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https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#1
Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29135898/acute-illness-protocol-for-urea-cycle-disorders
#2
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare but collectively have an incidence of 1:1000. Most patients with IEMs are followed up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency physician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders...
November 14, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29130197/detection-of-mrna-and-associated-molecules-by-ish-iem-on-frozen-sections
#3
Catherine Rabouille
The use of tagged RNA probes to directly hybridize frozen sections of chemically fixed tissues, followed by the tag detection with specific antibodies and gold conjugates form the core of the in situ hybridization (ISH)-immunoelectron microscopy (IEM) method that we have developed and successfully used to detect endogenous gurken and bicoid mRNAs in Drosophila oocytes.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29126128/identification-of-the-optimal-protocol-for-automated-office-blood-pressure-measurement-among-patients-with-treated-hypertension
#4
Myles N Moore, Martin G Schultz, Mark R Nelson, J Andrew Black, Nathan B Dwyer, Ella Hoban, Matthew D Jose, Wojciech Kosmala, Monika Przewlocka-Kosmala, Jowita Zachwyc, Petr Otahal, Dean S Picone, Philip Roberts-Thomson, Panagiota Veloudi, James E Sharman
BACKGROUND: Automated office blood pressure (AOBP) involving repeated, unobserved blood pressure (BP) readings during one clinic visit is recommended for in-office diagnosis and assessment of hypertension. However, the optimal AOBP protocol to determine BP control in the least amount of time with the fewest BP readings is yet to be determined and was the aim of this study. METHODS: One hundred and eighty-nine patients (mean age 62.8 ± 12.1 years; 50.3% female) with treated hypertension referred to specialist clinics at 2 sites underwent AOBP in a quiet room alone...
November 6, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29111448/next-generation-sequencing-as-a-follow-up-test-in-an-expanded-newborn-screening-programme
#5
Smon Andraz, Repic Lampret Barbka, Groselj Urh, Zerjav Tansek Mojca, Kovac Jernej, Perko Dasa, Bertok Sara, Battelino Tadej, Trebusak Podkrajsek Katarina
OBJECTIVES: Contrary to many western European countries, most south-eastern European countries do not have an expanded newborn screening (NBS) program using tandem mass spectrometry. This study would represent one of the first expanded NBS studies in south-eastern Europe and will enable the estimation of the incidences of IEM in Slovenia. We proposed an expanded NBS approach including next-generation sequencing (NGS) as a confirmational analysis. DESIGN & METHODS: We conducted a pilot study of expanded NBS for selected inborn errors of metabolism (IEM) in Slovenia including 10,048 NBS cards...
October 27, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/29110168/caregiver-quality-of-life-with-tyrosinemia-type-1
#6
Hailey Campbell, Rani H Singh, Eric Hall, Nadia Ali
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact...
November 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29095391/acute-illness-protocol-for-maple-syrup-urine-disease
#7
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare but collectively have an incidence of 1:1000. Most patients with IEMs are followed up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physician, pediatrician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#8
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29090077/distant-supervision-with-transductive-learning-for-adverse-drug-reaction-identification-from-electronic-medical-records
#9
Siriwon Taewijit, Thanaruk Theeramunkong, Mitsuru Ikeda
Information extraction and knowledge discovery regarding adverse drug reaction (ADR) from large-scale clinical texts are very useful and needy processes. Two major difficulties of this task are the lack of domain experts for labeling examples and intractable processing of unstructured clinical texts. Even though most previous works have been conducted on these issues by applying semisupervised learning for the former and a word-based approach for the latter, they face with complexity in an acquisition of initial labeled data and ignorance of structured sequence of natural language...
2017: Journal of Healthcare Engineering
https://www.readbyqxmd.com/read/29089771/a-multicenter-open-label-pilot-study-evaluating-the-functionality-of-an-integrated-call-center-for-a-digital-medicine-system-to-optimize-monitoring-of-adherence-to-oral-aripiprazole-in-adult-patients-with-serious-mental-illness
#10
Alex Kopelowicz, Ross A Baker, Cathy Zhao, Claudette Brewer, Erica Lawson, Timothy Peters-Strickland
BACKGROUND: Medication nonadherence is common in the treatment of serious mental illness (SMI) and leads to poor outcomes. The digital medicine system (DMS) objectively measures adherence with oral aripiprazole in near-real time, allowing recognition of adherence issues. This pilot study evaluated the functionality of an integrated call center in optimizing the use of the DMS. MATERIALS AND METHODS: An 8-week, open-label, single-arm trial at four US sites enrolled adults with bipolar I disorder, major depressive disorder, and schizophrenia on stable oral aripiprazole doses and willing to use the DMS (oral aripiprazole + ingestible event marker [IEM], IEM-detecting skin patch, and software application)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29039094/immunoelectron-microscopy-for-visualization-of-nanoparticles
#11
Sarah R Anderson, David Parmiter, Ulrich Baxa, Kunio Nagashima
Immunoelectron microscopy (IEM) on a solid phase such as a carbon film is a fast and powerful way to detect and visualize surface antigens on nanoparticles by using a transmission electron microscope (TEM). Nanoparticles, in particular ones for medical applications, are often modified on the surface with soft materials to make them more soluble, less toxic, or targetable to cancerous tumors. Imaging the soft material on the surface of solid nanoparticles by electron microscopy is often a challenge. IEM can overcome this issue in cases where antibodies to any of the surface material are available, which is often the case for proteins, but also for commonly used materials such as polyethylene glycol (PEG)...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29027725/severity-of-ineffective-esophageal-motility-is-associated-with-utilization-of-skeletal-muscle-relaxant-medications
#12
V Rangan, N S George, F Khan, Z Geng, S Gabbard, A Kichler, H Gittleman, R Fass
BACKGROUND: Ineffective esophageal motility (IEM) is the most common finding on high-resolution esophageal manometry (HREM). The underlying mechanisms for IEM remain to be fully elucidated. The aim of this study was to determine if utilization of skeletal muscle relaxants is associated with IEM, and with more severe subtypes of the disorder. METHODS: Patients with diagnosis of IEM were gender and age matched to patients with normal HREM. Demographic information, symptoms, endoscopic findings, medication usage and medical comorbidities were recorded...
October 13, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29018480/comparison-of-esophageal-function-tests-in-chinese-patients-with-functional-heartburn-and-reflux-hypersensitivity
#13
Feng Gao, Yan Gao, Xue Chen, Jie Qian, Jie Zhang
OBJECTIVE: To investigate the differences in the results of esophageal function tests for functional heartburn (FH) and reflux hypersensitivity (RH). METHODS: Patients with FH and RH and healthy volunteers (HVs) from the Department of Gastroenterology, Beijing Anzhen Hospital and Beijing Chao-Yang hospital, who underwent high-resolution manometry and impedance (HRIM), and 24-hour multichannel intraluminal impedance and pH recording (MII/pH) between 2014 and 2016, were enrolled in this study...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28977297/initial-clinical-presentation-in-cases-of-inborn-errors-of-metabolism-in-a-reference-children-s-hospital-still-a-diagnostic-challenge
#14
Andressa Romão, Priscila Endlich Alves Simon, José Eduardo Coutinho Góes, Louise Lapagessede Camargo Pinto, Roberto Giugliani, Gisele Rozone de Luca, Francisca Ligia Cirilo Carvalho
OBJECTIVE: To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care. METHODS: Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion criterion: referral to IEM investigation. Exclusion criterion: prior diagnosis of IEM. Analyzed variables: identification data; status of diagnostic investigation; family history of IEM; initial clinical presentation, laboratory abnormalities related to the hypothesis of IEM...
July 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28966433/an-integrated-ecological-modeling-system-for-assessing-impacts-of-multiple-stressors-on-stream-and-riverine-ecosystem-services-within-river-basins
#15
John M Johnston, M Craig Barber, Kurt Wolfe, Mike Galvin, Mike Cyterski, Rajbir Parmar
We demonstrate a novel, spatially explicit assessment of the current condition of aquatic ecosystem services, with limited sensitivity analysis for the atmospheric contaminant mercury. The Integrated Ecological Modeling System (IEMS) forecasts water quality and quantity, habitat suitability for aquatic biota, fish biomasses, population densities, productivities, and contamination by methylmercury across headwater watersheds. We applied this IEMS to the Coal River Basin (CRB), West Virginia (USA), an 8-digit hydrologic unit watershed, by simulating a network of 97 stream segments using the SWAT watershed model, a watershed mercury loading model, the WASP water quality model, the PiSCES fish community estimation model, a fish habitat suitability model, the BASS fish community and bioaccumulation model, and an ecoservices post-processer...
June 24, 2017: Ecological Modelling
https://www.readbyqxmd.com/read/28920014/plasma-fibroblast-growth-factor-21-levels-in-patients-with-inborn-errors-of-metabolism
#16
Brian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, Kristina Cusmano, Kimberly Chapman, Marshall Summar
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0-65 pg/dL). Further study of FGF21 as a biomarker in IEM is warranted.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28910860/isolation-of-probiotic-piliated-lactobacillus-rhamnosus-strains-from-human-faecal-microbiota-using-spaaantiserum-based-colony-immunoblotting
#17
Zhen-Quan Yang, Yu Xue, Mi Zhang, Sheng-Qi Rao, Lu Gao, Yong-Qi Yin, Da-Wei Chen, Xiao-Hui Zhou, Xin-An Jiao
Piliated Lactobacillus rhamnosus (pLR) strains possess higher adherent capacity than non-piliated strains. The objective of this study was to isolate and characterise probiotic pLR strains in human faecal samples. To this end, mouse polyclonal antiserum (anti-SpaA) against the recombinant pilus protein (SpaA) of L. rhamnosus strain GG (LGG) was prepared and tested for its reactivity and specificity. With the anti-SpaA, a method combining the de Man Rogosa and Sharpe (MRS) agar plating separation and colony immunoblotting (CIB) was developed to isolate pLR from 124 human faecal samples...
September 15, 2017: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28906442/the-role-of-ion-exchange-membranes-in-membrane-capacitive-deionisation
#18
REVIEW
Armineh Hassanvand, Kajia Wei, Sahar Talebi, George Q Chen, Sandra E Kentish
Ion-exchange membranes (IEMs) are unique in combining the electrochemical properties of ion exchange resins and the permeability of a membrane. They are being used widely to treat industrial effluents, and in seawater and brackish water desalination. Membrane Capacitive Deionisation (MCDI) is an emerging, energy efficient technology for brackish water desalination in which these ion-exchange membranes act as selective gates allowing the transport of counter-ions toward carbon electrodes. This article provides a summary of recent developments in the preparation, characterization, and performance of ion exchange membranes in the MCDI field...
September 14, 2017: Membranes
https://www.readbyqxmd.com/read/28905239/expression-and-distribution-of-three-transient-receptor-potential-vanilloid-trpv-channel-proteins-in-human-odontoblast-like-cells
#19
Wen Wen, Kehua Que, Chengcheng Zang, Jing Wen, Guangxu Sun, Zhiying Zhao, Yanzhong Li
Odontoblasts have been suggested to contribute to nociceptive sensation in the tooth via expression of the transient receptor potential (TRP) channels. The TRP channels as a family of nonselective cation permeable channels play an important role in sensory transduction of human. In this study, we examined the expression of transient receptor potential vanilloid-1 (TRPV1), transient receptor potential vanilloid-2 (TRPV2) and transient receptor potential vanilloid-3 (TRPV3) channels in native human odontoblasts (HODs) and long-term cultured human dental pulp cells with odontoblast phenotyoe (LHOPs) obtained from healthy wisdom teeth with the use of immunohistochemistry (IHC), immunofluorescence (IF), quantitative real-time polymerase chain reaction (qRT-PCR),western blotting (WB) and immunoelectron microscopy (IEM) assay...
December 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/28902269/development-of-in-house-serological-methods-for-diagnosis-and-surveillance-of-chikungunya
#20
Saira Saborío Galo, Karla González, Yolanda Téllez, Nadezna García, Leonel Pérez, Lionel Gresh, Eva Harris, Ángel Balmaseda
Objective: To develop and evaluate serological methods for chikungunya diagnosis and research in Nicaragua. Methods: Two IgM ELISA capture systems (MAC-ELISA) for diagnosis of acute chikungunya virus (CHIKV) infections, and two Inhibition ELISA Methods (IEM) to measure total antibodies against CHIKV were developed using monoclonal antibodies (mAbs) and hyperimmune serum at the National Virology Laboratory of Nicaragua in 2014-2015. The sensitivity, specificity, predictive values, and agreement of the MAC-ELISAs were obtained by comparing the results of 198 samples (116 positive; 82 negative) with the Centers for Disease Control and Prevention's IgM ELISA (Atlanta, Georgia, United States; CDC-MAC-ELISA)...
August 21, 2017: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
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