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https://www.readbyqxmd.com/read/28931047/association-between-perinatal-hypoxic-ischemia-and-periventricular-leukomalacia-in-preterm-infants-a-systematic-review-and-meta-analysis
#1
Jichong Huang, Li Zhang, Bingyao Kang, Tingting Zhu, Yafei Li, Fengyan Zhao, Yi Qu, Dezhi Mu
BACKGROUND: Although investigators have implicated hypoxic-ischemia (HI) as a potential cause of periventricular leukomalacia (PVL), the role of clinical risk factors or markers for HI in the development of PVL remains controversial. The aim of this study was to identify perinatal HI-related factors associated with PVL. METHOD: The PubMed, EMBASE, and Cochrane Library databases were searched. The last search was performed on January 2017. Summary effect estimates (pooled odds ratios [ORs]) were calculated for each risk factor using fixed or random effects models with tests for heterogeneity and publication bias...
2017: PloS One
https://www.readbyqxmd.com/read/28925364/generation-and-characterization-of-a-human-ipsc-line-from-a-patient-with-propionic-acidemia-due-to-defects-in-the-pcca-gene
#2
Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#3
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#4
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28900861/acute-kidney-injury-caused-by-decompression-illness-successfully-treated-with-hyperbaric-oxygen-therapy-and-temporary-dialysis
#5
Arata Hibi, Keisuke Kamiya, Takahisa Kasugai, Keisuke Kamiya, Satoru Kominato, Chiharu Ito, Toshiyuki Miura, Katsushi Koyama
A 52-year-old Japanese male professional diver was referred to our hospital for decompression illness (DCI). After 1 h of diving operation at 20 m below sea level, he complained of dyspnea, chest pain, and abdominal pain. He dove again, intending to ease the symptoms, but the symptoms were never relieved. He dove for a total of 4 h. No neurological abnormalities were observed. Computed tomography images revealed portal venous gas and mesenteric venous gas, in addition to bubbles in the femoral veins, pelvis, lumbar canal, intracranial sinuses, and joints...
September 12, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28898615/breech-presentation-vaginal-versus-cesarean-delivery-which-intervention-leads-to-the-best-outcomes
#6
Andreia Fonseca, Rita Silva, Inês Rato, Ana Raquel Neves, Carla Peixoto, Zita Ferraz, Inês Ramalho, Ana Carocha, Nisa Félix, Sandra Valdoleiros, Ana Galvão, Daniela Gonçalves, Joana Curado, Maria João Palma, Isabel Lobo Antunes, Nuno Clode, Luís Mendes Graça
INTRODUCTION: The best route of delivery for the term breech fetus is still controversial. We aim to compare maternal and neonatal outcomes between vaginal and cesarean term breech deliveries. MATERIAL AND METHODS: Multicentric retrospective cohort study of singleton term breech fetuses delivered vaginally or by elective cesarean section from January 2012 - October 2014. Primary outcomes were maternal and neonatal morbidity or mortality. RESULTS: Sixty five breech fetuses delivered vaginally were compared to 1262 delivered by elective cesarean...
June 30, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#7
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28888605/effects-of-profound-acidemia-on-the-dynamic-glucose-and-insulin-response-and-plasma-potassium-and-phosphorus-concentrations-during-an-intravenous-glucose-tolerance-test-in-neonatal-calves
#8
F M Trefz, I Lorenz, P D Constable
Acidemia and electrolyte imbalances such as hyperkalemia are common in neonatal calves with diarrhea. Acidemia negatively affects the cellular response to insulin and may therefore result in deranged glucose, potassium, and phosphorus homeostasis. The primary aim of this study was to compare indices that characterize the dynamic glucose and insulin response between acidemic and nonacidemic neonatal diarrheic calves and a healthy control group during an intravenous glucose tolerance test (IVGTT) that consisted of i...
September 6, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28868294/integration-of-proteomics-and-metabolomics-in-exploring-genetic-and-rare-metabolic-diseases
#9
REVIEW
Michele Costanzo, Miriam Zacchia, Giuliana Bruno, Daniela Crisci, Marianna Caterino, Margherita Ruoppolo
BACKGROUND: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases, particularly in children; however, they are individually rare. Clinical phenotypes are very variable, some of them remain asymptomatic, others manifest metabolic decompensation in neonatal age, and others encompass mental retardation at later age...
July 2017: Kidney Diseases
https://www.readbyqxmd.com/read/28856627/autism-spectrum-disorders-in-propionic-acidemia-patients
#10
Caroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, Anaïs Brassier, Jean-Baptiste Arnoux, Vassili Valayannopoulos, Anne-Sophie Guemann, Clément Pontoizeau, Stéphanie Gobin, Florence Habarou, Florence Lacaille, Jean-Paul Bonnefont, Pierre Canouï, Chris Ottolenghi, Pascale De Lonlay, Lisa Ouss
Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiatric evaluation of 19 children, adolescents and young adults, aged between 2 and 25 years, using ADI-R, CARS-T, as well as ADOS when autism spectrum disorder was suspected. Previous psychometric examinations were also taken into consideration. Thirteen patients had an IQ < 80...
August 30, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28853722/propionic-acidemia-as-a-cause-of-adult-onset-dilated-cardiomyopathy
#11
Moniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, Gajja S Salomons, Sacha Ferdinandusse, Martijn C G J Brouwers, Liesbeth van der Ploeg, Stephane Heymans, Jan F C Glatz, Arthur van den Wijngaard, Ingrid P C Krapels, Jörgen Bierau, Han G Brunner
Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can also cause adult-onset DCM is currently unknown. Therefore, we performed an extensive metabolic screening in 36 consecutive adult-onset DCM patients. Diagnoses were confirmed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
August 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28822385/pneumatosis-intestinalis-in-patients-receiving-tube-feeds
#12
Alexander C Cavalea, Robert E Heidel, Brian J Daley, Christy M Lawson, Darrell A Benton, James M McLoughlin
Pneumatosis intestinalis (PI) identified on computed tomography (CT) suggests an underlying pathology including bowel ischemia. Patients receiving tube feeds can develop PI, potentially requiring surgical intervention. We identify clinical factors in PI to predict those that may be safe to observe versus those that need immediate intervention. We retrospectively reviewed patients from a single institution from 2008 to 2016 with CT findings of PI and an enteric feeding tube. Patients who had not received tube feeds within one week of the CT were excluded...
August 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28820736/long-qt-syndrome-diagnosed-in-two-sisters-with-propionic-acidemia-a-case-report
#13
Ensar Duras, Ahmet İrdem, Ozan Özkaya
Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28817693/clinical-signs-profound-acidemia-hypoglycemia-and-hypernatremia-are-predictive-of-mortality-in-1-400-critically-ill-neonatal-calves-with-diarrhea
#14
Florian M Trefz, Ingrid Lorenz, Annette Lorch, Peter D Constable
Profound acidemia impairs cellular and organ function and consequently should be associated with an increased risk of mortality in critically ill humans and animals. Neonatal diarrhea in calves can result in potentially serious metabolic derangements including profound acidemia due to strong ion (metabolic) acidosis, hyper-D-lactatemia, hyper-L-lactatemia, azotemia, hypoglycemia, hyperkalemia and hyponatremia. The aim of this retrospective study was to assess the prognostic relevance of clinical and laboratory findings in 1,400 critically ill neonatal calves with diarrhea admitted to a veterinary teaching hospital...
2017: PloS One
https://www.readbyqxmd.com/read/28812454/risk-factors-for-intrapartum-acidemia-a-cohort-study
#15
Stina Wretler, Lennart Nordström, Sophie Graner, Malin Holzmann
PURPOSE: Birth acidemia is associated with short- and long-term morbidity in the child. Optimal intrapartum surveillance and timely interventions may reduce the incidence of these outcomes. Knowledge about conditions which increase the risks might be beneficial for optimal care. The aim with this study was to identify factors which increased the risk for lactacidemia in fetal scalp blood. MATERIALS AND METHODS: A secondary analysis of a cohort study performed at Karolinska University Hospital Stockholm Sweden between February 2009 and February 2011...
August 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#16
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28803436/acute-regulated-expression-of-pendrin-in-human-urinary-exosomes
#17
Ganesh Pathare, Nasser Dhayat, Nilufar Mohebbi, Carsten A Wagner, Lydie Cheval, Thomas J Neuhaus, Daniel G Fuster
It is well known that pendrin, an apical Cl(-)/HCO3(-)exchanger in type B intercalated cells, is modulated by chronic acid-base disturbances and electrolyte intake. To study this adaptation further at the acute level, we analyzed urinary exosomes from individuals subjected to oral acute acid, alkali, and NaCl loading. Acute oral NH4Cl loading (n = 8) elicited systemic acidemia with a drop in urinary pH and an increase in urinary NH4 excretion. Nadir urinary pH was achieved 5 h after NH4Cl loading. Exosomal pendrin abundance was dramatically decreased at 3 h after acid loading...
August 12, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28798240/tetraparesia-an-unusual-presentation-of-disseminated-tuberculosis
#18
Filipa Quaresma, Margarida Bentes Jesus
A 48-year-old man with a 4 months history of asthenia, anorexia, 10 kg weight loss and 1 month of hematuria and dysuria was admitted to another hospital for sudden muscular weakness. He was found to have areflexic tetraparesis and was referred to our hospital.On admission, he was bradycardic, tachypneic, with flaccid tetraplegia. Laboratory results showed metabolic acidemia, severe hyperkalemia and hyponatremia, acute renal dysfunction and sterile pyuria. After hyperkalemia correction, the neurological symptoms resolved...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28774709/treatment-with-antioxidants-ameliorates-oxidative-damage-in-a-mouse-model-of-propionic-acidemia
#19
Ana Rivera-Barahona, Esmeralda Alonso-Barroso, Belén Pérez, Michael P Murphy, Eva Richard, Lourdes R Desviat
Oxidative stress contributes to the pathogenesis of propionic acidemia (PA), a life threatening disease caused by the deficiency of propionyl CoA-carboxylase, in the catabolic pathway of branched-chain amino acids, odd-number chain fatty acids and cholesterol. Patients develop multisystemic complications including seizures, extrapyramidal symptoms, basal ganglia deterioration, pancreatitis and cardiomyopathy. The accumulation of toxic metabolites results in mitochondrial dysfunction, increased reactive oxygen species and oxidative damage, all of which have been documented in patients' samples and in a hypomorphic mouse model...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28762469/impairment-of-gabaergic-system-contributes-to-epileptogenesis-in-glutaric-acidemia-type-i
#20
Mayara Vendramin Pasquetti, Letícia Meier, Samanta Loureiro, Marcelo Ganzella, Bernardo Junges, Letícia Barbieri Caus, Alexandre Umpierrez Amaral, David M Koeller, Stephen Goodman, Michael Woontner, Diogo Onofre Gomes de Souza, Moacir Wajner, Maria Elisa Calcagnotto
OBJECTIVES: Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain parenchyma. The increment of these organic acids inhibits glutamate decarboxylase (GAD) and consequently lowers the γ-aminobutyric acid (GABA) synthesis. Untreated patients exhibit severe neurologic deficits during development, including epilepsy, especially following an acute encephalopathy outbreak...
August 1, 2017: Epilepsia
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