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https://www.readbyqxmd.com/read/28734160/selective-and-accurate-c5-acylcarnitine-quantitation-by-uhplc-ms-ms-distinguishing-true-isovaleric-acidemia-from-pivalate-derived-interference
#1
Paul E Minkler, Maria S K Stoll, Stephen T Ingalls, Charles L Hoppel
Tandem MS acylcarnitine "profiles" are extremely valuable. Although used appropriately in newborn screening programs to identify patients with possible diseases, their inadequate quantitative accuracy and lack of selectivity is problematic for confirmatory testing. In this report, we show the application of our validated, selective, accurate, precise, and robust UHPLC-MS/MS method for quantitation of acylcarnitines, specifically to C5 acylcarnitines: pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine...
July 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28730555/intermittent-versus-continuous-renal-replacement-therapy-in-acute-methanol-poisoning-comparison-of-clinical-effectiveness-in-mass-poisoning-outbreaks
#2
Sergey Zakharov, Jan Rulisek, Olga Nurieva, Katerina Kotikova, Tomas Navratil, Martin Komarc, Daniela Pelclova, Knut Erik Hovda
BACKGROUND: Intermittent hemodialysis (IHD) is the modality of choice in the extracorporeal treatment (ECTR) of acute methanol poisoning. However, the comparative clinical effectiveness of intermittent versus continuous modalities (CRRT) is unknown. During an outbreak of mass methanol poisoning, we therefore studied the effect of IHD versus CRRT on mortality and the prevalence of visual/central nervous system (CNS) sequelae in survivors. METHODS: The study was designed as prospective observational cohort study...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#3
F Han, L S Han, W J Ji, T Chen, F Xu, Y Wang, J Ye, W J Qiu, H W Zhang, Y Z Jiang, C Hou, X F Gu
Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28726122/beta-ketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals
#4
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A Genetti, Meghan C Towne, Roy W A Peake, Philip M James, Alan H Beggs, Catherine A Brownstein, Gerard T Berry, Pankaj B Agrawal
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic variants in the ACAT1 gene, encoding mitochondrial beta-ketothiolase. We report two cases of beta-ketothiolase deficiency presenting with acute ketoacidosis and "metabolic stroke." The first patient presented at 28 months of age with metabolic acidosis and pallidal stroke in the setting of a febrile gastrointestinal illness...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28720782/dysregulated-mirnas-and-their-pathogenic-implications-for-the-neurometabolic-disease-propionic-acidemia
#5
Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat
miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic targets. PA is a potentially lethal neurometabolic disease with patients developing neurological deficits and cardiomyopathy in the long-term, among other complications. In the PA mouse liver we identified 14 significantly dysregulated miRNAs. Three selected miRNAs, miR-34a-5p, miR-338-3p and miR-350, were found upregulated in brain and heart tissues...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28712602/anaplerotic-therapy-in-propionic-acidemia
#6
Nicola Longo, Leisa B Price, Eduard Gappmaier, Nancy L Cantor, Sharon L Ernst, Carrie Bailey, Marzia Pasquali
BACKGROUND: Propionic acidemia is a rare metabolic disorder caused by a deficiency of propionyl- CoA carboxylase, the enzyme converting propionyl-CoA to methylmalonyl-CoA that subsequently enters the citric acid cycle as succinyl-CoA. Patients with propionic acidemia cannot metabolize propionic acid, which combines with oxaloacetate to form methylcitric acid. This, with the defective supply of succinyl-CoA, may lead to a deficiency in citric acid cycle intermediates. PURPOSE: The objective of this study was to determine whether supplements with glutamine (400mg/kg per day), citrate (7...
July 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28698729/neurological-and-vascular-manifestations-of-ethylmalonic-encephalopathy
#7
Ali Reza Tavasoli, Parastoo Rostami, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children's Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28674684/effect-of-fetal-sex-on-maternal-and-obstetric-outcomes
#8
REVIEW
Mohammed Al-Qaraghouli, Yu Ming Victor Fang
Fetal sex plays an important role in modifying the course and complications related to pregnancy and may also have an impact on maternal health and well-being both during and after pregnancy. The goal of this article is to review and summarize the findings from published research on physiologic and pathologic changes that may be affected by fetal sex and the effect of these changes on the maternal and obstetrical outcomes. This will help create awareness that fetal sex is not just a random chance event but an interactive process between the mother, the placenta, and the fetus...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28671175/a-rare-cause-of-ventilatory-failure-in-a-patient-with-post-traumatic-intracranial-hemorrhage
#9
Balamugesh Thangakunam, Shakti Kumar Bal, Ajay V Venkatapathy, Aparna Irodi, Devasahayam Jesudas Christopher
High minute ventilation is required to lower intracranial pressures in patients with intracranial bleed. Respiratory acidemia consequent to ventilatory difficulty is dangerous in such patients as it further raises intracranial tension. We describe such a case. A 24-year-old man had to be intubated and mechanically ventilated after he met with a road traffic accident and sustained extensive maxillofacial injuries and intracranial bleed. A tooth was accidentally aspirated in this injury and progressively resulted in left lower lobe collapse, pneumomediastinum, and consequent difficult ventilation...
July 2017: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/28649556/successful-pregnancy-and-delivery-in-a-woman-with-propionic-acidemia-from-the-amish-community
#10
Jessica Scott Schwoerer, Sandra van Calcar, Gregory M Rice, James Deline
Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28634175/interrelations-between-3-hydroxypropionate-and-propionate-metabolism-in-rat-liver-relevance-to-disorders-of-propionyl-coa-metabolism
#11
Kirkland A Wilson, Yong Han, Miaoqi Zhang, Jeremy Hess, Kimberly A Chapman, Gary W Cline, Gregory P Tochtrop, Henri Brunengraber, Guo-Fang Zhang
Propionate, 3-hydroxypropionate (3HP), methylcitrate, related compounds and ammonium accumulate in body fluids of patients with disorders of propionyl-CoA metabolism, such as propionic acidemia. Although liver transplantation alleviates hyperammonemia, high concentrations of propionate, 3HP and methylcitrate persist in body fluids. We hypothesized that conserved metabolic perturbations occurring in transplanted patients result from the simultaneous presence of propionate and 3HP in body fluids. We investigated the interrelations of propionate and 3HP metabolism in perfused livers from normal rats using metabolomic and stable isotopic technologies...
June 20, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#12
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
June 16, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28629246/clinical-significance-of-primary-symptoms-in-women-with-placental-abruption
#13
Youwen Mei, Yonghong Lina
BACKGROUND: To evaluate the clinical significance of primary symptoms in women with placental abruption. METHODS: A retrospective study of 273 cases of placental abruption was performed. The subjects were classified into 2 groups according to primary symptoms: 210 cases of vaginal bleeding group and 63 cases of abdominal pain group. The clinical features, maternal and neonatal outcomes were compared between two groups. RESULTS: The incidence of preeclampsia and preterm birth in vaginal bleeding group was significantly lower than abdominal pain group, while the incidence of premature rupture of membrane (PROM) in the former group was higher than that in the latter group...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28615935/serum-inflammatory-biomarkers-and-clinical-outcomes-of-copd-exacerbation-caused-by-different-pathogens
#14
Theerasuk Kawamatawong, Apitch Apiwattanaporn, Warisara Siricharoonwong
BACKGROUND AND OBJECTIVE: COPD exacerbation is characterized by worsening of symptoms, warranting change in treatment. Systemic and airway inflammation play roles in the pathogenesis of COPD exacerbation. We hypothesized whether increased serum inflammatory biomarkers are associated with the clinical outcomes of COPD exacerbation caused by different infectious pathogens. METHODS: COPD patients with exacerbation were recruited from a hospital emergency department during 2014-2015...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28578170/can-venous-cord-gas-values-predict-fetal-acidemia
#15
Kate Swanson, Anna R Whelan, William A Grobman, Emily S Miller
BACKGROUND: Umbilical cord arterial blood gas values are used to diagnose fetal acidemia; however, arterial cord blood specimens are frequently not available. OBJECTIVE: We sought to assess whether umbilical cord venous blood gas values can be used to reliably predict fetal acidemia. STUDY DESIGN: This is an observational study of women with a singleton gestation at a single tertiary care hospital who delivered from September 2010 through August 2015 and had both umbilical cord arterial and venous blood gas samples measured...
May 31, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28535199/genotype-phenotype-correlation-in-patients-with-isovaleric-acidemia-comparative-structural-modelling-and-computational-analysis-of-novel-variants
#16
Osama K Zaki, George Priya Doss C, Salsabil A Ali, Ghadeer G Murad, Shaima A Elashi, Maryam Sa Ebnou, D Thirumal Kumar, Ola Khalifa, Radwa Gamal, Heba S A El Abd, Bilal N Nasr, Hatem Zayed
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different variants: five were missense variants (c.1193G>A; p. R398Q, c.1207T>A; p. Y403N, c.872C>T; p...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28528348/effect-of-home-noninvasive-ventilation-with-oxygen-therapy-vs-oxygen-therapy-alone-on-hospital-readmission-or-death-after-an-acute-copd-exacerbation-a-randomized-clinical-trial
#17
RANDOMIZED CONTROLLED TRIAL
Patrick B Murphy, Sunita Rehal, Gill Arbane, Stephen Bourke, Peter M A Calverley, Angela M Crook, Lee Dowson, Nicholas Duffy, G John Gibson, Philip D Hughes, John R Hurst, Keir E Lewis, Rahul Mukherjee, Annabel Nickol, Nicholas Oscroft, Maxime Patout, Justin Pepperell, Ian Smith, John R Stradling, Jadwiga A Wedzicha, Michael I Polkey, Mark W Elliott, Nicholas Hart
Importance: Outcomes after exacerbations of chronic obstructive pulmonary disease (COPD) requiring acute noninvasive ventilation (NIV) are poor and there are few treatments to prevent hospital readmission and death. Objective: To investigate the effect of home NIV plus oxygen on time to readmission or death in patients with persistent hypercapnia after an acute COPD exacerbation. Design, Setting, and Participants: A randomized clinical trial of patients with persistent hypercapnia (Paco2 >53 mm Hg) 2 weeks to 4 weeks after resolution of respiratory acidemia, who were recruited from 13 UK centers between 2010 and 2015...
June 6, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28472612/acidemia-and-blood-free-fatty-acids-analysis-of-cardiovascular-risk-factors-in-a-new-context
#18
António Heitor Reis
Following a hypothesis developed in an earlier paper, here it is discussed how deviations of blood pH from the normal range (namely states of acidemia) together with high blood levels of free fatty acids (FFA) may offer a rationale for many important risk factors for cardiovascular diseases (CVD) by shaping a context for formation of fatty acid micelles and vesicles with an acidic core, which fuse with the endothelia, disrupt vital cell processes, and thereby may initiate atherosclerotic plaque formation. Acidemia may arise primarily from dysregulation of the systemic buffers that control blood pH, chronic diseases of kidneys and lungs, inappropriate diet, or may be induced by some common drugs...
March 2017: Discovery Medicine
https://www.readbyqxmd.com/read/28465843/hypercapnea-and-acidemia-despite-hyperventilation-following-endotracheal-intubation-in-a-case-of-unknown-severe-salicylate-poisoning
#19
Shannon M Fernando, Valérie Charbonneau, Hans Rosenberg
Salicylates are common substances for deliberate self-harm. Acute salicylate toxicity is classically associated with an initial respiratory alkalosis, followed by an anion gap metabolic acidosis. The respiratory alkalosis is achieved through hyperventilation, driven by direct stimulation on the respiratory centers in the medulla and considered as a compensatory mechanism to avoid acidemia. However, in later stages of severe salicylate toxicity, patients become increasingly obtunded, with subsequent loss of airway reflexes, and therefore intubation may be necessary...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28456887/heterogeneous-phenotypes-in-lipid-storage-myopathy-due-to-etfdh-gene-mutations
#20
Corrado Angelini, Daniela Tavian, Sara Missaglia
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state...
April 30, 2017: JIMD Reports
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