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https://www.readbyqxmd.com/read/28725183/bile-acid-mediated-sphingosine-1-phosphate-receptor-2-signaling-promotes-neuroinflammation-during-hepatic-encephalopathy-in-mice
#1
Matthew McMillin, Gabriel Frampton, Stephanie Grant, Shamyal Khan, Juan Diocares, Anca Petrescu, Amy Wyatt, Jessica Kain, Brandi Jefferson, Sharon DeMorrow
Hepatic encephalopathy (HE) is a neuropsychiatric complication that occurs due to deteriorating hepatic function and this syndrome influences patient quality of life, clinical management strategies and survival. During acute liver failure, circulating bile acids increase due to a disruption of the enterohepatic circulation. We previously identified that bile acid-mediated signaling occurs in the brain during HE and contributes to cognitive impairment. However, the influences of bile acids and their downstream signaling pathways on HE-induced neuroinflammation have not been assessed...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28722418/urine-metabonomics-reveals-early-biomarkers-in-diabetic-cognitive-dysfunction
#2
Lili Song, Pengwei Zhuang, Mengya Lin, Mingqin Kang, Hongyue Liu, Yuping Zhang, Zhen Yang, Yunlong Chen, Yanjun Zhang
Recently, increasing attention has been paid to diabetic encephalopathy which is one of frequent diabetic complications and affects nearly 30% diabetics. Since cognitive dysfunction from diabetic encephalopathy might develop irreversible dementia, early diagnosis and detection of this disease is of great significance for its prevention and treatment. This study is to investigate the early specific metabolites biomarkers in the urine prior to the onset of diabetic cognitive dysfunction (DCD) by using metabolomics technology...
July 19, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#3
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28718068/dengue-encephalopathy-very-unusual-neuroimaging-findings
#4
Ravindra Kumar Garg, Hardeep Singh Malhotra, Amita Jain, Neeraj Kumar
Neuroimaging, in many patients with dengue encephalopathy, may reveal periventricular signal changes. We report a 25-year-old man, who presented with altered sensorium. Dengue-IgM test in serum was positive. Cerebrospinal fluid examination was normal. MRI brain revealed presence of bilateral parieto-occipital intraparenchymal bleed with mass effect. Neuroimaging was consistent with posterior reversible encephalopathy syndrome. We report posterior reversible encephalopathy syndrome in a normotensive patient with dengue encephalopathy and systemic metabolic alterations...
July 17, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#5
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28707493/ab-chminaca-induced-sudden-death-from-non-cardiogenic-pulmonary-edema
#6
Hideyuki Maeda, Ruri Kikura-Hanajiri, Maiko Kawamura, Erika Nagashima, Ken-Ichi Yoshida
CONTEXT: Despite widespread use of diverse synthetic cannabinoid (sCB) compounds, the pathophysiology associated with intoxication with many sCB compounds, including AB-CHMINACA, is poorly understood, as is their metabolism and distribution into blood and organs. CASE DETAILS: A young man died shortly after ingesting an herb product containing sCB compounds. Toxicological analyses of blood samples revealed high levels of AB-CHMINACA (7.61 ± 0.59 ng/mL) and its metabolites (M2, 56...
July 14, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28704077/the-assessment-and-care-of-patients-with-hepatic-encephalopathy
#7
Palle Bager
This article provides an overview of the metabolic brain dysfunction hepatic encephalopathy (HE). HE is caused by severe liver cirrhosis and patients will often be treated in a liver unit, but patients with symptoms of HE may require nursing care anywhere in the healthcare system. Therefore it is beneficial for all nurses to have a basic knowledge of HE and this article explains the symptoms and treatment. Possible differential diagnoses are presented, as well as factors that can trigger episodes of HE. Both patients' and relatives' experiences are examined...
July 13, 2017: British Journal of Nursing: BJN
https://www.readbyqxmd.com/read/28703134/genetic-variants-underlying-vitamin-d-metabolism-and-vdr-tgf%C3%AE-1-smad3-interaction-may-impact-on-hcv-progression-a-study-based-on-dbgap-data-from-the-halt-c-study
#8
Laura A de Azevedo, Ursula Matte, Themis R da Silveira, Mário R Álvares-da-Silva
Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT-C study followed 692 chronic HCV patients over 4 years, evaluating clinical outcomes including worsening of fibrosis, hepatic decompensation (gastric/esophageal bleeding, CTP>7, ascites, spontaneous bacterial peritonitis and encephalopathy), development of hepatocellular carcinoma, and liver death...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28673551/analyses-of-slc13a5-epilepsy-patients-reveal-perturbations-of-tca-cycle
#9
Matthew N Bainbridge, Erin Cooney, Marcus Miller, Adam D Kennedy, Jacob E Wulff, Taraka Donti, Shalini N Jhangiani, Richard A Gibbs, Sarah H Elsea, Brenda E Porter, Brett H Graham
OBJECTIVE: To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay. METHODS: Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects. RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain...
June 24, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28663066/successful-management-of-acute-liver-failure-in-italian-children-a-16-year-experience-at-a-referral-centre-for-paediatric-liver-transplantation
#10
A Di Giorgio, A Sonzogni, A Piccichè, G Alessio, E Bonanomi, M Colledan, L D'Antiga
BACKGROUND: Identifying the causes of acute liver failure (ALF) and predictors of death or liver transplantation (LTX) is crucial to decide its management. We aimed to describe features and outcome of ALF in Italian children. METHODS: Retrospective review of cases presenting between 1996-2012. ALF was defined by high transaminases, INR ≥2.0 regardless of hepatic encephalopathy (HE), no evidence of underlying chronic liver disease. RESULTS: 55 children (median age 2...
June 12, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28649875/potential-benefits-of-zolpidem-in-disorders-of-consciousness
#11
Afsaneh Noormandi, Maryam Shahrokhi, Hossein Khalili
It has been suggested that zolpidem may arouse patients with decreased level of consciousness. Zolpidem may partially or even completely reverse abnormal cell metabolism following brain damage. In this article, available evidences regarding effects of zolpidem on disorders of consciousnesswere reviewed. Areas covered: A literature review was conducted using PubMed, Scopus, Medline, Cochrane central register of controlled trials, Cochrane database systematic reviews and Google scholar as online databases. Search Keywords were 'vegetative state','minimally conscious state','semi-comatose', 'arousal', 'zolpidem', 'wakefulness', 'awareness', and 'loss of consciousness'...
June 26, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28649556/successful-pregnancy-and-delivery-in-a-woman-with-propionic-acidemia-from-the-amish-community
#12
Jessica Scott Schwoerer, Sandra van Calcar, Gregory M Rice, James Deline
Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649286/autism-spectrum-disorder-and-epileptic-encephalopathy-common-causes-many-questions
#13
REVIEW
Siddharth Srivastava, Mustafa Sahin
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28648366/-oxidative-stress-in-perinatal-asphyxia-and-hypoxic-ischaemic-encephalopathy
#14
Antonio Nuñez, Isabel Benavente, Dorotea Blanco, Héctor Boix, Fernando Cabañas, Mercedes Chaffanel, Belén Fernández-Colomer, José Ramón Fernández-Lorenzo, Begoña Loureiro, María Teresa Moral, Antonio Pavón, Inés Tofé, Eva Valverde, Máximo Vento
Birth asphyxia is one of the principal causes of early neonatal death. In survivors it may evolve to hypoxic-ischaemic encephalopathy and major long-term neurological morbidity. Prolonged and intense asphyxia will lead to energy exhaustion in tissues exclusively dependent on aerobic metabolism, such as the central nervous system. Energy deficit leads to ATP-dependent pumps blockage, with the subsequent loss of neuronal transmembrane potential. The most sensitive areas of the brain will die due to necrosis. In more resistant areas, neuronal hyper-excitability, massive entrance of ionic calcium, activation of NO-synthase, free radical generation, and alteration in mitochondrial metabolism will lead to a secondary energy failure and programmed neuronal death by means of the activation of the caspase pathways...
June 22, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#15
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28642818/nivolumab-as-salvage-treatment-in-a-patient-with-hiv-related-relapsed-refractory-hodgkin-lymphoma-and-liver-failure-with-encephalopathy
#16
Jose D Sandoval-Sus, Francis Mogollon-Duffo, Ankita Patel, Nathan Visweshwar, Damian A Laber, Richard Kim, Michael V Jagal
BACKGROUND: We report the first case to our knowledge of a patient with relapsed/refractory classical hodgkin lymphoma and liver failure with encephalopathy along with human immunodeficiency virus/acquired immunodeficiency syndrome infection, successfully treated with nivolumab without major side effects and encouraging prolonged disease control. CASE PRESENTATION: In December 2015, at the time of the patient's progression from his Hodgkin lymphoma after fourth line treatment, he developed persistent fevers, abdominal distension, jaundice and worsening of his liver function tests...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28640662/using-probiotics-in-clinical-practice-where-are-we-now-a-review-of-existing-meta-analyses
#17
Mariangela Rondanelli, Milena Anna Faliva, Simone Perna, Attilio Giacosa, Gabriella Peroni, Anna Maria Castellazzi
The scientific literature has demonstrated that probiotics have a broad spectrum of activity, although often the results are contradictory. This study provides a critical overview of the current meta-analyses that have evaluated the efficacy of probiotics in physiologic and pathological conditions, such as metabolic disease, antibiotic-associated and Clostridium difficile-associated diarrhea, IBS, constipation, IBD, chemotherapy-associated diarrhea, respiratory tract infection, ventilator-associated pneumonia, NAFLD, liver encephalopathy, periodontitis, depression, vaginosis, urinary tract infections, pancreatitis, incidence of ventilator-associated pneumonia, hospital infection and stay in ICU, mortality of post-trauma patients, necrotising enterocolitis in premature infants...
June 22, 2017: Gut Microbes
https://www.readbyqxmd.com/read/28622071/survival-in-out-of-hospital-rapid-sequence-intubation-of-non-traumatic-brain-pathologies
#18
Pieter Francsois Fouche, Paul Andrew Jennings, Karen Smith, Malcolm Boyle, Gabriel Blecher, Jonathan Knott, Mani Raji, Pamela Rosengarten, Michael Roberto Augello, Stephen Bernard
INTRODUCTION: Rapid sequence intubation (RSI) is not only used in traumatic brain injuries in the out-of-hospital setting, but also for non-traumatic brain pathologies (NTBP) such as brain tumors, meningitis, encephalitis, hypoxic/anoxic brain injury, stroke, arteriovenous malformations, tumors, aneurysms, brain hemorrhage, as well as brain injury due to diabetes, seizures and toxicity, metabolic conditions, and alcohol and drug overdose. Previous research suggests that RSI is common in non-traumatic coma, but with an unknown prevalence of NTBP in those that receive RSI...
June 16, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28621620/deep-brain-stimulation-for-the-early-treatment-of-the-minimally-conscious-state-and-vegetative-state-experience-in-14-patients
#19
Darko Chudy, Vedran Deletis, Fadi Almahariq, Petar Marčinković, Jasenka Škrlin, Veronika Paradžik
OBJECTIVE An effective treatment of patients in a minimally conscious state (MCS) or vegetative state (VS) caused by hypoxic encephalopathy or traumatic brain injury (TBI) is not yet available. Deep brain stimulation (DBS) of the thalamic reticular nuclei has been attempted as a therapeutic procedure mainly in patients with TBI. The purpose of this study was to investigate the therapeutic use of DBS for patients in VS or MCS. METHODS Fourteen of 49 patients in VS or MCS qualified for inclusion in this study and underwent DBS...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28620281/inhibition-of-the-mitochondrial-glutamate-carrier-slc25a22-in-astrocytes-leads-to-intracellular-glutamate-accumulation
#20
Emmanuelle Goubert, Yanina Mircheva, Francesco M Lasorsa, Christophe Melon, Emanuela Profilo, Julie Sutera, Hélène Becq, Ferdinando Palmieri, Luigi Palmieri, Laurent Aniksztejn, Florence Molinari
The solute carrier family 25 (SLC25) drives the import of a large diversity of metabolites into mitochondria, a key cellular structure involved in many metabolic functions. Mutations of the mitochondrial glutamate carrier SLC25A22 (also named GC1) have been identified in early epileptic encephalopathy (EEE) and migrating partial seizures in infancy (MPSI) but the pathophysiological mechanism of GC1 deficiency is still unknown, hampered by the absence of an in vivo model. This carrier is mainly expressed in astrocytes and is the principal gate for glutamate entry into mitochondria...
2017: Frontiers in Cellular Neuroscience
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