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https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#1
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28888605/effects-of-profound-acidemia-on-the-dynamic-glucose-and-insulin-response-and-plasma-potassium-and-phosphorus-concentrations-during-an-intravenous-glucose-tolerance-test-in-neonatal-calves
#2
F M Trefz, I Lorenz, P D Constable
Acidemia and electrolyte imbalances such as hyperkalemia are common in neonatal calves with diarrhea. Acidemia negatively affects the cellular response to insulin and may therefore result in deranged glucose, potassium, and phosphorus homeostasis. The primary aim of this study was to compare indices that characterize the dynamic glucose and insulin response between acidemic and nonacidemic neonatal diarrheic calves and a healthy control group during an intravenous glucose tolerance test (IVGTT) that consisted of i...
September 6, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28885991/chronic-diarrhea-and-metabolic-acidosis-associated-with-topiramate-use
#3
Gaby S Gil, Ana Caballes, Estuardo Saravia F, Noella Boma
No abstract text is available yet for this article.
September 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28885783/uterine-balloon-tamponade-for-the-management-of-postpartum-haemorrhage-a-challenge-and-an-opportunity-for-better-evidence
#4
O A Viteri, B M Sibai
Postpartum haemorrhage (PPH) is a leading cause of maternal morbidity and mortality worldwide.The most common cause of PPH is uterine atony (80%) of cases, resulting from suboptimal uterine involution and poor contraction of spiral arteries following placental separation. The goal of therapy is timely intervention to prevent haemorrhagic hypovolemic shock, intravascular disseminated coagulopathy, reduced tissue perfusion, and metabolic acidosis. This article is protected by copyright. All rights reserved.
September 8, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28883241/ketoacidosis-due-to-a-low-carbohydrate-diet-in-an-elderly-woman-with-dementia-and-abnormal-eating-behavior
#5
Hitoshi Iwata, Seiichiro Tsuzuki, Mitsunaga Iwata, Teruhiko Terasawa
Strict restriction of carbohydrates can induce symptomatic ketoacidosis. We herein report a 76-year-old demented woman who developed ketoacidosis after 1 month of abnormal eating behavior involving selectively eating hamburger steak (estimated carbohydrate =12.7 g/day). Laboratory tests showed high-anion-gap metabolic acidosis with elevated blood ketone levels. She was successfully treated with intravenous fluids followed by oral intake of a regular diet. She remained relapse-free after correcting her eating habits...
September 6, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28875427/epileptic-seizures-in-nonalcoholic-wernicke-s-encephalopathy-a-case-report-and-literature-review
#6
Wenjin Shang, Xiuhui Chen, Xunhua Li, Hongbing Chen, Shujin Tang, Hua Hong
Wernicke encephalopathy (WE) is characterized by eye signs, cerebellar dysfunction, and confusion. Epileptic seizures are rare in nonalcoholic WE. We reviewed the clinical, laboratory, radiological, and prognostic characteristics of nonalcoholic WE accompanied by epileptic seizures. We reported 1 case and searched similar cases using PubMed, WoK, Ovid, and Embase. WE was diagnosed according to dietary deficiencies, clinical symptoms and brain magnetic resonance imaging (MRI). We reviewed 13 patients (median age, 27 years; 5 men) with clear histories of thiamine deficiency and symptoms of typical WE...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28871521/astragaloside-iv-prevents-acute-kidney-injury-and-inflammation-by-normalizing-muscular-mitochondrial-function-associated-with-a-nitric-oxide-protective-mechanism-in-crush-syndrome-rats
#7
Isamu Murata, Yuji Abe, Yuka Yaginuma, Kayako Yodo, Yuka Kamakari, Yurika Miyazaki, Daichi Baba, Yuko Shinoda, Toru Iwasaki, Kunihiko Takahashi, Jun Kobayashi, Yutaka Inoue, Ikuo Kanamoto
BACKGROUND: Crush syndrome (CS) is a serious medical condition characterized by muscle cell damage resulting from decompression after compression (i.e., ischemia/reperfusion injury). A large number of CS patients develop cardiac failure, kidney dysfunction, and systemic inflammation, even when fluid therapy is administered. We evaluated whether the administration of astragaloside-IV (AS)-containing fluid improved survival by preventing kidney and muscular mitochondrial dysfunction in a rat model of CS...
September 4, 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28870729/tigecylcine-induced-inhibition-of-mitochondrial-mtdna-translation-may-cause-a-lethal-mitochondrial-dysfunction-in-human
#8
S J Vandecasteele, S Seneca, J Smet, M Reynders, J De Ceulaer, A V Vanlander, R Van Coster
OBJECTIVES: A 65-year old patient developed an unexplained and ultimately lethal metabolic acidosis under prolonged treatment with tigecycline. Tigecycline is known to have a selective inhibitory effect on eukaryotic mitochondrial translation. The underlying molecular mechanisms of the metabolic acidosis in this patient were explored. METHODS: OXPHOS analysis, blue native PAGE followed by in-gel activity staining in mitochondria, molecular analysis of mtDNA for genomic rearrangements and sequencing of the rRNA genes was performed on the proband's skeletal muscle...
September 1, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28868358/glycogenic-hepatopathy-a-complication-of-uncontrolled-diabetes
#9
Medha Satyarengga, Yelena Zubatov, Sylvaine Frances, Gopal Narayanswami, Rodolfo J Galindo
OBJECTIVE: To describe a case of hepatomegaly and elevated transaminases in a patient with glycogenic hepatopathy (GH) as a complication of uncontrolled diabetes. METHODS: Clinical, laboratory, and pathological information are described. RESULTS: An 18-year-old male with uncontrolled type 1 diabetes and recurrent diabetic ketoacidosis (DKA) presented with abdominal distention and severe hyperglycemia. Physical examination revealed massive hepatomegaly...
2017: AACE Clinical Case Reports
https://www.readbyqxmd.com/read/28859164/tss-seq-analysis-of-low-ph-induced-gene-expression-in-intercalated-cells-in-the-renal-collecting-duct
#10
Yuichiro Izumi, Hideki Inoue, Yushi Nakayama, Koji Eguchi, Yukiko Yasuoka, Naomi Matsuo, Hiroshi Nonoguchi, Yutaka Kakizoe, Takashige Kuwabara, Masashi Mukoyama
Metabolic acidosis often results from chronic kidney disease; in turn, metabolic acidosis accelerates the progression of kidney injury. The mechanisms for how acidosis facilitates kidney injury are not fully understood. To investigate whether low pH directly affects the expression of genes controlling local homeostasis in renal tubules, we performed transcription start site sequencing (TSS-Seq) using IN-IC cells, a cell line derived from rat renal collecting duct intercalated cells, with acid loading for 24 h...
2017: PloS One
https://www.readbyqxmd.com/read/28854513/preoperative-metabolic-acidosis-in-infants-with-gastroschisis
#11
W El-Naggar, A Almudeer, M Vincer, N L Yanchar
INTRODUCTION: There is little in literature regarding preoperative management of infants with gastroschisis. It is unclear if these infants develop metabolic acidosis as a consequence of prolonged intrauterine gut compromise or dehydration secondary to increased fluid loss. AIM: To assess the frequency of preoperative metabolic acidosis in infants with gastroschisis and investigate whether this acidosis reflects degree of gut compromise. METHODS: All infants with gastroschisis born between May 2005 and April 2013 in a single tertiary care center were reviewed...
August 23, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28851305/nephrolithiasis-and-osteomalacia-associated-with-adefovir-induced-fanconi-syndrome-in-a-patient-with-hepatitis-b
#12
Jueying Lin, Yufeng Zhuo, Dongdong Zhang
BACKGROUND: An increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with nephrolithiasis is quite rare. Herein, we report a rare coexistence of nephrolithiasis and acquired renal Fanconi syndrome in a chronic hepatitis B-positive patient with prolonged adefovir therapy. CASE PRESENTATION: The patient presented with osteomalacia and nephrolithiasis...
August 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28847139/swimming-three-ice-miles-within-fifteen-hours
#13
Mirko Stjepanovic, Pantelis T. Nikolaidis, Beat Knechtle
Ice Mile swimming (1608 m in water of below 5 °Celsius) is becoming increasingly popular. This case study aimed to identify body core temperature and selected haematological and biochemical parameters before and after repeated Ice Miles. An experienced ice swimmer completed three consecutive Ice Miles within 15 h. Swim times, body core temperatures, and selected urinary and haematological parameters were recorded. Body core temperature reached its maximum between 5, 8 and 15 min after immersion (37.7°C, 38...
August 31, 2017: Chinese Journal of Physiology
https://www.readbyqxmd.com/read/28839447/hypokalemic-paralysis-a-hidden-card-of-several-autoimmune-diseases
#14
Yelitza Velarde-Mejía, Rocío Gamboa-Cárdenas, Manuel Ugarte-Gil, César Pastor Asurza
Acute hypokalemic paralysis is a rare and potentially fatal condition, with few related causes, one of which highlights distal renal tubular acidosis (dRTA). Distal renal tubular acidosis is a rare complication of several autoimmune diseases such as systemic lupus erythematosus, Sjögren's syndrome, and Hashimoto thyroiditis. We report a case of a lupic patient who presented rapidly progressive quadriparesis in the context of active renal disease. Research revealed severe refractory hypokalemia, metabolic acidosis, and alkaline urine suggestive of dRTA...
2017: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28834137/evaluation-of-the-expected-ventilatory-response-to-metabolic-acidosis-in-chronic-hemodialysis-patients
#15
Marco Marano
INTRODUCTION: Expected pCO2 during metabolic acidosis should be computed to rule out superimposing respiratory acid-base disorders, the latter being featured by too high or too low pCO2 than expected. At least 4 different and inconsistent formulas exist. Based on the common practical rule, the reduction of pCO2 equals 1.2 multiplied by the reduction of serum bicarbonate ([HCO3-]), whereas pCO2 equals to the 2 digit after pH decimal point according to Fulop. Instead, based on Winters' formula, pCO2 equals to 1...
August 23, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28828886/topiramate-and-metabolic-acidosis-an-evolving-story
#16
Shruti Gupta, Jennifer J Gao, Michael Emmett, Andrew Z Fenves
Topiramate is an anticonvulsant that is being increasingly used for a number of different off-label indications. Its inhibition of carbonic anhydrase isoenzymes can lead to metabolic acidosis, elevated urine pH, reduced urine citrate, and hypercalciuria, thereby creating a milieu that is ripe for calcium phosphate stone formation. In this review, we describe a case of topiramate-induced metabolic acidosis. We review the frequency of metabolic acidosis among children and adults, as well as the mechanism of hyperchloremic metabolic acidosis and renal tubular acidosis in topiramate users...
September 1, 2017: Hospital Practice (Minneapolis)
https://www.readbyqxmd.com/read/28820737/when-one-disease-is-not-enough-succinyl-coa-3-oxoacid-coenzyme-a-transferase-scot-deficiency-due-to-a-novel-mutation-in-oxct1-in-an-infant-with-known-phenylketonuria
#17
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28820736/long-qt-syndrome-diagnosed-in-two-sisters-with-propionic-acidemia-a-case-report
#18
Ensar Duras, Ahmet İrdem, Ozan Özkaya
Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28817693/clinical-signs-profound-acidemia-hypoglycemia-and-hypernatremia-are-predictive-of-mortality-in-1-400-critically-ill-neonatal-calves-with-diarrhea
#19
Florian M Trefz, Ingrid Lorenz, Annette Lorch, Peter D Constable
Profound acidemia impairs cellular and organ function and consequently should be associated with an increased risk of mortality in critically ill humans and animals. Neonatal diarrhea in calves can result in potentially serious metabolic derangements including profound acidemia due to strong ion (metabolic) acidosis, hyper-D-lactatemia, hyper-L-lactatemia, azotemia, hypoglycemia, hyperkalemia and hyponatremia. The aim of this retrospective study was to assess the prognostic relevance of clinical and laboratory findings in 1,400 critically ill neonatal calves with diarrhea admitted to a veterinary teaching hospital...
2017: PloS One
https://www.readbyqxmd.com/read/28812381/retrospective-review-of-sglt2-inhibitor-exposures-reported-to-13-poison-centers
#20
Scott E Schaeffer, Carol DesLauriers, Henry A Spiller, Alfred Aleguas, Salvador Baeza, Mark L Ryan
BACKGROUND: SGLT2 inhibitors are a new class of oral antidiabetics prescribed in the United States since 2013. They act by inhibiting reabsorption of glucose in the proximal convoluted tubule of the kidney, allowing excess glucose to be excreted. Little has been reported regarding effects of non-therapeutic exposure to this class of medication. METHODS: Retrospective records from 13 poison centers were examined for human exposures to SGLT2 inhibitors between 1st January 2013 and 31st December 2016...
August 16, 2017: Clinical Toxicology
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