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https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#1
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28405069/acquired-5-oxoproline-acidemia-successfully-treated-with-n-acetylcysteine
#2
Gregory L Hundemer, Andrew Z Fenves
Acquired 5-oxoprolinemia is increasingly recognized as a cause of anion gap metabolic acidosis. It predominantly occurs in chronically ill, malnourished women with impaired renal function and chronic acetaminophen ingestion. Depletion of glutathione and cysteine stores leads to elevated 5-oxoproline levels. N-acetylcysteine, given its effect in repleting glutathione and cysteine stores, has been proposed as a potential treatment for 5-oxoprolinemia, though reports of its successful use are lacking. We present a case of 5-oxoproline metabolic acidosis that persisted despite discontinuation of acetaminophen...
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28401058/a-rare-cause-of-recurrent-acute-pancreatitis-in-a-child-isovaleric-acidemia-with-novel-mutation
#3
Elif Sag, Alper Han Cebi, Gulay Kaya, Gulay Karaguzel, Murat Cakir
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28396202/newborn-blood-gas-derangements-of-children-born-extremely-preterm-and-neurocognitive-dysfunctions-at-age-10-years
#4
Alan Leviton, Elizabeth N Allred, Robert M Joseph, T Michael O'Shea, Karl C K Kuban
Among 740 children born extremely preterm, we evaluated the relationship between the highest and lowest quartiles of the distributions of PaO2 and PaCO2, as well as the lowest quartile of pH on one day, and separately on two days, and the risk of neurocognitive, language, and behavioral dysfunctions at age 10 years. Children who had hypoxemia, hyperoxemia, hypocapnia, hypercapnia, and acidemia, sometimes on only one day, and sometimes on two or more days, were more likely than others to have a high illness severity score (within the first 12 postnatal hours), and 10 years later to have multiple dysfunctions...
April 7, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28395089/methylmalonate-induces-inflammatory-and-apoptotic-potential-a-link-to-glial-activation-and-neurological-dysfunction
#5
Patricia Gabbi, Leandro Rodrigo Ribeiro, Gutierres Jessié Martins, Alexandra Seide Cardoso, Fernanda Haupental, Fernanda Silva Rodrigues, Alencar Kolinski Machado, Juliana Sperotto Brum, M M Medeiros Frescura Duarte, Maria Rosa Chitolina Schetinger, Ivana Beatrice Mânica da Cruz, Ana Flávia Furian, Mauro Schneider Oliveira, Adair Roberto Soares Dos Santos, Luiz Fernando Freire Royes, Michele Rechia Fighera, Mayara Lutchemeyer de Freitas
Methylmalonic acid (MMA) accumulates in tissues in methylmalonic acidemia, a heterogeneous group of inherited childhood diseases characterized by neurological dysfunction, oxidative stress and neuroinflammation; it is associated with degeneration of striatal neurons and cerebral cortical atrophy. It is presently unknown, however, whether transient exposure to MMA in the neonatal period is sufficient to trigger inflammatory and apoptotic processes that lead to brain structural damage. Here, newborn mice were given a single intracerebroventricular dose of MMA at 12 hours after birth...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28390725/comparison-of-a-commercially-available-oral-nutritional-supplement-and-intravenous-fluid-therapy-for-dehydration-in-dairy-calves
#6
Jared D Taylor, Merel Rodenburg, Timothy A Snider
Calf scours is a primary cause of morbidity and mortality in the dairy industry. Effective treatments are needed to minimize death, maximize welfare, and maintain growth and productivity. The objective of this trial was to compare the efficacy of a commercially available nutritional supplement (Diaque, Boehringer-Ingelheim Vetmedica Inc., St. Joseph, MO) and i.v. lactated Ringer's solution (LRS) in rehydrating, preventing acidemia, and correcting electrolyte imbalances in an experimental model for calf scours...
April 5, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28389991/genotype-phenotype-correlation-in-18-egyptian-patients-with-glutaric-acidemia-type-i
#7
Ahmed Mosaeilhy, Magdy M Mohamed, George Priya Doss C, Heba S A El Abd, Radwa Gamal, Osama K Zaki, Hatem Zayed
Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, dystonia and frontotemporal atrophy. In this study, we investigated 18 Egyptian patients that were diagnosed with GAI based on their clinical, neuroradiological, and biochemical profiles. Of the 18 patients, 16 had developmental delay and/or regression, dystonia was prominent in 75% of the cases, and three patients died...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28388526/sepsis-associated-in-hospital-cardiac-arrest-epidemiology-pathophysiology-and-potential-therapies
#8
REVIEW
Ryan W Morgan, Julie C Fitzgerald, Scott L Weiss, Vinay M Nadkarni, Robert M Sutton, Robert A Berg
Sepsis-associated cardiac arrest is a relatively common occurrence with especially poor outcomes. Of the greater than 200,000 in-hospital cardiac arrests that occur in the United States annually, between 30,000 and 60,000 occur in patients with underlying sepsis. These patients are less likely to survive than cardiac arrest victims without sepsis. In this review, we discuss the epidemiology of sepsis-associated in-hospital cardiac arrest in adults and children, the relevant physiology responsible for its pathogenesis and poor outcomes, and potential therapeutic interventions based on this pathophysiology...
March 31, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28372508/the-small-for-gestational-age-fetus-has-an-intact-ability-to-develop-lacticemia-when-exposed-to-hypoxia-a-retrospective-comparative-register-study
#9
Fernanda Åkerman, Parisa Mokarami, Karin Källén, Per Olofsson
OBJECTIVE: To investigate the ability of small-for-gestational-age (SGA) fetuses to develop lacticemia during hypoxia. METHODS: Umbilical cord arterial and venous pH, lactate and glucose concentrations were determined in 1777 SGA (<10th percentile) and 14,569 AGA newborns and related to acidemia (pH < mean -2SD). Non-parametric statistics with two-sided p < .05 were considered significant. RESULTS: Glucose and lactate were linearly related and both variables correlated negatively with pH...
April 21, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28359305/antenatal-nephromegaly-and-propionic-acidemia-a-case-report
#10
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel
BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION: We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28302933/essential-tremor-with-aspartic-acidemia
#11
Shiroh Miura, Ryuta Fujioka, Takayuki Taniwaki
We describe two cases of typical essential tremor with aspartic acidemia and mildly increased concentrations of plasma glutamic acid. Although this is a preliminary report, we emphasize the possibility of using amino acids, including aspartic acid, as biomarkers for the detection of essential tremor.
March 15, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28302372/experiences-during-newborn-screening-for-glutaric-aciduria-type-1-diagnosis-treatment-genotype-phenotype-and-outcomes
#12
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, Shu-Chen Hsieh, Yung-Hsiu Lu, Ming-Che Lee, Ju-Shan Pai, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Ming-Tzu Tsai, Ping-Hsun Ho, Min-Chieh Lin, Ling-Yee Cheng, Ya-Chin Chuang, Dau-Ming Niu
BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness...
March 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28301895/association-of-fetal-heart-rate-baseline-change-and-neonatal-outcomes
#13
Michael Yang, Molly J Stout, Julia D López, Ryan Colvin, George A Macones, Alison G Cahill
Objective The objective of this study was to describe the incidence of baseline change within normal range during labor and its prediction of neonatal outcomes. Materials and Methods This was a prospective cohort of singleton, nonanomalous, term neonates with continuous electronic fetal monitoring and normal baseline fetal heart rate throughout the last 2 hours of labor. We determined baseline in 10-minute segments using Eunice Kennedy Shriver National Institute of Child Health and Human Development criteria...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28298669/veno-venous-extracorporeal-membrane-oxygenation-for-continuous-renal-replacement-in-a-neonate-with-propionic-acidemia
#14
Jeffrey W Gander, Erika T Rhone, William G Wilson, John P Barcia, Melissa J Sacco
The usual indications for extra corporeal membrane oxygenation (ECMO) are for respiratory or cardiac failure. Although continuous renal replacement therapy (CRRT) is frequently used when patients are on ECMO, the need for CRRT as the primary indication for ECMO is rare. A case of a neonate placed onto veno-venous ECMO for the use of CRRT to treat hyperammonemia from propionic acidemia is presented.
March 2017: Journal of Extra-corporeal Technology
https://www.readbyqxmd.com/read/28284927/apneic-oxygenation-versus-low-tidal-volume-ventilation-in-anesthetized-cardiac-surgical-patients-a-prospective-single-center-randomized-controlled-trial
#15
Laura Machan, Leonid Churilov, Raymond Hu, Philip Peyton, Chong Tan, Param Pillai, Louise Ellard, Ian Harley, David Story, Philip Hayward, George Matalanis, Nicholas Roubos, Sivendran Seevanayagam, Laurence Weinberg
OBJECTIVES: To compare the physiology of apneic oxygenation with low-tidal-volume (VT) ventilation during harvesting of the left internal mammary artery. DESIGN: Prospective, single-center, randomized trial. SETTING: Single-center teaching hospital. PARTICIPANTS: The study comprised 24 patients who underwent elective coronary artery bypass grafting surgery. INTERVENTIONS: Apneic oxygenation (apneic group: 12 participants) and low-VT ventilation (low-VT group: 12 participants) (2...
December 30, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28277364/intrauterine-hyperoxemia-and-risk-of-neonatal-morbidity
#16
Nandini Raghuraman, Lorene A Temming, Molly J Stout, George A Macones, Alison G Cahill, Methodius G Tuuli
OBJECTIVE: To test the hypothesis that intrauterine hyperoxemia is associated with an increased risk of neonatal morbidity. METHODS: This was a secondary analysis of a prospective study of singleton, nonanomalous deliveries at or beyond 37 weeks of gestation at an institution with a universal umbilical cord gas policy from 2010 to 2014. The primary outcome was a composite of neonatal morbidity including neonatal death, meconium aspiration syndrome, intubation, mechanical ventilation, hypoxic-ischemic encephalopathy, and hypothermic therapy...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28275552/dietary-practices-in-isovaleric-acidemia-a-european-survey
#17
A Pinto, A Daly, S Evans, M F Almeida, M Assoun, A Belanger-Quintana, S Bernabei, S Bollhalder, D Cassiman, H Champion, H Chan, J Dalmau, F de Boer, C de Laet, A de Meyer, A Desloovere, A Dianin, M Dixon, K Dokoupil, S Dubois, F Eyskens, A Faria, I Fasan, E Favre, F Feillet, A Fekete, G Gallo, C Gingell, J Gribben, K Kaalund-Hansen, N Horst, C Jankowski, R Janssen-Regelink, I Jones, C Jouault, G E Kahrs, I L Kok, A Kowalik, C Laguerre, S Le Verge, R Lilje, C Maddalon, D Mayr, U Meyer, A Micciche, M Robert, J C Rocha, H Rogozinski, C Rohde, K Ross, I Saruggia, A Schlune, K Singleton, E Sjoqvist, L H Stolen, A Terry, C Timmer, L Tomlinson, A Tooke, K Vande Kerckhove, E van Dam, T van den Hurk, L van der Ploeg, M van Driessche, M van Rijn, A van Teeffelen-Heithoff, A van Wegberg, C Vasconcelos, H Vestergaard, I Vitoria, D Webster, F J White, L White, H Zweers, A MacDonald
BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28270884/critical-imperative-for-the-reform-of-british-interpretation-of-fetal-heart-rate-decelerations-analysis-of-figo-and-nice-guidelines-post-truth-foundations-cognitive-fallacies-myths-and-occam-s-razor
#18
REVIEW
Shashikant L Sholapurkar
Cardiotocography (CTG) has disappointingly failed to show good predictability for fetal acidemia or neonatal outcomes in several large studies. A complete rethink of CTG interpretation will not be out of place. Fetal heart rate (FHR) decelerations are the most common deviations, benign as well as manifestation of impending fetal hypoxemia/acidemia, much more commonly than FHR baseline or variability. Their specific nomenclature is important (center-stage) because it provides the basic concepts and framework on which the complex "pattern recognition" of CTG interpretation by clinicians depends...
April 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28247525/mutation-in-mitochondrial-complex-iv-subunit-cox5a-causes-pulmonary-arterial-hypertension-lactic-acidemia-and-failure-to-thrive
#19
Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, Khalfan Al-Senaidi, Niranjan P Joshi, Hanka Venselaar, Mariël Am van den Brand, Leo Gj Nijtmans, Richard Jt Rodenburg
COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset pulmonary arterial hypertension, lactic acidemia, failure to thrive and isolated complex IV deficiency are presented. We show that the variant lies within the evolutionarily conserved COX5A/COX4 interface domain, suggesting that it alters the interaction between these two subunits during complex IV biogenesis...
March 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28245189/the-variable-clinical-phenotype-of-three-patients-with-hepatic-glycogen-synthase-deficiency
#20
Çiğdem Seher Kasapkara, Zehra Aycan, Esma Açoğlu, Saliha Senel, Melek Melahat Oguz, Serdar Ceylaner
BACKGROUND: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with glycogen synthase deficiency...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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