keyword
MENU ▼
Read by QxMD icon Read
search

metabolic encephalopathy

keyword
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#1
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27926647/central-fetal-monitoring-with-and-without-computer-analysis-a-randomized-controlled-trial
#2
Inês Nunes, Diogo Ayres-de-Campos, Austin Ugwumadu, Pina Amin, Philip Banfield, Antony Nicoll, Simon Cunningham, Paulo Sousa, Cristina Costa-Santos, João Bernardes
OBJECTIVE: To evaluate whether intrapartum fetal monitoring with computer analysis and real-time alerts decreases the rate of newborn metabolic acidosis or obstetric intervention when compared with visual analysis. METHODS: A randomized clinical trial carried out in five hospitals in the United Kingdom evaluated women with singleton, vertex fetuses of 36 weeks of gestation or greater during labor. Continuous central fetal monitoring by computer analysis and online alerts (experimental arm) was compared with visual analysis (control arm)...
December 2, 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#3
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#4
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27914525/protective-effects-of-huanglian-wendan-decoction-aganist-cognitive-deficits-and-neuronal-damages-in-rats-with-diabetic-encephalopathy-by-inhibiting-the-release-of-inflammatory-cytokines-and-repairing-insulin-signaling-pathway-in-hippocampus
#5
Yue-Bi Li, Wei-Hua Zhang, Hua-Dong Liu, Zhou Liu, Shi-Ping Ma
Huanglian Wendan decoction (HLWDD) has been used for the treatment of symptom of "Re", one of major causes in diabetes and metabolic disorders, according to the theory of traditional Chinese medicine. The present study aimed at investigating the cerebral protective effects of HLWDD on diabetic encephalopathy (DE), one of the major diabetic complications. The effects of HLWDD and metformin were analyzed in the streptozocin (STZ) + high-glucose-fat (HGF) diet-induced DE rats by gastric intubation. In the present study, the effects of HLWDD on cognition deficits were investigated after 30-day intervention at two daily dose levels (3 and 6 g·kg(-1))...
November 2016: Chinese Journal of Natural Medicines
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#6
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27905657/-toxic-encephalopathy-caused-by-liquefied-gas-exposure-report-of-one-case
#7
Luis Cartier R, Andrés Gallardo V
Liquefied hydrocarbon gas, such as propane is considered safe. However there are reports that voluntary exposure to liquefied gas at least could originate hallucinatory states. We report a 20 years old woman who was found in a coma with extensor muscle hypertonia, brisk tendon reflexes and extensor plantar (Babinski) responses after being exposed to propane gas. The brain magnetic resonance imaging (MRI) showed lesions in both hippocampi and white matter in the oval center. The patient had a normal oxygen saturation of 98%, a carboxyhemoglobin of 1...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#8
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27895414/hepatic-encephalopathy-ever-closer-to-its-big-bang
#9
EDITORIAL
Pablo A Souto, Ariel R Marcotegui, Lisandro Orbea, Juan Skerl, Juan Carlos Perazzo
Hepatic encephalopathy (HE) is a neuropsychiatric disorder that commonly complicates the course of patients with liver disease. Despite the fact that the syndrome was probably first recognized hundreds of years ago, the exact pathogenesis still remains unclear. Minimal hepatic encephalopathy (MHE) is the earliest form of HE and is estimated to affect more that 75% of patients with liver cirrhosis. It is characterized by cognitive impairment predominantly attention, reactiveness and integrative function with very subtle clinical manifestations...
November 14, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27890531/short-term-effects-of-diabetes-on-neurosteroidogenesis-in-the-rat-hippocampus
#10
Simone Romano, Nico Mitro, Silvia Diviccaro, Roberto Spezzano, Matteo Audano, Luis Miguel Garcia-Segura, Donatella Caruso, Roberto Cosimo Melcangi
Diabetes may induce neurophysiological and structural changes in the central nervous system (i.e., diabetic encephalopathy). We here explored whether the levels of neuroactive steroids (i.e., neuroprotective agents) in the hippocampus may be altered by short-term diabetes (i.e., one month). To this aim, by liquid chromatography-tandem mass spectrometry we observed that in the experimental model of the rat raised diabetic by streptozotocin injection, one month of pathology induced changes in the levels of several neuroactive steroids, such as pregnenolone, progesterone and its metabolites (i...
November 23, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27885636/glutamine-synthetase-role-in-neurological-disorders
#11
Arumugam R Jayakumar, Michael D Norenberg
Glutamine synthetase (GS) is an ATP-dependent enzyme found in most species that synthesizes glutamine from glutamate and ammonia. In brain, GS is exclusively located in astrocytes where it serves to maintain the glutamate-glutamine cycle, as well as nitrogen metabolism. Changes in the activity of GS, as well as its gene expression, along with excitotoxicity, have been identified in a number of neurological conditions. The literature describing alterations in the activation and gene expression of GS, as well as its involvement in different neurological disorders, however, is incomplete...
2016: Advances in Neurobiology
https://www.readbyqxmd.com/read/27863115/reversible-splenial-lesion-syndrome-with-a-hyperosmolar-hyperglycemic-state-and-neuroleptic-malignant-syndrome-caused-by-olanzapine
#12
Kenta Kaino, Ryo Kumagai, Shoko Furukawa, Momoko Isono, Aiko Muramatsu, Masanao Fujii, Yumiko Muta, Tomoyuki Asada, Kazuya Fujihara, Hiroaki Yagyu
A 27-year-old woman with panic disorder taking 20 mg olanzapine daily for 4 months was admitted to our hospital because of disturbed consciousness with fever, hyperglycemia, hyperosmolarity, and elevated creatine phosphokinase. She was diagnosed with a hyperosmolar hyperglycemic state (HHS) and neuroleptic malignant syndrome (NMS). Brain magnetic resonance imaging (MRI) showed transiently restricted diffusion in the splenium of the corpus callosum (SCC), with a high signal intensity on diffusion-weighted imaging...
November 18, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27860485/an-update-on-the-use-of-benzoate-phenylacetate-and-phenylbutyrate-ammonia-scavengers-for-interrogating-and-modifying-liver-nitrogen-metabolism-and-its-implications-in-urea-cycle-disorders-and-liver-disease
#13
Javier de Las Heras, Luis Aldámiz-Echevarría, María-Luz Martínez-Chantar, Teresa C Delgado
Ammonia-scavenging drugs, benzoate and phenylacetate (PA)/phenylbutyrate (PB), modulate hepatic nitrogen metabolism mainly by providing alternative pathways for nitrogen disposal. Areas Covered: We review the major findings and potential novel applications of ammonia-scavenging drugs, focusing on urea cycle disorders and liver disease. Expert Opinion: For over 40 years, ammonia-scavenging drugs have been used in the treatment of urea cycle disorders. Recently, the use of these compounds has been advocated in acute liver failure and cirrhosis for reducing hyperammonemic-induced hepatic encephalopathy...
November 18, 2016: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/27851321/1686-metabolic-acidosis-encephalopathy-and-hyperuricemia-as-initial-presentation-of-dka-in-an-infant
#14
Jillian Gregory, Sonali Basu
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27842952/-acute-arterial-thrombosis-in-a-context-of-hyperhomocysteinemia-case-report-and-literature-review
#15
G Raybaud, M Lambert, C Douillard, A F Dessein, S Morell-Dubois, M Guillou, S Haulon, P-Y Hatron
INTRODUCTION: Hyperhomocysteinemia is a biological marker that could be identified in the venous thrombotic events and rarely during acute arterial thrombotic events. The consequences can be serious. Effective diagnostic strategy is needed to optimize the management. CASE REPORT: Following bariatric surgery, a 40-year-old patient was admitted with an acute encephalopathy associated with peripheral lower limb arterial ischemia. The diagnostic work-up identified a major hyperhomocysteinemia whose causes were several...
November 11, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27834067/novel-pathogenic-variant-c-580c-t-in-the-cps1-gene-in-a-newborn-with-carbamoyl-phosphate-synthetase-1-deficiency-identified-by-whole-exome-sequencing
#16
Rihwa Choi, Hyung Doo Park, Mina Yang, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 μmol/L; reference range, 11.2-48.2 μmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 μmol/L; reference range, 131-710 μmol/L) and glutamine (5,777 μmol/L; reference range, 376-709 μmol/L), whereas that of citrulline was decreased (2 μmol/L; reference range, 10-45 μmol/L)...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27830356/successful-treatment-of-a-patient-with-ethylmalonic-encephalopathy-by-intravenous-n-acetylcysteine
#17
Mustafa Kılıç, Özge Dedeoğlu, Rahşan Göçmen, Selman Kesici, Deniz Yüksel
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay...
November 9, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27829172/disordered-app-metabolism-and-neurovasculature-in-trauma-and-aging-combined-risks-for-chronic-neurodegenerative-disorders
#18
REVIEW
Milos D Ikonomovic, Zhiping Mi, Eric E Abrahamson
Traumatic brain injury (TBI), advanced age, and cerebral vascular disease are factors conferring increased risk for late onset Alzheimer's disease (AD). These conditions are also related pathologically through multiple interacting mechanisms. The hallmark pathology of AD consists of pathological aggregates of amyloid-β (Aβ) peptides and tau proteins. These molecules are also involved in neuropathology of several other chronic neurodegenerative diseases, and are under intense investigation in the aftermath of TBI as potential contributors to the risk for developing AD and chronic traumatic encephalopathy (CTE)...
November 6, 2016: Ageing Research Reviews
https://www.readbyqxmd.com/read/27822667/organ-distribution-of-13-n-following-intravenous-injection-of-13-n-ammonia-into-portacaval-shunted-rats
#19
Nancy F Cruz, Gerald A Dienel, Patricia A Patrick, Arthur J L Cooper
Ammonia is neurotoxic, and chronic hyperammonemia is thought to be a major contributing factor to hepatic encephalopathy in patients with liver disease. Portacaval shunting of rats is used as an animal model to study the detrimental metabolic effects of elevated ammonia levels on body tissues, particularly brain and testes that are deleteriously targeted by high blood ammonia. In normal adult rats, the initial uptake of label (expressed as relative concentration) in these organs was relatively low following a bolus intravenous injection of [(13)N]ammonia compared with lungs, kidneys, liver, and some other organs...
November 8, 2016: Neurochemical Research
https://www.readbyqxmd.com/read/27809706/oxidative-stress-and-mitochondrial-dysfunction-linked-neurodegenerative-disorders
#20
Md Torequl Islam
Reactive species play an important role in physiological functions. Overproduction of reactive species, notably reactive oxygen (ROS) and nitrogen (RNS) species along with the failure of balance by the body's antioxidant enzyme systems results in destruction of cellular structures, lipids, proteins, and genetic materials such as DNA and RNA. Moreover, the effects of reactive species on mitochondria and their metabolic processes eventually cause a rise in ROS/RNS levels, leading to oxidation of mitochondrial proteins, lipids, and DNA...
November 3, 2016: Neurological Research
keyword
keyword
60467
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"