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https://www.readbyqxmd.com/read/29350673/glyphosate-ingestion-causing-multiple-organ-failure-a-near-fatal-case-report
#1
Edoardo Picetti, Michela Generali, Francesca Mensi, Giampaolo Neri, Roberta Damia, Giuseppe Lippi, Gianfranco Cervellin
A 55 years old man self-presented to our Emergency Department (ED) reporting an attempted suicide by cutting the left forearm veins and ingesting approximately 200 mL of an herbicide (Myrtos®, containing 36% of glyphosate as isopropylamine salt). Laboratory tests showed metabolic acidosis. Hydration with normal saline and alkalinization with sodium bicarbonate was started according to suggestion of the poison control center, since an antidote was unavailable. Cardiorespiratory condition gradually worsened, so that non-invasive positive pressure ventilation (NIPPV) was applied and infusion of fluids was established...
January 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29350304/defective-mitochondrial-atpase-due-to-rare-mtdna-m-8969g-a-mutation-causing-lactic-acidosis-intellectual-disability-and-poor-growth
#2
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G>A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability...
January 19, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29348686/defects-in-the-mitochondrial-trna-modification-enzymes-mto1-and-gtpbp3-promote-different-metabolic-reprogramming-through-a-hif-ppar%C3%AE-ucp2-ampk-axis
#3
Rachid Boutoual, Salvador Meseguer, Magda Villarroya, Elena Martín-Hernández, Mohammed Errami, Miguel A Martín, Marta Casado, M-Eugenia Armengod
Human proteins MTO1 and GTPBP3 are thought to jointly catalyze the modification of the wobble uridine in mitochondrial tRNAs. Defects in each protein cause infantile hypertrophic cardiomyopathy with lactic acidosis. However, the underlying mechanisms are mostly unknown. Using fibroblasts from an MTO1 patient and MTO1 silenced cells, we found that the MTO1 deficiency is associated with a metabolic reprogramming mediated by inactivation of AMPK, down regulation of the uncoupling protein 2 (UCP2) and transcription factor PPARγ, and activation of the hypoxia inducible factor 1 (HIF-1)...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348282/acquired-pyloric-stenosis-resulting-in-hypokalaemic-hyperchloraemic-normal-anion-gap-metabolic-acidosis-persistent-vomiting-in-an-adult-cause-and-effect
#4
Philip Kaye
A 24-year-old woman presented with a history of persistent vomiting for at least 3 months. This resulted in severe dehydration with risk of acute kidney injury. In addition to volume depletion, loss of gastric fluid resulted in a specific metabolic derangement-hypokalaemic, hypochloraemic normal anion gap metabolic alkalosis with a reduced ionised calcium concentration and paradoxical aciduria. These metabolic changes were reflected in her ECG. Investigation demonstrated acquired gastric outflow tract obstruction secondary to a pyloric peptic ulcer...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29346122/bolus-norepinephrine-administration-and-fetal-acidosis-at-cesarean-delivery-under-spinal-anesthesia
#5
David W Cooper
No abstract text is available yet for this article.
January 17, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29345400/fludrocortisone-a-treatment-for-tubulopathy-post-paediatric-renal-transplantation-a-national-paediatric-nephrology-unit-experience
#6
S R Ali, I Shaheen, D Young, I Ramage, H Maxwell, D A Hughes, D Athavale, M G Shaikh
Calcineurin inhibitors post-renal transplantation are recognized to cause tubulopathies in the form of hyponatremia, hyperkalemia, and acidosis. Sodium supplementation may be required, increasing medication burden and potentially resulting in poor compliance. Fludrocortisone has been beneficial in addressing tubulopathies in adult studies, with limited paediatric data available. A retrospective review of data from an electronic renal database from December 2014 to January 2016 was carried out. Forty-seven post-transplant patients were reviewed with 23 (49%) patients on sodium chloride or bicarbonate...
January 18, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29344814/nutritional-therapy-in-autosomal-dominant-polycystic-kidney-disease
#7
REVIEW
Biagio R Di Iorio, Adamasco Cupisti, Claudia D'Alessandro, Antonio Bellasi, Vincenzo Barbera, Luca Di Lullo
CKD-related nutritional therapy (NT) is a crucial cornerstone of CKD patients' treatment, but the role of NT has not been clearly investigated in autosomal dominant polycystic kidney disease (ADPKD). Several clinical studies have focused on new pharmacological approaches to delay cystic disease progression, but there are no data on dietary interventions in ADPKD patients. The aim of this paper is to analyze the evidence from the literature on the impact of five nutritional aspects (water, sodium, phosphorus, protein intake, and net acid load) in CKD-related ADPKD extrapolating-where information is unavailable-from what occurs in CKD non-ADPKD patients Sodium intake restriction could be useful in decreasing the growth rate of cysts...
January 17, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29344509/review-of-the-diagnostic-evaluation-of-normal-anion-gap-metabolic-acidosis
#8
REVIEW
Kenrick Berend
Background: Normal anion gap metabolic acidosis is a common but often misdiagnosed clinical condition associated with diarrhea and renal tubular acidosis (RTA). Early identification of RTA remains challenging for inexperienced physicians, and diagnosis and treatment are often delayed. Summary: The presence of RTA should be considered in any patient with a high chloride level when the CL-/Na+ ratio is above 0.79, if the patient does not have diarrhea. In patients with significant hyperkalemia one should evaluate for RTA type 4, especially in diabetic patients, with a relatively conserved renal function...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344508/acid-base-and-electrolyte-disorders-in-patients-with-and-without-chronic-kidney-disease-an-update
#9
REVIEW
Tsering Dhondup, Qi Qian
Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#10
REVIEW
Francesco Trepiccione, Federica Prosperi, Luigi Regenburgh de la Motte, Christian A Hübner, Regine Chambrey, Dominique Eladari, Giovambattista Capasso
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1, encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4, encoding for the B1 and a4 subunits of the vH+ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#11
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29340159/recurrent-lactic-acidosis-and-hypoglycemia-with-inadvertent-metformin-use-a-case-of-look-alike-pills
#12
Tess Jacob, Renee Garrick, Michael D Goldberg
Metformin is recommended as the first-line agent for the treatment of type 2 diabetes. Although this drug has a generally good safety profile, rare but potentially serious adverse effects may occur. Metformin-associated lactic acidosis, although very uncommon, carries a significant risk of mortality. The relationship between metformin accumulation and lactic acidosis is complex and is affected by the presence of comorbid conditions such as renal and hepatic disease. Plasma metformin levels do not reliably correlate with the severity of lactic acidosis...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29340149/acute-kidney-injury-due-to-multiple-hymenoptera-stings-a-clinicopathological-study
#13
Sanjay Vikrant, Anupam Parashar
Background: Acute kidney injury (AKI) after multiple Hymenoptera stings is well known but still a rare phenomenon. Methods: We conducted a retrospective study of the clinicopathological spectrum of AKI due to multiple Hymenoptera stings over 13 years (July 2003-June 2016). Results: A total of 35 patients were diagnosed with AKI due to multiple Hymenoptera stings. The mean age of the patients was 44.7 ± 17.4 years and the majority (60%) were men...
August 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29339230/balanced-crystalloids-vs-0-9-saline-for-adult-patients-undergoing-non-renal-surgery-a-meta-analysis
#14
REVIEW
Lili Huang, Xiaoshuang Zhou, Hai Yu
BACKGROUND: Fluid maintenance and resuscitation is an important strategy during major surgeries. There has been a debate on the choice of crystalloids over the past decades. 0.9% saline (normal saline) is more likely to cause hyperchloremic acidosis when compared to balanced crystalloids with low chloride content. Meta-analyses comparing these two kinds of crystalloids have been performed in renal transplantations. We aim to compare the safety of balanced crystalloids to normal saline among adult patients undergoing non-renal surgery...
January 12, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29339119/targeting-of-stress-response-pathways-in-the-prevention-and-treatment-of-cancer
#15
REVIEW
Jaroslav Zelenka, Martina Koncošová, Tomáš Ruml
The hallmarks of tumor tissue are not only genetic aberrations but also the presence of metabolic and oxidative stress as a result of hypoxia and lactic acidosis. The stress activates several prosurvival pathways including metabolic remodeling, autophagy, antioxidant response, mitohormesis, and glutaminolysis, whose upregulation in tumors is associated with a poor survival of patients, while their activation in healthy tissue with statins, metformin, physical activity, and natural compounds prevents carcinogenesis...
January 12, 2018: Biotechnology Advances
https://www.readbyqxmd.com/read/29337920/acute-traumatic-endotheliopathy-in-isolated-severe-brain-injury-and-its-impact-on-clinical-outcome
#16
Venencia Albert, Arulselvi Subramanian, Deepak Agrawal, Hara Prasad Pati, Siddhartha Datta Gupta, Asok Kumar Mukhopadhyay
STUDY DESIGN: Prospective observational cohort. OBJECTIVE: To investigate the difference in plasma levels of syndecan-1 (due to glycocalyx degradation) and soluble thrombomodulin (due to endothelial damage) in isolated severe traumatic brain injury (TBI) patients with/without early coagulopathy. A secondary objective was to compare the effects of the degree of TBI endotheliopathy on hospital mortality among patients with TBI-associated coagulopathy (TBI-AC). METHODS: Data was prospectively collected on isolated severe TBI (sTBI) patients with Glasgow Coma Scale (GCS) ≤8 less than 12 h after injury admitted to a level I trauma centre...
January 16, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29336990/failure-of-intracardiac-pacing-after-fatal-propafenone-overdose-a-case-report
#17
Ivan Zeljković, Nikola Bulj, Matea Kolačević, Vedran Čabrilo, Diana Delić Brkljačić, Šime Manola
BACKGROUND: Propafenone is a sodium-channel blocker, class IC antiarrhythmic drug, frequently used to manage supraventricular dysrhythmias, especially atrial fibrillation. We report a self mono-intoxication with propafenone. CASE REPORT: A 68-year-old woman presented with a decreased level of consciousness, hypotension, and electrocardiogram showing QRS widening with atrial asystole and extreme bradycardia < 20 beats/min. After initial stabilization with transcutaneous pacing, laboratory findings detected normal electrolyte ranges and metabolic acidosis, and her medical history revealed availability of propafenone due to paroxysmal atrial fibrillation and depressive syndrome, which led to the suspicion of intoxication...
January 11, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29333622/metabolic-acidosis-and-anaemia-associated-with-dorzolamide-in-a-patient-with-impaired-renal-function
#18
Iva Hoffmanová, Daniel Sánchez
Topical carbonic anhydrase inhibitors (CAI), used for treatment of glaucoma, are generally regarded as safe and unconnected with systemic side effects. We report an unusual case of fatigue, metabolic acidosis, and normocytic anaemia associated with ocular administration of the CAI, dorzolamide, in a patient with impaired renal function. In chronic kidney disease, where CAI elimination may be decreased, and patients prone to develop metabolic acidosis, systemic absorption of ocular administered CAI could lead to rare, but potentially serious adverse reaction, that are a consequence of inhibition of extraocular carbonic anhydrase isoenzymes...
January 14, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29331741/extracellular-acidification-induces-ros-and-mptp-mediated-death-in-hek293-cells
#19
José Teixeira, Farhan Basit, Herman G Swarts, Marleen Forkink, Paulo J Oliveira, Peter H G M Willems, Werner J H Koopman
The extracellular pH (pHe) is a key determinant of the cellular (micro)environment and needs to be maintained within strict boundaries to allow normal cell function. Here we used HEK293 cells to study the effects of pHe acidification (24h), induced by mitochondrial inhibitors (rotenone, antimycin A) and/or extracellular HCl addition. Lowering pHe from 7.2 to 5.8 reduced cell viability by 70% and was paralleled by a decrease in cytosolic pH (pHc), hyperpolarization of the mitochondrial membrane potential (Δψ), increased levels of hydroethidine-oxidizing ROS and stimulation of protein carbonylation...
December 30, 2017: Redox Biology
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#20
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
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