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lactic acidosis review

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https://www.readbyqxmd.com/read/28439845/a-systematic-review-of-the-clinical-presentation-diagnosis-and-treatment-of-small-bowel-obstruction
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
March 22, 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28317631/lactic-acidosis-a-rare-oncological-emergency-in-solid-tumors-at-presentation
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27861334/lactic-acidosis-and-the-relationship-with-metformin-usage-case-reports
#15
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
#16
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/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#17
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...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27843091/cause-of-death-in-children-with-mitochondrial-diseases
#18
Soyong Eom, Ha Neul Lee, Sunho Lee, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Young-Mock Lee
BACKGROUND: We investigated the clinical characteristics that represent risk factors for death in pediatric patients with mitochondrial diseases. METHODS: The medical records of mitochondrial disease pediatric patients attended between 2006 and 2015 (n = 221) were reviewed for clinical characteristics, diagnosis, hospitalization, follow-up, survival, and cause of death. RESULTS: The global mortality rate in the cohort was 14% (average age at death, six years)...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27760420/risks-of-metformin-in-type-2-diabetes-and-chronic-kidney-disease-lessons-learned-from-taiwanese-data
#19
Connie M Rhee, Csaba P Kovesdy, Kamyar Kalantar-Zadeh
Like other biguanide agents, metformin is an anti-hyperglycemic agent with lower tendency towards hypoglycemia compared to other anti-diabetic drugs. Given its favorable effects on serum lipids, obese body habitus, cardiovascular disease, and mortality, metformin is recommended as the first-line pharmacologic agent for type 2 diabetes in the absence of contraindications. However, as metformin accumulation may lead to type B non-hypoxemic lactic acidosis, especially in the setting of kidney injury, chronic kidney disease, and overdose, regulatory agencies such as the United States Food and Drug Administration (FDA) have maintained certain restrictions regarding its use in kidney dysfunction...
2017: Nephron
https://www.readbyqxmd.com/read/27723911/d-lactic-acidosis-case-report-and-review-of-the%C3%A2-literature
#20
Elisabeth Fabian, Ludwig Kramer, Franz Siebert, Christoph Högenauer, Reinhard Bernd Raggam, Heimo Wenzl, Guenter J Krejs
D-lactic acidosis is a rare complication that occurs mainly in patients with malabsorption due to a surgically altered gastrointestinal tract anatomy, namely in short bowel syndrome or after bariatric surgery. It is characterized by rapid development of neurological symptoms and severe metabolic acidosis, often with a high serum anion gap. Malabsorbed carbohydrates can be fermented by colonic microbiota capable of producing D-lactic acid. Routine clinical assessment of serum lactate covers only L-lactic acid; when clinical suspicion for D-lactic acidosis is high, special assays for D-lactic acid are called for...
January 2017: Zeitschrift Für Gastroenterologie
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