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https://www.readbyqxmd.com/read/29330326/loss-of-balance-between-striatal-feedforward-inhibition-and-corticostriatal-excitation-leads-to-tremor
#1
Yael Oran, Izhar Bar-Gad
Fast spiking interneurons (FSIs) exert powerful inhibitory control over the striatum and are hypothesized to balance the massive excitatory cortical and thalamic input to this structure. We recorded neuronal activity in the dorsolateral striatum and globus pallidus (GP) concurrently with the detailed movement kinematics of freely behaving female rats prior to and following selective inhibition of FSI activity using IEM-1460 microinjections. The inhibition led to the appearance of episodic rest tremor in the body part that depended on the somatotopic location of the injection within the striatum...
January 12, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29318410/flux-analysis-of-inborn-errors-of-metabolism
#2
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29315318/correlative-light-and-immuno-electron-microscopy-of-retinal-tissue-cryostat-sections
#3
Thomas Burgoyne, Amelia Lane, William E Laughlin, Michael E Cheetham, Clare E Futter
Correlative light-electron microscopy (CLEM) is a powerful technique allowing localisation of specific macromolecules within fluorescence microscopy (FM) images to be mapped onto corresponding high-resolution electron microscopy (EM) images. Existing methods are applicable to limited sample types and are technically challenging. Here we describe novel methods to perform CLEM and immuno-electron microscopy (iEM) on cryostat sections utilising the popular FM embedding solution, optimal cutting temperature (OCT) compound...
2018: PloS One
https://www.readbyqxmd.com/read/29277078/a-comparison-of-multicomponent-electrosorption-in-capacitive-deionization-and-membrane-capacitive-deionization
#4
Armineh Hassanvand, George Q Chen, Paul A Webley, Sandra E Kentish
In this study, the desalination performance of Capacitive Deionization (CDI) and Membrane Capacitive Deionization (MCDI) was studied for a wide range of salt compositions. The comprehensive data collection for monovalent and divalent ions used in this work enabled us to understand better the competitive electrosorption of these ions both with and without ion-exchange membranes (IEMs). As expected, MCDI showed an enhanced salt adsorption and charge efficiency in comparison with CDI. However, the different electrosorption behavior of the former reveals that ion transport through the IEMs is a significant rate-controlling step in the desalination process...
December 22, 2017: Water Research
https://www.readbyqxmd.com/read/29213153/reference-values-of-amino-acids-acylcarnitines-and-succinylacetone-by-tandem-mass-spectrometry-for-use-in-newborn-screening-in-southwest-colombia
#5
Nora Céspedes, Angela Valencia, Carlos Alberto Echeverry, Maria Isabel Arce-Plata, Cristóbal Colón, Daisy E Castiñeiras, Paula Margarita Hurtado, Jose Angel Cocho, Sócrates Herrera, Myriam Arévalo-Herrera
Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation of multiple metabolites associated with IEM offering higher sensitivity, low false positive rates and high throughput. Aims: Determine concentration levels for amino acids and acylcarnitines in blood of newborns from Colombia, to establish reference values for further use in diagnosis of IEM...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29211263/metabolic-screening-and-metabolomics-analysis-in-the-intellectual-developmental-disorders-mexico-study
#6
Isabel Ibarra-González, Rocío Rodríguez-Valentín, Eduardo Lazcano-Ponce, Marcela Vela-Amieva
OBJECTIVE: Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. MATERIALS AND METHODS: Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD...
July 2017: Salud Pública de México
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#7
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203429/oxidative-stress-in-urea-cycle-disorders-findings-from-clinical-and-basic-research
#8
REVIEW
Belisa Parmeggiani, Carmen Regla Vargas
Inborn errors of metabolism (IEM) comprise a group of over 600 disorders, each with a specific metabolic impairment due to a genetic defect. Urea cycle disorders (UCD) are IEM that affect the nitrogen disposal system, leading to hyperammonemia and the accumulation of other toxic metabolites in tissues of affected patients. UCD arise from mutations in the genes coding any of the enzymes participating in the urea cycle, either directly or as regulators of this pathway, causing severe respiratory alkalosis. Considering that the exact mechanisms underlying the damage found in UCD, the purpose of this minireview is to obtain data and search for links between UCD and oxidative stress, a phenomenon common to several IEM...
December 1, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29201792/does-chicago-classification-address-symptom-correlation-with-high-resolution-esophageal-manometry
#9
Mayank Jain, Melpakkam Srinivas, Piyush Bawane, Jayanthi Venkataraman
Aim: To assess the correlation of symptoms with findings on esophageal high-resolution manometry (HRM) in Indian patients. Materials and methods: Prospective data collection of all patients undergoing esophageal manometry was done at two centers in India-Indore and Chennai-over a period of 18 months. Symptom profile of the study group was divided into four: Motor dysphagia, noncardiac chest pain (NCCP), gastroesophageal reflux (GER), and esophageal belchers. The symptoms were correlated with manometric findings...
July 2017: Euroasian Journal of Hepato-Gastroenterology
https://www.readbyqxmd.com/read/29159898/optimal-number-of-multiple-rapid-swallows-needed-during-high-resolution-esophageal-manometry-for-accurate-prediction-of-contraction-reserve
#10
A Mauro, E Savarino, N De Bortoli, S Tolone, D Pugliese, M Franchina, C P Gyawali, R Penagini
BACKGROUND: Multiple rapid swallows (MRS) is a provocative test for assessment of contraction reserve, however reproducibility on repetitive MRS is incompletely understood. Our aim was to determine the optimal number of MRS sequences for consistent assessment of contraction reserve. METHODS: One hundred and fifty-nine consecutive patients (79 IEM and 80 normal motility) who underwent high-resolution manometers were enrolled. Ten single swallows (SS) and 10 MRS were performed...
November 21, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#11
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
#12
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
#13
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
#14
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
#15
Andraz Smon, Barbka Repic Lampret, Urh Groselj, Mojca Zerjav Tansek, Jernej Kovac, Dasa Perko, Sara Bertok, Tadej Battelino, Katarina Trebusak Podkrajsek
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
#16
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
#17
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...
January 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#18
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
#19
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
#20
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
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