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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
#1
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/27918679/movement-patterns-and-metabolic-responses-during-an-international-rugby-sevens-tournament
#2
Anthony Couderc, Claire Thomas, Mathieu Lacome, Julien Piscione, Julien Robineau, Rémi Delfour-Peyrethon, Rachel Borne, Christine Hanon
PURPOSE: This study investigated the running-demands and associated metabolic perturbations during an official rugby sevens tournament. METHODS: Twelve elite players participated in seven matches wearing Global Positioning System units. Maximal sprinting speed (MSS) and maximal aerobic speed (MAS) were measured. High-intensity threshold was individualized relative to MAS (>100% of MAS) and very high-intensity distance were reported relative to both MAS and MSS...
December 5, 2016: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/27917773/mutations-of-mtdna-polymerase-%C3%AE-and-hyperlactataemia-in-the-hiv-infected-zulu-population-of-south-africa
#3
D B A Ojwach, C Aldous, P Kochleff, B Sartorius
BACKGROUND: Mitochondrial toxicity, particularly symptomatic hyperlactataemia or lactic acidosis (SHL/LA), has been attributed to the use of nucleoside reverse transcriptase inhibitors (NRTIs), possibly because of their capacity to impede human mitochondrial DNA polymerase-γ (POLG), which is responsible for the replication of mitochondrial DNA. OBJECTIVE: To determine whether known monogenic POLG1 polymorphisms could be linked with the unexpectedly high incidence of SHL/LA observed in HIV-infected Zulu-speaking patients exposed to the NRTIs stavudine or zidovudine in their antiretroviral therapy...
December 1, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27914760/update-clinical-use-of-plasma-lactate
#4
REVIEW
Íde Gillespie, Patricia G Rosenstein, Dez Hughes
Lactate is an essential, versatile metabolic fuel in cellular bioenergetics. In human emergency and critical care, lactate is used as a biomarker and therapeutic endpoint and evidence is growing in veterinary medicine supporting its clinical utility. Lactate production is a protective response providing ongoing cellular energy during tissue hypoperfusion or hypoxia and mitigating acidosis. Hence, hyperlactatemia is closely associated with disease severity but it is an epiphenomenon as the body attempts to protect itself...
November 30, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#5
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27913012/hyperglycemic-high-anion-gap-metabolic-acidosis-in-patients-receiving-sglt-2-inhibitors-for-diabetes-management
#6
Juliette Sandifer Kum-Nji, Aidar R Gosmanov, Helmut Steinberg, Samuel Dagogo-Jack
Sodium-glucose cotransporter-2 inhibitors (SGLT-2i) are a class of antidiabetic medications that improve glycemic control via inhibiting the reabsorption of filtered glucose and are approved for use in type 2 diabetes (T2DM). These drugs have recently been associated with euglycemic diabetic ketoacidosis (DKA). An increasing number of cases of SGLT-2i-associated DKA have occurred in patients with T2DM. Herein, we describe five episodes of hyperglycemic DKA in four type 2 diabetes patients receiving SGLT-2i therapy...
November 9, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27908485/managing-fluid-and-electrolyte-disorders-in-kidney-disease
#7
REVIEW
Cathy Langston
Because of the role of the kidneys in maintaining homeostasis in the body, kidney disease leads to derangements of fluid, electrolyte, and acid-base balance. The most effective therapy of a uremic crisis is careful management of fluid balance, which involves thoughtful assessment of hydration, a fluid treatment plan personalized for the specific patient, and repeated and frequent reassessment of fluid and electrolyte balance. Disorders of sodium, chloride, potassium, calcium, and phosphorus are commonly encountered in kidney disease and some may be life-threatening...
November 28, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27906868/individual-clotting-factor-contributions-to-mortality-following-trauma
#8
Ryan C Kunitake, Benjamin M Howard, Lucy Z Kornblith, Sabrinah A Christie, Amanda S Conroy, Mitchell J Cohen, Rachael A Callcut
BACKGROUND: Acute traumatic coagulopathy (ATC) afflicts 20-30% of trauma patients, but the extensive collinearity of the coagulation cascade complicates attempts to clarify global clotting factor dysfunction. This study aims to characterize phenotypes of clotting factor dysfunction and their contributions to mortality after major trauma. METHODS: This prospective cohort study examines all adult trauma patients of the highest activation level presenting to San Francisco General Hospital between 2/2005 and 2/2015...
November 30, 2016: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/27906196/population-based-reference-curve-for-umbilical-cord-arterial-ph-in-infants-born-at-28-to-42-weeks
#9
B Skiöld, G Petersson, M Ahlberg, O Stephansson, S Johansson
OBJECTIVE: The objective of the study was to examine normal variations of umbilical cord arterial pH by gestational age (GA). STUDY DESIGN: Population-based cohort study of 46 199 infants born from 2008 to 2014 in Stockholm, Sweden, with GA 28 to 42 weeks, Apgar score ⩾7 at 5 min, non-instrumental vaginal delivery, and birth weight for GA⩾3rd and ⩽97th percentile. Quantile regression was used to investigate the associations between GA and infant sex, and pH...
December 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27905657/-toxic-encephalopathy-caused-by-liquefied-gas-exposure-report-of-one-case
#10
Luis Cartier R, Andrés Gallardo V
Liquefied hydrocarbon gas, such as propane is considered safe. However there are reports that voluntary exposure to liquefied gas at least could originate hallucinatory states. We report a 20 years old woman who was found in a coma with extensor muscle hypertonia, brisk tendon reflexes and extensor plantar (Babinski) responses after being exposed to propane gas. The brain magnetic resonance imaging (MRI) showed lesions in both hippocampi and white matter in the oval center. The patient had a normal oxygen saturation of 98%, a carboxyhemoglobin of 1...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27905308/a-case-of-extreme-hypokalaemia
#11
L M Ten Bos, T C Veenstra, B D Westerhof, F H Bosch
Hypokalaemia is a common clinical problem. It can lead to severe disturbances in cardiac, neurological and muscle function. We present the case of a 45-year-old woman who was transported to our hospital with cardiac arrest following ventricular fibrillation. Blood sampling revealed severe acidosis (pH 7.02) and extreme hypokalaemia (0.9 mmol/l). The low serum potassium level was most likely caused by the combination of a very deficient diet and use of a thiazide diuretic. She never reported any symptoms. An acute intracellular shift of potassium due to epinephrine and perhaps also the cathecholamines in Red Bull may have further decreased the serum potassium concentration...
November 2016: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/27905109/a-lethal-neonatal-phenotype-of-mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency
#12
F Al Mutairi, H E Shamseldin, M Alfadhel, R J Rodenburg, F S Alkuraya
Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine. Deficiency of this enzyme was recently shown to cause an early childhood Leigh syndrome phenotype. The few reported patients were compound heterozygotes for two missense or missense with truncating variants in ECHS1 that encodes SCEH. We describe two siblings with severe refractory lactic acidosis and death within the first 2 days of life...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27904825/can-acetazolamide-be-used-to-treat-diseases-involving-increased-bone-mineral-density
#13
Juan David González-Rodríguez, María Isabel Luis-Yanes, Esther Inglés-Torres, Pedro Arango-Sancho, José Eugenio Cabrera-Sevilla, María Rosario Duque-Fernández, Salvador Gil-Sánchez, Víctor Manuel García-Nieto
Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904044/investigation-of-risk-factors-affecting-lactate-levels-in-japanese-patients-treated-with-metformin
#14
Shota Yokoyama, Hideyuki Tsuji, Sachiko Hiraoka, Masayuki Nishihara
Metformin is a biguanaide antidiabetic drug used worldwide, and its effectiveness and benefits have already been established. However, the safety of high doses of metformin in Japanese patients, especially in elderly patients with a decreased renal function, remains unclear. Among the side effects of metformin, lactate acidosis is the most problematic due to a high mortality rate. Therefore, we assessed plasma lactate levels in metformin-treated patients to identify independent risk factors for hyperlactemia...
2016: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27903998/survival-benefit-of-hemodiafiltration-compared-with-prolonged-high-flux-hemodialysis
#15
Petar S Djuric, Aleksandar Jankovic, Jovan Popovic, Jelena Tosic Dragovic, Ana Bulatovic, Zivka Djuric, Milos Mitrovic, Nada Dimkovic
INTRODUCTION:  Patients on dialysis have a high rate of death, mainly of cardiovascular cause. Nephrologists are actively looking for ways to improve patients' outcomes, and alternative dialysis strategies, such as long conventional hemodialysis and hemodiafiltration, are currently being investigated. The aim of this study was to compare anemia, nutrition, inflammation, mineral metabolism, and 3-year survival rates between patients treated with hemodiafiltration and prolonged high-flux hemodialysis (HFH)...
November 2016: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/27903026/-severe-hypercapnic-respiratory-failure-in-acute-exacerbation-of-copd-significance-of-ventilation-and-extracorporal-co2-removal
#16
Michael Westhoff, Martin Bachmann, Stephan Braune, Christian Karagiannidis, Stefan Kluge, Philipp M Lepper, Thomas Müller, Bernd Schönhofer
In acute exacerbations of COPD with acute hypercapnic respiratory failure and a pH 7.25 - 7.35, the initiation of non-invasive ventilation is the gold standard. However, absolute and relative contraindications have to be taken into account. The implementation of non-invasive ventilation in case of a severe respiratory acidosis necessitates a skilled therapeutic team and a close monitoring in order to avoid or perceive a NIV failure in time. In this case, the intubation and invasive mechanical ventilation is recommended...
November 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27902848/topiramate-in-migraine-prevention-a-2016-perspective
#17
Stephen D Silberstein
BACKGROUND: In evidence-based guidelines published in 2000, topiramate was a third-tier migraine preventive with no scientific evidence of efficacy; recommendation for its use reflected consensus opinion and clinical experience. Its neurostabilizing activity, coupled with its favorable weight profile, made topiramate an attractive alternative to other migraine preventives that caused weight gain. When guidelines for migraine prevention in episodic migraine were published in 2012, topiramate was included as a first-line option based on double-blind, randomized controlled trials involving nearly 3000 patients...
November 30, 2016: Headache
https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#18
Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi
A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed very strong serological evidence in favor of systemic lupus erythematosus (SLE). Histopathological confirmation could not be done due to bilateral severely contracted kidneys. There are a few case reports of dRTA as the presentation of SLE, but nephrocalcinosis with dRTA with subsequent manifestation of SLE has hitherto not been reported in literature...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27900717/intravenous-fluids-balancing-solutions
#19
REVIEW
Ewout J Hoorn
The topic of intravenous (IV) fluids may be regarded as "reverse nephrology", because nephrologists usually treat to remove fluids rather than to infuse them. However, because nephrology is deeply rooted in fluid, electrolyte, and acid-base balance, IV fluids belong in the realm of our specialty. The field of IV fluid therapy is in motion due to the increasing use of balanced crystalloids, partly fueled by the advent of new solutions. This review aims to capture these recent developments by critically evaluating the current evidence base...
November 29, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27899309/repeated-misdiagnosis-of-a-relapsed-atypical-anti-nmda-receptor-encephalitis-without-an-associated-ovarian-teratoma
#20
Weihe Zhang, Li Yan, Jinsong Jiao
We present an atypical case of relapsed anti-NMDAR encephalitis in a young female patient without an associated ovarian teratoma. She presented with recurrent seizure attacks with muscle weakness, psychosis, dyskinesia, autonomic failure and insomnia. She was first misdiagnosed as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) then Hashimoto's encephalopathy due to diffuse cerebral lesions, elevated serum lactic acid concentration, increased amount of thyroid peroxidase and thyroglobulin antibodies in serum and diffuse lesions of the thyroid gland...
November 26, 2016: Neuroscience Letters
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