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https://www.readbyqxmd.com/read/28428354/multiplex-tandem-mass-spectrometry-enzymatic-activity-assay-for-newborn-screening-of-the-mucopolysaccharidoses-and-type-2-neuronal-ceroid-lipofuscinosis
#1
Yang Liu, Fan Yi, Arun Babu Kumar, Naveen Kumar Chennamaneni, Xinying Hong, C Ronald Scott, Michael H Gelb, Frantisek Turecek
BACKGROUND: We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL). METHODS: New substrates were prepared and char-acterized for tripeptidyl peptidase 1 (TPP1), α-N-acetylglucosaminidase (NAGLU), and lysosomal β-glucuronidase (GUSB)...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28410878/efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-a-systematic-review-and-meta-analysis
#2
Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, Álvaro Hermida-Ameijeiras, Marc Moltó-Abad
BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. OBJECTIVE: To assess every effectiveness variable modified in MPS-I patients who initiated laronidase at adult age. METHODS: A systematic search of the literature, from inception to July 2016, was conducted using MEDLINE, EMBASE, CENTRAL and LILACS to identify randomized trials or observational studies including ≥1 MPS-I patients with ERT initiated in adult age (≥18years) and evaluating ERT efficacy...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28403128/an-oxygenated-and-transportable-machine-perfusion-system-fully-rescues-liver-grafts-exposed-to-lethal-ischemic-damage-in-a-pig-model-of-dcd-liver-transplantation
#3
Philippe Compagnon, Eric Levesque, Hassen Hentati, Mara Disabato, Julien Calderaro, Cyrille Feray, Anne Corlu, José Laurent Cohen, Ismail Ben Mosbah, Daniel Azoulay
BACKGROUND: Control of warm ischemia (WI) lesions that occur with donation after circulatory death (DCD) would significantly increase the donor pool for liver transplantation. We aimed to determine whether a novel, oxygenated and hypothermic machine perfusion device (HMP Airdrive system) improves the quality of livers derived from DCDs using a large animal model. METHODS: Cardiac arrest was induced in female large white pigs by IV injection of potassium chloride...
April 11, 2017: Transplantation
https://www.readbyqxmd.com/read/28383714/a-systems-approach-identifies-time-dependent-associations-of-multimorbidities-with-pancreatic-cancer-risk
#4
P Gomez-Rubio, V Rosato, M Marquez, C Bosetti, E Molina-Montes, M Rava, J Piñero, C W Michalski, A Farré, X Molero, M Löhr, L Ilzarbe, J Perea, W Greenhalf, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, L Muñoz-Bellvís, E Domínguez-Muñoz, A Gutiérrez-Sacristán, J Balsells, E Costello, C Guillén-Ponce, J Huang, M Iglesias, J Kleeff, B Kong, J Mora, L Murray, D O'Driscoll, P Peláez, I Poves, R T Lawlor, A Carrato, M Hidalgo, A Scarpa, L Sharp, L I Furlong, F X Real, C La Vecchia, N Malats
Background: HASH(0x38b68a0) Pancreatic ductal adenocarcinoma (PDAC) is usually diagnosed in late adulthood; therefore, many patients suffer or have suffered from other diseases. Identifying disease-patterns associated with PDAC risk may enable a better characterization of high-risk patients. Methods: HASH(0x38aaee0) Multimorbidity patterns (MPs) were assessed from 17 self-reported conditions using hierarchical clustering, principal component, and factor analyses in 1705 PDAC cases and 1084 controls from a European population...
April 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28380184/smoking-among-female-sex-workers-prevalence-and-associated-variables
#5
Ligia Lopes Devóglio, José Eduardo Corrente, Maria Helena Borgato, Ilda de Godoy
Objective: To assess the prevalence of smoking and associated variables in female sex workers (FSWs). Methods: This was a quantitative cross-sectional study involving FSWs in the city of Botucatu, Brazil, who completed a sociodemographic questionnaire, including data regarding smoking status, motivational stage of change, and degree of nicotine dependence, as well as the Perceived Stress Scale and the Hospital Anxiety and Depression Scale. Results: We included 83 FSWs...
January 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28345787/non-motor-symptoms-and-quality-of-life-in-subjects-with-mild-parkinsonian-signs
#6
J Prasuhn, L Piskol, E-J Vollstedt, J Graf, A Schmidt, V Tadic, S Tunc, J Hampf, E Warrlich, C Bibergeil, J Hagenah, C Klein, M Kasten, N Brüggemann
BACKGROUND: Mild parkinsonian signs (MPS) are frequent in the elderly population and associated with the presence of risk markers for Parkinson's disease (PD). Both MPS and non-motor signs may be present in prodromal PD and may significantly impair quality of life (QoL). OBJECTIVE: To disentangle the contribution of motor impairment and extra-motor manifestations to QoL in subjects with MPS (n=63), manifest PD (n=69), disorders with motor symptoms due to non-neurodegenerative diseases (n=213) and healthy controls (n=258)...
March 27, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28343930/cost-effectiveness-of-different-post-retained-restorations
#7
Falk Schwendicke, Michael Stolpe
OBJECTIVES: Dentists can choose between metal and fiber post systems to provide post-retained restorations. The risk of tooth loss and other complications differs between different post systems, as do the initial treatment costs. We aimed to assess the cost-effectiveness of (1) cast metal (MC), (2) preformed metal (MP), (3) glass fiber (GF), and (4) carbon fiber (CF) post-retained restorations. METHODS: A mixed public-private payer's perspective within German healthcare was taken...
March 23, 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/28342353/preparation-of-a-surface-grafted-imprinted-ceramic-membrane-for-selective-separation-of-molybdate-anion-from-water-solutions
#8
Jianxian Zeng, Zhihui Dong, Zhe Zhang, Yuan Liu
A surface-grafted imprinted ceramic membrane (IIP-PVI/CM) for recognizing molybdate (Mo(VI)) anion was prepared by surface-initiated graft-polymerization. Firstly, raw alumina ceramic membrane (CM) was deposited with SiO2 active layer by situ hydrolysis deposition method. Subsequently, γ-methacryloxy propyl trimethoxyl silane (MPS) was used as a coupling agent to introduce double bonds onto the SiO2 layer (MPS-CM). Then, 1-vinylimidazole (VI) was employed as a functional monomer to graft-polymerization onto the MPS-CM (PVI-CM)...
March 9, 2017: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/28342324/short-bursts-of-cyclic-mechanical-compression-modulate-tissue-formation-in-a-3d-hybrid-scaffold
#9
M Brunelli, C M Perrault, D Lacroix
Among the cues affecting cells behaviour, mechanical stimuli are known to have a key role in tissue formation and mineralization of bone cells. While soft scaffolds are better at mimicking the extracellular environment, they cannot withstand the high loads required to be efficient substitutes for bone in vivo. We propose a 3D hybrid scaffold combining the load-bearing capabilities of polycaprolactone (PCL) and the ECM-like chemistry of collagen gel to support the dynamic mechanical differentiation of human embryonic mesodermal progenitor cells (hES-MPs)...
March 18, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28341051/whey-protein-derived-exosomes-increase-protein-synthesis-and-hypertrophy-in-c2-c12-myotubes
#10
C Brooks Mobley, Petey W Mumford, John J McCarthy, Michael E Miller, Kaelin C Young, Jeffrey S Martin, Darren T Beck, Christopher M Lockwood, Michael D Roberts
We sought to examine potential amino acid independent mechanisms whereby hydrolyzed whey protein (WP) affects muscle protein synthesis (MPS) and anabolism in vitro. Specifically, we tested (1) whether 3-h and 6-h treatments of WP, essential amino acids, or l-leucine (Leu) affected MPS, and whether 6-h treatments with low-, medium-, or high doses of WP versus Leu affected MPS; (2) whether knockdown of the primary Leu transporter affected WP- and Leu-mediated changes in MPS, mammalian target of rapamycin (mTOR) signaling responses, or both, following 6-h treatments; (3) whether exosomes isolated from WP (WP-EXO) affected MPS, mTOR signaling responses, or both, compared with untreated (control) myotubes, following 6-h, 12-h, and 24-h treatments, and whether they affected myotube diameter following 24-h and 48-h treatments...
January 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28337456/comparison-of-the-protective-effects-of-individual-components-of-particulated-trans-sialidase-ptcts-ptc-and-ts-against-high-cholesterol-diet-induced-atherosclerosis-in-rabbits
#11
Shérrira M Garavelo, Maria de Lourdes Higuchi, Jaqueline J Pereira, Marcia M Reis, Joyce T Kawakami, Renata N Ikegami, Suely A P Palomino, Nilsa S Y Wadt, Abdelali Agouni
Previous studies showed the presence of Mycoplasma pneumoniae (M. pneumoniae) and membrane-shed microparticles (MPs) in vulnerable atherosclerotic plaques. H&S Science and Biotechnology developed PTCTS, composed by natural particles from medicinal plants (PTC) combined with trans-Sialidase (TS), to combat MPs and Mycoplasma pneumoniae. Our aim was to determine the effects of the different components of PTCTS in a rabbit model of atherosclerosis. Rabbits were fed with high cholesterol diet for 12 weeks and treated during the last 6 weeks with either vehicle, PTC, TS, or PTCTS...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28299921/physical-training-improves-myocardial-perfusion-but-not-left-ventricular-function-response-to-exercise-in-patients-with-microvascular-angina
#12
Eduardo E Carvalho, Júlio C Crescêncio, Giovani L Santi, Luciano F Oliveira, Pedro V Schwartzmann, Lourenço Gallo, José A Marin-Neto, Marcus V Simões
BACKGROUND: Patients with primary microvascular angina (PMA) commonly exhibit abnormal left ventricular function (LVF) during exercise, potentially owing to myocardial ischemia. Herein, we investigated n PMA patients the effect of the reduction of myocardial perfusion disorders, by using aerobic physical training, upon LVF response to exercise. METHODS: Overall, 15 patients (mean age, 53.7±8.9 years) with PMA and 15 healthy controls (mean age, 51.0±9.4 years) were studied...
March 16, 2017: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28295384/noninvasive-fetal-genotyping-of-paternally-inherited-alleles-using-targeted-massively-parallel-sequencing-in-parentage-testing-cases
#13
Donggui Yang, Hao Liang, Yu Gao, Shaobin Lin, Zhiming He, Jun Gao, Hongyu Sun, Qing Li, Xiaoyan Ma, Xueling Ou
BACKGROUND: Researchers have sought to develop a noninvasive protocol for paternity analysis that uses fetal cell-free DNA (cfDNA) in maternal plasma. Massively parallel sequencing (MPS) is expected to overcome this challenge because it enables the analysis of millions of DNA molecules at a single-base resolution. STUDY DESIGN AND METHODS: Seven women were involved in prenatal paternity testing cases. Before conventional invasive procedures, cfDNA was isolated from maternal plasma...
March 10, 2017: Transfusion
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#14
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28285200/enhanced-photocurrent-production-by-the-synergy-of-hematite-nanowire-arrayed-photoanode-and-bioengineered-shewanella-oneidensis-mr-1
#15
Gaolong Zhu, Yun Yang, Juan Liu, Feng Liu, Anhuai Lu, Weidong He
Coupling the light-harvesting capabilities of semiconductors with the catalytic power of bacteria is a promising way to increase the efficiency of bioelectrochemical systems. Here, we reported the enhanced photocurrents produced by the synergy of hematite nanowire-arrayed photoanode and the bio-engineered Shewanella oneidensis MR-1 in a solar-assisted microbial photoelectrochemical system (solar MPS) under the visible light. To increase the supply of bioelectrons, the D-lactate transporter, SO1522, was overexpressed in the recombinant S...
March 8, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28273507/flanking-region-variation-of-forenseq%C3%A2-dna-signature-prep-kit-str-and-snp-loci-in-yavapai-native-americans
#16
Frank R Wendt, Jonathan L King, Nicole M M Novroski, Jennifer D Churchill, Jillian Ng, Robert F Oldt, Kelly L McCulloh, Jessica A Weise, David Glenn Smith, Sreetharan Kanthaswamy, Bruce Budowle
Massively parallel sequencing (MPS) offers advantages over current capillary electrophoresis-based analysis of short tandem repeat (STR) loci for human identification testing. In particular STR repeat motif sequence information can be obtained, thereby increasing the discrimination power of some loci. While sequence variation within the repeat region is observed relatively frequently in some of the commonly used STRs, there is an additional degree of variation found in the flanking regions adjacent to the repeat motif...
February 27, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28264742/differential-surface-glycoprofile-of-buffalo-bull-spermatozoa-during-mating-and-non-mating-periods
#17
G Accogli, G M Lacalandra, G Aiudi, S N Cox, S Desantis
The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment. Semen quality is poorer during non-mating periods, so we aimed to evaluate if there were also seasonal differences in the surface glycosylation pattern of mating period spermatozoa (MPS) compared with non-mating period spermatozoa (NMPS)...
March 7, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28258601/incidence-and-outcome-of-bk-polyomavirus-infection-in-a-multicenter-randomized-controlled-trial-with-renal-transplant-patients-receiving-cyclosporine-mycophenolate-sodium-or-everolimus-based-low-dose-immunosuppressive-therapy
#18
Willem B van Doesum, Lilli Gard, Frederike J Bemelman, Johan W de Fijter, Jaap J Homan van der Heide, Hubert G M Niesters, Willem J van Son, Coen A Stegeman, Henk Groen, Annelies Riezebos-Brilman, Jan Stephan F Sanders
INTRODUCTION: It remains unclear whether overall degree of immunosuppression or specific effects of individual immunosuppressive agents are causal for increased occurrence of BK polyomavirus (BKPyV) infection in renal transplant recipients (RTR). METHODS: A prospective, multicenter, open-label randomized controlled trial in 361 de novo RTR was performed. A total of 224 RTR were randomized at 6 months into three treatment groups with dual therapy consisting of prednisolone (Pred) plus either cyclosporine (CsA), mycophenolate sodium (MPS), or everolimus (EVL)...
March 4, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28257311/prevalence-of-ecg-changes-during-adenosine-stress-and-its-association-with-perfusion-defect-on-myocardial-perfusion-scintigraphy
#19
Sameer K Taywade, Vijayaraghavan L Ramaiah, Harish Basavaraja, Parameswaran R Venkatasubramaniam, Job Selvakumar
OBJECTIVE: Myocardial perfusion scintigraphy (MPS) is a valuable, noninvasive imaging modality in the evaluation of patients with coronary artery disease. Adenosine stress may occasionally be associated with ECG changes. This study evaluated the strength of association between adenosine stress-related ECG changes and perfusion defects on Tc-MPS. PATIENTS AND METHODS: 117 (mean age: 61.25±9.27 years; sex: men 87, women 30) patients with known/suspected coronary artery disease underwent adenosine stress MPS...
April 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#20
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
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