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https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#1
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28080206/probiotics-d-lactic-acidosis-oxidative-stress-and-strain-specificity
#2
Luis Vitetta, Samantha Coulson, Michael Thomsen, Tony Nguyen, Sean Hall
1. The existence of an implicit living microscopic world, composed primarily of bacteria, has been known for centuries. The exact mechanisms that govern the contribution of bacteria to human health and disease have only recently become the subject of intense research efforts. Within this very evident shift in paradigms, the rational design of probiotic formulations has led to the creation of an industry that seeks to progress the engineering of probiotic bacteria that produce metabolites that may enhance human host health and prevent disease...
January 12, 2017: Gut Microbes
https://www.readbyqxmd.com/read/28077541/the-role-of-bicarbonate-precursors-in-balanced-fluids-during-haemorrhagic-shock-with-and-without-compromised-liver-function
#3
B Ergin, A Kapucu, P Guerci, C Ince
BACKGROUND: Lactate, acetate, and gluconate are anions used in balanced resuscitation fluids, of which lactate and acetate are considered bicarbonate precursors. This study investigated the role of the liver in the ability of balanced and unbalanced solutions to correct acid-base alterations and renal haemodynamics and microvascular oxygenation in a rat model of resuscitated haemorrhagic shock. METHODS: Ringer's lactate, Ringer's acetate, PlasmaLyte, or normal saline were administered following haemorrhagic shock in the presence or absence of a 70% partial liver resection...
October 2016: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28076676/use-of-metformin-for-cardiometabolic-risks-in-psychiatric-practice-need-to-know-safety-issues
#4
Chittaranjan Andrade
Metformin, a biguanide drug, is emerging as an important treatment option for the prevention or treatment of weight gain, type 2 diabetes mellitus, and the metabolic syndrome in psychiatric patients, especially those who require or receive antipsychotic drugs. Metformin treatment is commonly associated with gastrointestinal adverse effects; the risk of these is reduced by gradual dose uptitration, administration of the drug with meals, and use of a time-release formulation. Lactic acidosis, a potentially fatal complication of biguanide therapy, is very rare with metformin; the risk can be reduced by avoidance of its prescription in patients with impaired renal function, impaired liver function, cardiac failure, and certain other conditions...
November 2016: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28070695/barth-syndrome-connecting-cardiolipin-to-cardiomyopathy
#5
REVIEW
Nikita Ikon, Robert O Ryan
The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively traced to mutations in the tafazzin (TAZ) gene locus on chromosome X. TAZ encodes a phospholipid transacylase that promotes cardiolipin acyl chain remodeling. Absence of tafazzin activity results in cardiolipin molecular species heterogeneity, increased levels of monolysocardiolipin and lower cardiolipin abundance...
January 9, 2017: Lipids
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#6
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28064324/mitochondrial-iron-sulfur-cluster-biogenesis-from-molecular-understanding-to-clinical-disease
#7
Majid Alfadhel, Marwan Nashabat, Qais Abu Ali, Khalid Hundallah
Iron_sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28057513/enterolobium-contortisiliquum-is-a-cause-of-acute-ruminal-acidosis-in-sheep
#8
Rayane C Pupin, Paula V Leal, Stephanie C Lima, Gleice Kelli A Melo, Arnildo Pott, Marcelo A Araújo, Claudio S L Barros, Ricardo A A Lemos
The ingestion of pods of Enterolobium contortisiliquum is associated with digestive disturbances, photosensitivity and abortion in domestic ruminants. This experiment was designed to test the hypothesis that digestive disturbances in this toxicosis are really caused by acute ruminal acidosis. Three sheep fed large doses (10-15 g/kg/body weight [bw]) of E. contortisiliquum pods developed ruminal acidosis and were treated with sodium bicarbonate to try to control this metabolic disturbance, thus providing additional evidence of the involvement of ruminal acidosis in the pathogenesis of toxicosis...
January 3, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28050007/adult-onset-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-melas-like-encephalopathy-diagnosed-based-on-the-complete-sequencing-of-mitochondrial-dna-extracted-from-biopsied-muscle-without-any-myopathic-changes
#9
Masako Mukai, Eiichiro Nagata, Atsushi Mizuma, Mitsuhiko Yamano, Keizo Sugaya, Ichizo Nishino, Yu-Ichi Goto, Shunya Takizawa
The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28040730/mutations-in-the-accessory-subunit-ndufb10-result-in-isolated-complex-i-deficiency-and-illustrate-the-critical-role-of-intermembrane-space-import-for-complex-i-holoenzyme-assembly
#10
Marisa W Friederich, Alican J Erdogan, Curtis R Coughlin, Mihret T Elos, Hua Jiang, Courtney P O'Rourke, Mark A Lovell, Eric Wartchow, Katherine Gowan, Kathryn C Chatfield, Wallace S Chick, Elaine B Spector, Johan L K Van Hove, Jan Riemer
An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part of complex I. One mutation resulted in a premature stop codon and absent protein, while the second mutation replaced the highly conserved cysteine 107 with a serine residue. Protein expression of NDUFB10 was decreased in muscle and heart, and less so in the liver and fibroblasts, resulting in the perturbed assembly of the holoenzyme at the 830 kDa stage...
December 30, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28017408/a-quick-reference-on-high-anion-gap-metabolic-acidosis
#11
REVIEW
Silvia Funes, Helio Autran de Morais
High anion gap (AG) metabolic acidoses can be identified by a decrease in pH, decrease in HCO3(-) or base excess, and an increased AG. The AG represents the difference between unmeasured cations and unmeasured anions; it increases secondary to the accumulation of anions other than bicarbonate and chloride. The most common causes of high AG acidosis are renal failure, diabetic ketoacidosis, and lactic acidosis. Severe increases in concentration of phosphorus can cause hyperphosphatemic acidosis.
December 22, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27995333/graphene-nanoflakes-on-transparent-glass-electrode-sensor-for-electrochemical-sensing-of-anti-diabetic-drug
#12
Jagriti Narang, Nitesh Malhotra, Chaitali Singhal, Rishabh Bhatia, Vikas Kathuria, Manan Jain
Metformin (Mf) plays a major role in controlling insulin level of individuals at risk of developing diabetes mellitus. Overdose of Mf can cause lactic acidosis, diarrhoea, cough, or hoarseness, etc. These particulars point out the identification for selective and sensitive methods of Mf determination. In the present work, graphene nanoflakes-polymethylene blue (GNF-PMB) nano-composites were developed onto fluorine-doped tin oxide (SnO2/F) coated glass substrates for electrochemical sensing of Mf using cyclic voltammetry (CV) and electrochemical impedance spectroscopy (EIS)...
December 19, 2016: Bioprocess and Biosystems Engineering
https://www.readbyqxmd.com/read/27995076/diagnosis-of-lchad-tfp-deficiency-in-an-at-risk-newborn-using-umbilical-cord-blood-acylcarnitine-analysis
#13
Donna B Raval, Kristina P Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H Kofman, Brendan Lanpher, Natalie Hauser, Debra S Regier
Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates. We present a 4 week old female who was at risk of inheriting LCHAD/TFP deficiency and was diagnosed at the time of delivery using umbilical cord blood...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27993886/acquired-dysfibrinogenemia-caused-by-autoantibody-inhibiting-fibrin-polymerization-in-a-patient-with-melas-syndrome-and-bleeding-tendency
#14
Nuri Lee, Ji-Eun Kim, Hyun Ju Yoo, JaYoon Gu, Hyori Kim, Junho Chung, Youngil Koh, Hyun Kyung Kim
We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. ELISA for detection of fibrinogen antibodies were performed and IgG purified from the patient's plasma bound to fibrinogen more strongly than did control IgG, indicating the presence of a fibrinogen-specific antibody...
December 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27993148/blood-transfusion-improves-renal-oxygenation-and-renal-function-in-sepsis-induced-acute-kidney-injury-in-rats
#15
Lara Zafrani, Bulent Ergin, Aysegul Kapucu, Can Ince
BACKGROUND: The effects of blood transfusion on renal microcirculation during sepsis are unknown. This study aimed to investigate the effect of blood transfusion on renal microvascular oxygenation and renal function during sepsis-induced acute kidney injury. METHODS: Twenty-seven Wistar albino rats were randomized into four groups: a sham group (n = 6), a lipopolysaccharide (LPS) group (n = 7), a LPS group that received fluid resuscitation (n = 7), and a LPS group that received blood transfusion (n = 7)...
December 20, 2016: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/27976562/venlafaxine-intoxication-in-an-adolescent-presenting-with-severe-lactic-acidosis
#16
İrem Eldem, Tanıl Kendirli, Ebru Azapağası, Gülşah Özdemir, Çisem Yıldız, Mehmet Mustafa Yılmaz, Özlem Karataşoğlu, Elif Benderlioğlu
Venlafaxine is a selective serotonin noradrenaline reuptake inhibitor and commonly prescribed antidepressant in adults. Most patients overdosing with venlafaxine develop only mild symptoms. Severe toxicity is reported with the most common symptoms being CNS depression, serotonin toxicity, seizure, or cardiac conduction abnormalities. However, lactic acidosis is an uncommon adverse effect. Here, we present the first case in the literature reporting lactic acidosis due to venlafaxine overuse in an adolescent.
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27975067/hyperlactatemia-and-the-outcome-of-type-2-diabetic-patients-suffering-acute-myocardial-infarction
#17
Jovanovic Aleksandar, Peric Vladan, Snezana Markovic-Jovanovic, Radojica Stolic, Jadranka Mitic, Tanja Smilic
Background. Increased lactate production is frequent in unregulated/complicated diabetes mellitus. Methods. Three groups, each consisting of 40 patients (type 2 diabetics with myocardial infarction, DM+AMI, nondiabetics suffering myocardial infarction, MI, and diabetics with no apparent cardiovascular pathology, DM group), were tested for pH, serum bicarbonate and electrolytes, blood lactate, and CK-MB. Results. Blood lactate levels were markedly higher in AMI+DM compared to MI group (4.54 ± 1.44 versus 3...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27974893/recoverable-record-high-lactic-acidosis-in-a-patient-with-glycogen-storage-disease-type-1-a-mixed-type-a-and-type-b-lactate-disorder
#18
Yonatan Oster, Isaiah D Wexler, Samuel N Heyman, Elchanan Fried
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27973917/mitochondrial-variations-in-the-mt-nd4-and-mt-tl1-genes-are-associated-with-male-infertility
#19
Feng Ni, Yun Zhou, Wen-Xiang Zhang, Xue-Mei Wang, Xiao-Min Song, Hong Jiang
: Mitochondrial gene mutations have been reported to be associated with sperm motility and the quality of semen. The aim of this study was to investigate whether the two mitochondrial genes (MT-ND4 and MT-TL1) are involved in Chinese male infertility. A total of 97 asthenospermia patients and 80 fertile controls were recruited in this case-control study. Genomic DNA were extracted from the sperm of all participants. Two mitochondrial DNA genes (MT-ND4 and MT-TL1) were amplified by using polymerase chain reaction (PCR) with the gene-specific primers and sequenced on an ABI 3730XL DNA sequencer...
December 14, 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27966425/-lactic-acidosis-in-a-24-year-old-woman-with-status-asthmaticus
#20
Lana Ramazan-Yousif, Signe Albertsen, Troels K Bergmann, Poul Henning Madsen, Nick Phaff Steen
A 24-year-old woman with asthma presented with symptoms of upper airway infection and tachypnoea and wheezes. She had a history of admissions to intensive care units (ICU) due to respiratory insufficiency. The initial lactate concentration was 2.1 mmol/l. The treatment consisted of inhaled and intravenous β ² agonists. Hereafter, the lactate concentration rose to 9.8 mmol/l, and the patient was admitted to the ICU due to severe asthma exacerbation. The elevation of lactate concentration cleared after discontinuation of β ² agonist therapy...
December 12, 2016: Ugeskrift for Laeger
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