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https://www.readbyqxmd.com/read/29757183/porous-pvdf-pani-ion-exchange-membrane-iem-modified-by-polyvinylpyrrolidone-pvp-and-lithium-chloride-in-the-application-of-membrane-capacitive-deionisation-mcdi
#1
Yiming Zhang, Wei Zhang, Luis F Cházaro-Ruiz
In this work, polyvinylidene fluoride (PVDF)/polyaniline (PANI) heterogeneous anion-exchange membranes filled with pore-forming agents polyvinylpyrrolidone (PVP) and lithium chloride were prepared by the solution-casting technique using the solvent 1-methyl-2-pyrrolidone (NMP) and a two-step phase inversion procedure. Key properties of the as-prepared membranes, such as hydrophilicity, water content, ion exchange capacity, fixed ion concentration, conductivity and transport number were examined and compared between membranes in different conditions...
May 2018: Water Science and Technology: a Journal of the International Association on Water Pollution Research
https://www.readbyqxmd.com/read/29743968/altered-redox-homeostasis-in-branched-chain-amino-acid-disorders-organic-acidurias-and-homocystinuria
#2
REVIEW
Eva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, Alfonso Oyarzábal, Belén Pérez, Pilar Rodríguez-Pombo, Lourdes R Desviat
Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis. Emerging evidence points to oxidative stress and mitochondrial dysfunction as major contributors to the multiorgan alterations observed in several IEMs. The accumulation of toxic metabolites in organic acidurias, respiratory chain, and fatty acid oxidation disorders inhibits mitochondrial enzymes and processes resulting in elevated levels of reactive oxygen species (ROS)...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#3
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29736696/status-of-newborn-screening-and-inborn-errors-of-metabolism-in-india
#4
Seema Kapoor, B K Thelma
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM...
May 7, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#5
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#6
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29721916/integration-of-genomics-and-metabolomics-for-prioritization-of-rare-disease-variants-a-2018-literature-review
#7
Emma Graham, Jessica Lee, Magda Price, Maja Tarailo-Graovac, Allison Matthews, Udo Engelke, Jeffrey Tang, Leo A J Kluijtmans, Ron A Wevers, Wyeth W Wasserman, Clara D M van Karnebeek, Sara Mostafavi
Many inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early diagnosis and treatment is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown. For discovery purposes, whole exome sequencing (WES) variant prioritization coupled with clinical and bioinformatics expertise is the primary method used to identify novel disease-causing variants; however, causation is often difficult to establish due to the number of plausible variants. Integrated analysis of untargeted metabolomics (UM) and WES or whole genome sequencing (WGS) data is a promising systematic approach for identifying disease-causing variants...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29720407/diagnostic-potential-of-stored-dried-blood-spots-for-inborn-errors-of-metabolism-a-metabolic-autopsy-of-medium-chain-acyl-coa-dehydrogenase-deficiency
#8
Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
AIM: It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy to determine the causes of death in infants and children who died suddenly and unexpectedly. METHODS: Infants or toddlers who had suddenly died without a definite diagnosis between July 2008 and December 2012 at Kyushu University Hospital in Japan were enrolled in this study...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29688748/high-resolution-3t-magnetic-resonance-findings-in-cochlear-hypoplasias-and-incomplete-partition-anomalies-a-pictorial-review
#9
Giacomo Talenti, Renzo Manara, Davide Brotto, Felice D'Arco
Inner ear malformations (IEMs), recognized by imaging in 20% of children with congenital sensorineural hearing loss (SNHL), can be caused by both genetic anomalies and environmental causes. Recent histopathologic studies have provided new insights on the anatomy and pathogenesis of incomplete partitions and cochlear hypoplasia, for which different subtypes have been identified. Current IEM's classification systems are radiologically based, and modern advances in MR imaging now allow distinction of such different subtypes in most of the cases...
April 24, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29663269/the-role-of-the-human-metabolome-database-in-inborn-errors-of-metabolism
#10
REVIEW
Rupasri Mandal, Danuta Chamot, David S Wishart
Metabolomics holds considerable promise to advance our understanding of human disease, including our understanding of inborn errors of metabolism (IEM). The application of metabolomics in IEM research has already led to the discovery of several novel IEMs and the identification of novel IEM biomarkers. However, with hundreds of known IEMs and more than 700 associated IEM metabolites, it is becoming increasingly challenging for clinical researchers to keep track of IEMs, their associated metabolites, and their corresponding metabolic mechanisms...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29660838/tdp-43-pathology-in-multiple-system-atrophy-colocalization-of-tdp-43-and-%C3%AE-synuclein-in-glial-cytoplasmic-inclusions
#11
Shunsuke Koga, Wen-Lang Lin, Ronald L Walton, Owen A Ross, Dennis W Dickson
AIMS: This study aimed to assess clinicopathologic features of transactive response DNA-binding protein of 43 kDa (TDP-43) pathology and its risk factors in multiple system atrophy (MSA). METHODS: Paraffin-embedded sections of the amygdala and basal forebrain from 186 autopsy-confirmed MSA cases were screened with immunohistochemistry for phospho-TDP-43. In cases having TDP-43 pathology, additional brain regions were assessed. Immunohistochemical and immunofluorescence double-staining and immunogold electron microscopy (IEM) were performed to evaluate colocalization of TDP-43 and α-synuclein...
April 16, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29618920/vitreous-levels-of-apolipoprotein-a1-and-retinol-binding-protein-4-in-human-rhegmatogenous-retinal-detachment-associated-with-choroidal-detachment
#12
Nannan Ding, Shasha Luo, Jinjin Yu, Ying Zhou, Zhifeng Wu
Purpose: This study aims to quantify the concentration of apolipoprotein A1 (APOA1) and retinol binding protein (RBP4) expressed in the vitreous humors of patients with rhegmatogenous retinal detachment associated with choroidal detachment (RRDCD), rhegmatogenous retinal detachment (RRD), and idiopathic epimacular membrane (IEM). This study also aims to investigate the potential role of APOA1 and RBP4 as biomarkers of RRDCD. Methods: Enzyme-linked immunosorbent assay (ELISA) kits were used to obtain levels of APOA1 and RBP4 from the vitreous humor samples of 76 primary patients...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29548095/theory-of-invasion-extinction-dynamics-in-minimal-food-webs
#13
Jan O Haerter, Namiko Mitarai, Kim Sneppen
When food webs are exposed to species invasion, secondary extinction cascades may be set off. Although much work has gone into characterizing the structure of food webs, systematic predictions on their evolutionary dynamics are still scarce. Here we present a theoretical framework that predicts extinctions in terms of an alternating sequence of two basic processes: resource depletion by or competitive exclusion between consumers. We first propose a conceptual invasion extinction model (IEM) involving random fitness coefficients...
February 2018: Physical Review. E
https://www.readbyqxmd.com/read/29542321/junction-potentials-bias-measurements-of-ion-exchange-membrane-permselectivity
#14
Ryan Scott Kingsbury, Sophie Flotron, Shan Zhu, Douglas Call, Orlando Coronell
Ion exchange membranes (IEMs) are versatile materials relevant to a variety of water and waste treatment, energy production, and industrial separation processes. The defining characteristic of IEMs is their ability to selectively allow positive or negative ions to permeate, which is referred to as the permselectivity. Measured values of permselectivity that equal unity (corresponding to a perfectly-selective membrane) or exceed unity (theoretically impossible) have been reported for cation exchange membranes (CEMs)...
March 15, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29542068/high-risk-stratified-neonatal-screening
#15
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29534692/diagnosis-and-therapeutic-monitoring-of-inborn-errors-of-metabolism-in-100-077-newborns-from-jining-city-in-china
#16
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen
BACKGROUND: Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). Methods of screening for IEM by tandem mass spectrometry (MS/MS) have been developed, and their advantages include rapid testing, high sensitivity, high specificity, high throughput, and low sample volume (a single dried blood spot). METHODS: Dried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS...
March 13, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29521095/miniaturized-reverse-electrodialysis-powered-biosensor-using-electrochemiluminescence-on-bipolar-electrode
#17
Seol Baek, Seung-Ryong Kwon, Song Yi Yeon, Sun-Heui Yoon, Chung Mu Kang, Seok Hee Han, Dahye Lee, Taek Dong Chung
We suggest an electrochemiluminescence (ECL)-sensing platform driven by ecofriendly, disposable, and miniaturized reverse electrodialysis (RED) patches as an electric power source. The flexible RED patches composed of ion-exchange membranes (IEMs) can produce voltage required for ECL sensing by simply choosing the appropriate number of IEMs and the ratio of salt concentrations. We integrate the RED patch with a bipolar electrode on the microfluidic chip to demonstrate the proof-of-concept, i.e., glucose detection in the range of 0...
April 3, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29502914/inborn-errors-of-metabolism-with-seizures-defects-of-glycine-and-serine-metabolism-and-cofactor-related-disorders
#18
REVIEW
Mohammed Almannai, Ayman W El-Hattab
Inborn errors of metabolism (IEM) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEM are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEM can present with seizures, either as the main presenting finding or as a part of a more complex phenotype...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29500085/current-strategies-for-the-treatment-of-inborn-errors-of-metabolism
#19
REVIEW
Michael J Gambello, Hong Li
Inborn errors of metabolism (IEMs) are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understanding of the molecular pathophysiology of many IEMs, have led to significant progress in the development of many new treatments. The institution and continued expansion of newborn screening provide the opportunity for early treatment, leading to reduced morbidity and mortality. This review provides an overview of the diverse therapeutic approaches and recent advances in the treatment of IEMs that focus on the basic principles of reducing substrate accumulation, replacing or enhancing absent or reduced enzyme or cofactor, and supplementing product deficiency...
February 20, 2018: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29476731/metabolic-causes-of-nonimmune-hydrops-fetalis-a-next-generation-sequencing-panel-as-a-first-line-investigation
#20
Bénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, Jelena Martinovic, Ferielle Louillet, Françoise Broux, Françoise Charbonnier, Hélène Dranguet, Sophie Coutant, Myriam Vezain, Raphaël Lanos, Abdellah Tebani, Maria Fuller, Foudil Lamari, Pascal Chambon, Anne-Claire Brehin, Laetitia Trestard, Isabelle Tournier, Stéphane Marret, Eric Verspyck, Annie Laquerrière, Soumeya Bekri
PURPOSES: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
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