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https://www.readbyqxmd.com/read/28820756/telmesani-radiological-classification-of-the-location-of-the-vertical-segment-of-the-facial-nerve-impact-on-surgical-approach-in-cochlear-implant-surgery
#1
Laila Mohammed Telmesani, Mona Khalid Alrammah
OBJECTIVE: This study was conducted to establish a radiological classification of the location of the vertical segment of the facial nerve (VSFN) and to see if this has implications on the surgical technique needed to access the round window niche (RWN) in cochlear implant (CI) surgery. STUDY DESIGN: Observational case series study. SETTING: Tertiary referral center. PATIENTS: One hundred twenty seven patients underwent CI surgery, and high resolution computed tomography (HRCT) of 140 temporal bones was studied...
August 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28811860/the-apelin-receptor-apj-in-hematopoietic-stem-cells-progenitor-cells-in-the-early-stage-of-non-alcoholic-steatohepatitis
#2
Wataru Ando, Hiroaki Yokomori, Katsuya Otori, Masaya Oda
BACKGROUND: Non-alcoholic steatohepatitis (NASH) is characterized by hepatic steatosis and inflammation with or without fibrosis. The apelin receptor (APJ) is related to angiotensin-like-receptor 1 (AGTRL1). The present study aimed to evaluate APJ as an indicator of the pathophysiology of early-stage NASH. METHODS: APJ expression was evaluated in six tissue samples with histologically proven early-stage NASH using immunohistochemistry (IHC) and immunoelectron microscopy (IEM)...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28771436/applying-targeted-next-generation-sequencing-to-dried-blood-spot-specimens-from-suspicious-cases-identified-by-tandem-mass-spectrometry-based-newborn-screening
#3
Jicheng Qian, Xiaonan Wang, Jia Liu, Junyuan Zhong, Yanqun Le, Laurent C A Melchior Tellier, Chao Liu, Pingping Jiang, Rui Gao, Yuan Wang
BACKGROUND: Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed. METHODS: Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay. RESULTS: In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively...
August 3, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28762946/plasticity-of-calcium-permeable-ampa-glutamate-receptors-in-pro-opiomelanocortin-neurons
#4
Shigetomo Suyama, Alexandra Ralevski, Zhong-Wu Liu, Marcelo O Dietrich, Toshihiko Yada, Stephanie E Simonds, Michael A Cowley, Xiao-Bing Gao, Sabrina Diano, Tamas L Horvath
POMC neurons integrate metabolic signals from the periphery. Here, we show in mice that food deprivation induces a linear current-voltage relationship of AMPAR-mediated excitatory postsynaptic currents (EPSCs) in POMC neurons. Inhibition of EPSCs by IEM-1460, an antagonist of calcium-permeable (Cp) AMPARs, diminished EPSC amplitude in the fed but not in the fasted state, suggesting entry of GluR2 subunits into the AMPA receptor complex during food deprivation. Accordingly, removal of extracellular calcium from ACSF decreased the amplitude of mEPSCs in the fed but not the fasted state...
August 1, 2017: ELife
https://www.readbyqxmd.com/read/28755181/biochemical-and-clinical-aspects-of-hereditary-tyrosinemia-type-1
#5
Geneviève Morrow, Robert M Tanguay
Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs. The most severe metabolic disorder associated with this catabolic pathway is hereditary tyrosinemia type 1 (HT1; OMIM 276700). HT1 is an autosomal recessive disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28751508/between-fire-and-ice-refractory-hypothermia-and-warmth-induced-pain-in-inherited-erythromelalgia
#6
See Wan Tham, Li Li, Philip Effraim, Stephen Waxman
Inherited erythromelalgia (IEM) is a well-described pain disorder caused by mutations of sodium channel Nav1.7, a peripheral channel expressed within dorsal root ganglion and the sympathetic ganglion neurons. Clinically, IEM is characterised by paroxysmal attacks of severe pain, usually in the distal extremities, triggered by warmth or exercise. Pain is not adequately treated by existing pharmacological agents. Individuals with IEM classically cool their limbs for relief, in some cases resulting in tissue injury...
July 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28726811/knowledge-base-and-mini-expert-platform-for-the-diagnosis-of-inborn-errors-of-metabolism
#7
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, Clara D M van Karnebeek, Nenad Blau
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype diagnosis support (mini-expert) system.MethodsDisease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28709670/arterial-stiffness-in-normotensive-and-hypertensive-subjects-frequency-in-community-pharmacies
#8
Enrique Rodilla Sala, Manuel Adell Alegre, Vicente Giner Galvañ, Zeneida Perseguer Torregrosa, Jose Maria Pascual Izuel, María Teresa Climent Catalá
BACKGROUND AND OBJECTIVE: Arterial stiffness (AS) is a well-recognized target organ lesion. This study aims to determine: 1) the frequency of AS in community pharmacies; 2) if stiffened subjects identified by brachial oscillometry have more CV risk factors than normal subjects, and 3) the dependence of stiffness on using either age-adjusted values or a fixed threshold. PATIENTS AND METHOD: Observational, cross-sectional study in 32 community pharmacies of the Valencia Community, between November/2015 and April/2016...
July 11, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28675886/international-society-for-the-study-of-fatty-acids-and-lipids-2016-debate-for-science-based-dietary-guidelines-on-fats-meta-analysis-and-systematic-reviews-are-decisive
#9
Joyce A Nettleton, Clemens von Schacky, Ingeborg A Brouwer, Berthold Koletzko
This paper summarizes a debate on whether meta-analyses and systematic reviews are decisive in formulating guidelines for dietary fat. Held during the 12th congress of the International Society for the Study of Fatty Acids and Lipids in Stellenbosch, South Africa, September 7, 2016, the debate was hosted by the International Union of Nutritional Sciences and the International Expert Movement to Improve Dietary Fat Quality (IEM, www.theiem.org). Clemens von Schacky, Ludwig Maximilians-University, Munich, Germany, supported the statement, describing the types of weaknesses in individual studies and clinical trials...
July 4, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28675843/evaluation-of-key-parameters-on-simultaneous-sulfate-reduction-and-sulfide-oxidation-in-an-autotrophic-biocathode
#10
Enric Blázquez, David Gabriel, Juan Antonio Baeza, Albert Guisasola
Bioelectrochemical systems (BESs) are being studied as an alternative technology for the treatment of several kinds of wastewaters with a lack of electron donor such as high-strength sulfate wastewaters. This study evaluates different parameters that influence the simultaneous sulfate reduction and sulfide oxidation in an autotrophic biocathode: ion-exchange membrane (IEM), cathodic pH and cathode potential. Two different membranes were studied to evaluate sulfate and sulfide adsorption and diffusion from the cathode to the anode, observing that a cation-exchange membrane (CEM) widely decreased these effects...
June 20, 2017: Water Research
https://www.readbyqxmd.com/read/28675806/the-future-perspective-metabolomics-in-laboratory-medicine-for-inborn-errors-of-metabolism
#11
REVIEW
Yana Sandlers
Metabolomics can be described as a simultaneous and comprehensive analysis of small molecules in a biological sample. Recent technological and bioinformatics advances have facilitated large-scale metabolomic studies in many areas, including inborn errors of metabolism (IEMs). Despite significant improvements in the diagnosis and treatment of some IEMs, it is still challenging to understand how genetic variation affects disease progression and susceptibility. In addition, a search for new more personalized therapies and a growing demand for tools to monitor the long-term metabolic effects of existing therapies set the stage for metabolomics integration in preclinical and clinical studies...
June 15, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28671587/inborn-errors-of-metabolism-and-epilepsy-current-understanding-diagnosis-and-treatment-approaches
#12
REVIEW
Suvasini Sharma, Asuri N Prasad
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term "metabolic epilepsy" can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments...
July 2, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28666653/the-liver-is-a-metabolic-and-immunologic-organ-a-reconsideration-of-metabolic-decompensation-due-to-infection-in-inborn-errors-of-metabolism-iem
#13
REVIEW
Tatyana N Tarasenko, Peter J McGuire
Metabolic decompensation in inborn errors of metabolism (IEM) is characterized by a rapid deterioration in metabolic status leading to life-threatening biochemical perturbations (e.g. hypoglycemia, hyperammonemia, acidosis, organ failure). Infection is the major cause of metabolic decompensation in patients with IEM. We hypothesized that activation of the immune system during infection leads to further perturbations in end-organ metabolism resulting in increased morbidity. To address this, we established model systems of metabolic decompensation due to infection...
August 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28648083/temporal-signal-pattern-recognition-in-mass-spectrometry-a-method-for-rapid-identification-and-accurate-quantification-of-biomarkers-for-inborn-errors-of-metabolism-with-quality-assurance
#14
Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y Al-Dirbashi, Pranesh Chakraborty, Philip Britz-McKibbin
Mass spectrometry (MS)-based metabolomic initiatives that use conventional separation techniques are limited by low sample throughput and complicated data processing that contribute to false discoveries. Herein, we introduce a new strategy for unambiguous identification and accurate quantification of biomarkers for inborn errors of metabolism (IEM) from dried blood spots (DBS) with quality assurance. A multiplexed separation platform based on multisegment injection-capillary electrophoresis-mass spectrometry (MSI-CE-MS) was developed to provide comparable sample throughput to flow injection analysis-tandem MS (FIA-MS/MS) but with greater selectivity as required for confirmatory testing and discovery-based metabolite profiling of volume-restricted biospecimens...
July 11, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28631161/the-role-of-eabr-with-intracochlear-test-electrode-in-decision-making-between-cochlear-and-brainstem-implants-preliminary-results
#15
Betul Cicek Cinar, Mehmet Yarali, Gamze Atay, Munir Demir Bajin, Gonca Sennaroglu, Levent Sennaroglu
The objective of the study was to discuss the findings of intraoperative electrically evoked auditory brainstem response (eABR) test results with a recently designed intracochlear test electrode (ITE) in terms of their relation to decisions of cochlear or auditory brainstem implantation. This clinical study was conducted in Hacettepe University, Department of Otolaryngology, Head and Neck Surgery and Department of Audiology. Subjects were selected from inner ear malformation (IEM) database. Eleven subjects with profound sensorineural hearing loss were included in the current study with age range from 1 year 3 months to 4 years 3 months for children with prelingual hearing loss...
June 19, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28599708/quantification-of-metabolites-in-dried-blood-spots-by-direct-infusion-high-resolution-mass-spectrometry
#16
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, Hubertus C M T Prinsen, Marcel Willemsen, Mia L Pras-Raves, Judith J Jans, Nanda M Verhoeven-Duif
Diagnosis and treatment of inborn errors of metabolism (IEM) require the analysis of a variety of metabolites. These compounds are usually quantified by targeted platforms. High resolution mass spectrometry (HRMS) has the potential to detect hundreds to thousands of metabolites simultaneously. A chip-based nanoelectrospray source (chip-based nanoESI) enables the direct infusion of biological samples. Major advantages of this system include high sample throughput, no sample carryover, and low sample consumption...
August 1, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28593551/esophageal-motility-disorders-symptomatic-and-manometric-spectrum-in-punjab-northern-india
#17
Omesh Goyal, Monika Bansal, Ajit Sood
BACKGROUND: Data on the spectrum of esophageal motility disorders in Indian population are scarce. We aimed to study the symptomatic and manometric profile of patients with suspected esophageal motility disorders. METHODS: Consecutive patients with esophageal symptoms who underwent esophageal high-resolution manometry (HRM) from January 2010 to December 2014 were included in this retrospective analysis of prospectively acquired data. HRM was performed with 22-channel water-perfusion system and patients classified using Chicago classification v3...
May 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28584877/neocortical-chandelier-cells-developmentally-shape-axonal-arbors-through-reorganization-but-establish-subcellular-synapse-specificity-without-refinement
#18
André Steinecke, Ellie Hozhabri, Stephen Tapanes, Yugo Ishino, Hongkui Zeng, Naomi Kamasawa, Hiroki Taniguchi
Diverse types of cortical interneurons (INs) mediate various kinds of inhibitory control mechanisms to balance and shape network activity. Distinct IN subtypes develop uniquely organized axonal arbors that innervate different subcellular compartments of excitatory principal neurons (PNs), which critically contribute to determining their output properties. However, it remains poorly understood how they establish this peculiar axonal organization and synaptic connectivity during development. Here, taking advantage of genetic labeling of IN progenitors, we examined developmental processes of axonal arbors and synaptic connections formed by murine chandelier cells (ChCs), which innervate axon initial segments (AISs) of PNs and thus powerfully regulate their spike generation...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28540711/pcr-in-the-analysis-of-clinical-samples-prenatal-and-postnatal-diagnosis-of-inborn-errors-of-metabolism
#19
Laura Vilarinho, Célia Nogueira
Inborn errors of metabolism (IEMs) are individually rare but collectively common. As more and more genes are cloned and specific disease-causing mutations are identified, the diagnosis of IEMs is becoming increasingly confirmed by mutation analysis. Diagnosis is important not only for treatment and prognosis but also for genetic counselling and prenatal diagnosis in subsequent pregnancies. A wide range of molecular methods is available for the identification of mutations and other DNA variants, most of which are based on the Polymerase Chain Reaction (PCR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28540367/lived-lives-a-pavee-perspective-an-arts-science-community-intervention-around-suicide-in-an-indigenous-ethnic-minority
#20
Kevin M Malone, Seamus G McGuinness, Eimear Cleary, Janis Jefferies, Christabel Owens, Cecily C Kelleher
Background: Suicide is a significant public health concern, which impacts on health outcomes. Few suicide research studies have been interdisciplinary. We combined a psychobiographical autopsy with a visual arts autopsy, in which families donated stories, images and objects associated with the lived life of a loved one lost to suicide. From this interdisciplinary research platform, a mediated exhibition was created (Lived Lives) with artist, scientist and families, co-curated by communities, facilitating dialogue, response and public action around suicide prevention...
April 13, 2017: Wellcome Open Research
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