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https://www.readbyqxmd.com/read/28918368/gnptab-missense-mutations-cause-loss-of-glcnac-1-phosphotransferase-activity-in-mucolipidosis-type-ii-through-distinct-mechanisms
#1
Nataniel Floriano Ludwig, Renata Voltolini Velho, Fernanda Sperb-Ludwig, Angelina Xavier Acosta, Erlane Marques Ribeiro, Chong Kim, Dafne Dain Gandelman Horovitz, Raquel Boy, Maria Juliana Rodovalho-Doriqui, Charles Marques Lourenço, Emerson Santana Santos, Thomas Braulke, Sandra Pohl, Ida Vanessa D Schwartz
Mucolipidoses (ML) II and III alpha/beta are lysosomal storage diseases caused by pathogenic mutations in GNPTAB encoding the α⁄β-subunit precursor of GlcNAc-1-phosphotransferase. To determine genotype-phenotype correlation and functional analysis of mutant GlcNAc-1-phosphotransferase, 13 Brazilian patients clinically and biochemical diagnosed for MLII or III alpha/beta were studied. By sequencing of genomic GNPTAB of the MLII and MLIII alpha/beta patients we identified six novel mutations: p.D76G, p.S385L, p...
September 13, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28917879/laccase-tempo-oxidation-in-the-production-of-mechanically-strong-arabinoxylan-and-glucomannan-aerogels
#2
Kirsti Parikka, Ida Nikkilä, Leena Pitkänen, Abdul Ghafar, Tuula Sontag-Strohm, Maija Tenkanen
New wheat arabinoxylan and konjac glucomannan hydrogels and aerogels were prepared by hemiacetal crosslinking induced by laccase/TEMPO (2,2,6,6-tetramethylpiperidine-1-oxyl) -catalysed oxidation, which selectively converts the primary hydroxyl groups to aldehydes. The degree of oxidation of the product aldehydes was ca. 10% of the total carbohydrates of the polysaccharides, and the determination of storage and viscous moduli of the oxidised samples showed that they had formed true hydrogels. Two freezing methods for the hydrogels, conventional freezing and ice crystal templating, were investigated for aerogel production, the ice crystal templated products especially were mechanically strong in compression test against the ice crystals' growth direction...
November 1, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28917756/facile-synthesis-of-copper-ii-decorated-functional-mesoporous-material-for-specific-adsorption-of-histidine-rich-proteins
#3
Jiaojiao Wang, Rui Zhang, Xiaxia Yang, Xiaoyan Liu, Haixia Zhang
The Cu(2+)-decorated functional mesoporous material was fabricated by thermally initiated free-radical polymerization of octavinyl polyhedral oligomeric silsesquioxane. It was used as adsorbent for highly specific separation of histidine (His)-rich proteins in blood and cell lysate based on immobilized metal affinity chromatography. The functional mesoporous material (named as PPOSS-IDA-Cu(2+)) was characterized in detail and its selectivity and binding capacity were evaluated using a His-rich protein (bovine hemoglobin, BHb) and other proteins (bovine serum albumin, myoglobin, lysozyme and horseradish peroxidase) containing fewer surface-exposed His residues as model proteins...
January 1, 2018: Talanta
https://www.readbyqxmd.com/read/28917271/cognitive-impairment-and-chemotherapy-a-brief-overview
#4
REVIEW
Milena Vitali, Carla Ida Ripamonti, Fausto Roila, Claudia Proto, Diego Signorelli, Martina Imbimbo, Giulia Corrao, Angela Brissa, Gallucci Rosaria, Filippo de Braud, Marina Chiara Garassino, Giuseppe Lo Russo
Patients with cancer are experiencing long-term survival following chemotherapy, but the treatment may also be associated with short and long-term toxicity, including the possibility of cognitive dysfunction. A literature overview indicated a significant association between chemotherapy and cognitive impairment but prospective longitudinal research is warranted to examine the degree and persisting nature of this decline. Although chemotherapeutic agents are unlikely to cross the blood-brain barrier, it has been alleged that the occurrence of neurotoxicity is linked to the pro-inflammatory cytokine pathways...
October 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28916811/an-enu-induced-splice-site-mutation-of-mouse-col1a1-causing-recessive-osteogenesis-imperfecta-and-revealing-a-novel-splicing-rescue
#5
Koichi Tabeta, Xin Du, Kei Arimatsu, Mai Yokoji, Naoki Takahashi, Norio Amizuka, Tomoka Hasegawa, Karine Crozat, Tomoki Maekawa, Sayuri Miyauchi, Yumi Matsuda, Takako Ida, Masaru Kaku, Kasper Hoebe, Kinji Ohno, Hiromasa Yoshie, Kazuhisa Yamazaki, Eva Marie Y Moresco, Bruce Beutler
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated with fragile bones and susceptibility to fractures (spine and limbs). A single nucleotide transversion (T → A) at the second position of intron 36 of the Col1a1 gene, encoding the type I collagen, α1 chain, was responsible for the phenotype...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28916030/fellowship-candidate-selection-at-the-best-medical-center-a-novel-process
#6
Philip R Cohen
Dr. Ida Lystic completed her MD degree at the prestigious Harvey Medical School (which has since been renamed the Harvey Provider School) and her residency in internal medicine and gastroenterology fellowship at the OTHER (Owen T. Henry and Eugene Rutherford) Medical Center. She was subsequently hired as an assistant professor at the BEST (Byron Edwards and Samuel Thompson) Medical Center in 2015. After eventually completing an extensive list of employment requirements, she was able to begin seeing patients...
September 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28911612/effects-of-carbonyl-iron-powder-on-iron-deficiency-anemia-and-its-subchronic-toxicity
#7
Qiaosha Zhu, Yang Qian, Ying Yang, Weifeng Wu, Jingli Xie, Dongzhi Wei
Carbonyl iron powder (CIP) has been used as a food additive or mineral supplement. However, the effects of CIP on iron deficiency anemia (IDA) and its subchronic toxicity have not been investigated. We found that oral administration of CIP at a dose of 2.96 mg/kg recovered the hemoglobin concentration of erythrocytes of IDA rats to the normal level after 8 days. The no observed adverse effect level of CIP in rats was considered to be > 200 mg/kg. The hematological and serum biochemical parameters of the rats did not differ significantly between the control and treated groups...
October 2016: Journal of Food and Drug Analysis
https://www.readbyqxmd.com/read/28911189/long-working-hours-as-a-risk-factor-for-atrial-fibrillation-a-multi-cohort-study
#8
Mika Kivimäki, Solja T Nyberg, G David Batty, Ichiro Kawachi, Markus Jokela, Lars Alfredsson, Jakob B Bjorner, Marianne Borritz, Hermann Burr, Nico Dragano, Eleonor I Fransson, Katriina Heikkilä, Anders Knutsson, Markku Koskenvuo, Meena Kumari, Ida E H Madsen, Martin L Nielsen, Maria Nordin, Tuula Oksanen, Jan H Pejtersen, Jaana Pentti, Reiner Rugulies, Paula Salo, Martin J Shipley, Sakari Suominen, Töres Theorell, Jussi Vahtera, Peter Westerholm, Hugo Westerlund, Andrew Steptoe, Archana Singh-Manoux, Mark Hamer, Jane E Ferrie, Marianna Virtanen, Adam G Tabak
Aims: Studies suggest that people who work long hours are at increased risk of stroke, but the association of long working hours with atrial fibrillation, the most common cardiac arrhythmia and a risk factor for stroke, is unknown. We examined the risk of atrial fibrillation in individuals working long hours (≥55 per week) and those working standard 35-40 h/week. Methods and results: In this prospective multi-cohort study from the Individual-Participant-Data Meta-analysis in Working Populations (IPD-Work) Consortium, the study population was 85 494 working men and women (mean age 43...
September 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28903818/responses-to-drs-perkins-and-lipman-s-letter-to-the-editor
#9
Ida Washington, Mark Payton
No abstract text is available yet for this article.
September 1, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/28901214/total-dose-iron-dextran-infusion-versus-oral-iron-for-treating-iron-deficiency-anemia-in-pregnant-women-a-randomized-controlled-trial
#10
A M Darwish, E E Khalifa, E Rashad, E Farghally
STUDY OBJECTIVE: To test safety, efficacy and cost-effectiveness of total dose infusion (TDI) of low molecular weight (LMW) iron dextran for treatment of iron deficiency anemia (IDA) during pregnancy in comparison to oral ferrous fumarate. DESIGN: Prospective interventional randomized controlled trial (RCT). Design classification. Canadian Task Force II3. SETTING: Antenatal clinic and causality unit of a tertiary care referral facility and University Hospital...
September 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28899747/a-neural-signature-of-food-semantics-is-associated-with-body-mass-index
#11
Giulio Pergola, Francesco Foroni, Paola Mengotti, Georgette Argiris, Raffaella Ida Rumiati
Visual recognition of objects may rely on different features depending on the category to which they belong. Recognizing natural objects, such as fruits and plants, weighs more on their perceptual attributes, whereas recognizing man-made objects, such as tools or vehicles, weighs more upon the functions and actions they enable. Edible objects are perceptually rich but also prepared for specific functions, therefore it is unclear how perceptual and functional attributes affect their recognition. Two event-related potentials experiments investigated: (i) whether food categorization in the brain is differentially modulated by sensory and functional attributes, depending on whether the food is natural or transformed; (ii) whether these processes are modulated by participants' body mass index...
September 9, 2017: Biological Psychology
https://www.readbyqxmd.com/read/28899711/colorectal-cancer-screening-associations-between-information-provision-attitudes-and-intended-participation
#12
Stephanie D Brandhof, Angela Fagerlin, Sarah Hawley, Esther Toes-Zoutendijk, Lyndal Trevena, Kirsten McCaffery, Ida J Korfage
OBJECTIVE: Properly informing target audiences is crucial in population-based screening programs. We aimed to evaluate the impact of information about CRC screening on attitudes and intended participation in a screening-naive population. METHODS: 614 persons (aged 55-75 years) received a survey. Information on CRC and screening was provided piece by piece, and per piece its impact on attitudes and intended participation was assessed. All persons received the same information content, but the sequence of information differed per condition: information on the high mortality rate of colorectal cancer was presented in the first or the second piece...
September 9, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28898469/establishing-a-regional-paediatric-registry-improved-the-overview-and-detection-of-side-effects-in-children-on-anticoagulants
#13
Ida Jeremiasen, Katarina Hanséus, Pernilla Naumann, Camilla Nilsson, Ulf Tedgård, Peter J Svensson, Nadine G Andersson
The use of oral anticoagulants is rarer in children than adults, but studies indicate that their paediatric use is increasing (1). Warfarin has been used in children, at the discretion of the treating physician, but both the number of children and the data on its use are limited (2). There is also a lack of experience on the use of new oral anticoagulants for children. This article is protected by copyright. All rights reserved.
September 12, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28898252/impact-of-common-genetic-determinants-of-hemoglobin-a1c-on-type-2-diabetes-risk-and-diagnosis-in-ancestrally-diverse-populations-a-transethnic-genome-wide-meta-analysis
#14
Eleanor Wheeler, Aaron Leong, Ching-Ti Liu, Marie-France Hivert, Rona J Strawbridge, Clara Podmore, Man Li, Jie Yao, Xueling Sim, Jaeyoung Hong, Audrey Y Chu, Weihua Zhang, Xu Wang, Peng Chen, Nisa M Maruthur, Bianca C Porneala, Stephen J Sharp, Yucheng Jia, Edmond K Kabagambe, Li-Ching Chang, Wei-Min Chen, Cathy E Elks, Daniel S Evans, Qiao Fan, Franco Giulianini, Min Jin Go, Jouke-Jan Hottenga, Yao Hu, Anne U Jackson, Stavroula Kanoni, Young Jin Kim, Marcus E Kleber, Claes Ladenvall, Cecile Lecoeur, Sing-Hui Lim, Yingchang Lu, Anubha Mahajan, Carola Marzi, Mike A Nalls, Pau Navarro, Ilja M Nolte, Lynda M Rose, Denis V Rybin, Serena Sanna, Yuan Shi, Daniel O Stram, Fumihiko Takeuchi, Shu Pei Tan, Peter J van der Most, Jana V Van Vliet-Ostaptchouk, Andrew Wong, Loic Yengo, Wanting Zhao, Anuj Goel, Maria Teresa Martinez Larrad, Dörte Radke, Perttu Salo, Toshiko Tanaka, Erik P A van Iperen, Goncalo Abecasis, Saima Afaq, Behrooz Z Alizadeh, Alain G Bertoni, Amelie Bonnefond, Yvonne Böttcher, Erwin P Bottinger, Harry Campbell, Olga D Carlson, Chien-Hsiun Chen, Yoon Shin Cho, W Timothy Garvey, Christian Gieger, Mark O Goodarzi, Harald Grallert, Anders Hamsten, Catharina A Hartman, Christian Herder, Chao Agnes Hsiung, Jie Huang, Michiya Igase, Masato Isono, Tomohiro Katsuya, Chiea-Chuen Khor, Wieland Kiess, Katsuhiko Kohara, Peter Kovacs, Juyoung Lee, Wen-Jane Lee, Benjamin Lehne, Huaixing Li, Jianjun Liu, Stephane Lobbens, Jian'an Luan, Valeriya Lyssenko, Thomas Meitinger, Tetsuro Miki, Iva Miljkovic, Sanghoon Moon, Antonella Mulas, Gabriele Müller, Martina Müller-Nurasyid, Ramaiah Nagaraja, Matthias Nauck, James S Pankow, Ozren Polasek, Inga Prokopenko, Paula S Ramos, Laura Rasmussen-Torvik, Wolfgang Rathmann, Stephen S Rich, Neil R Robertson, Michael Roden, Ronan Roussel, Igor Rudan, Robert A Scott, William R Scott, Bengt Sennblad, David S Siscovick, Konstantin Strauch, Liang Sun, Morris Swertz, Salman M Tajuddin, Kent D Taylor, Yik-Ying Teo, Yih Chung Tham, Anke Tönjes, Nicholas J Wareham, Gonneke Willemsen, Tom Wilsgaard, Aroon D Hingorani, Josephine Egan, Luigi Ferrucci, G Kees Hovingh, Antti Jula, Mika Kivimaki, Meena Kumari, Inger Njølstad, Colin N A Palmer, Manuel Serrano Ríos, Michael Stumvoll, Hugh Watkins, Tin Aung, Matthias Blüher, Michael Boehnke, Dorret I Boomsma, Stefan R Bornstein, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Yduan-Tsong Chen, Ching-Yu Cheng, Francesco Cucca, Eco J C de Geus, Panos Deloukas, Michele K Evans, Myriam Fornage, Yechiel Friedlander, Philippe Froguel, Leif Groop, Myron D Gross, Tamara B Harris, Caroline Hayward, Chew-Kiat Heng, Erik Ingelsson, Norihiro Kato, Bong-Jo Kim, Woon-Puay Koh, Jaspal S Kooner, Antje Körner, Diana Kuh, Johanna Kuusisto, Markku Laakso, Xu Lin, Yongmei Liu, Ruth J F Loos, Patrik K E Magnusson, Winfried März, Mark I McCarthy, Albertine J Oldehinkel, Ken K Ong, Nancy L Pedersen, Mark A Pereira, Annette Peters, Paul M Ridker, Charumathi Sabanayagam, Michele Sale, Danish Saleheen, Juha Saltevo, Peter Eh Schwarz, Wayne H H Sheu, Harold Snieder, Timothy D Spector, Yasuharu Tabara, Jaakko Tuomilehto, Rob M van Dam, James G Wilson, James F Wilson, Bruce H R Wolffenbuttel, Tien Yin Wong, Jer-Yuarn Wu, Jian-Min Yuan, Alan B Zonderman, Nicole Soranzo, Xiuqing Guo, David J Roberts, Jose C Florez, Robert Sladek, Josée Dupuis, Andrew P Morris, E-Shyong Tai, Elizabeth Selvin, Jerome I Rotter, Claudia Langenberg, Inês Barroso, James B Meigs
BACKGROUND: Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and assess glycemic control in patients with diabetes. Previous genome-wide association studies (GWAS) have identified 18 HbA1c-associated genetic variants. These variants proved to be classifiable by their likely biological action as erythrocytic (also associated with erythrocyte traits) or glycemic (associated with other glucose-related traits). In this study, we tested the hypotheses that, in a very large scale GWAS, we would identify more genetic variants associated with HbA1c and that HbA1c variants implicated in erythrocytic biology would affect the diagnostic accuracy of HbA1c...
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28895030/type-2-diabetes-and-cardiovascular-prevention-the-dogmas-disputed
#15
Dario Giugliano, Maria Ida Maiorino, Giuseppe Bellastella, Katherine Esposito
In randomized controlled trials (RCTs), more intensive glucose control in patients with type 2 diabetes leads to a modest (9%) reduction in major cardiovascular events (MACE), associated with a 20% reduction of kidney events and 13% reduction of eye events. The FDA issued guidance in 2008 led to the conduct of numerous cardiovascular outcomes (CVOT) trials to assess cardiovascular safety of new antihyperglycemic therapies in patients with type 2 diabetes. The results of these trials show that insulin glargine, three different dipeptidyl peptidase-4 (DPP-4) inhibitors (saxagliptin, alogliptin, and sitagliptin) and lixisenatide (a glucagon like peptide-1 receptor agonist) produce no significant difference in CVOT when compared with usual care or placebo...
September 11, 2017: Endocrine
https://www.readbyqxmd.com/read/28894406/identification-of-rotavirus-strains-causing-diarrhoea-in-children-under-five-years-of-age-in-yogyakarta-indonesia
#16
Hera Nirwati, Mohamad Saifudin Hakim, Sri Aminah, Ida Bagus Nyoman Putra Dwija, Qiuwei Pan, Abu Tholib Aman
BACKGROUND: Rotavirus is an important cause of severe diarrhoea in children. The aims of this study were to identify the rotavirus strains that cause diarrhoea in children in Yogyakarta and to determine the association between rotavirus positivity and its clinical manifestations. METHODS: Clinical data and stool samples were collected from children hospitalised at Kodya Yogyakarta Hospital, Indonesia. Rotavirus was detected in stool samples using an enzyme immunoassay (EIA), which was followed by genotyping using reverse transcriptase polymerase chain reaction (RT-PCR)...
March 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28893462/developing-drugs-in-cancer-related-bone-pain
#17
REVIEW
Maurizio Lucchesi, Gaetano Lanzetta, Andrea Antonuzzo, Antonio Rozzi, Iacopo Sardi, Claudio Favre, Carla Ida Ripamonti, Daniele Santini, Grazia Armento
INTRODUCTION: Cancer-related bone pain is a frequent and important key problem for metastatic patients that may reduce quality of life, with related limitations in daily activities and morbidity. Often traditional approach to pain may fail given the complex pathophysiology of this phenomenon. METHODS: The aim of this review is to describe promising therapies for cancer-related bone pain, from the pathophysiology to the clinical trials currently ongoing. Moreover, any new evidence for better approach to cancer-related bone pain with the traditional drugs is also considered...
August 25, 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28892495/chlamydomonas-dyx1c1-pf23-is-essential-for-axonemal-assembly-and-proper-morphology-of-inner-dynein-arms
#18
Ryosuke Yamamoto, Jagan M Obbineni, Lea M Alford, Takahiro Ide, Mikito Owa, Juyeon Hwang, Takahide Kon, Kazuo Inaba, Noliyanda James, Stephen M King, Takashi Ishikawa, Winfield S Sale, Susan K Dutcher
Cytoplasmic assembly of ciliary dyneins, a process known as preassembly, requires numerous non-dynein proteins, but the identities and functions of these proteins are not fully elucidated. Here, we show that the classical Chlamydomonas motility mutant pf23 is defective in the Chlamydomonas homolog of DYX1C1. The pf23 mutant has a 494 bp deletion in the DYX1C1 gene and expresses a shorter DYX1C1 protein in the cytoplasm. Structural analyses, using cryo-ET, reveal that pf23 axonemes lack most of the inner dynein arms...
September 11, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28891657/the-role-of-a-common-is-moral-heuristic-in-the-stability-and-change-of-moral-norms
#19
Björn Lindström, Simon Jangard, Ida Selbing, Andreas Olsson
Moral norms are fundamental for virtually all social interactions, including cooperation. Moral norms develop and change, but the mechanisms underlying when, and how, such changes occur are not well-described by theories of moral psychology. We tested, and confirmed, the hypothesis that the commonness of an observed behavior consistently influences its moral status, which we refer to as the common is moral (CIM) heuristic. In 9 experiments, we used an experimental model of dynamic social interaction that manipulated the commonness of altruistic and selfish behaviors to examine the change of peoples' moral judgments...
September 11, 2017: Journal of Experimental Psychology. General
https://www.readbyqxmd.com/read/28889788/exploring-perspectives-on-restraint-during-medical-procedures-in-paediatric-care-a-qualitative-interview-study-with-nurses-and-physicians
#20
Edel Jannecke Svendsen, Reidar Pedersen, Anne Moen, Ida Torunn Bjørk
The aim of this study was to explore nurses' and physicians' perspectives on and reasoning about the use of restraint during medical procedures on newly admitted preschoolers in somatic hospital care. We analysed qualitative data from individual interviews with a video recall session at the end with seven physicians and eight nurses. They had earlier participated in video recorded peripheral vein cannulations on preschool children. The data were collected between May 2012 and May 2013 at a paediatric hospital unit in Norway...
December 2017: International Journal of Qualitative Studies on Health and Well-being
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