. The objective was to examine physiotherapy goal-setting and the use of the PSC within this process, as well as the physiotherapists' perception of the usefulness of the PSC...
February 2017: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/28632878/identification-of-novel-g-protein-coupled-receptor-143-ligands-as-pharmacologic-tools-for-investigating-x-linked-ocular-albinism
#6
Elisabetta De Filippo, Prashiela Manga, Anke C Schiedel
Purpose: GPR143 regulates melanosome biogenesis and organelle size in pigment cells. The mechanisms underlying receptor function remain unclear. G protein-coupled receptors (GPCRs) are excellent pharmacologic targets; thus, we developed and applied a screening approach to identify potential GPR143 ligands and chemical modulators. Methods: GPR143 interacts with β-arrestin; we therefore established a β-arrestin recruitment assay to screen for compounds that modulate activity...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28629449/delineating-the-genetic-heterogeneity-of-oca-in-hungarian-patients
#7
Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). METHODS: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13)...
June 19, 2017: European Journal of Medical Research
https://www.readbyqxmd.com/read/28626485/isolation-and-characterization-of-isofraxidin-7-o-6-o-p-coumaroyl-%C3%AE-glucopyranoside-from-artemisia-capillaris-thunberg-a-novel-nontoxic-hyperpigmentation-agent-that-is-effective-in-vivo
#8
Soon-Ho Yim, Nadia Tabassum, Woong-Hee Kim, Haaglim Cho, Ji-Hyung Lee, Galzad J Batkhuu, Hyun Jung Kim, Won Keun Oh, Da-Woon Jung, Darren R Williams
Abnormalities in skin pigmentation can produce disorders such as albinism or melasma. There is a research need to discover novel compounds that safely and effectively regulate pigmentation. To identify novel modulators of pigmentation, we attempted to purify compounds from a bioactive fraction of the Korean medicinal plant Artemisia capillaris Thunberg. The novel compound isofraxidin 7-O-(6'-O-p-coumaroyl)-β-glucopyranoside (compound 1) was isolated and its pigmentation activity was characterized in mammalian melanocytes...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28615276/bluehealth-a-study-programme-protocol-for-mapping-and-quantifying-the-potential-benefits-to-public-health-and-well-being-from-europe-s-blue-spaces
#9
James Grellier, Mathew P White, Maria Albin, Simon Bell, Lewis R Elliott, Mireia Gascón, Silvio Gualdi, Laura Mancini, Mark J Nieuwenhuijsen, Denis A Sarigiannis, Matilda van den Bosch, Tanja Wolf, Susanne Wuijts, Lora E Fleming
INTRODUCTION: Proximity and access to water have long been central to human culture and accordingly deliver countless societal benefits. Over 200 million people live on Europe's coastline, and aquatic environments are the top recreational destination in the region. In terms of public health, interactions with 'blue space' (eg, coasts, rivers, lakes) are often considered solely in terms of risk (eg, drowning, microbial pollution). Exposure to blue space can, however, promote health and well-being and prevent disease, although underlying mechanisms are poorly understood...
June 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/28610998/support-material-dictates-the-attached-biomass-characteristics-during-the-immobilization-process-in-anaerobic-continuous-flow-packed-bed-bioreactor
#10
Jasmina Kerčmar, Albin Pintar
Hydrogen is considered to be an ideal energy alternative to replace environmentally burdensome fossil fuels. For its long-term production the immobilized biofilm system is the most promising and to choose the right support material the most challenging. In this respect, the anaerobic up-flow bioreactors packed with four most used support materials (polyethylene, polyurethane, activated carbon and expanded clay) were tested to investigate the crucial bacteria sensitive period-the immobilization process. Seven-day-operation was necessary and sufficient to reach metabolic and microbial stability regardless of support material used...
June 10, 2017: Anaerobe
https://www.readbyqxmd.com/read/28601631/ibt-based-quantitative-proteomics-identifies-potential-regulatory-proteins-involved-in-pigmentation-of-purple-sea-cucumber-apostichopus-japonicus
#11
Lili Xing, Lina Sun, Shilin Liu, Xiaoni Li, Libin Zhang, Hongsheng Yang
Sea cucumbers are an important economic species and exhibit high yield value among aquaculture animals. Purple sea cucumbers are very rare and beautiful and have stable hereditary patterns. In this study, isobaric tags (IBT) were first used to reveal the molecular mechanism of pigmentation in the body wall of the purple sea cucumber. We analyzed the proteomes of purple sea cucumber in early pigmentation stage (Pa), mid pigmentation stage (Pb) and late pigmentation stage (Pc), resulting in the identification of 5580 proteins, including 1099 differentially expressed proteins in Pb: Pa and 339 differentially expressed proteins in Pc: Pb...
June 2, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28601570/agreement-among-neuropsychological-and-behavioral-data-and-pib-findings-in-diagnosing-frontotemporal-dementia
#12
Kelly A Ryan, Dustin Hammers, Angeline DeLeon, Hande Bilen, Kirk Frey, James Burke, Roger Albin, Nancy Barbas, Judith Heidebrink, Bruno Giordani
Diagnostic inaccuracies have been reported in Alzheimer's disease (AD) and Frontotemporal Dementia (FTD) using clinical data alone. The [(11)C]-PiB PET scan offers a new method of identifying AD based on the detection of amyloid deposits. Our study investigated whether there was an agreement between neuropsychological and behavioral data and PiB findings in the diagnosis of FTD. Participants were 32 patients diagnosed with suspected FTD by clinical consensus. All participants underwent neuropsychological testing and PiB imaging...
June 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28594134/many-genes-involved-in-tourette-syndrome-pathogenesis
#13
Roger L Albin
No abstract text is available yet for this article.
June 8, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28584021/the-landscape-of-isoform-switches-in-human-cancers
#14
Kristoffer Vitting-Seerup, Albin Sandelin
Alternative usage of transcript isoforms from the same gene has been hypothesized as an important feature in cancers. However, differential usage of gene transcripts between conditions - isoform switching - has not been comprehensively characterized in and across cancer types. To this end, we developed methods for identification and visualization of isoform switches with predicted functional consequences. Using these methods, we characterized isoform switching in RNA-seq data from >5500 cancer patients covering 12 solid cancer types...
June 5, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28574945/a-series-of-five-patients-with-foveal-hypoplasia-demonstrating-good-visual-acuity
#15
Ian D Kirchner, Corey W Waldman, Janet S Sunness
BACKGROUND/PURPOSE: Foveal hypoplasia is associated with low vision in a variety of conditions. We report and show imaging studies for a series of five patients with foveal hypoplasia who had visual acuity ranging from 20/25 to 20/60. METHODS: Observational case series. PATIENTS: This series includes five patients aged 5 to 18 years who presented to the Greater Baltimore Medical Center, Hoover Low Vision Clinic. All patients showed a partial or complete absence of the fovea in both eyes on examination...
May 31, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#16
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546946/comment-on-homozygosity-mapping-of-a-consanguineous-pakistani-family-affected-with-oculocutaneous-albinism-to-tyrosinase-gene
#17
Muzammil Ahmad Khan
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28543679/the-missing-the-short-and-the-long-levodopa-responses-and-dopamine-actions
#18
Roger L Albin, Daniel K Leventhal
No abstract text is available yet for this article.
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#19
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28515449/the-role-of-stride-frequency-for-walk-to-run-transition-in-humans
#20
Ernst Albin Hansen, Lasse Andreas Risgaard Kristensen, Andreas Møller Nielsen, Michael Voigt, Pascal Madeleine
It remains unclear why humans spontaneously shift from walking to running at a certain point during locomotion at gradually increasing velocity. We show that a calculated walk-to-run transition stride frequency (70.6 ± 3.2 strides min(-1)) agrees with a transition stride frequency (70.8 ± 3.1 strides min(-1)) predicted from the two stride frequencies applied during treadmill walking and running at freely chosen velocities and freely chosen stride frequencies. The agreement is based on Bland and Altman's statistics...
May 17, 2017: Scientific Reports
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