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https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
Susana Santo, Diogo Ayres-De-Campos, Cristina Costa-Santos, William Schnettler, Austin Ugwumadu, Luís Mendes Da Graça
INTRODUCTION: One of the limitations reported with cardiotocography (CTG) is the modest interobserver agreement observed in tracing interpretation. This study compared agreement, reliability and accuracy of CTG interpretation using the FIGO, ACOG and NICE guidelines. MATERIAL AND METHODS: A total of 151 tracings was evaluated by 27 clinicians from three centers where FIGO, ACOG and NICE guidelines were routinely used. Interobserver agreement was evaluated using the proportions of agreement (PA) and reliability with the kappa (k) statistic...
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
#8
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)...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27825584/autism-in-patients-with-propionic-acidemia
#9
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...
October 31, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27819172/deceleration-area-and-fetal-academia
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27780275/diagnostic-accuracy-of-the-figo-and-the-5-tier-fetal-heart-rate-classification-systems-in-the-detection-of-neonatal-acidemia
#14
Sabina Martí Gamboa, Olga Redrado Giménez, Jara Pascual Mancho, María Lapresta Moros, Julia Ruiz Sada, Sergio Castan Mateo
Objective The objective of this study was to determine ability to detect neonatal acidemia and interobserver agreement with the FIGO 3-tier and 5-tier fetal heart rate (FHR) classification systems. Design This was a case-control study. Setting This study was set at the University Medical Center. Population A total of 202 FHR tracings of 102 women who delivered an acidemic fetus (umbilical arterial cord gas pH ≤ 7.10 and BE < - 8) and 100 who delivered a nonacidemic fetus (umbilical arterial cord gas pH > 7...
October 25, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27779624/modulation-of-mitochondrial-function-by-the-microbiome-metabolite-propionic-acid-in-autism-and-control-cell-lines
#15
R E Frye, S Rose, J Chacko, R Wynne, S C Bennuri, J C Slattery, M Tippett, L Delhey, S Melnyk, S G Kahler, D F MacFabe
Propionic acid (PPA) is a ubiquitous short-chain fatty acid, which is a major fermentation product of the enteric microbiome. PPA is a normal intermediate of metabolism and is found in foods, either naturally or as a preservative. PPA and its derivatives have been implicated in both health and disease. Whereas PPA is an energy substrate and has many proposed beneficial effects, it is also associated with human disorders involving mitochondrial dysfunction, including propionic acidemia and autism spectrum disorders (ASDs)...
October 25, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27776753/comparison-of-methods-of-initial-ascertainment-in-58-cases-of-propionic-acidemia-enrolled-in-the-inborn-errors-of-metabolism-information-system-reveals-significant-differences-in-time-to-evaluation-and-symptoms-at-presentation
#16
Nicholas M McCrory, Mathew J Edick, Ayesha Ahmad, Susan Lipinski, Jessica A Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A Cameron, Susan A Berry, Loren D M Pena
OBJECTIVES: To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables. STUDY DESIGN: Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history...
October 21, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27771658/long-qtc-syndrome-and-propionic-acidemia
#17
Moises Rodriguez-Gonzalez, Ana Castellano-Martinez
No abstract text is available yet for this article.
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27769196/cardiotocography-in-breech-versus-vertex-delivery-an-examiner-blinded-cross-sectional-nested-case-control-study
#18
Elli Toivonen, Outi Palomäki, Heini Huhtala, Jukka Uotila
BACKGROUND: The safety of vaginal breech delivery has been debated for decades. Although it has been shown to predispose infants to immediate depression, several observational studies have also shown that attempting vaginal breech delivery does not increase perinatal morbidity or low Apgar score at the age of five minutes. Cardiotocography monitoring is recommended during vaginal breech delivery, but comparative data describing differences between cardiotocography tracings in breech and vertex deliveries is scarce...
October 21, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27756160/ph-base-deficit-or-lactate-which-is-better-for-predicting-neonatal-morbidity
#19
Sabina Martí Gamboa, Jara Pascual Mancho, María Rodrigo Rodríguez, Julia Ruiz Sada, Sergio Castán Mateo
OBJECTIVE: To determine which parameter of the umbilical arterial cord gas analysis, pH, base deficit (BD) or lactate has a bigger predictive ability for neonatal morbidity at term. METHOD: We conducted a four year retrospective cohort study including all non-anomalous, singleton, vertex, term births with neonatal acidemia (umbilical arterial cord gas pH ≤ 7.1). The primary outcomes were a composite neurological morbidity and a composite systemic morbidity. The predictive ability of lactate, BD and pH were compared using ROC curves...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27751795/the-limits-of-electronic-fetal-heart-rate-monitoring-in-the-prevention-of-neonatal-metabolic-acidemia
#20
Steven L Clark, Emily Hamilton, Thomas J Garite, Audra Timmins, Philip A Warrick, Samuel Smith
BACKGROUND: Despite intensive efforts directed at initial training in fetal heart rate interpretation, continuing medical education, board certification/recertification, team training and the development of specific protocols for the management of abnormal fetal heart rate patterns, the goals of consistently preventing hypoxia-induced fetal metabolic acidemia and neurologic injury remain elusive. OBJECTIVE: To validate a recently published algorithm for the management of category II fetal heart rate tracings , examine reasons for the birth of infants with significant metabolic acidemia despite the use of electronic fetal heart rate monitoring and critically examine the limits of EFHRM in the prevention of neonatal metabolic acidemia...
October 14, 2016: American Journal of Obstetrics and Gynecology
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