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metabolic encephalopathy

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https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#1
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29340149/acute-kidney-injury-due-to-multiple-hymenoptera-stings-a-clinicopathological-study
#2
Sanjay Vikrant, Anupam Parashar
Background: Acute kidney injury (AKI) after multiple Hymenoptera stings is well known but still a rare phenomenon. Methods: We conducted a retrospective study of the clinicopathological spectrum of AKI due to multiple Hymenoptera stings over 13 years (July 2003-June 2016). Results: A total of 35 patients were diagnosed with AKI due to multiple Hymenoptera stings. The mean age of the patients was 44.7 ± 17.4 years and the majority (60%) were men...
August 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29335023/early-neonatal-glutaric-aciduria-type-i-hidden-by-perinatal-asphyxia-a-case-report
#3
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported...
January 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29319893/possible-role-of-cyp2b6-genetic-polymorphisms-in-ifosfamide-induced-encephalopathy-report-of-three-cases
#4
Thomas Duflot, Aude Marie-Cardine, Céline Verstuyft, Bruno Filhon, Tony Pereira, Nathalie Massy Guillemant, Robinson Joannidès, Jérémy Bellien, Fabien Lamoureux
Ifosfamide (IFA) is a potent alkylating antitumoral agent but its use is limited by neurological side effects. IFA is a racemic mixture of two enantiomeric forms, R-IFA and S-IFA with a stereoselective metabolism by CYP3A4 and CYP2B6, leading either to bioactive or to toxic pathways. In 3 consecutive cases of pediatric patients who exhibited ifosfamide-induced encephalopathy (IIE), genotyping of clinically relevant single nucleotide polymorphisms associated with decreased CYP3A4 and CYP2B6 activities was performed...
January 10, 2018: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/29305757/metabolic-encephalopathy-behind-the-name
#5
Eelco F M Wijdicks
Metabolic encephalopathy may be the most common diagnosis in consultative acute neurology. The origin of this term is not generally known but can be traced back. The term replaced more commonly used designations such as organic or functional. The term metabolic encephalopathy was originally linked to organ dysfunction but subsequently became more imprecise. When it expanded to include a large number of diseases, it evolved to "metabolic neuronal dysfunction" and soon could not be distinguished from "quiet delirium" and other designations...
January 5, 2018: Neurocritical Care
https://www.readbyqxmd.com/read/29302033/loss-of-mtdna-activates-astrocytes-and-leads-to-spongiotic-encephalopathy
#6
Olesia Ignatenko, Dmitri Chilov, Ilse Paetau, Elena de Miguel, Christopher B Jackson, Gabrielle Capin, Anders Paetau, Mugen Terzioglu, Liliya Euro, Anu Suomalainen
Mitochondrial dysfunction manifests as different neurological diseases, but the mechanisms underlying the clinical variability remain poorly understood. To clarify whether different brain cells have differential sensitivity to mitochondrial dysfunction, we induced mitochondrial DNA (mtDNA) depletion in either neurons or astrocytes of mice, by inactivating Twinkle (TwKO), the replicative mtDNA helicase. Here we show that astrocytes, the most abundant cerebral cell type, are chronically activated upon mtDNA loss, leading to early-onset spongiotic degeneration of brain parenchyma, microgliosis and secondary neurodegeneration...
January 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29301550/role-of-the-indoleamine-2-3-dioxygenase-kynurenine-pathway-of-tryptophan-metabolism-in-behavioral-alterations-in-a-hepatic-encephalopathy-rat-model
#7
Xi Jiang, Lexing Xu, Lin Tang, Fuhe Liu, Ziwei Chen, Jiajia Zhang, Lei Chen, Cong Pang, Xuefeng Yu
BACKGROUND: This study aims to explore the role of indoleamine-2,3-dioxygenase (IDO)/kynurenine (KYN) pathway of tryptophan (TRY) metabolism in behavioral alterations observed in hepatic encephalopathy (HE) rats. METHODS: Expression levels of proinflammatory cytokines were tested by QT-PCR and ELISA, levels of IDOs were tested by QT-PCR and Western blot, and levels of 5-hydroxytryptamine (5-HT), KYN, TRY, 3-hydroxykynurenine (3-HK), and kynurenic acid (KA) in different brain regions were estimated using HPLC...
January 4, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29297947/loss-of-function-mutations-in-isca2-disrupt-4fe-4s-cluster-machinery-and-cause-a-fatal-leukodystrophy-with-hyperglycinemia-and-mtdna-depletion
#8
Joseph T Alaimo, Arnaud Besse, Charlotte L Alston, Ki Pang, Vivek Appadurai, Monisha Samanta, Patroula Smpokou, Robert McFarland, Robert W Taylor, Penelope E Bonnen
Iron-sulfur (Fe-S) clusters are essential co-factors for proteins that participate in fundamental cellular processes including metabolism, DNA replication and repair, transcriptional regulation, and the mitochondrial electron transport chain (ETC). ISCA2 plays a role in the biogenesis of Fe-S clusters and a recent report described subjects displaying infantile-onset leukodystrophy due to bi-allelic mutation of ISCA2. We present two additional unrelated cases, and provide a more complete clinical description that includes hyperglycinemia, leukodystrophy of the brainstem with longitudinally extensive spinal cord involvement, and mtDNA deficiency...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29295802/hydrocephalus-in-pyridoxine-dependent-epilepsy-new-case-and-literature-review
#9
Virginia Navarro-Abia, María Soriano-Ramos, Noemí Núñez-Enamorado, Ana Camacho-Salas, Ana Martinez-de Aragón, Elena Martín-Hernández, Rogelio Simón-de Las Heras
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29294552/-clinical-effect-of-electroencephalographic-biofeedback-therapy-in-treatment-of-memory-disorders-in-patients-with-acute-severe-toxic-encephalopathy
#10
M L Sun, D M Shi, J Wang, N Y Li, Y Tong
Objective: To investigate the clinical effect and safety of electroencephalographic biofeedback therapy in improving memory disorders in patientsin the recovery stage of acute severe toxic encephalopathy. Methods: A total of 52 patients in the recovery stage of acute severe toxic encephalopathy who were hospitalized in our hospital from March 2013 to December 2016 were enrolled and randomly divided into observation group with 27 patients and control group with 25 patients. Both groups were given the drugs to promote the metabolism of brain cells,and the patients in the observation group were given electroencephalographic biofeedback therapy in addition...
October 20, 2017: Chinese Journal of Industrial Hygiene and Occupational Diseases
https://www.readbyqxmd.com/read/29285771/endotoxemia-rocks-sphingolipid-metabolism-at-the-blood-brain-barrier-an-editorial-highlight-for-alteration-of-sphingolipid-metabolism-as-a-putative-mechanism-underlying-lps-induced-bbb-disruption-on-doi-10-1111-jnc-14236
#11
Eric Camerer
In this issue of the Journal of Neurochemistry, Vutukuri et al. evaluate the impact of endotoxemia-induced encephalopathy on the sphingosine-1-phosphate (S1P) signaling pathway at the blood-brain barrier (BBB). Four hours after intraperitoneal administration of lipopolysaccharides (LPS, 4 mg/kg) to mice, they first demonstrate BBB dysfunction and then evaluate changes in sphingolipid metabolites in serum, isolated brain microvessels (MBMV), and whole brain. In parallel, they investigate the fate of indicated S1P generating and metabolizing enzymes and S1P receptors in brain and MBMV...
December 28, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29285091/treatment-of-acute-intermittent-porphyria-during-pregnancy-and-posterior-reversible-encephalopathy-syndrome-after-delivery-a-case-report
#12
Jian Zhang, Yiting Hu, Jimin Zheng, Juncha Gao, Hongtao Hou, Na Liu, Yuzhen Wang
Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks. The present report describes the case of a pregnant woman with AIP. The patient was treated with heme-arginate during pregnancy and successfully delivered a healthy baby. Following delivery, the patient presented with PRES and experienced generalized seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29277168/subclinical-thiamine-deficiency-in-patients-with-abdominal-cancer
#13
Hideki Onishi, Mayumi Ishida, Iori Tanahashi, Takao Takahashi, Yoshitada Taji, Kenji Ikebuchi, Daisuke Furuya, Tatsuo Akechi
OBJECTIVE: Thiamine is an essential coenzyme for oxidative metabolisms; however, it is not synthesized in the human body, and the average thiamine storage capacity is approximately 18 days. Therefore, thiamine deficiency (TD) can occur in any condition of unbalanced nutrition. If TD is left untreated, it causes the neuropsychiatric disorder Wernicke encephalopathy (WE). Although WE is a medical emergency, it is sometimes overlooked because most patients with WE do not exhibit all of the typical symptoms, including delirium, ataxia, and ophthalmoplegia...
December 26, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/29259793/effect-of-physical-exercise-on-sarcopaenia-in-patients-with-overt-hepatic-encephalopathy-a-study-protocol-for-a-randomised-controlled-trial
#14
Kazunori Yoh, Hiroki Nishikawa, Hirayuki Enomoto, Yoshinori Iwata, Akio Ishii, Yukihisa Yuri, Noriko Ishii, Yuho Miyamoto, Kunihiro Hasegawa, Chikage Nakano, Ryo Takata, Takashi Nishimura, Nobuhiro Aizawa, Yoshiyuki Sakai, Naoto Ikeda, Tomoyuki Takashima, Hiroko Iijima, Shuhei Nishiguchi
Introduction: Limited data are currently available for patients with overt hepatic encephalopathy (OHE)) receiving physical exercise (PE). The aim of the current study is to prospectively examine the effect of PE on sarcopaenia in patients with OHE. Methods and analysis: At the time of patient recruitment, a precise assessment for nutritional status and daily physical activities will be performed in each subject. Study participants will be randomly assigned into two groups: (1) the PE group and (2) the control group...
2017: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/29234303/a-study-of-super-refractory-status-epilepticus-from-india
#15
Usha K Misra, Jayantee Kalita, Deepanshu Dubey
Background: Super refractory status epilepticus (SRSE) is an important and recently recognized neurological emergency. Purpose: In view of paucity of studies on SRSE, we report the frequency, etiology and outcome of SRSE. Methods: In a hospital-based observational study during 2013 to 2016, consecutive patients with SRSE [persistence of status epilepticus (SE) for 24 h or more, or recurrence of SE on weaning of intravenous anesthetic] were included...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29234200/nutrition-and-muscle-in-cirrhosis
#16
REVIEW
Anil C Anand
As the cirrhosis progresses, development of complication like ascites, hepatic encephalopathy, variceal bleeding, kidney dysfunction, and hepatocellular carcinoma signify increasing risk of short term mortality. Malnutrition and muscle wasting (sarcopenia) is yet other complications that negatively impact survival, quality of life, and response to stressors, such as infection and surgery in patients with cirrhosis. Conventionally, these are not routinely looked for, because nutritional assessment can be a difficult especially if there is associated fluid retention and/or obesity...
December 2017: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/29227269/reye-ray-s-syndrome-a-problem-everyone-should-remember
#17
I Chornomydz, O Boyarchuk, A Chornomydz
Reye syndrome is a rare but a very dangerous emergency that children and teenagers suffer. This threatening condition occurs during the treatment of fever in the clinical course of viral diseases with drugs containing acetylsalicylic acid and other salicylates. The high mortality rate from this disease is associated with the development of a rapidly progressing toxic encephalopathy and hepatic insufficiency. The etiology and pathogenesis of the Reye syndrome, despite the large number of investigations, is not clear enough...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29213095/evolution-of-energy-related-metabolites-in-plasma-from-newborns-with-hypoxic-ischemic-encephalopathy-during-hypothermia-treatment
#18
Ángel Sánchez-Illana, Antonio Núñez-Ramiro, María Cernada, Anna Parra-Llorca, Eva Valverde, Dorotea Blanco, Maria Teresa Moral-Pumarega, Fernando Cabañas, Hector Boix, Antonio Pavon, Mercedes Chaffanel, Isabel Benavente-Fernández, Inés Tofe, Begoña Loureiro, José R Fernández-Lorenzo, Belén Fernández-Colomer, Ana García-Robles, Julia Kuligowski, Máximo Vento
Therapeutic hypothermia (TH) initiated within 6 h from birth is the most effective therapeutic approach for moderate to severe hypoxic-ischemic encephalopathy (HIE). However, underlying mechanisms and effects on the human metabolism are not yet fully understood. This work aims at studying the evolution of several energy related key metabolites in newborns with HIE undergoing TH employing gas chromatography - mass spectrometry. The method was validated following stringent FDA requirements and applied to 194 samples from a subgroup of newborns with HIE (N = 61) enrolled in a multicenter clinical trial (HYPOTOP) for the determination of lactate, pyruvate, ketone bodies and several Krebs cycle metabolites at different sampling time points...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#19
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29204204/thiamine-responsive-pyruvate-dehydrogenase-complex-deficiency-a-potentially-treatable-cause-of-leigh-s-disease
#20
Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive...
July 2017: Journal of Pediatric Neurosciences
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