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https://www.readbyqxmd.com/read/29339464/propionate-enters-gabaergic-neurons-inhibits-gaba-transaminase-causes-gaba-accumulation-and-lethargy-in-a-model-of-propionic-acidemia
#1
Cecilie Morland, Anne-Sofie Frøland, Mi Nyguyen Pettersen, Jon Storm-Mathisen, Vidar Gundersen, Frode Rise, Bjørnar Hassel
Propionic acidemia is the accumulation of propionate in blood due to dysfunction of propionyl-CoA carboxylase. The condition causes lethargy and striatal degeneration with motor impairment in humans. How propionate exerts its toxic effect is unclear. Here we show that intravenous administration of propionate causes dose-dependent propionate accumulation in the brain and transient lethargy in mice. Propionate, an inhibitor of histone deacetylase, entered GABAergic neurons, as could be seen from increased neuronal histone H4 acetylation in striatum and neocortex...
January 16, 2018: Biochemical Journal
https://www.readbyqxmd.com/read/29335781/peripartum-events-associated-with-severe-neurologic-morbidity-and-mortality-among-acidemic-neonates
#2
Sivan Zuarez-Easton, Sally Hosary, Noah Zafran, Gali Garmi, Clari Felszer, Raed Salim
PURPOSE: To identify peripartum events that may predict the development of short-term neurologic morbidity and mortality among acidemic neonates. METHODS: Retrospective case-control study conducted at a single-teaching hospital on data from January 2010 to December 2015. The study cohort group included all acidemic neonates (cord artery pH ≤ 7.1) born at ≥ 34 weeks. Primary outcome was a composite including any of the following: neonatal encephalopathy, convulsions, intra-ventricular hemorrhage, or neonatal death...
January 15, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#3
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
January 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29319732/a-fatal-and-metabolic-experimental-hemorrhagic-shock-in-immature-swine
#4
Simone Alves Dos Santos Ferreira, Ana Cristina de Moraes, Renato Giuseppe Giovanni Terzi, Evandro Luis Assis Ferreira, William Adalberto Silva, Marcos Mello Moreira
PURPOSE: To use blood lactate (BL) as an end-point metabolic marker for the begin resuscitation of volume replacement in experimental hemorrhagic shock. METHODS: Group I (n=7) was not bled (Control). Animals in Group II (n=7) were bled to a MAP of 30mmHg in thirty minutes. Hemodynamic and metabolic data were recorded at Baseline, at 30, 60 and 120 minutes after Baseline. The animals were intubated in spontaneous breathing (FIO2=0.21) with halothane. RESULTS: Group I all survived...
December 2017: Acta Cirúrgica Brasileira
https://www.readbyqxmd.com/read/29314318/two-novel-cps1-mutations-in-a-case-of-carbamoyl-phosphate-synthetase-1-deficiency-causing-hyperammonemia-and-leukodystrophy
#5
Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. The onset of CPS1D can be at any age, and the clinical manifestations are variable and atypical. Genetic tests are indispensable for accurate diagnosis of CPS1D on the basis of biochemical tests. METHODS: Blood tandem mass spectrometric analysis and urea organic acidemia screening were performed on a Chinese neonatal patient with low activity, recurrent seizures, and hyperammonemia...
January 4, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29310826/changes-in-v-atpase-subunits-of-human-urinary-exosomes-reflect-the-renal-response-to-acute-acid-alkali-loading-and-the-defects-in-distal-renal-tubular%C3%A2-acidosis
#6
Ganesh Pathare, Nasser A Dhayat, Nilufar Mohebbi, Carsten A Wagner, Ion A Bobulescu, Orson W Moe, Daniel G Fuster
In the kidney, final urinary acidification is achieved by V-ATPases expressed in type A intercalated cells. The B1 subunit of the V-ATPase is required for maximal urinary acidification, while the role of the homologous B2 subunit is less clear. Here we examined the effect of acute acid/alkali loading in humans on B1 and B2 subunit abundance in urinary exosomes in normal individuals and of acid loading in patients with distal renal tubular acidosis (dRTA). Specificities of B1 and B2 subunit antibodies were verified by yeast heterologously expressing human B1 and B2 subunits, and murine wild-type and B1-deleted kidney lysates...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29310343/cerebrospinal-fluid-real-time-quaking-induced-conversion-test-for-sporadic-creutzfeldt-jakob-disease-in-an-18-year-old-woman-a-case-report
#7
Yuan Yao, Xiaoping Dong, Hongzhi Guan, Qiang Lu
RATIONALE: Sporadic Creutzfeldt-Jakob disease (sCJD) mainly occurs in the elderly, with the peak age of onset ranging from 55 to 75 years. The symptoms of sCJD are not unique, and laboratory tests such as magnetic resonance imaging (MRI), electroencephalogram (EEG) and cerebrospinal fluid (CSF)14-3-3 protein have low sensitivity or specificity. Therefore, excluding treatable diseases and establishing a diagnosis could be difficult in young patients with suspected sCJD. Recently, real-time quaking-induced conversion (RT-QuIC) has been used in the diagnosis of sCJD, with more than 95% sensitivity and 100% specificity...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29307858/biochemical-signatures-mimicking-multiple-carboxylase-deficiency-in-children-with-mutations-in-mt-atp6
#8
Austin A Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C Burrage, Ronit Marom, Brett H Graham, George A Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S Lane Rutledge, Amy Williamson, Lissette Estrella, Johan K L van Hove, James D Weisfeld-Adams
Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias and other inherited metabolic diseases. In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic acidemias and multiple carboxylase deficiencies were excluded. Using retrospective chart review, we identified eleven individuals with abnormally elevated propionylcarnitine (C3) or hydroxyisovalerylcarnitine (C5OH) with mutations in MT-ATP6, most commonly m...
January 4, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29301439/use-of-lactate-protm2-for-measurement-of-fetal-scalp-blood-lactate-during-labor-proposing-new-cutoffs-for-normality-preacidemia-and-acidemia-a-cross-sectional-study
#9
L Iorizzo, T W Klausen, E Wiberg-Itzel, F Ovin, N Wiberg
OBJECTIVE: Measurement of fetal scalp blood lactate is a supplementary tool to cardiotocography in the case of a non-reassuring tracing. Several hand-held lactate meters have been launched, all with differentials in absolute values. Therefore, the reference intervals must be calculated for each device. The internationally accepted reference interval is based on measurement with Lactate ProTM with recently got out of production. The aim of this study was to propose cutoffs for normality, preacidemia, and acidemia in fetal scalp blood for Lactate ProTM2 based on the comparison of lactate values measured with Lactate ProTM and Lactate ProTM2...
January 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29287294/outcomes-of-medically-indicated-preterm-births-differ-by-indication
#10
Michelle J Wang, Spencer G Kuper, Robin Steele, Rachel A Sievert, Alan T Tita, Lorie M Harper
OBJECTIVE:  We aim to examine whether outcomes of preterm birth (PTB) are further modified by the indication for delivery. STUDY DESIGN:  We performed a retrospective cohort study of all singletons delivered at 23 to 34 weeks from 2011 to 2014. Women were classified by their primary indication for delivery: maternal (preeclampsia) or fetal/obstetric (growth restriction, nonreassuring fetal status, and vaginal bleeding). The primary neonatal outcome was a composite of neonatal death, cord pH <7 or base excess < - 12, 5-minute Apgar ≤3, C-reactive protein during resuscitation, culture-proven sepsis, intraventricular hemorrhage, and necrotizing enterocolitis...
December 29, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29282788/mpv17-related-mitochondrial-dna-maintenance-defect-new-cases-and-review-of-clinical-biochemical-and-molecular-aspects
#11
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J Gambello, Pankaj Prasun, Saleem Raza, Hernando J Lyons, Manal Afqi, Mohammed A M Saleh, Eissa A Faqeih, Hamad I Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S Barbouth, Kei Murayama, Amit A Shah, Henry C Lin, Lee-Jun C Wong
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants...
December 27, 2017: Human Mutation
https://www.readbyqxmd.com/read/29276168/moderate-variability-does-not-rule-out-metabolic-acidemia-a-finding-which-may-change-how-we-conceptualize-fetal-heart-rate-monitoring
#12
Daniel J Kiely
No abstract text is available yet for this article.
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29262333/systemic-messenger-rna-therapy-as-a-treatment-for-methylmalonic-acidemia
#13
Ding An, Jessica L Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E Murphy-Benenato, E Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M Lukacs, Randy J Chandler, Lin T Guey, Charles P Venditti, Paolo G V Martini
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although promising, AAV gene therapy can be limited by pre-existing immunity and has been associated with genotoxicity in mice. To develop a new class of therapy for MMA, we generated a pseudoU-modified codon-optimized mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most frequently mutated in MMA, and encapsulated it into biodegradable lipid nanoparticles (LNPs)...
December 19, 2017: Cell Reports
https://www.readbyqxmd.com/read/29249369/a-novel-mutation-in-etfdh-manifesting-as-severe-neonatal-onset-multiple-acyl-coa-dehydrogenase-deficiency
#14
Francois H van der Westhuizen, Izelle Smuts, Engela Honey, Roan Louw, Maryke Schoonen, Lindi-Maryn Jonck, Marli Dercksen
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p.Gly356Glu) in exon 8 of ETFDH, in three South African Caucasian MADD patients with the index patient presenting the hallmark features of type I MADD and two patients with compound heterozygous (c...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29237523/-clinical-analysis-of-15%C3%A2-851-children-at-risk-of-inherited-metabolic-diseases
#15
Shu-Xiang Lin, Jian-Bo Shu, Chao Wang, Rui Pan, Ying-Tao Meng, Chun-Hua Zhang, Bi-Li Zhang, Dan Wang, Yu-Qin Zhang
OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29235940/slc9b1-methylation-predicts-fetal-intolerance-of-labor
#16
Anna K Knight, Karen N Conneely, Varun Kilaru, Dawayland Cobb, Jennifer L Payne, Samantha Meilman, Elizabeth J Corwin, Zachary A Kaminsky, Anne L Dunlop, Alicia K Smith
Fetal intolerance of labor is a common indication for delivery by Caesarean section. Diagnosis is based on the presence of category III fetal heart rate tracing, which is an abnormal heart tracing associated with increased likelihood of fetal hypoxia and metabolic acidemia. This study analyzed data from 177 unique women who, during their prenatal visits (7-15 weeks and/or 24-32 weeks) to Atlanta area prenatal care clinics, consented to provide blood samples for DNA methylation (HumanMethylation450 BeadChip) and gene expression (Human HT-12 v4 Expression BeadChip) analyses...
December 13, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29235064/induction-of-neuroinflammatory-response-and-histopathological-alterations-caused-by-quinolinic-acid-administration-in-the-striatum-of-glutaryl-coa-dehydrogenase-deficient-mice
#17
Alexandre Umpierrez Amaral, Bianca Seminotti, Janaína Camacho da Silva, Francine Hehn de Oliveira, Rafael Teixeira Ribeiro, Carmen Regla Vargas, Guilhian Leipnitz, Abel Santamaría, Diogo Onofre Souza, Moacir Wajner
Glutaric acidemia type I (GA I) is an inherited neurometabolic disorder caused by a severe deficiency of the mitochondrial glutaryl-CoA dehydrogenase (GCDH) activity. Patients usually present progressive cortical leukodystrophy and commonly develop acute bilateral striatal degeneration mainly during infections that markedly worse their prognosis. A role for quinolinic acid (QA), a key metabolite of the kynurenine pathway, which is activated during inflammatory processes, on the pathogenesis of the acute striatum degeneration occurring in GA I was proposed but so far has not yet been evaluated...
December 12, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#18
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/29177054/increase-in-branched-chain-amino-acids-due-to-acidemia-in-neonatal-calves-with-diarrhoea
#19
Kenji Tsukano, Hiroki Inoue, Kazuyuki Suzuki
The aim of this study was to investigate the relationships between acid-base status and plasma branched-chain amino acids (BCAA) concentration in calves with diarrhoea for intravenous nutrition, especially with amino acid solution in calves with diarrhoea. Thirty-four Holstein calves aged 11.0±5.9 days old were enrolled in this study. In 10 of 34 calves exhibiting clinical signs of diarrhoea, severe dehydration and acidemia were observed (severe group: pH: 7.04±0.11, base excess (BE): -17.4±4.5) based on blood gas analysis...
2017: Veterinary Record Open
https://www.readbyqxmd.com/read/29159707/propionyl-coa-carboxylase-pcca-1-and-pccb-1-gene-deletions-in-caenorhabditis-elegans-globally-impair-mitochondrial-energy-metabolism
#20
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, Stephen D Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J Bennett, Marni J Falk
Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C...
November 20, 2017: Journal of Inherited Metabolic Disease
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