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https://www.readbyqxmd.com/read/28101778/eight-novel-mut-loss-of-function-missense-mutations-in-chinese-patients-with-isolated-methylmalonic-academia
#1
Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu
BACKGROUND: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. METHODS: Eight Chinese patients were identified with novel mutations. Plasmids carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional analyses...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28093112/clinical-indicators-of-blood-gas-disturbances-elevated-l-lactate-concentration-and-other-abnormal-blood-parameters-in-newborn-beef-calves
#2
E R Homerosky, N A Caulkett, E Timsit, E A Pajor, J P Kastelic, M C Windeyer
Blood gas disturbances, commonly resulting from dystocia, are associated with failed transfer of passive immunity, morbidity and mortality in newborn calves. Modified APGAR scores intended to identify compromised calves are not widely adopted due to lack of practicality and inconsistent associations with blood parameters. The objective of this study was to determine clinical indicators of acidemia in newborn beef calves. Blood parameters at 10 min and 24 h after birth were compared to at-birth clinical examination parameters and calving characteristics in 77 commercial beef calves...
January 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28070528/methylmalonic-acidemia-diagnosis-by-laboratory-methods
#3
Keyfi Fatemeh, Talebi Saeed, Varasteh Abdol-Reza
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis...
October 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28064509/acute-salicylate-poisoning-risk-factors-for-severe-outcome
#4
Rachel M Shively, Robert S Hoffman, Alex F Manini
CONTEXT: Salicylate poisoning remains a significant public health threat with more than 20,000 exposures reported annually in the United States. OBJECTIVE: We aimed to establish early predictors of severe in-hospital outcomes in Emergency Department patients presenting with acute salicylate poisoning. METHODS: This was a secondary data analysis of adult salicylate overdoses from a prospective cohort study of acute drug overdoses at two urban university teaching hospitals from 2009 to 2013...
January 9, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28027700/management-of-persistent-occiput-posterior-position-a-substantial-role-of-instrumental-rotation-in-the-setting-of-failed-manual-rotation
#5
Paul Guerby, Mickael Allouche, Caroline Simon-Toulza, Christophe Vayssiere, Olivier Parant, Fabien Vidal
INTRODUCTION: To compare the maternal and neonatal outcomes associated with Instrumental Rotation (IR) to operative vaginal delivery in occiput posterior (OP) position with Thierry's spatulas (TS), in the setting of failed manual rotation (MR). STUDY DESIGN: We led a prospective observational cohort study in a tertiary referral hospital in Toulouse, France. All women presenting in labour with persistent OP position at full cervical dilatation and who delivered vaginally after failed MR and with IR or OP assisted delivery were included from January 2014 to December 2015...
December 27, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27974893/recoverable-record-high-lactic-acidosis-in-a-patient-with-glycogen-storage-disease-type-1-a-mixed-type-a-and-type-b-lactate-disorder
#6
Yonatan Oster, Isaiah D Wexler, Samuel N Heyman, Elchanan Fried
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#7
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#8
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27900673/expansion-of-the-phenotypic-spectrum-of-propionic-acidemia-with-isolated-elevated-propionylcarnitine
#9
Gerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, Kiki Ugarte, Nadia Merchant, William J Craigen, V Reid Sutton, Sarah H Elsea
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis...
November 30, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27899470/i-trach-validating-a-tool-for-predicting-prolonged-mechanical-ventilation
#10
Paul A Clark, Ryan C Inocencio, Christopher J Lettieri
PURPOSE: We previously developed a bedside model (I-TRACH), which used commonly obtained data at the time of intubation to predict the duration of mechanical ventilation (MV). We now sought to validate this in a prospective trial. METHODS: A prospective, observational study of 225 consecutive adult medical intensive care unit patients requiring MV. Utilizing the original 6 variables used in the I-TRACH model (Intubation in the ICU, Tachycardia [heart rate > 110], Renal dysfunction [blood urea nitrogen > 25], Acidemia [pH < 7...
November 28, 2016: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/27895154/kidney-tubular-ablation-of-ocrl-inpp5b-phenocopies-lowe-syndrome-tubulopathy
#11
Kazunori Inoue, Daniel M Balkin, Lijuan Liu, Ramiro Nandez, Yumei Wu, Xuefei Tian, Tong Wang, Robert Nussbaum, Pietro De Camilli, Shuta Ishibe
Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its paralog type 2 inositol polyphosphate-5-phosphatase (INPP5B). Germline knockout of both paralogs in mice results in early embryonic lethality. We report that kidney tubule-specific inactivation of Inpp5b on a global Ocrl-knockout mouse background resulted in low molecular weight proteinuria, phosphaturia, and acidemia...
November 28, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27890467/use-of-hyperbaric-oxygen-therapy-and-pegylated-carboxyhemoglobin-bovine-in-a-jehovah-s-witness-with-life-threatening-anemia-following-postpartum-hemorrhage
#12
K Thenuwara, J Thomas, M Ibsen, U Ituk, K Choi, E Nickel, M J Goodheart
We present a case of a Jehovah's Witness patient who refused blood products, with the exception of albumin and clotting factors, and underwent cesarean section under spinal anesthesia complicated by postpartum hemorrhage. She was fluid resuscitated and treated with multiple uterotonics and internal iliac artery embolization. Because of agitation she required emergency tracheal intubation. Her hemoglobin concentration dropped from a preoperative value of 12mg/dL to 3mg/dL on postoperative day one. She was acidotic, requiring vasopressors for hemodynamic stability and remained ventilated and sedated...
October 24, 2016: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/27875571/short-and-long-term-mortality-rates-of-elderly-acute-kidney-injury-patients-who-underwent-continuous-renal-replacement-therapy
#13
Harin Rhee, Keum Sook Jang, Jong Man Park, Jin Suk Kang, Na Kyoung Hwang, Il Young Kim, Sang Heon Song, Eun Young Seong, Dong Won Lee, Soo Bong Lee, Ihm Soo Kwak
BACKGROUND: The world's population is aging faster and the incidence of acute kidney injury (AKI) needing continuous renal replacement therapy (CRRT) is increasing in elderly population. The outcome of AKI needing CRRT in elderly patients is known to be poor. However, the definitions of elderly used in the previous literatures were diverse and, there were few data that compared the long-term mortality rates of these patients with middle aged patients. This study was aimed to evaluate this issue...
2016: PloS One
https://www.readbyqxmd.com/read/27869985/agreement-and-accuracy-using-the-figo-acog-and-nice-cardiotocography-interpretation-guidelines
#14
Susana Santo, Diogo Ayres-de-Campos, Cristina Costa-Santos, William Schnettler, Austin Ugwumadu, Luís M Da Graça
INTRODUCTION: One of the limitations reported with cardiotocography is the modest interobserver agreement observed in tracing interpretation. This study compared agreement, reliability and accuracy of cardiotocography interpretation using the International Federation of Gynecology and Obstetrics, American College of Obstetrics and Gynecology and National Institute for Health and Care Excellence guidelines. MATERIAL AND METHODS: A total of 151 tracings were evaluated by 27 clinicians from three centers where International Federation of Gynecology and Obstetrics, American College of Obstetrics and Gynecology and National Institute for Health and Care Excellence guidelines were routinely used...
November 21, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27853989/proposed-recommendations-for-diagnosing-and-managing-individuals-with-glutaric-aciduria-type-i-second-revision
#15
REVIEW
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R Greenberg, Inga Harting, Georg F Hoffmann, Daniela Karall, David M Koeller, Michael B Krawinkel, Jürgen G Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines)...
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27825584/autism-in-patients-with-propionic-acidemia
#16
Peter Witters, Eric Debbold, Kea Crivelly, Kristel Vande Kerckhove, Karen Corthouts, Brett Debbold, Hans Andersson, Lena Vannieuwenborg, Sam Geuens, Matthias Baumgartner, Tamas Kozicz, Lisa Settles, Eva Morava
Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2-4 times a year and underwent regular clinical, dietary and laboratory investigations...
December 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27819172/deceleration-area-and-fetal-academia
#17
Sabina Marti Gamboa, Maria Lapresta Moros, Jara Pascual Mancho, Carlos Lapresta Moros, Sergio Castán
AIMS: To compare the predictive ability for neonatal acidemia of individual components of intrapartum cardiotocography (CTG) described by National Institute of Child Health and Human Development (NICHD) system and deceleration area. DESIGN: Case-control study. SETTING: Spanish tertiary obstetrical hospital. POPULATION: CTG patterns of 102 acidemic fetus (umbilical arterial cord gas pH≤7.10, base deficit (BD)>8) and 102 non-acidemic controls (umbilical arterial cord gas pH > 7...
November 6, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27817225/efficiency-of-acidemia-correction-on-intermittent-versus-continuous-hemodialysis-in-acute-methanol-poisoning
#18
Sergey Zakharov, Daniela Pelclova, Tomas Navratil, Jaromir Belacek, Jiri Latta, Michal Pisar, Jan Rulisek, Jiri Leps, Pavel Zidek, Cyril Kucera, Robert Bocek, Miroslav Mazur, Zdenek Belik, Josef Chalupa, Viktor Talafa, Kamil Kodras, Daniel Nalos, Ctirad Sedlak, Michal Senkyrik, Jan Smid, Tomas Salek, Darren M Roberts, Knut Erik Hovda
CONTEXT: Acidemia is a marker of prognosis in methanol poisoning, as well as compounding formate-induced cytotoxicity. Prompt correction of acidemia is a key treatment of methanol toxicity and methods to optimize this are poorly defined. OBJECTIVE: We studied the efficiency of acidemia correction by intermittent hemodialysis (IHD) and continuous renal replacement therapy (CRRT) in a mass outbreak of methanol poisoning. METHODS: The study was designed as observational cohort study...
November 7, 2016: Clinical Toxicology
https://www.readbyqxmd.com/read/27804229/pulmonary-artery-hypertension-in-methylmalonic-acidemia
#19
Jun Kido, Hiroshi Mitsubuchi, Mina Sakanashi, Junichi Matsubara, Shirou Matsumoto, Rieko Sakamoto, Fumio Endo, Kimitoshi Nakamura
Methylmalonic acidemia (MMA) is an autosomal recessive disorder that can be classified into two types: (1) vitamin B12-responsive and (2) vitamin B12-non-responsive. In MMA cases with long-term survival, renal failure is often a problem, and timing for kidney transplantation for MMA is controversial. We encountered a vitamin B12-non-responsive MMA case for which regular hemodialysis for renal failure was initiated; the patient was 16 years old when she first received regular hemodialysis and 35 years old when she developed pulmonary artery hypertension (PAH)...
November 1, 2016: Hemodialysis International
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#20
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
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