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https://www.readbyqxmd.com/read/28936463/sea-food-consumption-for-improving-cardiac-and-cerebral-manifestations-of-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodes
#1
Fulvio A Scorza, Josef Finsterer
No abstract text is available yet for this article.
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28928980/common-yet-elusive-a-case-of-severe-anion-gap-acidosis
#2
Akanksha Agrawal, Marina Kishlyansky, Sylvia Biso, Soumya Patnaik, Chitra Punjabi
Acid-base disturbances are common occurrence in hospitalized patients with life threatening complications. 5-oxoproline has been increasingly recognized as cause of high anion gap metabolic acidosis (AGMA) in association with chronic acetaminophen use. However, laboratory workup for it are not widely available. We report case of 56-year-old female with severe AGMA not attributable to ketoacidosis, lactic acidosis or toxic ingestion. History was significant for chronic acetaminophen use, and laboratory workup negative for all frequent causes of AGMA...
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28919880/non-mammalian-vertebrates-distinct-models-to-assess-the-role-of-ion-gradients-in-energy-expenditure
#3
REVIEW
Caroline E Geisler, Kyle P Kentch, Benjamin J Renquist
Animals store metabolic energy as electrochemical gradients. At least 50% of mammalian energy is expended to maintain electrochemical gradients across the inner mitochondrial membrane (H(+)), the sarcoplasmic reticulum (Ca(++)), and the plasma membrane (Na(+)/K(+)). The potential energy of these gradients can be used to perform work (e.g., transport molecules, stimulate contraction, and release hormones) or can be released as heat. Because ectothermic species adapt their body temperature to the environment, they are not constrained by energetic demands that are required to maintain a constant body temperature...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#4
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/28914978/model-informed-dose-optimization-of-dichloroacetate-for-the-treatment-of-congenital-lactic-acidosis-in-children
#5
Naveen Mangal, Margaret O James, Peter W Stacpoole, Stephan Schmidt
Dichloroacetate (DCA) is an investigational drug used to treat congenital lactic acidosis and other mitochondrial disorders. Response to DCA therapy in young children may be suboptimal following body weight-based dosing. This is because of autoinhibition of its metabolism, age-dependent changes in pharmacokinetics, and polymorphisms in glutathione transferase zeta 1 (GSTZ1), its primary metabolizing enzyme. Our objective was to predict optimal DCA doses for the treatment of congenital lactic acidosis in children...
September 15, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28906389/risk-factor-analysis-for-nonocclusive-mesenteric-ischemia-following-cardiac-surgery-a-case-control-study
#6
Ju Yong Lim, Joon Bum Kim, Sung Ho Jung, Suk Jung Choo, Cheol Hyun Chung, Jae Won Lee
Although rare, postcardiac surgery nonocclusive mesenteric ischemia (NOMI) is a life-threatening condition. Identifying the risk factors for NOMI during immediate postoperative period may help early detection and intervention, which leads to improved clinical outcomes. The objective of this study was to identify the clinical features and risk factors of NOMI for prognosis identification after cardiac surgery, focusing on immediate postoperative parameters.Among 9445 patients who underwent cardiac surgery over a span of 9 years, 40 NOMI cases (0...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28905505/biallelic-variants-in-wars2-encoding-mitochondrial-tryptophanyl-trna-synthase-in-six-individuals-with-mitochondrial-encephalopathy
#7
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg
Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six individuals from five families presenting with either severe neonatal onset lactic acidosis, encephalomyopathy and early death or a later onset, more attenuated course of disease with predominating intellectual disability...
September 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28904487/hemodialysis-for-lactic-acidosis
#8
N Karthiraj, Nagarajan Ramakrishnan, Ashwin K Mani
Lactic acidosis (Type A) is common in critically ill patients and usually treated by correcting the underlying etiology. We present the case of a young female who presented with life-threatening lactic acidosis secondary to hematological malignancy. Timely initiation of hemodialysis was lifesaving. The case highlights the importance of considering Type B lactic acidosis (in this case secondary to a hematological malignancy) and also initiating renal replacement therapy when routine measures are ineffective.
August 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28894049/the-pathophysiological-basis-of-the-protective-effects-of-metformin-in-heart-failure
#9
Aleksandra Dziubak, Grażyna Wójcicka
Metformin, currently recommended as the drug of first choice in type 2 diabetes mellitus (T2DM), is one of the few antihiperglycemic drugs to reduce cardiovascular risk. Nonetheless, due to the risk of lactic acidosis during metformin therapy, its usage in patients with diabetes and heart failure (HF) is still a matter of debate. The aim of this review is to present data supporting the possibility of using metformin in the treatment of diabetic patients with concomitant heart failure. In the failing heart, metformin through the mechanism related to AMP-activated protein kinase (AMPK) activity, improves free fatty acids (FFA) and glucose metabolism, mitochondrial biogenesis, as well as nitric oxide (NO)-NO synthase pathway...
August 24, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28893805/melas-syndrome-associated-with-a-new-mitochondrial-trna-val-gene-mutation-m-1616a-g
#10
Yuka Toyoshima, Yuji Tanaka, Kazuo Satomi
We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28887075/role-of-cathepsin-k-in-the-development-of-chronic-subdural-hematoma
#11
Satoshi Tsutsumi, Ikuko Ogino, Masakazu Miyajima, Senshu Nonaka, Masanori Ito, Yukimasa Yasumoto, Hajime Arai
Despite extensive investigations, the process of development of chronic subdural hematoma (CSDH) is not known. The present study aims to investigate CSDH by measuring biomarkers in it, gas analysis, and immunohistochemical examination. A total of 42 patients with symptomatic CSDH who underwent burr-hole drainage were enrolled. Intraoperatively, hematoma fluid and peripheral venous blood (PVCSDH) were simultaneously collected. As controls, peripheral venous blood (PVControl) and intracranial cerebrospinal fluid (CSF) were collected from other subjects during other surgeries...
September 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28885062/out-of-hospital-cardiac-arrest-always-coronary-angiography
#12
Andrea Rognoni, Chiara Cavallino, Marco Giovanni Mennuni, Lucia Barbieri, Roberta Rosso, Francesco Rametta, Federico Nardi, Alessandro Lupi, Angelo Sante Bongo
Out-of-hospital cardiac arrest (OHCA) remains one of the principle challenges in the setting of critical care medicine and emergency cardiology. Areas covered: Long-term survival rates even after successful resuscitation are variable but increasing in the recent years; due to the improvement of base and advanced cardiac life support techniques an increasing number of resuscitated patients are admitted to the hospital. Recent data suggested that patients surviving to hospital discharge after OHCA presented long-term outcome similar to patients with ST-elevation myocardial infarction...
September 18, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28883258/mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas-due-to-a-m-10158t-c-nd3-mutation-with-a-normal-muscle-biopsy
#13
Masako Mukai, Eiichiro Nagata
No abstract text is available yet for this article.
September 6, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28883250/mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas-due-to-a-m-10158t-c-nd3-mutation-with-a-normal-muscle-biopsy
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
September 6, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28878349/peptide-mediated-delivery-of-donor-mitochondria-improves-mitochondrial-function-and-cell-viability-in-human-cybrid-cells-with-the-melas-a3243g-mutation
#15
Jui-Chih Chang, Fredrik Hoel, Ko-Hung Liu, Yau-Huei Wei, Fu-Chou Cheng, Shou-Jen Kuo, Karl Johan Tronstad, Chin-San Liu
The cell penetrating peptide, Pep-1, has been shown to facilitate cellular uptake of foreign mitochondria but further research is required to evaluate the use of Pep-1-mediated mitochondrial delivery (PMD) in treating mitochondrial defects. Presently, we sought to determine whether mitochondrial transplantation rescue mitochondrial function in a cybrid cell model of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) disease. Following PMD, recipient cells had internalized donor mitochondria after 1 h, and expressed higher levels of normal mitochondrial DNA, particularly at the end of the treatment and 11 days later...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28877132/parameters-for-ordering-blood-cultures-in-major-burn-injury-patients-improving-clinical-assessment
#16
James D Vargo, Jacob N Grow, Susan Yang, Abby Bernard, Niaman Nazir, Dhaval Bhavsar
Hypermetabolic and catabolic states in large TBSA burns lead to higher basal body temperature and tachycardia. These metabolic changes complicate the diagnosis of bacteremia and sepsis. Current indications for obtaining blood cultures (BCs) in this population are poorly described and nonstandardized. Fever, leukocytosis, and lactic acidosis are common during sepsis. This study aims to identify limits of these parameters with the highest rates of bacteremia. A retrospective review was performed for burn patients with > 20% TBSA between January 2009 and June 2011...
August 31, 2017: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/28870049/-clinical-effect-of-terminal-branches-portal-vein-embolization-combined-with-transcatheter-arterial-chemoembolization-on-liver-neoplasms
#17
S Y Peng, C Y Huang, X A Wang, Y F Wang, Y Y Zhang, J T Li, B Xu, X Liang, J W Wang, D F Hong, X J Cai
Objective: To analyze the efficacy of branches portal vein embolization (TBPVE) combined with transcatheter arterial chemoembolization (TACE) on liver neoplasms. Methods: From August 2016 to May 2017, there were 13 patients including 11 males and 2 females with primary hepatocellular carcinoma who underwent TBPVE+ TACE , among whom there were 11 cases with a history of HBV infection.Average age of the 13 patients was (60.8±6.2)years. The live function of all patients were Child-Pugh A classification.The CT or MRI images of each patient was reconstructed and the standard liver volume(SLV) before TBPVE+ TACE was (1 181...
September 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#18
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28868582/still-sour-about-lactic-acidosis-years-later-role-of-metformin-in-heart-failure
#19
REVIEW
William Kuan, Craig J Beavers, Maya E Guglin
Metformin remains a widely-used, first-line pharmacotherapy agent for patients with type 2 diabetes mellitus because of its efficacy, mild side effects, and affordability.However, use of this medication has traditionally been shunned by clinicians in patient populations that are considered at risk of lactic acidosis, such as those with heart failure. The underutilization of metformin can largely be attributed to the historical stigma of its biguanide predecessor, phenformin, and its association with lactic acidosis...
September 4, 2017: Heart Failure Reviews
https://www.readbyqxmd.com/read/28866978/peripheral-venoarterial-extracorporeal-membrane-oxygenation-for-severe-hyperlactataemia-after-cardiac-surgery-a-pilot-study
#20
Peter Biesenbach, Rashmi Ghanpur, Johan Mårtensson, Marco Crisman, Steven Lindstrom, Andrew Hilton, George Matalanis, Rinaldo Bellomo
BACKGROUND: Severe hyperlactataemia in patients after cardiac surgery is associated with poor prognosis and implies possible splanchnic hypoperfusion. Peripheral venoarterial extracorporeal membrane oxygenation (splanchnic ECMO) may be more effective at reducing lactic acidosis for these patients. OBJECTIVE: To investigate whether splanchnic ECMO attenuates hyperlactataemia and liver enzyme release in these patients, despite them having a cardiac index > 2 L/min/m(2) and a mixed venous oxygen saturation > 55%...
September 2017: Critical Care and Resuscitation: Journal of the Australasian Academy of Critical Care Medicine
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