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https://www.readbyqxmd.com/read/28326890/functional-and-molecular-correlates-following-single-and-repeated-rat-closed-head-concussion-indices-of-vulnerability-following-brain-injury
#1
Andrea Mountney, Angela Boutte, Casandra M Cartagena, William J Flerlage, David Johnson, Chanyang Rho, Xi-Chun M Lu, Angela M Yarnell, Sean R Marcsisin, Jason Sousa, Chau Vuong, Victor E Zottig, Lai Yee Leung, Ying Deng-Bryant, Janice Gilsdorf, Frank C Tortella, Deborah A Shear
Closed-head concussive injury is one of the most common causes of traumatic brain injury (TBI). Isolated concussions frequently produce acute neurological impairments; however, individuals typically recover spontaneously within a short time frame. In contrast, brain injuries resulting from multiple concussions can result in cumulative damage and elevated risk of developing chronic brain pathologies, including chronic traumatic encephalopathy (CTE). Increased attention has focused on identification of diagnostic markers that can prognostically serve as indices of brain health after injury, revealing the temporal profile of vulnerability to a second insult...
March 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28325525/clinical-heterogeneity-of-glycine-encephalopathy-in-three-palestinian-siblings-a-novel-mutation-in-the-glycine-decarboxylase-gldc-gene
#2
Waseem Khraim, Bassam Abu-Libdeh, Suhail Ayesh, Imad Dweikat
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical manifestations vary from severe lethargy, hypoactivity and apneic episodes in the neonatal form, mild or moderate psychomotor delay and seizures in the infantile form, and abnormal behaviors, ataxia and choreoathetoid movements in late onset form...
March 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28321276/phase-angle-obtained-by-bioelectrical-impedance-analysis-independently-predicts-mortality-in-patients-with-cirrhosis
#3
Giliane Belarmino, Maria Cristina Gonzalez, Raquel S Torrinhas, Priscila Sala, Wellington Andraus, Luiz Augusto Carneiro D'Albuquerque, Rosa Maria R Pereira, Valéria F Caparbo, Graziela R Ravacci, Lucas Damiani, Steven B Heymsfield, Dan L Waitzberg
AIM: To evaluate the prognostic value of the phase angle (PA) obtained from bioelectrical impedance analysis (BIA) for mortality prediction in patients with cirrhosis. METHODS: In total, 134 male cirrhotic patients prospectively completed clinical evaluations and nutritional assessment by BIA to obtain PAs during a 36-mo follow-up period. Mortality risk was analyzed by applying the PA cutoff point recently proposed as a malnutrition marker (PA ≤ 4.9°) in Kaplan-Meier curves and multivariate Cox regression models...
March 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28321275/features-of-hepatocellular-carcinoma-in-hispanics-differ-from-african-americans-and-non-hispanic-whites
#4
Neeta K Venepalli, Mary V Modayil, Stephanie A Berg, Tad D Nair, Mayur Parepally, Priyanka Rajaram, Ron C Gaba, James T Bui, Yue Huang, Scott J Cotler
AIM: To compare features of hepatocellular carcinoma (HCC) in Hispanics to those of African Americans and Whites. METHODS: Patients treated for HCC at an urban tertiary medical center from 2005 to 2011 were identified from a tumor registry. Data were collected retrospectively, including demographics, comorbidities, liver disease characteristics, tumor parameters, treatment, and survival (OS) outcomes. OS analyses were performed using Kaplan-Meier method. RESULTS: One hundred and ninety-five patients with HCC were identified: 80...
March 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28302353/epileptic-seizures-as-the-first-symptom-of-wernicke-s-encephalopathy-with-cerebral-cortical-lesions
#5
Kailei Fu, Li Tian, Weishuang Xue, Weiyu Teng
Wernicke's encephalopathy (WE) is acute metabolic disease of the central nervous system caused by deficiency of thiamine. Typical imaging findings are bilateral and symmetric signal in mammillary bodies, medial thalamus and periaqueductal gray. We present a 45-year-old man diagnosed for WE with two seizures and unconsciousness. The magnetic resonance imaging showed bilateral and symmetrical signal hyper-intensities in the frontal and parietal cortex, in addition to the classical MRI findings of WE. Cortical damage in WE is rare...
March 13, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28302194/-clinical-and-molecular-genetic-study-of-nonketotic-hyperglycinemia-in-a-chinese-family
#6
Zhi-Jie Gao, Qian Jiang, Qian Chen, Ke-Ming Xu
Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images indicated a poor development of corpus callosum, and a burst suppression pattern was found in the EEG...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28299359/aifm1-mutation-presenting-with-fatal-encephalomyopathy-and-mitochondrial-disease-in-an-infant
#7
Sarah U Morton, Sanjay P Prabhu, Hart G W Lidov, Jiahai Shi, Irina Anselm, Catherine A Brownstein, Matthew N Bainbridge, Alan H Beggs, Sara O Vargas, Pankaj B Agrawal
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28294976/vitamins-and-microelement-bioavailability-in-different-stages-of-chronic-kidney-disease
#8
REVIEW
Magdalena Jankowska, Bolesław Rutkowski, Alicja Dębska-Ślizień
Chronic kidney disease (CKD) predisposes one to either deficiency or toxic excess of different micronutrients. The knowledge on micronutrients-specifically water-soluble vitamins and trace elements-in CKD is very limited. Consequently, current guidelines and recommendations are mostly based on expert opinions or poor-quality evidence. Abnormalities of micronutrient resources in CKD develop for several reasons. Dietary restrictions and anorexia lead to an insufficient micronutrient intake, while diuretics use and renal replacement therapy lead to their excessive losses...
March 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28294542/pras40-alleviates-neurotoxic-prion-peptide-induced-apoptosis-via-mtor-akt-signaling
#9
Wei Yang, Li-Feng Yang, Zhi-Qi Song, Syed Zahid Ali Shah, Yong-Yong Cui, Chao-Si Li, Hua-Fen Zhao, Hong-Li Gao, Xiang-Mei Zhou, De-Ming Zhao
AIMS: The proline-rich Akt substrate of 40-kDa (PRAS40) protein is a direct inhibitor of mTORC1 and an interactive linker between the Akt and mTOR pathways. The mammalian target of rapamycin (mTOR) is considered to be a central regulator of cell growth and metabolism. Several investigations have demonstrated that abnormal mTOR activity may contribute to the pathogenesis of several neurodegenerative disorders and lead to cognitive deficits. METHODS: Here, we used the PrP peptide 106-126 (PrP(106-126) ) in a cell model of prion diseases (also known as transmissible spongiform encephalopathies, TSEs) to investigate the mechanisms of mTOR-mediated cell death in prion diseases...
March 14, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28290153/viral-infections-and-obesity
#10
REVIEW
Jameson D Voss, Nikhil V Dhurandhar
PURPOSE OF REVIEW: Obesity is a multifactorial disease that is now endemic throughout most of the world. Although addressing proximate causes of obesity (excess energy intake and reduced energy expenditure) have been longstanding global health priorities, the problem has continued to worsen at the global level. RECENT FINDINGS: Numerous microbial agents cause obesity in various experimental models-a phenomena known as infectobesity. Several of the same agents alter metabolic function in human cells and are associated with human obesity or metabolic dysfunction in humans...
March 13, 2017: Current Obesity Reports
https://www.readbyqxmd.com/read/28288363/the-role-of-postictal-laboratory-blood-analyses-in-the-diagnosis-and-prognosis-of-seizures
#11
REVIEW
Robert D Nass, Robert Sassen, Christian E Elger, Rainer Surges
BACKGROUND: Epileptic seizures (ES) lead to alterations in the blood laboratory values and reflect changes in different organ systems. Here, we review the diagnostic and prognostic value of various blood laboratory values within the context of epilepsy. METHODS: Narrative review and literature search on PubMed using the term, "seizure" and various laboratory values. RESULTS: Laboratory markers can help clinicians determine whether an unwitnessed event was more likely to be epileptic or non-epileptic...
February 27, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28284465/neurological-disorders-in-liver-transplant-candidates-pathophysiology-and-clinical-assessment
#12
REVIEW
Paolo Feltracco, Annachiara Cagnin, Cristiana Carollo, Stefania Barbieri, Carlo Ori
Compromised liver function, as a consequence of acute liver insufficiency or severe chronic liver disease may be associated with various neurological syndromes, which involve both central and peripheral nervous system. Acute and severe hyperammoniemia inducing cellular metabolic alterations, prolonged state of "neuroinflammation", activation of brain microglia, accumulation of manganese and ammonia, and systemic inflammation are the main causative factors of brain damage in liver failure. The most widely recognized neurological complications of serious hepatocellular failure include hepatic encephalopathy, diffuse cerebral edema, Wilson disease, hepatic myelopathy, acquired hepatocerebral degeneration, cirrhosis-related Parkinsonism and osmotic demyelination syndrome...
February 27, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28283555/developmental-genetic-dietary-and-xenobiotic-influences-on-neonatal-hyperbilirubinemia
#13
Mei-Fei Yueh, Shujuan Chen, Nghia Nguyen, Robert H Tukey
Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns. Owing to the fact that bilirubin is metabolized solely through glucuronidation by UDP-glucuronosyltransferase (UGT) 1A1, it is now known that immaturity of UGT1A1 in combination with overproduction of bilirubin during the developmental stage acts as a bottleneck to bilirubin elimination and predisposes the infant to high TBS levels. While neonatal jaundice is mostly benign, excessively high levels of serum bilirubin in a small percentage of newborns can cause bilirubin-induced neurologic dysfunction (BIND), potentially leading to permanent brain damage, a condition known as kernicterus...
March 10, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28281899/targeting-cps1-in-the-treatment-of-carbamoyl-phosphate-synthetase-1-cps1-deficiency-a-urea-cycle-disorder
#14
Carmen Diez-Fernandez, Johannes Häberle
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients. Over recent decades, therapies for CPS1D have barely improved leaving the management of these patients largely unchanged. Additionally, in many cases, current management (protein-restriction and supplementation with citrulline and/or arginine and ammonia scavengers) is insufficient for achieving metabolic stability, highlighting the importance of developing alternative therapeutic approaches...
April 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28277555/frequency-and-causes-of-hypotonia-in-neonatal-period-with-the-gestational-age-of-more-than-36-weeks-in-nicu-of-mofid-children-hospital-tehran-iran-during-2012-2014
#15
Nosratollah Seyed Shahabi, Hossain Fakhraee, Mohammad Kazemian, Abolfazl Afjeh, Minoo Fallahi, Maryam Shariati, Fatemeh Gorji
OBJECTIVE: Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS: This cross -sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28274169/safety-and-efficacy-of-topiramate-in-neonates-with-hypoxic-ischemic-encephalopathy-treated-with-hypothermia-neonati-a-feasibility-study
#16
Luca Filippi, Patrizio Fiorini, Serena Catarzi, Elettra Berti, Letizia Padrini, Elisa Landucci, Gianpaolo Donzelli, Laura Bartalena, Erika Fiorentini, Antonio Boldrini, Matteo Giampietri, Rosa Teresa Scaramuzzo, Giancarlo la Marca, Maria Luisa Della Bona, Simona Fiori, Francesca Tinelli, Ada Bancale, Andrea Guzzetta, Giovanni Cioni, Tiziana Pisano, Melania Falchi, Renzo Guerrini
Purpose To investigate the feasibility of a study based on treatment with topiramate added to moderate hypothermia in newborns with hypoxic ischemic encephalopathy (HIE). Materials and methods Multicenter randomized controlled trial. Term newborns with precocious metabolic, clinical and electroencephalographic (EEG) signs of HIE were selected according to their amplified integrated EEG pattern and randomized to receive either topiramate (10 mg/kg once a day for the first three days of life) plus moderate hypothermia or hypothermia alone...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28270654/a-proposed-physiopathological-pathway-to-hyperammonemic-encephalopathy-in-a-non-cirrhotic-patient-with-fibrolamellar-hepatocellular-carcinoma-without-ornithine-transcarbamylase-otc-mutation
#17
Rodrigo C Surjan, Elizabeth S Dos Santos, Tiago Basseres, Fabio F Makdissi, Marcel A Machado
BACKGROUND Hyperammonemic encephalopathy is a potentially fatal condition that may progress to irreversible neuronal damage and is usually associated with liver failure or portosystemic shunting. However, other less common conditions can lead to hyperammonemia in adults, such as fibrolamellar hepatocellular carcinoma. Clinical awareness of hyperammonemic encephalopathy in patients with normal liver function is paramount to timely diagnosis, but understanding the underlying physiopathology is decisive to initiate adequate treatment for complete recovery...
March 8, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28268486/identifying-stereotypic-evolving-micro-scale-seizures-sems-in-the-hypoxic-ischemic-eeg-of-the-pre-term-fetal-sheep-with-a-wavelet-type-ii-fuzzy-classifier
#18
Hamid Abbasi, Laura Bennet, Alistair J Gunn, Charles P Unsworth
Perinatal hypoxic-ischemic encephalopathy (HIE) around the time of birth due to lack of oxygen can lead to debilitating neurological conditions such as epilepsy and cerebral palsy. Experimental data have shown that brain injury evolves over time, but during the first 6-8 hours after HIE the brain has recovered oxidative metabolism in a latent phase, and brain injury is reversible. Treatments such as therapeutic cerebral hypothermia (brain cooling) are effective when started during the latent phase, and continued for several days...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28264506/plasma-membrane-na%C3%A2-%C2%BA-coupled-citrate-transporter-slc13a5-and-neonatal-epileptic-encephalopathy
#19
REVIEW
Yangzom D Bhutia, Jonathan J Kopel, John J Lawrence, Volker Neugebauer, Vadivel Ganapathy
SLC13A5 is a Na⁺-coupled transporter for citrate that is expressed in the plasma membrane of specific cell types in the liver, testis, and brain. It is an electrogenic transporter with a Na⁺:citrate(3-) stoichiometry of 4:1. In humans, the Michaelis constant for SLC13A5 to transport citrate is ~600 μM, which is physiologically relevant given that the normal concentration of citrate in plasma is in the range of 150-200 μM. Li⁺ stimulates the transport function of human SLC13A5 at concentrations that are in the therapeutic range in patients on lithium therapy...
February 28, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28261149/diagnostic-value-of-positron-emission-tomography-combined-with-computed-tomography-for-evaluating-critically-ill-neurological-patients
#20
Knut Kurt William Kampe, Roman Rotermund, Milena Tienken, Götz Thomalla, Marc Regier, Susanne Klutmann, Stefan Kluge
PURPOSE: (18)F-fluorodeoxyglucose positron emission tomography combined with computed tomography (FDG-PET/CT) is a promising new tool for the identification of inflammatory, infectious, and neoplastic foci. The aim of our work was to evaluate the diagnostic value of FDG-PET/CT in patients treated on a neurological/neurosurgical ICU or stroke unit. METHODS: We performed a single-center, 10-year, retrospective evaluation of the value of FDG-PET/CT in critically ill adult patients with severe neurological disease...
2017: Frontiers in Neurology
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