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https://www.readbyqxmd.com/read/29228836/complete-mtdna-sequencing-reveals-mutations-m-9185t-c-and-m-13513g-a-in-three-patients-with-leigh-syndrome
#1
Dita Pelnena, Birute Burnyte, Eriks Jankevics, Baiba Lace, Evelina Dagyte, Kristina Grigalioniene, Algirdas Utkus, Zita Krumina, Jolanta Rozentale, Irina Adomaitiene, Janis Stavusis, Liana Pliss, Inna Inashkina
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included...
December 12, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29225865/hypoglycemia-and-severe-lactic-acidosis-in-a-dog-following-metformin-exposure
#2
Nicole Barrella, Beth Eisenberg, Stephanie Nicole Simpson
Hypoglycemia and lactic acidosis are rare complications with metformin use in humans. As metformin is not commonly used in veterinary medicine, severe adverse effects secondary to exposure are not known. Awareness of potentially life-threatening complications with metformin exposure is an important addition to the veterinary literature.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29222713/comparative-analysis-of-lactic-acidosis-induced-by-linezolid-and-vancomycin-therapy-using-cohort-and-case-control-studies-of-incidence-and-associated-risk-factors
#3
Nobuaki Mori, Yoshio Kamimura, Yuki Kimura, Shoko Hirose, Yasuko Aoki, Seiji Bito
PURPOSE: Lactic acidosis is a rare complication of linezolid (LZD) therapy, and its incidence and risk factors remain unknown. This study aimed to compare the incidence of LZD-associated lactic acidosis (LALA) and vancomycin (VAN)-associated lactic acidosis (VALA) and investigate the risk factors for LALA. METHODS: We performed a retrospective cohort study using propensity score-matched analyses comparing the incidence of lactic acidosis between LZD and VAN therapy...
December 8, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29218437/d-lactic-acidosis-in-humans-systematic-literature-review
#4
Davide G A M Bianchetti, Giacomo S Amelio, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Carlo Agostoni, Emilio F Fossali, Gregorio P Milani
BACKGROUND: D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. METHODS: We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome...
December 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29217198/clinical-molecular-and-computational-analysis-in-two-cases-with-mitochondrial-encephalomyopathy-associated-with-suclg1-mutation-in-a-consanguineous-family
#5
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Boudour Khabou, Mouna Tabbebi, Rahma Felhi, Marwa Ammar, Emna Mkaouar-Rebai, Leila Keskes, Lamia Boughamoura, Faiza Fakhfakh
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c...
December 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29198069/does-metformin-exposure-before-icu-stay-have-any-impact-on-patients-outcome-a-retrospective-cohort-study-of-diabetic-patients
#6
Sebastien Jochmans, Jean-Emmanuel Alphonsine, Jonathan Chelly, Ly Van Phach Vong, Oumar Sy, Nathalie Rolin, Olivier Ellrodt, Mehran Monchi, Christophe Vinsonneau
BACKGROUND: Impact of metformin exposure before ICU stay remains controversial. Metformin is thought to induce lactic acidosis and haemodynamic instability but may reduce ICU mortality. We evaluated its influence on outcome in diabetic patients admitted in the ICU and then compared two different populations based on the presence of septic shock. METHODS: We conducted a retrospective cohort study in a 24-bed French ICU between October 2010 and December 2013, including all ICU-admitted diabetic patients...
December 2, 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/29197835/kombucha-is-a-cup-of-tea-good-for-you
#7
Ailsa Holbourn, Judith Hurdman
A 54-year-old asthmatic woman presented to hospital with a 10-day history of breathlessness. On examination, she was tachypnoeic with mild wheeze. She had preserved peak flows and was saturating at 100% on room air. Investigations revealed severe metabolic lactic acidosis. On further questioning, it transpired that she drank kombucha tea, which has been linked to lactic acidosis. She made a full recovery with supportive management and cessation of the tea.
December 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29190634/focal-segmental-glomerulosclerosis-associated-with-chronic-progressive-external-ophthalmoplegia-and-mitochondrial-dna-a3243g-mutation
#8
Kaori Narumi, Eikan Mishima, Yukako Akiyama, Tetsuro Matsuhashi, Takashi Nakamichi, Kiyomi Kisu, Shuhei Nishiyama, Hajime Ikenouchi, Akio Kikuchi, Rumiko Izumi, Mariko Miyazaki, Takaaki Abe, Hiroshi Sato, Sadayoshi Ito
Focal segmental glomerulosclerosis (FSGS) is caused by various etiologies, with mitochondrial dysfunction being one of the causes. FSGS is known to be associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is a subclass of mitochondrial disease. However, it has rarely been reported in other mitochondrial disease subclasses. Here, we reported a 20-year-old man diagnosed with FSGS associated with chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) 3243A>G mutation...
November 30, 2017: Nephron
https://www.readbyqxmd.com/read/29189867/-metformin-associated-lactic-acidosis-report-of-one-case
#9
Felipe Quintana, María José Pezzani, Rodrigo Orozco, Jorge Dreyse, Leonardo Soto, Tomás Regueira
Metformin-associated lactic acidosis is a severe and infrequent adverse event. Early diagnosis is essential to start an early treatment, which often has favorable results. We report a 56 years old non-insulin-requiring type 2 diabetic female who developed a severe metabolic acidosis associated with metformin in relation to an acute renal failure secondary to infectious diarrhea. Early treatment with bicarbonate and continuous hemofiltration allowed a quick improvement of the patient. Metformin-associated lactic acidosis has an elevated mortality (50-80%) and has a specific and effective treatment...
August 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29188542/wet-beriberi-associated-with-hikikomori-syndrome
#10
Natsumi Tanabe, Eiji Hiraoka, Jun Kataoka, Takaki Naito, Ko Matsumoto, Junya Arai, Yasuhiro Norisue
Wet beriberi, characterized by high cardiac output with predominantly right-sided heart failure and lactic acidosis, is a disease caused by thiamine deficiency, and is rarely seen in modern society. However, patients with social withdrawal syndrome, also known as hikikomori syndrome, may be a new population at risk of thiamine deficiency. Hikikomori syndrome, first recognized in Japan, is becoming a worldwide issue. A 39-year-old Japanese patient was brought to our hospital, with a 3-week history of progressive shortness of breath and generalized edema...
November 29, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/29184292/cardiopulmonary-rehabilitation-program-impact-on-prognostic-markers-in-selected-patients-with-resting-and-exercise-induced-ventilatory-inefficiency-a-clinical-trial
#11
Sherin Hassan M Mehani, Heba Ahmed A Abdeen
[Purpose] Ventilatory limitation is a common problem in patients with chronic heart failure and pulmonary hypertension. Excess ventilation may arise from augmented ventilatory drive, over activity of chemoreceptors and muscle ergoreceptors, or premature onset of lactic acidosis. Exertional dyspnea can cause limitations in the activities of daily living and as a result, reduced quality of life for these patients. The aim of the present study was to evaluate the effect of cardiopulmonary rehabilitation program on ventilatory efficiency for these patients...
October 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29179767/rhabdomyolysis-lactic-acidosis-and-multiple-organ-failure-during-telbivudine-treatment-for-hepatitis-b-a-case-report-and-review-of-the-literature
#12
Jinxin Zheng, Minggui Deng, Xiaoliang Qiu, Zhong Chen, Duoyun Li, Xiangbin Deng, Qiwen Deng, Zhijian Yu
BACKGROUND: Telbivudine can cause severe side effects, including myositis, neuritis, rhabdomyolysis, and lactic acidosis. However, reported cases of telbivudine leading to multiple organ failure are rare. Here, we report a case of telbivudine-induced severe polymyositis, lactic acidosis, and multiple organ failure. CASE PRESENTATION: A 30-year-old Chinese man with hepatitis B virus infection received antiviral treatment with 600 mg of telbivudine daily for more than 11 months...
November 27, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29179680/stercoral-colitis-complicated-with-ischemic-colitis-a-double-edge-sword
#13
Maliha Naseer, Jenil Gandhi, Noor Chams, Zain Kulairi
BACKGROUND: Stercoral colitis is a rare inflammatory process involving the colonic wall secondary to fecal impaction with high morbidity and mortality; especially if complicated with ischemic colitis, stercoral ulcer formation and subsequent perforation. There are several case reports published on abdominal perforation resulting from stercoral colitis. However, stercoral colitis complicated by ischemic colitis is rare. The purpose of this case report is to describe the potential challenges in the diagnosis and management of stercoral colitis with ischemic colitis...
November 28, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/29165910/retrospective-evaluation-of-the-prognostic-utility-of-plasma-lactate-concentration-base-deficit-ph-and-anion-gap-in-canine-and-feline-emergency-patients
#14
Casey J Kohen, Kate Hopper, Philip H Kass, Steven E Epstein
OBJECTIVE: To determine the association of plasma lactate concentration, pH, base deficit (BD), and anion gap (AG) in dogs and cats on presentation to an emergency room with outcome, and to compare the prognostic significance of hyperlactatemia with a concurrent metabolic acidosis with that of hyperlactatemia and a normal metabolic acid-base balance. DESIGN: Retrospective study. SETTING: University teaching hospital. ANIMALS: Five hundred sixty-six dogs and 185 cats that had venous blood gas analysis performed...
November 22, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/29158884/a-mitochondrial-disorder-in-a-middle-age-iranian-patient-report-of-a-rare-case
#15
Mostafa Almasi, Mohammad Reza Motamed, Masoud Mehrpour, Bahram Haghi-Ashtiani, Fahimeh Haji Akhondi, Yalda Nilipour, Seyed-Mohammad Fereshtehnejad
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by Wernicke aphasia and, then, right hemiparesis. Investigations showed elevated arterial lactate and ragged red fibers on muscle biopsy...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29157755/-acetaminophen-induced-5-oxoproline-acidosis-an-uncommon-case-of-high-anion-gap-metabolic-acidosis
#16
A Lanot, P Henri, M Nowoczyn, M H Read, C Maucorps, M Sassier, T Lobbedez
The most common causes of high anion gap metabolic acidosis (HAGMA) are lactic acidosis, ketoacidosis, and intoxications. Nevertheless, clinicians can be faced with unexplained HAGMA, with a need to look for less common etiologies. We describe a case of 5-oxoproline (pyroglutamate) acidosis due to chronic acetaminophen ingestion at therapeutic dose in a 79-year-old inpatient. The pathophysiology of this condition is detailed, with abnormalities in the gamma-glutamyl cycle due to acetaminophen ingestion and severe chronic morbidities, resulting in glutathione and cysteine deficiency and then accumulation of 5-oxoproline...
November 17, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29151541/gastro-intestinal-involvement-in-m-3243a-g-associated-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes
#17
Junichiro Suzuki, Mai Iwata, Hideyuki Moriyoshi, Suguru Nishida, Takeshi Yasuda, Yasuhiro Ito
No abstract text is available yet for this article.
November 20, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29149019/incidence-and-consequences-of-near-drowning-related-pneumonia-a-descriptive-series-from-martinique-french-west-indies
#18
Laura Cerland, Bruno Mégarbane, Hatem Kallel, Yanick Brouste, Hossein Mehdaoui, Dabor Resiere
Drowning represents one major cause of accidental death. Near-drowning patients are exposed to aspiration that may result in pneumonia with life-threatening consequences. We designed this descriptive study to investigate the frequency, nature, and consequences of post-drowning pneumonia. One hundred and forty-four near-drowning patients (33 children and 111 adults) admitted during four years to the University Hospital of Martinique, French Indies, were included. Patients presented pre-hospital cardiac arrest (41%) and exhibited acute respiratory failure (54%), cardiovascular failure (27%), and lactic acidosis (75%) on admission...
November 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29148290/single-centre-experience-with-the-impella-cp-5-0-and-rp-in-109-consecutive-patients-with-profound-cardiogenic-shock
#19
Peter Blom Jensen, Sigrun Høegholm Kann, Karsten Tange Veien, Ole Kristian Møller-Helgestad, Jordi Sanchez Dahl, Charlotte Svejstrup Rud, Marianne Kjær Jensen, Lisette Okkels Jensen, Henrik Schmidt, Jacob Eifer Møller
RATIONALE: Short-term mechanical circulatory support is increasingly used in the management of cardiogenic shock, but data from controlled studies are sparse. Thus, real-life data on complication rates and predictors of adverse outcome are important. OBJECTIVE: The objective of this study was to analyse the experience with Impella devices in the management of profound cardiogenic shock. METHODS AND RESULTS: A retrospective study of 109 consecutive patients with severe shock after myocardial infarction, acute heart failure, or cardiac surgery...
November 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/29138463/talen-mediated-shift-of-mitochondrial-dna-heteroplasmy-in-melas-ipscs-with-m-13513g-a-mutation
#20
Naoki Yahata, Yuji Matsumoto, Minoru Omi, Naoki Yamamoto, Ryuji Hata
Induced pluripotent stem cells (iPSCs) are suitable for studying mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations. Here, we generated iPSCs from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with the m.13513G>A mutation. The patient's dermal fibroblasts were reprogrammed, and we established two iPSC clones with and without mutant mtDNA. Furthermore, we tried to decrease mutant mtDNA level in iPSCs using transcription activator-like effector nucleases (TALENs)...
November 14, 2017: Scientific Reports
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