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https://www.readbyqxmd.com/read/28302933/essential-tremor-with-aspartic-acidemia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
March 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28275552/dietary-practices-in-isovaleric-acidemia-a-european-survey
#7
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
#8
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
#9
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
#10
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...
February 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28229311/prevalence-of-frailty-in-end-stage-renal-disease-a-systematic-review-and-meta-analysis
#11
REVIEW
Gotaro Kojima
PURPOSE: The purpose of this study is to perform a systematic review and meta-analysis on prevalence of frailty among patients with end-stage renal disease (ESRD). ESRD is associated with malnutrition, chronic inflammation, acidemia, impaired hormonal changes, and low physical activity, all of which can directly and indirectly contribute to the development of frailty. Coexistence of ESRD and frailty has been shown to increase risks of adverse health outcomes. Given potential reversibility of frailty, it is important to examine frailty status in this high-risk population...
February 22, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28223158/aminoguanidine-alleviated-mma-induced-impairment-of-cognitive-ability-in-rats-by-downregulating-oxidative-stress-and-inflammatory-reaction
#12
Qiliang Li, Wenqi Song, Ze Tian, Peichang Wang
Methylmalonic acidemia (MMA) is the most common organic acidemia in childhood. Many "treated" patients continued to display various degrees of mental retardation and psychomotor delay, which could be caused by brain damage from elevated oxidative stress. Aminoguanidine (AG), a synthetic antioxidant, was tested in a MMA rat model for its potential therapeutic effects on memory impairment. The effects of AG on MMA-induced cognitive impairment in Wistar rats were evaluated with Morris Water Maze. The levels of nerve cell apoptosis and microglial activation were investigated to illustrate the mechanisms of the improvement of cognition with AG treatment in MMA rats...
February 13, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28206825/letter-in-response-to-efficiency-of-acidemia-correction-on-intermittent-versus-continuous-hemodialysis-in-acute-methanol-poisoning
#13
Lindsay M Fox, Mark K Su, Lewis R Goldfrank
No abstract text is available yet for this article.
April 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28206824/reply-to-letter-in-response-to-efficiency-of-acidemia-correction-on-intermittent-versus-continuous-hemodialysis-in-acute-methanol-poisoning
#14
Sergey Zakharov, Darren M Roberts, Knut Erik Hovda
No abstract text is available yet for this article.
April 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28194286/central-venous-catheter-related-bloodstream-infection-with-kocuria-kristinae-in-a-patient-with-propionic-acidemia
#15
Masato Kimura, Eichiro Kawai, Hisao Yaoita, Natsuko Ichinoi, Osamu Sakamoto, Shigeo Kure
Kocuria kristinae is a catalase-positive, coagulase-negative, Gram-positive coccus found in the environment and in normal skin and mucosa in humans; however, it is rarely isolated from clinical specimens and is considered a nonpathogenic bacterium. We describe a case of catheter-related bacteremia due to K. kristinae in a young adult with propionic acidemia undergoing periodic hemodialysis. The patient had a central venous catheter implanted for total parenteral nutrition approximately 6 months prior to the onset of symptoms because of repeated acute pancreatitis...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28189105/determination-of-methylmalonyl-coenzyme-a-by-ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry-for-measuring-propionyl-coenzyme-a-carboxylase-activity-in-patients-with-propionic-acidemia
#16
Kana Gotoh, Yoko Nakajima, Go Tajima, Yoriko Watanabe, Yuji Hotta, Tomoya Kataoka, Yoshihiro Kawade, Naruji Sugiyama, Tetsuya Ito, Kazunori Kimura, Yasuhiro Maeda
Propionic acidemia (PA) is an inherited metabolic disease caused by low activity of propionyl coenzyme A (CoA) carboxylase (PCC), which metabolizes propionyl-CoA into methylmalonyl-CoA. Although many patients with PA have been identified by tandem mass spectrometry since the test was first included in neonatal mass screening in the 1990s, the disease severity varies. Thus, determining the specific level of PCC activity is considered to be helpful to grasp the severity of PA. We developed a new PCC assay method by the determination of methylmalonyl-CoA, which is formed by an enzyme reaction using peripheral lymphocytes, based on ultra high-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS)...
February 6, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28165820/leukotriene-mediated-neuroinflammation-toxic-brain-damage-and-neurodegeneration-in-acute-methanol-poisoning
#17
Sergey Zakharov, Katerina Kotikova, Olga Nurieva, Jiri Hlusicka, Petr Kacer, Pavel Urban, Manuela Vaneckova, Zdenek Seidl, Pavel Diblik, Pavel Kuthan, Tomas Navratil, Daniela Pelclova
CONTEXT: The role of neuroinflammation in methanol-induced toxic brain damage has not been studied. OBJECTIVE: We studied acute concentrations and the dynamics of leukotrienes (LT) in serum in hospitalized patients with acute methanol poisoning and in survivors. METHODS: Series of acute cysteinyl-LT and LTB4 concentration measurements were performed in 28/101 hospitalized patients (mean observation time: 88 ± 20 h). In 36 survivors, control LT measurements were performed 2 years after discharge...
April 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28153297/detection-of-inborn-errors-of-metabolism-utilizing-gc-ms-urinary-metabolomics-coupled-with-a-modified-orthogonal-partial-least-squares-discriminant-analysis
#18
Qin Yang, Shan-Shan Lin, Jiang-Tao Yang, Li-Juan Tang, Ru-Qin Yu
GC-MS urinary metabolomic analysis coupled with chemometrics is used to detect inborn errors of metabolism (IEMs), which are genetic disorders causing severe mental and physical debility and even sudden infant death. Orthogonal partial least squares discriminant analysis (OPLS-DA) is an efficient multivariate statistical method that conducts data analysis of metabolite profiling. However, performance degradation is often observed for OPLS-DA due to increasing size and complexity of metabolomic datasets. In this study, hybrid particle swarm optimization (HPSO) is employed to modify OPLS-DA by simultaneously selecting the optimal variable subset, associated weights and the appropriate number of orthogonal components, constructing a new algorithm called HPSO-OPLSDA...
April 1, 2017: Talanta
https://www.readbyqxmd.com/read/28141776/acute-illness-protocol-for-organic-acidemias-methylmalonic-acidemia-and-propionic-acidemia
#19
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physicians, pediatricians, internists, and critical care physicians as well as biochemical geneticists to be familiar with the initial assessment and management of patients with these disorders...
February 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28118413/a-double-blinded-randomized-comparison-of-medetomidine-tiletamine-zolazepam-and-dexmedetomidine-tiletamine-zolazepam-anesthesia-in-free-ranging-brown-bears-ursus-arctos
#20
Núria Fandos Esteruelas, Marc Cattet, Andreas Zedrosser, Gordon B Stenhouse, Susanne Küker, Alina L Evans, Jon M Arnemo
We compared anesthetic features, blood parameters, and physiological responses to either medetomidine-tiletamine-zolazepam or dexmedetomidine-tiletamine-zolazepam using a double-blinded, randomized experimental design during 40 anesthetic events of free-ranging brown bears (Ursus arctos) either captured by helicopter in Sweden or by culvert trap in Canada. Induction was smooth and predictable with both anesthetic protocols. Induction time, the need for supplemental drugs to sustain anesthesia, and capture-related stress were analyzed using generalized linear models, but anesthetic protocol did not differentially affect these variables...
2017: PloS One
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