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https://www.readbyqxmd.com/read/29045633/ventricular-arrhythmia-and-sudden-cardiac-death-in-fabry-disease-a-systematic-review-of-risk-factors-in-clinical-practice
#1
Shanat Baig, Nicky C Edward, Dipak Kotecha, Boyang Liu, Sabrina Nordin, Rebecca Kozor, James C Moon, Tarekegn Geberhiwot, Richard P Steeds
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD...
October 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29045623/the-influence-of-circadian-timing-on-olfactory-sensitivity
#2
Rachel S Herz, Eliza Van Reen, David Barker, Cassie J Hilditch, Ashten Bartz, Mary A Carskadon
Olfactory sensitivity has traditionally been viewed as a trait that varies according to individual differences but is not expected to change with one's momentary state. Recent research has begun to challenge this position and time of day has been shown to alter detection levels. Links between obesity and the timing of food intake further raise the issue of whether odor detection may vary as a function of circadian processes. To investigate this question, thirty-seven (21 male) adolescents (M age =13.7 years) took part in a 28-hr forced-desynchrony (FD) protocol with 17...
October 17, 2017: Chemical Senses
https://www.readbyqxmd.com/read/29043048/do-temperate-tree-species-diversity-and-identity-influence-soil-microbial-community-function-and-composition
#3
Rim Khlifa, Alain Paquette, Christian Messier, Peter B Reich, Alison D Munson
Studies of biodiversity-ecosystem function in treed ecosystems have generally focused on aboveground functions. This study investigates intertrophic links between tree diversity and soil microbial community function and composition. We examined how microbial communities in surface mineral soil responded to experimental gradients of tree species richness (SR), functional diversity (FD), community-weighted mean trait value (CWM), and tree identity. The site was a 4-year-old common garden experiment near Montreal, Canada, consisting of deciduous and evergreen tree species mixtures...
October 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29039559/matrine-in-association-with-fd%C3%A2-2-stimulates-f508del%C3%A2-cystic-fibrosis-transmembrane-conductance-regulator-activity-in-the-presence-of-corrector-vx809
#4
Barbara Marengo, Andrea Speciale, Lisa Senatore, Silvano Garibaldi, Francesca Musumeci, Erika Nieddu, Benedetta Pollarolo, Maria Adelaide Pronzato, Silvia Schenone, Mauro Mazzei, Cinzia Domenicotti
Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the predominant mutation is termed Phe508del (F508del). Therapy for F508del‑CFTR patients is based on the use of Orkambi®, a combination of VX809 and VX770. However, though Orkambi leads to an improvement in the lung function of patients, a progressive reduction in its efficacy has been observed. In order to overcome this effect, the aim of the present study was to investigate the role of matrine and the in‑house compound FD‑2 in increasing the action of VX809 and VX770...
October 6, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29039131/phenotype-disease-severity-and-pain-are-major-determinants-of-quality-of-life-in-fabry-disease-results-from-a-large-multicenter-cohort-study
#5
Maarten Arends, Simon Körver, Derralynn A Hughes, Atul Mehta, Carla E M Hollak, Marieke Biegstraaten
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. QoL data of Fabry patients as assessed by the EuroQol five dimension questionnaire (EQ-5D) from two international centers of excellence were collected. The aim of this study was to evaluate the effect of sex, phenotype, age, different states of disease severity, pain, and ERT on EQ-5D utilities...
October 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29038934/characterisation-of-fibrosis-in-chemically-induced-rat-mammary-carcinomas-using-multi-modal-endogenous-contrast-mri-on-a-1-5t-clinical-platform
#6
Neil P Jerome, Jessica K R Boult, Matthew R Orton, James A d'Arcy, Ashutosh Nerurkar, Martin O Leach, Dow-Mu Koh, David J Collins, Simon P Robinson
OBJECTIVES: To determine the ability of multi-parametric, endogenous contrast MRI to detect and quantify fibrosis in a chemically-induced rat model of mammary carcinoma. METHODS: Female Sprague-Dawley rats (n=18) were administered with N-methyl-N-nitrosourea; resulting mammary carcinomas underwent nine-b-value diffusion-weighted (DWI), ultrashort-echo (UTE) and magnetisation transfer (MT) magnetic resonance imaging (MRI) on a clinical 1.5T platform, and associated quantitative MR parameters were calculated...
October 16, 2017: European Radiology
https://www.readbyqxmd.com/read/29038079/optical-coherence-tomography-in-the-management-of-skull-base-fibrous-dysplasia-with-optic-nerve-involvement
#7
Joshua Loewenstern, Christopher M Hernandez, Carolyn Chadwick, Amish Doshi, Rudrani Banik, Christopher A Sarkiss, Joshua Bederson, Raj K Shrivastava
BACKGROUND: Fibrous dysplasia (FD) of the skull base can present with optic nerve compression. As most patients initially do not experience vision loss, controversy exists whether to proceed with prophylactic surgical decompression or elect for conservative observation. Optical coherence tomography (OCT), a physiologic imaging modality widely used to assess the condition of the retinal nerve fiber layer (RNFL), has been useful in monitoring compressive tumors on the optic nerve. The present study evaluated the potential use of OCT in the management of FD patients with optic nerve involvement...
October 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29035975/breath-hydrogen-testing-in-east-and-southeast-asia
#8
Chu Kion Yao, Natural Hoi Sing Chu, Victoria Ping Yi Tan
Breath hydrogen tests are popular, noninvasive tests for the assessment of carbohydrate fermentation in patients with irritable bowel syndrome (IBS) and functional dyspepsia (FD). There is limited information regarding the utility of breath hydrogen and methane tests in IBS and FD patients in East and Southeast Asia. This review aims to summarize current literature about common indications of breath testing in this region, the genesis of functional gastrointestinal symptoms by provocative breath testing and provide suggestions for correct use...
October 13, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29031440/removal-of-antibiotics-in-a-parallel-plate-thin-film-photocatalytic-reactor-process-modeling-and-evolution-of-transformation-by-products-and-toxicity
#9
Can Burak Özkal, Zacharias Frontistis, Maria Antonopoulou, Ioannis Konstantinou, Dionissios Mantzavinos, Süreyya Meriç
Photocatalytic degradation of sulfamethoxazole (SMX) antibiotic has been studied under recycling batch and homogeneous flow conditions in a thin-film coated immobilized system namely parallel-plate (PPL) reactor. Experimentally designed, statistically evaluated with a factorial design (FD) approach with intent to provide a mathematical model takes into account the parameters influencing process performance. Initial antibiotic concentration, UV energy level, irradiated surface area, water matrix (ultrapure and secondary treated wastewater) and time, were defined as model parameters...
October 2017: Journal of Environmental Sciences (China)
https://www.readbyqxmd.com/read/29030862/establishing-standards-on-colors-from-natural-sources
#10
REVIEW
James E Simon, Eric A Decker, Mario G Ferruzzi, M Monica Giusti, Carla D Mejia, Mark Goldschmidt, Stephen T Talcott
Color additives are applied to many food, drug, and cosmetic products. With up to 85% of consumer buying decisions potentially influenced by color, appropriate application of color additives and their safety is critical. Color additives are defined by the U.S. Federal Food, Drug, and Cosmetic Act (FD&C Act) as any dye, pigment, or substance that can impart color to a food, drug, or cosmetic or to the human body. Under current U.S. Food and Drug Administration (FDA) regulations, colors fall into 2 categories as those subject to an FDA certification process and those that are exempt from certification often referred to as "natural" colors by consumers because they are sourced from plants, minerals, and animals...
October 14, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/29027531/-costal-cartilage-structural-and-functional-changes-in-children-with-a-funnel-or-keeled-chest
#11
A V Kurkov, A B Shekhter, V S Paukov
Congenital chest wall deformities (CCWDs) in children are severe diseases leading to cosmetic defects and diseases of the respiratory and cardiovascular systems. The most common of these deformities are funnel-shaped (pectus excavatum, FD) and keeled (pectus carinatum, KD) ones. The pathogenesis of CCWDs and the role of costal cartilage structural and functional changes in their pathogenesis have now been not well studied, which makes it difficult to elaborate pathogenetic approaches to correcting these diseases...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/29026684/combined-multi-distance-frequency-domain-and-diffuse-correlation-spectroscopy-system-with-simultaneous-data-acquisition-and-real-time-analysis
#12
Stefan A Carp, Parisa Farzam, Norin Redes, Dennis M Hueber, Maria Angela Franceschini
Frequency domain near infrared spectroscopy (FD-NIRS) and diffuse correlation spectroscopy (DCS) have emerged as synergistic techniques for the non-invasive assessment of tissue health. Combining FD-NIRS oximetry with DCS measures of blood flow, the tissue oxygen metabolic rate can be quantified, a parameter more closely linked to underlying physiology and pathology than either NIRS or DCS estimates alone. Here we describe the first commercially available integrated instrument, called the "MetaOx", designed to enable simultaneous FD-NIRS and DCS measurements at rates of 10 + Hz, and offering real-time data evaluation...
September 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/29022055/illness-perceptions-are-associated-with-quality-of-life-in-patients-with-fibrous-dysplasia
#13
B C J Majoor, C D Andela, C R Quispel, M Rotman, P D S Dijkstra, N A T Hamdy, A A Kaptein, N M Appelman-Dijkstra
Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Ninety-seven out of 138 eligible patients from the LUMC FD cohort completed the Illness Perception Questionnaire-Revised (IPQ-R) and the Short Form-36 (SF-36)...
October 11, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29021923/toward-a-personalized-real-time-diagnosis-in-neonatal-seizure-detection
#14
Andriy Temko, Achintya Kr Sarkar, Geraldine B Boylan, Sean Mathieson, William P Marnane, Gordon Lightbody
The problem of creating a personalized seizure detection algorithm for newborns is tackled in this paper. A probabilistic framework for semi-supervised adaptation of a generic patient-independent neonatal seizure detector is proposed. A system that is based on a combination of patient-adaptive (generative) and patient-independent (discriminative) classifiers is designed and evaluated on a large database of unedited continuous multichannel neonatal EEG recordings of over 800 h in duration. It is shown that an improvement in the detection of neonatal seizures over the course of long EEG recordings is achievable with on-the-fly incorporation of patient-specific EEG characteristics...
2017: IEEE Journal of Translational Engineering in Health and Medicine
https://www.readbyqxmd.com/read/29021437/a-systematic-review-of-the-effectiveness-of-antianxiety-and-antidepressive-agents-for-functional-dyspepsia
#15
Mariko Hojo, Akihito Nagahara, Daisuke Asaoka, Yuji Shimada, Sasaki Hitoshi, Kohei Matsumoto, Tsutomu Takeda, Hiroya Ueyama, Kenshi Matsumoto, Sumio Watanabe
Background and Aim Functional dyspepsia (FD) is defined as persistent or recurrent pain or discomfort centered in the upper abdomen without organic disease. Psychosocial factors have been proposed as an important element in the pathophysiology of FD. Therefore, psychotropic agents having antianxiety or antidepressive action are expected to alleviate FD. We previously reported on the treatment of FD using such agents in a systematic review, wherein the effectiveness of the agents on FD was suggested, although there were several limitations...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28993252/h-d-exchange-mass-spectrometry-and-statistical-coupling-analysis-reveal-a-role-for-allostery-in-a-ferredoxin-dependent-bifurcating-transhydrogenase-catalytic-cycle
#16
Luke Berry, Saroj Poudel, Monika Tokmina-Lukaszewska, Daniel R Colman, Diep M N Nguyen, Gerrit J Schut, Michael W W Adams, John W Peters, Eric S Boyd, Brian Bothner
Recent investigations into ferredoxin-dependent transhydrogenases, a class of enzymes responsible for electron transport, have highlighted the biological importance of flavin-based electron bifurcation (FBEB). FBEB generates biomolecules with very low reduction potential by coupling the oxidation of an electron donor with intermediate potential to the reduction of high and low potential molecules. Bifurcating systems can generate biomolecules with very low reduction potentials, such as reduced ferredoxin (Fd), from species such as NADPH...
October 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28992677/nationwide-multicenter-study-for-overlaps-of-common-functional-gastrointestinal-disorders-in-korean-patients-with-constipation
#17
Kyung Sik Park, Sam Ryong Jee, Bong Eun Lee, Kyoung Sup Hong, Jeong Eun Shin, Soo-Young Na, Joong Goo Kwon, Suck Chei Choi, Yong Sung Kim, Hyun Seok Lee, Tae Hee Lee, Kyeong Ok Kim, Jongkyoung Choi, Hee Seok Moon, Yeon Soo Kim, Moo In Park, Soo Jung Park, Seon-Young Park, Sung Noh Hong
Background/Aims: In spite of increased concerns about the overlaps among the various functional gastrointestinal disorders (FGIDs), studies for the overlap between constipation and other common FGIDs are rare. Therefore, we investigated the patterns of overlaps between constipation and other common FGIDs. Methods: This study was designed as a prospective nationwide multi-center questionnaire study using Rome III questionnaires for functional dyspepsia (FD), irritable bowel syndrome (IBS), and functional constipation (FC), as well as various questionnaires about patients' information, degree of symptoms, and quality of life...
October 30, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/28992314/nutritional-therapy-reduces-protein-carbamylation-through-urea-lowering-in-chronic-kidney-disease
#18
Biagio R Di Iorio, Stefania Marzocco, Antonio Bellasi, Emanuele De Simone, Fabrizio Dal Piaz, Maria Teresa Rocchetti, Carmela Cosola, Lucia Di Micco, Loreto Gesualdo
Background: Protein carbamylation is one of the non-enzymatic reactions involved in protein molecular ageing. We sought to investigate the relationship between urea levels and protein carbamylation, and whether a Mediterranean diet (MD) and a very low protein diet (VLPD) reduce protein carbamylation through reduction in urea levels in patients with chronic kidney disease (CKD). Methods: This is a prospective, randomized, crossover controlled trial that investigated 60 patients with CKD grades 3B-4 (46 males, mean age of 67 years)...
July 11, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28988177/fabry-disease-due-to-d313y-and-novel-gla-mutations
#19
Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis
OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study. PRIMARY AND SECONDARY OUTCOME MEASURES: Genotyping and measurement of lyso-Gb3 was performed in all individuals...
October 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28985370/maintained-effect-of-a-training-program-on-attitudes-towards-depression-in-family-physicians
#20
Ricardo Manzanera, Guillermo Lahera, Miguel Ángel Álvarez-Mon, Melchor Alvarez-Mon
Background: Family doctors' (FD) attitudes likely play an important role in the recognition and management of depression. Objective: The purpose of the study was to prospectively analyse the short-term and long-term impact of a specifically designed training program on attitudes towards depression among FDs. Methods: A prospective, educational intervention, single group pre- and post-test study with three assessments (pre, post, and 6-month follow-up) was conducted...
July 23, 2017: Family Practice
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