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lactic acidosis review

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https://www.readbyqxmd.com/read/28538105/linezolid-induced-lactic-acidosis-the-thin-line-between-bacterial-and-mitochondrial-ribosomes
#1
Alessandro Santini, Dario Ronchi, Manuela Garbellini, Daniela Piga, Alessandro Protti
Introduction - Linezolid inhibits bacterial growth by targeting bacterial ribosomes and by interfering with bacterial protein synthesis. Lactic acidosis is a rare, but potentially lethal, side effect of linezolid. Areas covered - The pathogenesis of linezolid-induced lactic acidosis is reviewed with special emphasis on aspects relevant to the recognition, prevention and treatment of the syndrome. Expert opinion - Linezolid-induced lactic acidosis reflects the untoward interaction between the drug and mitochondrial ribosomes...
May 24, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#2
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515163/assessment-of-nitric-oxide-production-in-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-syndrome-with-the-use-of-a-stable-isotope-tracer-infusion-technique
#3
REVIEW
Ayman W El-Hattab, Farook Jahoor
Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient energy to meet the needs of various organs. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. There is growing evidence that nitric oxide (NO) deficiency occurs in MELAS syndrome and results in impaired blood perfusion that contributes significantly to several complications in this disease. NO is synthesized from arginine by NO synthase, which catalyzes the conversion of arginine to NO and citrulline...
May 17, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#4
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28476522/preliminary-study-of-neurodevelopmental-outcomes-and-parenting-stress-in-pediatric-mitochondrial-disease
#5
Soyong Eom, Young-Mock Lee
BACKGROUND: Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to delineate neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the preliminary investigation of adequate intervention methods, better prognoses, and improved QOL for both patients and parents. METHODS: Seventy children diagnosed with mitochondrial diseases were neuropsychologically evaluated...
February 2, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28444922/regulation-of-organelle-function-by-metformin
#6
REVIEW
Jeongho Kim, Young-Jai You
Metformin ameliorates hyperglycemia without the side effects of lactic acidosis or hypoglycemia. Metformin lowers the blood glucose level by decreasing hepatic glucose production in the liver and by increasing glucose uptake in the muscle. Recent studies show that metformin induces cell death in certain cancer cell lines by interfering with the metabolism of the cancer cells. Therefore, understanding the mechanisms of action for metformin will provide insights into how to better treat diabetes and other metabolic disorders and also into the development of new therapeutic drugs...
April 26, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28439845/a-systematic-review-of-the-clinical-presentation-diagnosis-and-treatment-of-small-bowel-obstruction
#7
REVIEW
Srinivas R Rami Reddy, Mitchell S Cappell
PURPOSE OF REVIEW: This study aimed to systematically review small bowel obstruction (SBO), focusing on recent changes in diagnosis/therapy. RECENT FINDINGS: SBO incidence is about 350,000/annum in the USA. Etiologies include adhesions (65%), hernias (10%), neoplasms (5%), Crohn's disease (5%), and other (15%). Bowel dilatation occurs proximal to obstruction primarily from swallowed air and secondarily from intraluminal fluid accumulation. Dilatation increases mural tension, decreases mucosal perfusion, causes bacterial proliferation, and decreases mural tensile strength that increases bowel perforation risks...
June 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28432843/vitamin-b1-in-critically-ill-patients-needs-and-challenges
#8
REVIEW
Jake T B Collie, Ronda F Greaves, Oliver A H Jones, Que Lam, Glenn M Eastwood, Rinaldo Bellomo
BACKGROUND: Thiamine has a crucial role in energy production, and consequently thiamine deficiency (TD) has been associated with cardiac failure, neurological disorders, oxidative stress (lactic acidosis and sepsis) and refeeding syndrome (RFS). This review aims to explore analytical methodologies of thiamine compound quantification and highlight similarities, variances and limitations of current techniques and how they may be relevant to patients. CONTENT: An electronic search of Medline, PubMed and Embase databases for original articles published in peer-reviewed journals was conducted...
April 22, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28417525/metformin-associated-lactic-acidosis-mala-moving-towards-a-new-paradigm
#9
REVIEW
Jean-Daniel Lalau, Farshad Kajbaf, Alessandro Protti, Mette Marie Christensen, Marc-Etienne De Broe, Nicolas Wiernsperger
Although metformin has been used for over 60 years, the balance between the drug's beneficial and adverse effects is still subject to debate. Following an analysis of how cases of so-called "metformin-associated lactic acidosis" (MALA) are reported in the literature, the present article reviews the pitfalls to be avoided when assessing the purported association between metformin and lactic acidosis. By starting from pathophysiological considerations, we propose a new paradigm for lactic acidosis in metformin-treated patients...
April 17, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28395030/clinical-features-molecular-heterogeneity-and-prognostic-implications-in-yars2-related-mitochondrial-myopathy
#10
Ewen W Sommerville, Yi Shiau Ng, Charlotte L Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L Chin, Andrew M Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A Bindoff, John M Rawles, John C S Dean, Richard K Petty, Maria E Farrugia, Tobias B Haack, Holger Prokisch, Robert McFarland, Douglass M Turnbull, Claudia Donnini, Robert W Taylor, Gráinne S Gorman
Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature...
April 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28368361/inborn-errors-of-fructose-metabolism-what-can-we-learn-from-them
#11
REVIEW
Christel Tran
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign fructosuria due to fructokinase deficiency; (2) hereditary fructose intolerance; and (3) fructose-1,6-bisphosphatase deficiency...
April 3, 2017: Nutrients
https://www.readbyqxmd.com/read/28333889/normothermic-ex-situ-liver-preservation-the-new-gold-standard
#12
Richard W Laing, Hynek Mergental, Darius F Mirza
PURPOSE OF REVIEW: Normothermic machine perfusion of the liver (NMP-L) is a novel technology recently introduced into the practice of liver transplantation. This review recapitulates benefits of normothermic perfusion over conventional static cold storage and summarizes recent publications in this area. RECENT FINDINGS: The first clinical trials have demonstrated both safety and feasibility of NMP-L. They have shown that machine perfusion can entirely replace cold storage or be commenced following a period of cold ischaemia...
June 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28317631/lactic-acidosis-a-rare-oncological-emergency-in-solid-tumors-at-presentation
#13
REVIEW
Ranjit Nair, Usman Shah
Lactic acidosis is a potentially life-threatening complication characterized by accumulation of blood lactate resulting in low arterial pH. The majority of lactic acidosis in malignancies are reported in association with hematologic malignancies. It may result from an imbalance between lactate production and hepatic lactate utilization, but the exact pathophysiology is far more complex than what we can fathom from current micromolecular studies. We report a case of a 71-year-old male with metastatic lung cancer presenting with fatal lactic acidosis in the absence of liver involvement...
April 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28306366/serum-osmolal-gap-in-clinical-practice-usefulness-and-limitations
#14
George Liamis, Theodosios D Filippatos, Angelos Liontos, Moses S Elisaf
BACKGROUND: Although serum osmolal gap can be a useful diagnostic tool, clinicians are not familiar with its use in clinical practice. OBJECTIVES: The review presents in a series of questions-answers and under a clinical point of view the current data regarding the use of osmolal gap. DISCUSSION: The definition and the best formula used for the calculation of osmolal gap, the main causes of increased osmolal gap with or without increased anion gap metabolic acidosis, as well as the role of concurrent lactic acidosis or ketoacidosis are presented under a clinical point of view...
March 23, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28299952/n-acetylcysteine-s-role-in-sepsis-and-potential-benefit-in-patients-with-microcirculatory-derangements
#15
Jason Chertoff
OBJECTIVE: To review the data surrounding the utility of N-acetylcysteine (NAC) in sepsis and identify areas needed for additional research. DATA SOURCES: A review of articles describing the mechanisms of action and clinical use of NAC in sepsis. SUMMARY OF REVIEW: Despite many advances in critical care medicine, still as many as 50% of patients with septic shock die. Treatments thus far have focused on resuscitation and restoration of macrocirculatory targets in the early phases of sepsis, with less focus on microcirculatory dysfunction...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28261380/adverse-effects-of-oral-antiviral-therapy-in-chronic-hepatitis-b
#16
REVIEW
Bircan Kayaaslan, Rahmet Guner
Oral nucleoside/nucleotide analogues (NAs) are currently the backbone of chronic hepatitis B (CHB) infection treatment. They are generally well-tolerated by patients and safe to use. To date, a significant number of patients have been treated with NAs. Safety data has accumulated over the years. The aim of this article is to review and update the adverse effects of oral NAs. NAs can cause class adverse effects (i.e., myopathy, neuropathy, lactic acidosis) and dissimilar adverse effects. All NAs carry a "Black Box" warning because of the potential risk for mitochondrial dysfunction...
February 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28202214/lethal-neonatal-case-and-review-of-primary-short-chain-enoyl-coa-hydratase-sceh-deficiency-associated-with-secondary-lymphocyte-pyruvate-dehydrogenase-complex-pdc-deficiency
#17
Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Rhona M Jack, Alexander Miron, George Grahame, Suzanne D DeBrosse, Charles L Hoppel, Douglas S Kerr, Ronald J A Wanders
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A identified by whole exome sequencing of proband and parents. SCEH deficiency was confirmed with very low SCEH activity in fibroblasts and nearly absent immunoreactivity of SCEH. The patient had a severe neonatal course with elevated blood and cerebrospinal fluid lactate and pyruvate concentrations, high plasma alanine and slightly low plasma cystine...
April 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#18
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
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
#19
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/27920873/migratory-stroke-like-lesions-in-a-case-of-adult-onset-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas-syndrome-and-a-review-of-imaging-findings
#20
Stephen S Cai, Rainer von Coelln, Theresa J Kouo
Imaging findings of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is poorly documented. The authors present a 48-year-old woman with subacute onset of word-finding difficulties and right arm stiffness. Magnetic resonance imaging performed 2 weeks prior revealed left temporal lobe diffusion and fluid-attenuated inversion recovery hyperintensity predominantly involving the cortex. The apparent diffusion coefficient map showed preserved signal in the temporal cortex...
December 2016: Radiology case reports
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