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https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#1
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27905109/a-lethal-neonatal-phenotype-of-mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency
#2
F Al Mutairi, H E Shamseldin, M Alfadhel, R J Rodenburg, F S Alkuraya
Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine. Deficiency of this enzyme was recently shown to cause an early childhood Leigh syndrome phenotype. The few reported patients were compound heterozygotes for two missense or missense with truncating variants in ECHS1 that encodes SCEH. We describe two siblings with severe refractory lactic acidosis and death within the first 2 days of life...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27899309/repeated-misdiagnosis-of-a-relapsed-atypical-anti-nmda-receptor-encephalitis-without-an-associated-ovarian-teratoma
#3
Weihe Zhang, Li Yan, Jinsong Jiao
We present an atypical case of relapsed anti-NMDAR encephalitis in a young female patient without an associated ovarian teratoma. She presented with recurrent seizure attacks with muscle weakness, psychosis, dyskinesia, autonomic failure and insomnia. She was first misdiagnosed as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) then Hashimoto's encephalopathy due to diffuse cerebral lesions, elevated serum lactic acid concentration, increased amount of thyroid peroxidase and thyroglobulin antibodies in serum and diffuse lesions of the thyroid gland...
November 26, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#4
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27891257/melas-syndrome-with-cardiac-involvement-a-multimodality-imaging-approach
#5
Sara Seitun, Laura Massobrio, Anna Rubegni, Claudia Nesti, Margherita Castiglione Morelli, Sara Boccalini, Athena Galletto Pregliasco, Irilda Budaj, Luca Deferrari, Gian Marco Rosa, Fabrizio Montecucco, Alberto Valbusa
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNA(Leu(UUR)) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27881583/acute-oesophageal-necrosis-in-a-young-man-with-cocaine-and-alcohol-abuse
#6
Caleb Evans Pineo, Thomas Zeitler Pineo
We report a case of acute oesophageal necrosis (AEN) and non-occlusive mesenteric ischaemia in an otherwise healthy 30-year-old man with cocaine and alcohol abuse. Although cocaine might be expected more frequently to cause oesophageal necrosis through sympathomimetic vasoconstriction, this is only the second known case report of AEN in a patient with cocaine abuse. His symptoms at presentation included epigastric abdominal pain, haematemesis and generalised weakness. He developed moderate neutropenia and severe lactic acidosis...
November 23, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27878137/mitochondrial-cytopathy-with-common-melas-mutation-presenting-as-multiple-system-atrophy-mimic
#7
Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.(2) The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.(2).
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27869334/prediction-of-long-term-prognosis-by-heteroplasmy-levels-of-the-m-3243a-g-mutation-in-patients-with-the-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-syndrome
#8
A Fayssoil, P Laforêt, W Bougouin, C Jardel, A Lombès, H M Bécane, N Berber, T Stojkovic, A Béhin, B Eymard, D Duboc, K Wahbi
BACKGROUND AND PURPOSE: Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation. METHODS: Adults with the m.3243A>G mutation referred to our institution between January 2000 and May 2014 were retrospectively included. The relationship between their baseline clinical characteristics, their mutation load in urine and blood, and major adverse events (MAEs) during follow-up, defined as medical complications requiring a hospitalization or complicated by death, was studied...
November 21, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27864301/bacteraemia-due-to-parvimonas-micra-a-commensal-pathogen-in-a-patient-with-an-oesophageal-tumour
#9
Rafael García Carretero, Esther Luna-Heredia, Monica Olid-Velilla, Oscar Vazquez-Gomez
A man aged 53 years was admitted to our hospital due to general malaise, fever and chills for the past 24 hours. He had a history of chronic alcoholic liver disease. The blood tests showed leucocytosis with neutrophilia, lactic acidosis and acute-phase reactants. The blood cultures were positive for Parvimonas micra, an anaerobic pathogen which is part of the flora of the oral cavity. There was no evidence of abscess formation in either the examination or the imaging tests, but in the work-up that followed, a gastroscopy showed a stenotic oesophageal mass that turned out to be an invasive squamous cell carcinoma...
November 18, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27861334/lactic-acidosis-and-the-relationship-with-metformin-usage-case-reports
#10
Weiyi Huang, Ronald L Castelino, Gregory M Peterson
AIMS: The principal objective of this study was to retrospectively review a series of cases of lactic acidosis (LA) in patients with type 2 diabetes mellitus (T2DM) and examine the relationship with the use of metformin. More generally, the study enabled an investigation of the profiles of patients diagnosed with LA and clinical variables associated with in-hospital mortality. METHODS: All patients admitted to the Royal Hobart Hospital in Tasmania with LA (lactate >5...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27858371/hyperammonemia-as-a-presenting-feature-in-two-siblings-with-fbxl4-variants
#11
Sarah U Morton, Edward G Neilan, Roy W A Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne, Kyriacos Markianos, Sanjay P Prabhu, Pankaj B Agrawal
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4 who each presented in the neonatal period with hyperammonemia, low plasma levels of aspartate, low urine levels of tricarboxylic acid cycle intermediates suggesting a defect in anaplerosis, and cerebellar hypoplasia in addition to lactic acidosis and other classic signs of mitochondrial encephalomyopathy...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27852654/cobalt-cardiomyopathy-a-critical-reappraisal-in-light-of-a-recent-resurgence
#12
Milton Packer
Cobalt can cause a distinctive, rapidly progressive and reversible depression of cardiac systolic function, which is readily distinguished from other causes of cardiomyopathy. Patients present with the subacute onset of severe heart failure, which is accompanied by hypotension and cyanosis, pericardial effusion, low voltage on the electrocardiogram, marked elevation of serum enzymes, and lactic acidosis. They typically have a history of lethargy, anorexia, and weight loss in the months preceding the illness and exhibit other evidence of cobalt's effects on the body (eg, polycythemia and goiter)...
December 2016: Circulation. Heart Failure
https://www.readbyqxmd.com/read/27851544/1909-severe-lactic-acidosis-in-an-asthmatic-patient-receiving-extended-beta-agonist-therapy
#13
Yuriy Takhalov, Anne Sutherland, Andrew Berman
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851362/1727-type-b-lactic-acidosis-and-hypoglycemia-as-primary-presentation-of-hiv-associated-burkitt-lymphoma
#14
Ashley Quinn, Aneeqah Baig, Amit Taneja
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851361/1726-malignant-lactic-acidosis-secondary-to-burkitt-lymphoma-presenting-with-supraventricular-tachycardia
#15
Niral Patel, Stephen Winter
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851320/1685-type-b-lactic-acidosis-in-diabetic-ketoacidosis-responding-to-thiamine-therapy
#16
Ronish Gupta, James Dayre McNally
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851308/1673-an-unusual-case-of-type-b-lactic-acidosis-in-the-industrialized-world
#17
Mark Connelly, David Steinhorn, Craig Futterman, Anthony Sochet
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851156/1520-back-to-the-basics-predictors-of-operative-intervention-in-patients-with-lactic-acidosis
#18
Brittany Bankhead-Kendall, Eliza Slama, Pavan Isanaka, Virginia Parker, Amy Braddock
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27847739/epinephrine-induced-lactic-acidosis-in-orthognathic-surgery-a-report-of-two-cases
#19
Hee-Won Son, Se-Hun Park, Hyun-Oh Cho, Yong-Joon Shin, Jang-Ho Son
Submucosal infiltration and the topical application of epinephrine as a vasoconstrictor produce excellent hemostasis during surgery. The hemodynamic effects of epinephrine have been documented in numerous studies. However, its metabolic effects (especially during surgery) have been seldom recognized clinically. We report two cases of significant metabolic effects (including lactic acidosis and hyperglycemia) as well as hemodynamic effects in healthy patients undergoing orthognathic surgery with general anesthesia...
October 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#20
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
September 13, 2016: Pediatric Neurology
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