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    1 OF 157

    Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
    Prenat Diagn 2017 Apr 18. Epub 2017 Apr 18.
    Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Department of Pediatrics, Université de Montréal.
    A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada for four recessive diseases with local founder effects (tyrosinemia type I, ARSACS, congenital lactic acidosis, and Andermann syndrome).

    Objectives: Describe the experience of carrier couples identified through this program.

    Methods: Semi-structured interviews were performed with carrier couples. Read More

    Metformin-associated lactic acidosis (MALA): moving towards a new paradigm.
    Diabetes Obes Metab 2017 Apr 17. Epub 2017 Apr 17.
    Association REMEDES, Ville-sur-Jarnioux, France.
    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. Read More

    Effects of dystocia on blood gas parameters, acid-base balance and serum lactate concentration in heavy draft newborn foals.
    J Equine Sci 2017 28;28(1):27-30. Epub 2017 Mar 28.
    Department of Applied Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Hokkaido 080-8555, Japan; United Graduate School of Veterinary Sciences, Gifu University, Gifu 501-1193, Japan; Research Center for Global Agromedicine, Obihiro University of Agriculture and Veterinary Medicine, Hokkaido 080-8555, Japan.
    Dystocia is often lethal for neonatal foals; however, its clinicopathological features remain largely unknown. We investigated the effect of dystocia on the foal blood profile. Venous blood samples were collected from 35 foals (5 Percheron and 30 crossbreds between Percheron, Belgian, and Breton heavy draft horses) at 0 hr, 1 hr, 12 hr and 1 day after birth. Read More

    Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy: A Case Report.
    A A Case Rep 2017 Apr 10. Epub 2017 Apr 10.
    From the *Department of Anesthesiology, University of Toronto; and †Department of Anesthesia and Pain Management, Mount Sinai Hospital, Toronto, Ontario, Canada.
    MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms) is a rare and complex mitochondrial disorder. We present the in-hospital course of a 36-year-old gravida 2, para 0 with MELAS syndrome and severe preeclampsia, complicated by hyponatremia, hyperkalemia, and diabetes. A retained placenta with postpartum hemorrhage required urgent instrumental delivery under spinal anesthesia, transfusion, and intensive care unit admission for pulmonary edema, effusions, and atelectasis. Read More

    Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
    JAMA Neurol 2017 Apr 10. Epub 2017 Apr 10.
    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
    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. Read More

    Inborn Errors of Fructose Metabolism. What Can We Learn from Them?
    Nutrients 2017 Apr 3;9(4). Epub 2017 Apr 3.
    Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital (CHUV), Beaumont-02/248, Lausanne CH-1011, Switzerland.
    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. Read More

    Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
    J Hum Genet 2017 Mar 30. Epub 2017 Mar 30.
    Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
    The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS). We report on two unrelated families, with two affected children each with early onset neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis and early demise. Exome sequencing of two affected individuals, one from each family, revealed a homozygous c. Read More

    Risk factors of post-operative severe hyperlactatemia and lactic acidosis following laparoscopic resection for pheochromocytoma.
    Sci Rep 2017 Mar 24;7(1):403. Epub 2017 Mar 24.
    Department of Anesthesiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, P.R. China.
    Severe hyperlactatemia (SH)/lactic acidosis (LA) after laparoscopic resection of pheochromocytoma is an infrequently reported complication. The study aims to investigate the incidence of this complication and to determine the clinical risk factors. Patients who underwent laparoscopic resection for pheochromocytoma between 2011 and 2014 at Peking Union Medical College Hospital were enrolled. Read More

    Refining metformin prescribing in New Zealand.
    N Z Med J 2017 Mar 24;130(1452):49-53. Epub 2017 Mar 24.
    Women's and Children's Health, University of Otago, Dunedin.
    Metformin is the mainstay of treatment of type 2 diabetes. However, there has been significant concern on prescribing metformin in patients with renal impairment as a result of metformin-associated lactic acidosis (MALA). Recent studies have cast doubt on the existence of MALA purely related to metformin use. Read More

    Normothermic ex-situ liver preservation: the new gold standard.
    Curr Opin Organ Transplant 2017 Mar 22. Epub 2017 Mar 22.
    aLiver Unit, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust bNational Institute for Health Research, Birmingham Liver Biomedical Research Unit and Centre for Liver Research, Institute of Immunology and Immunotherapy, Institute for Biomedical Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom cLiver and HPB Unit, Apollo Navi Mumbai Hospital, Mumbai, India.
    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. Read More

    [Accumulation of Metformin-associated Lactic Acidosis].
    Dtsch Med Wochenschr 2017 Mar 22;142(6):428-431. Epub 2017 Mar 22.
    Objective Lactic acidosis has been associated with the use of metformin since its introduction. The cause, however, is highly controversial. The incidence of metformin-associated lactic acidosis (MALA) is quoted at 3,0 to 16,7 cases per 100 000 patient-years according to current studies. Read More

    A non-fatal intoxication and seven deaths involving the dissociative drug 3-MeO-PCP.
    Forensic Sci Int 2017 Mar 7;275:76-82. Epub 2017 Mar 7.
    Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Medical and Health Sciences, Division of Drug Research, Linköping University, Linköping, Sweden.
    Introduction: 3-methoxyphencyclidine (3-MeO-PCP) appeared on the illicit drug market in 2011 and is an analogue of phencyclidine, which exhibits anesthetic, analgesic and hallucinogenic properties. In this paper, we report data from a non-fatal intoxication and seven deaths involving 3-MeO-PCP in Sweden during the period March 2014 until June 2016.

    Case Descriptions: The non-fatal intoxication case, a 19-year-old male with drug problems and a medical history of depression, was found awake but tachycardic, hypertensive, tachypnoeic and catatonic at home. Read More

    Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.
    Metab Brain Dis 2017 Mar 21. Epub 2017 Mar 21.
    Department of Neurology, First Affiliated Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, Liaoning, 110001, China.
    We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. Read More

    Lactic Acidosis: A Rare Oncological Emergency in Solid Tumors at Presentation.
    Am J Med Sci 2017 Apr 6;353(4):402-406. Epub 2016 May 6.
    Department of Hematology and Oncology, Lehigh Valley Health Network, John and Dorothy Morgan Cancer Center, Allentown, Pennsylvania.
    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. Read More

    Serum osmolal gap in clinical practice: usefulness and limitations.
    Postgrad Med 2017 Mar 23:1-4. Epub 2017 Mar 23.
    a Department of Internal Medicine, School of Medicine , University of Ioannina , Ioannina , Greece.
    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. Read More

    Severe Anaphylactic Reaction to Preoperative Aspiration Prophylaxis.
    J Coll Physicians Surg Pak 2017 03;27(3):S2-S3
    Deparment of Anaesthesia, The Aga Khan University Hospital, Karachi.
    It is a case of severe anaphylactic reaction in a young female who had received aspiration prophylaxis preoperatively. Patient required intensive care and developed severe lactic acidosis. She responded very well to fluid and phenylephrine boluses and later on norepinephrine infusion. Read More

    N-Acetylcysteine's Role in Sepsis and Potential Benefit in Patients With Microcirculatory Derangements.
    J Intensive Care Med 2017 Jan 1:885066617696850. Epub 2017 Jan 1.
    1 Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of Florida College of Medicine, Gainesville, FL, USA.
    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. Read More

    AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
    Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a001560
    Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
    Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. Read More

    Multiple myeloma associated with an Evan's syndrome.
    Pan Afr Med J 2016 1;25:127. Epub 2016 Nov 1.
    Department of Hematology, Farhat Hached Hospital, Sousse Tunisia.
    Auto-immun events are rare in multiple myeloma (MM). Here, we report one MM case complicated by Evans syndrome (Autoimmun hemolytic anemia (AIHA) associated with thrombocytopenia). A 52-year-old man was admitted in nephrology department with severe anemia, renal insufficiency and hypergamma globulinemia. Read More

    Effectiveness of isosorbide dinitrate in cyanide poisoning as a function of the administration timing.
    BMC Pharmacol Toxicol 2017 Mar 14;18(1):13. Epub 2017 Mar 14.
    Institute for Research in Military Medicine, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
    Background: Better and safer antidotes against cyanide poisoning are needed. Prior study has shown a favorable effect of isosorbide dinitrate (ISDN) on the survival of cyanide-poisoned rabbits when administered as early as 1 min after poisoning. The aim of the current study was to further evaluate the efficacy of intravenous ISDN administered in clinically relevant timing for first responders. Read More

    Kidney involvement in MELAS syndrome: Description of 2 cases.
    Med Clin (Barc) 2017 Apr 7;148(8):357-361. Epub 2017 Mar 7.
    Servei de Nefrologia i Trasplantament Renal, Hospital Clínic, Universidad de Barcelona, Barcelona, España. Electronic address:
    Introduction: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA(Leu) gene being the most frequent of them.

    Patients And Methods: Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). Read More

    Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
    Neuromuscul Disord 2017 Feb 14. Epub 2017 Feb 14.
    Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:
    We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). Read More

    UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.
    J Hum Genet 2017 Mar 9. Epub 2017 Mar 9.
    APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
    An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c. Read More

    Adverse effects of oral antiviral therapy in chronic hepatitis B.
    World J Hepatol 2017 Feb;9(5):227-241
    Bircan Kayaaslan, Rahmet Guner, Department of Infectious Disease and Clinical Microbiology, Yildirim Beyazit University Faculty of Medicine, Ataturk Education and Research Hospital, 06800 Ankara, Turkey.
    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. Read More

    Experimental assessment of oxygen homeostasis during acute hemodilution: the integrated role of hemoglobin concentration and blood pressure.
    Intensive Care Med Exp 2017 Dec 1;5(1):12. Epub 2017 Mar 1.
    Department of Anesthesia, St. Michael's Hospital, 30 Bond Street, Toronto, Ontario, M5B 1W8, Canada.
    Background: Low hemoglobin concentration (Hb) and low mean arterial blood pressure (MAP) impact outcomes in critically ill patients. We utilized an experimental model of "normotensive" vs. "hypotensive" acute hemodilutional anemia to test whether optimal tissue perfusion is dependent on both Hb and MAP during acute blood loss and fluid resuscitation, and to assess the value of direct measurements of the partial pressure of oxygen in tissue (PtO2). Read More

    Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    BMJ Case Rep 2017 Feb 27;2017. Epub 2017 Feb 27.
    Department of Neurology, Sligo University Hospital, Sligo, Ireland.
    A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. Read More

    Immediately Functioning Grafts from Brain-Dead Donors Treated with Extracorporeal Membrane Oxygenation.
    Exp Clin Transplant 2017 Feb 23. Epub 2017 Feb 23.
    From the Saudi Center for Organ Transplantation, Riyadh, Saudi Arabia.
    A brain-dead donor experienced repeated cardiac arrests followed by severe hypotension requiring multiple vasoactive agents. These events were associated with severe lactic acidosis and dysregulated kidney function in the donor. A 10-hour treatment with extracorporeal membranous oxygenation was instituted, which was able to hemodynamically stabilize the donor. Read More

    Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report.
    Neuroophthalmology 2017 Feb 23;41(1):30-34. Epub 2016 Sep 23.
    Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Department of Ophthalmology and Visual Sciences, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) can rarely cause alternate-sided homonymous hemianopia due to stroke-like episodes involving the occipital lobes, as reported in three previously published cases. The authors report an interesting case of a 16-year-old presenting with myoclonic epilepsy due to MELAS with the rare ND3 mitochondrial mutation T10191C, with recurrent alternate-sided homonymous hemianopia. Visual field and corresponding magnetic resonance imaging (MRI) findings are presented. Read More

    Treatment of Metformin Intoxication Complicated by Lactic Acidosis and Acute Kidney Injury: The Role of Prolonged Intermittent Hemodialysis.
    Am J Kidney Dis 2017 Feb 17. Epub 2017 Feb 17.
    Acute and Chronic Renal Failure Unit, Department of Clinical and Experimental Medicine, University of Parma, Parma, Italy.
    Metformin intoxication with lactic acidosis, a potentially lethal condition, may develop in diabetic patients when the drug dose is inappropriate and/or its clearance is reduced. Diagnosis and therapy may be delayed due to nonspecific symptoms at presentation, with severe anion gap metabolic acidosis and elevated serum creatinine values being the most prominent laboratory findings. Confirmation requires measurement of serum metformin by high-performance liquid chromatography-tandem mass spectrometry, but this technique is available only at specialized institutions and cannot be relied on as a guide to immediate treatment. Read More

    Lymphoma and Lactic Acidosis.
    Clin Nucl Med 2017 May;42(5):371-372
    From the Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, TN.
    A 39-year-old man presented with new onset of sinus congestion, shortness of breath, and diaphoresis. His laboratory tests were notable for hypercalcemia and lactic acidosis. A CT scan of the head demonstrated mild paranasal disease. Read More

    The Dramatic Recovery of a Patient with Biguanide-associated Severe Lactic Acidosis Following Thiamine Supplementation.
    Intern Med 2017 15;56(4):455-459. Epub 2017 Feb 15.
    Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan.
    Biguanides are a drug of choice for the treatment of type 2 diabetes mellitus. Although they can cause lactic acidosis in susceptible patients with predisposing risk factors, the incidence of lactic acidosis is reported to be very low when they are used properly. We herein present a case of biguanide-associated severe lactic acidosis complicated with thiamine deficiency that was provoked without predisposing factors for thiamine deficiency. Read More

    [MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes].
    Brain Nerve 2017 Feb;69(2):111-117
    Department of Neurology, Showa University School of Medicine.
    Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse. Read More

    Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
    Mol Genet Metab 2017 Apr 2;120(4):342-349. Epub 2017 Feb 2.
    Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    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. Read More

    Antiretroviral therapy related adverse effects: Can sub-Saharan Africa cope with the new "test and treat" policy of the World Health Organization?
    Infect Dis Poverty 2017 Feb 15;6(1):24. Epub 2017 Feb 15.
    Department of Epidemiology and Public Health, Centre Pasteur of Cameroon, Yaoundé, Cameroon.
    Background: Recent studies have shown that early antiretroviral therapy (ART) initiation results in significant HIV transmission reduction. This is the rationale behind the "test and treat" policy of the World Health Organization (WHO). Implementation of this policy will lead to an increased incidence of ART-related adverse effects, especially in sub-Saharan Africa (SSA). Read More

    Defects in RNA metabolism in mitochondrial disease.
    Int J Biochem Cell Biol 2017 Apr 9;85:106-113. Epub 2017 Feb 9.
    Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7 QQ Block, QEII Medical Centre, 6 Verdun Street, Nedlands, WA 6009, Australia; School of Molecular Sciences, The University of Western Australia, Nedlands, Western Australia 6009, Australia. Electronic address:
    The expression of mitochondrially-encoded genes requires the efficient processing of long precursor RNAs at the 5' and 3' ends of tRNAs, a process which, when disrupted, results in disease. Two such mutations reside within mt-tRNA(Leu(UUR)); a m.3243A>G transition, which is the most common cause of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and m. Read More

    Metformin-associated lactic acidosis treated with continuous renal replacement therapy.
    BMJ Case Rep 2017 Feb 10;2017. Epub 2017 Feb 10.
    Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.
    Metformin-associated lactic acidosis (MALA) is a rare but life-threatening complication. We report a case of MALA in a man aged 71 years who was treated with continuous renal replacement therapy (CRRT). The patient was brought to the hospital for prolonged and gradual worsening gastrointestinal symptoms. Read More

    Lactic Acidosis with Chloramphenicol Treatment in a Child with Cystic Fibrosis.
    J Popul Ther Clin Pharmacol 2017 Jan 30;24(1):40-45. Epub 2017 Jan 30.
    Department of Pediatrics, University of Montreal.
    Children with cystic fibrosis are commonly colonized with multi-resistant bacteria. In such patients, infectious exacerbation may require salvage therapy with uncommonly used antimicrobials, including chloramphenicol. Chloramphenicol is rarely used nowadays because of the associated severe adverse events. Read More

    [Hemorrhagic shock : General principles].
    Internist (Berl) 2017 Mar;58(3):207-217
    Klinik für Intensivmedizin, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland.
    Bleeding associated with hemorrhagic shock is often seen in emergency medical services or in the intensive care unit. Identifying the origin of the bleeding and additional disorders helps to determine the degree of the hemorrhagic shock. In order to be effective, the initial therapy until blood products are available needs to be differentiated to be effective in terms of hemodynamic stabilization and coagulation. Read More

    A 66-Year-Old Woman With Sudden Onset of Disseminated Intravascular Coagulation, Lactic Acidosis, and Hypoglycemia.
    Chest 2017 Feb;151(2):e41-e44
    Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, Department of Medicine, University of Minnesota, Minneapolis, MN.
    A 66-year-old woman presented to an urgent care clinic for 2 to 3 weeks of general malaise, nausea/vomiting, night sweats, and dyspnea. On examination, she was tachycardic, and her laboratory evaluation was normal except for a lactate level of 4.4 mmol/L and platelet count of 118 × 10(9)/L. Read More

    Hereditary myopathies with early respiratory insufficiency in adults.
    Muscle Nerve 2017 Feb 9. Epub 2017 Feb 9.
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
    Introduction: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults.

    Methods: We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Read More

    A Mechanism-Based Pharmacokinetic Enzyme Turnover Model for Dichloroacetic Acid Autoinhibition in Rats.
    J Pharm Sci 2017 May 3;106(5):1396-1404. Epub 2017 Feb 3.
    Division of Pharmaceutics and Translational Therapeutics, College of Pharmacy, University of Iowa, Iowa 52242. Electronic address:
    Dichloroacetic acid (DCA), a halogenated organic acid, is a pyruvate dehydrogenase kinase inhibitor that has been used to treat congenital or acquired lactic acidosis and is currently in early-phase clinical trials for cancer treatment. DCA was found to inhibit its own metabolism by irreversibly inactivating glutathione transferase zeta 1 (GSTZ1-1), resulting in nonlinear kinetics and abnormally high accumulation ratio after repeated dosing. In this analysis, a semi-mechanistic pharmacokinetic enzyme turnover model was developed for the first time to capture DCA autoinhibition, gastrointestinal region-dependent absorption, and time-dependent change in bioavailability in rats. Read More

    Factors Associated With Mortality in Continuous Renal Replacement Therapy for Pediatric Patients With Acute Kidney Injury.
    Pediatr Crit Care Med 2017 Feb;18(2):e56-e61
    All authors: Division of Pediatric Critical Care Medicine, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea.
    Objectives: To analyze the epidemiology of pediatric acute kidney injury requiring continuous renal replacement therapy and identify prognostic factors affecting mortality rates.

    Design: Retrospective analysis.

    Setting: PICU of a tertiary medical center. Read More

    Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
    Clin Genet 2017 Feb 2. Epub 2017 Feb 2.
    Centre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs», Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
    Background: 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.

    Materials And Methods: Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochondrial condition in 2 patients, presenting congenital cataracts, progressive encephalomyopathy and hypotrophy and detected unreported compound heterozygous variants in GFER. Read More

    Metformin-SGLT2, Dehydration, and Acidosis Potential.
    J Am Geriatr Soc 2017 Feb 2. Epub 2017 Feb 2.
    Kidney and Hypertension Section, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts.
    Clinicians are aware of the risks and benefits of metformin in type 2 diabetes. In geriatric populations lactic acidosis due to diminishing kidney function is an issue. The recent addition of a group of agents to control diabetes through increased glycosuria may increase the risk of dehydration and acidosis. Read More

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