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lactic acidosis

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https://www.readbyqxmd.com/read/28526011/risk-of-acute-kidney-injury-and-survival-in-patients-treated-with-metformin-an-observational-cohort-study
#1
Samira Bell, Bassam Farran, Stuart McGurnaghan, Rory J McCrimmon, Graham P Leese, John R Petrie, Paul McKeigue, Naveed Sattar, Sarah Wild, John McKnight, Robert Lindsay, Helen M Colhoun, Helen Looker
BACKGROUND: Whether metformin precipitates lactic acidosis in patients with chronic kidney disease (CKD) remains under debate. We examined whether metformin use was associated with an increased risk of acute kidney injury (AKI) as a proxy for lactic acidosis and whether survival among those with AKI varied by metformin exposure. METHODS: All individuals with type 2 diabetes and available prescribing data between 2004 and 2013 in Tayside, Scotland were included. The electronic health record for diabetes which includes issued prescriptions was linked to laboratory biochemistry, hospital admission, death register and Scottish Renal Registry data...
May 19, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#2
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#3
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
#4
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/28513118/metformin-does-not-induce-hyperlactatemia-in-patients-admitted-to-internal-medicine-ward
#5
Shlomit Koren, Shani Zilberman-Itskovich, Ronit Koren, Keren Doenyas-Barak, Ahuva Golik
BACKGROUND: Concerns about metformin-associated lactic acidosis (MALA) prohibit the use of metformin in a large subset of diabetic patients, mostly in patients with chronic kidney disease. Increasing evidence suggests that the current safety regulations may be overly restrictive. OBJECTIVES: To examine the association between chronic metformin treatment and lactate level in acute illness on the first day of admission to an internal medicine ward. METHODS: We compared diabetic and non-diabetic hospitalized patients treated or not treated with metformin in different sets of kidney function...
May 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28507572/transient-dilutional-acidosis-but-no-lactic-acidosis-upon-cardiopulmonary-bypass-in-patients-undergoing-coronary-artery-bypass-grafting
#6
Johanna Katharina Teloh, Daniel-Sebastian Dohle, Serhat Sönmez, Konstantinos Tsagakis, Rabea Verhaegh, Miriam Petersen, Heinz Jakob, Herbert de Groot
INTRODUCTION: Dilutional acidosis may result from the introduction of a large fluid volume into the patients' systemic circulation, resulting in a considerable dilution of endogenous bicarbonate in the presence of a constant carbon dioxide partial pressure. Its significance or even existence, however, has been strongly questioned. Blood gas samples of patients operated on with standard cardiopulmonary bypass (CPB) were analyzed in order to provide further evidence for the existence of dilutional acidosis...
April 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28499982/identification-of-fastkd2-compound-heterozygous-mutations-as-the-underlying-cause-of-autosomal-recessive-melas-like-syndrome
#7
Da Hye Yoo, Young-Chul Choi, Da Eun Nam, Sun Seong Choi, Ji Won Kim, Byung-Ok Choi, Ki Wha Chung
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.R205X and p.L255P in the FASTKD2. Each of his unaffected parents has one of the two mutations, and both mutations were not found in 302 controls...
May 9, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28493820/deoxyguanosine-kinase-deficiency-a-report-of-four-patients
#8
Özlem Ünal, Burcu Hişmi, Mustafa Kılıç, Hayriye Hızarcıoğlu Gülşen, Turgay Coşkun, Serap Hatice Sivri, Ali Dursun, Aysel Yüce, Ayşegül Tokatlı
BACKGROUND: Hepatic involvement is a common feature in childhood mitochondrial disorders. Deoxyguanosine kinase (DGUOK) deficiency is one of the mitochondrial DNA depletion syndromes associated with hepatocerebral syndrome. Hepatic disease and neurologic dysfunction occurs within weeks after birth. Low birth weight is one of the common features. This study aims to describe the clinical and laboratory features of four infants carrying four different pathogenic variants in the DGUOK gene...
May 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#9
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
#10
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/28474371/metformin-associated-lactic-acidosis-mala-moving-towards-a-new-paradigm
#11
EDITORIAL
Thomas A Bicsak, Brandon Walsh, Mark Fineman
The history of Metformin-Associated Lactic Acidosis (MALA) is rooted in the earlier experience with phenformin, another biguanide treatment for type 2 diabetes that was removed from the market owing to a clear causal association with cases of lactic acidosis (LA). Although metformin is less problematic in this regard, metformin can and does induce lactic acidosis, and under the right circumstances it continues to present a potential risk to patients. Recent liberalization of the prescribing guidelines in the US and EU specifically regarding use in more advanced stages of Chronic Kidney Disease (CKD) have led to renewed interest in the topic of MALA, and this issue of the Journal presents two timely articles on the topic by Lalau et al...
May 4, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28458318/familial-pernicious-chronic-intestinal-pseudo-obstruction-with-a-mitochondrial-dna-a3243g-mutation
#12
Junichiro Suzuki, Mai Iwata, Hideyuki Moriyoshi, Suguru Nishida, Takeshi Yasuda, Yasuhiro Ito
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28458255/sirt5-binds-to-cardiolipin-and-regulates-the-electron-transport-chain
#13
Yuxun Zhang, Sivakama S Bharathi, Matthew J Rardin, Jie Lu, Katherine V Maringer, Sunder Sims-Lucas, Edward V Prochownik, Bradford W Gibson, Eric S Goetzman
SIRT5 is a lysine desuccinylase known to regulate mitochondrial fatty acid oxidation and the urea cycle. Here, SIRT5 was observed to bind to cardiolipin via an amphipathic helix on its amino terminus. In vitro, succinyl-CoA was used to succinylate liver mitochondrial membrane proteins. SIRT5 largely reversed the succinyl-CoA-driven lysine succinylation. Quantitative mass spectrometry of SIRT5-treated membrane proteins pointed to the electron transport chain, particularly Complex I, as being highly targeted for desuccinylation by SIRT5...
April 30, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28453549/idiosyncratic-recognition-of-uug-uua-codons-by-modified-nucleoside-5-taurinomethyluridine-%C3%AF-m5u-present-at-wobble-position-in-anticodon-loop-of-trnaleu-a-molecular-modeling-approach
#14
Asmita S Kamble, Prayagraj M Fandilolu, Susmit B Sambhare, Kailas D Sonawane
Lack of naturally occurring modified nucleoside 5-taurinomethyluridine (τm5U) at the 'wobble' 34th position in tRNALeu causes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The τm5U34 specifically recognizes UUG and UUA codons. Structural consequences of τm5U34 to read cognate codons have not been studied so far in detail at the atomic level. Hence, 50ns multiple molecular dynamics (MD) simulations of various anticodon stem loop (ASL) models of tRNALeu in presence and absence of τm5U34 along with UUG and UUA codons were performed to explore the dynamic behaviour of τm5U34 during codon recognition process...
2017: PloS One
https://www.readbyqxmd.com/read/28444922/regulation-of-organelle-function-by-metformin
#15
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/28441439/hemodynamics-and-gas-exchange-during-chest-compressions-in-neonatal-resuscitation
#16
Payam Vali, Praveen Chandrasekharan, Munmun Rawat, Sylvia Gugino, Carmon Koenigsknecht, Justin Helman, Bobby Mathew, Sara Berkelhamer, Jayasree Nair, Myra Wyckoff, Satyan Lakshminrusimha
PURPOSE: Current knowledge about pulmonary/systemic hemodynamics and gas exchange during neonatal resuscitation in a model of transitioning fetal circulation with fetal shunts and fluid-filled alveoli is limited. Using a fetal lamb asphyxia model, we sought to determine whether hemodynamic or gas-exchange parameters predicted successful return of spontaneous circulation (ROSC). METHODS: The umbilical cord was occluded in 22 lambs to induce asphyxial cardiac arrest...
2017: PloS One
https://www.readbyqxmd.com/read/28439845/a-systematic-review-of-the-clinical-presentation-diagnosis-and-treatment-of-small-bowel-obstruction
#17
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
#18
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/28432751/acute-kidney-injury-plasma-lactate-concentrations-and-lactic-acidosis-in-metformin-users-a-godarts-study
#19
Paul J Connelly, Mike Lonergan, Enrique Soto-Pedre, Louise Donnelly, Kaixin Zhou, Ewan R Pearson
AIMS: Metformin is renally excreted and has been associated with the development of lactic acidosis. Although current advice is to omit metformin during illnesses that may increase risk of acute kidney injury (AKI), the evidence supporting this is lacking. We investigated the relationship between AKI, lactate concentrations and the risk of lactic acidosis in those exposed to metformin. METHODS: We undertook a population-based case-control study of lactic acidosis in 1,746 participants with Type 2 diabetes and 846 individuals without diabetes with clinically measured lactates with and without AKI between 1994-2014...
April 21, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28419508/experience-of-carrier-couples-identified-through-a-population-based-carrier-screening-pilot-program-for-four-founder-autosomal-recessive-diseases-in-saguenay-lac-saint-jean
#20
Jessica Tardif, Annabelle Pratte, Anne-Marie Laberge
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. Thematic analysis of interview transcripts was done to identify emerging themes...
April 18, 2017: Prenatal Diagnosis
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