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metabolic encephalopathy

Antonio Gil-Gomez, Ana Isabel Gómez-Sotelo, Isidora Ranchal, Ángela Rojas, Marta García-Valdecasas, Rocío Muñoz-Hernández, Rocío Gallego-Durán, Javier Ampuero, Manuel Romero Gómez
AIM: to analyze the effect of metformin on ammonia production derived from glutamine metabolism in vitro and in vivo. METHODS: twenty male Wistar rats were studied for 28 days after a porto-caval anastomosis (n = 16) or a sham operation (n = 4). Porto-caval shunted animals were randomized into two groups (n = 8) and either received 30 mg/kg/day of metformin for two weeks or were control animals. Plasma ammonia concentration, Gls gene expression and K-type glutaminase activity were measured in the small intestine, muscle and kidney...
March 15, 2018: Revista Española de Enfermedades Digestivas
Ruhsen Öcal, Serkan Öcal, Mahir Kırnap, Gökhan Moray, Mehmet Haberal
OBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen...
March 2018: Experimental and Clinical Transplantation
Emmanuel Ademola Anigilaje
The survival of a child with severe volume depletion at the emergency department depends on the competency of the first responder to recognize and promptly treat hypovolemic shock. Although the basic principles on fluid and electrolytes therapy have been investigated for decades, the topic remains a challenge, as consensus on clinical management protocol is difficult to reach, and more adverse events are reported from fluid administration than for any other drug. While the old principles proposed by Holliday and Segar, and Finberg have stood the test of time, recent systematic reviews and meta-analyses have highlighted the risk of hyponatraemia, and hyponatraemic encephalopathy in some children treated with hypotonic fluids...
2018: Frontiers in Pediatrics
M Boyer, M Sowa, I Di Meo, S Eftekharian, M R Steenari, V Tiranti, J E Abdenur
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2 S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment modalities include metronidazole and N-acetylcysteine (NAC) to lower the production and promote detoxification of toxic H2 S...
February 14, 2018: Molecular Genetics and Metabolism
Steven L Flamm
Hepatic encephalopathy (HE) is a neuropsychiatric complication commonly associated with liver disease, namely cirrhosis. The inability of the liver to metabolize ammonia results in a buildup of ammonia, which can cross the blood-brain barrier and cause significant neurocognitive impairment. Up to 80% of patients with cirrhosis will experience HE and a large proportion of these patients are at high risk of recurrent HE. There are several factors to consider when developing a cost-effective approach to managing HE, such as patient compliance, the adverse event (AE) profile of drug therapy, efficacy of drug therapy, and relative cost-benefits of drug therapy...
March 2018: American Journal of Managed Care
Alexandra Kovalčíková, Marianna Gyurászová, Diana Vavrincová-Yaghi, Peter Vavrinec, Ľubomíra Tóthová, Peter Boor, Katarína Šebeková, Peter Celec
Uremic encephalopathy is a severe complication of renal failure. The underlying pathogenesis is unknown although several mechanisms have been suggested. Renal failure causes oxidative stress leading to cardiovascular complications. It has been suggested as the potential mediator of uremic encephalopathy as well, but it is largely unknown whether brain tissue itself undergoes oxidative damage in uremia. The aim of our experiment was to analyze oxidative stress markers in different brain regions in an animal model of acute kidney injury (AKI)...
March 7, 2018: Metabolic Brain Disease
Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine...
March 3, 2018: European Journal of Medical Genetics
Xiaolin Li, Zhangning Zhao, Xiaomin Liu, Gaoting Ma, Mei-Jia Zhu
INTRODUCTION: Propofol infusion syndrome (PRIS) is a rare but potentially fatal complication of propofol infusion. It is clinically characterized by metabolic acidosis, refractory bradycardia, rhabdomyolysis, renal failure, hyperlipidemia, and hepatomegaly. Brain lesion was only reported once in a pediatric patient. We present the 1st adult case with colon polyp and cancer who was diagnosed with PRIS. Her brain magnetic resonance imaging (MRI) and computed tomography (CT) scans reveal prominent bilateral brain lesions, matching with the proposed pathophysiologic mechanism of the syndrome...
January 2018: Medicine (Baltimore)
Ramsis F Ghaly, Armen Haroutunian, Kenneth D Candido, Nebojsa Nick Knezevic
Background: Altered mental status describes impaired mental functioning ranging from confusion to coma and indicates an illness, either metabolic or structural in nature. Metabolic causes include hypothyroidism, hyperuremia, hypo/hyperglycemia, hypo/hypernatremia, and encephalopathy. The structural causes include tumors, brain hemorrhage, infection, and stroke. To our knowledge, this is the first case in which a patient presented with altered mental status from both metabolic (myxedema coma) and structural diseases (frontal meningioma) with vasogenic edema and midline shift...
2018: Surgical Neurology International
Andrea Mancini, Francesca Campagna, Piero Amodio, Kieran M Tuohy
Hepatic encephalopathy (HE) is a debilitating neuropsychiatric condition often associated with acute liver failure or cirrhosis. Advanced liver diseases are characterized by a leaky gut and systemic inflammation. There is strong evidence that the pathogenesis of HE is linked to a dysbiotic gut microbiota and to harmful microbial by-products, such as ammonia, indoles, oxindoles and endotoxins. Increased concentrations of these toxic metabolites together with the inability of the diseased liver to clear such products is thought to play an important patho-ethiological role...
February 27, 2018: Food & Function
Mary Kay Koenig, Penelope E Bonnen
Metabolomic profiling is an emerging technology in the clinical setting with immediate diagnostic potential for the population of patients with Inborn Errors of Metabolism. We present the metabolomics profile of two ABAT deficiency patients both pre- and posttreatment with flumazenil. ABAT deficiency, also known as GABA-transaminase deficiency, is caused by recessive mutations in the gene ABAT and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and seizures. Through metabolomics screening of multiple patient tissues, we identify 2-pyrrolidinone as a biomarker for GABA that is informative in plasma, urine, and CSF...
February 27, 2018: JIMD Reports
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M Davidson, Jennifer E Kyle, Megan E Grove, Dianna G Fisk, Jennefer N Kohler, Matthew Holmes, Annika M Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M Zink, Young-Mo Kim, Heino M Heyman, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Michael Snyder, Jason D Merker, Stephen B Montgomery, Paul G Fisher, René G Feichtinger, Johannes A Mayr, Julie Hall, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Katrina M Waters, David M Koeller, Thomas O Metz, Andrew A Morris, Susan Schelley, Tina Cowan, Marisa W Friederich, Robert McFarland, Johan L K Van Hove, Gregory M Enns, Shinya Yamamoto, Euan A Ashley, Michael F Wangler, Robert W Taylor, Hugo J Bellen, Jonathan A Bernstein, Matthew T Wheeler
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.245C>T (p.Pro82Leu), presented with recurrent metabolic decompensation starting in the neonatal period, and subject 2, homozygous for c...
February 16, 2018: American Journal of Human Genetics
Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão
INTRODUCTION: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. CASE REPORT: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly...
February 25, 2018: JIMD Reports
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, Francois H van der Westhuizen, Anu Suomalainen, Anna H Hakonen, Christopher J Carroll, Richard J Rodenburg, Paul B de Laat, Mirian C H Janssen, Jan A M Smeitink, Roan Louw
We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The first cohort were used in an exploratory phase, identifying 36 metabolites that were significantly perturbed by the disease. During the second phase, the 36 selected metabolites were able to separate a validation cohort of MELAS patients completely from their respective control group, suggesting usefulness of these 36 markers as a diagnostic set...
February 19, 2018: Mitochondrion
Mayu Nishimuta, Kenta Masui, Tomoko Yamamoto, Yuichi Ikarashi, Katsutoshi Tokushige, Etsuko Hashimoto, Yoji Nagashima, Noriyuki Shibata
We present a case of hepatolenticular degeneration, so-called Wilson's disease (WD), in a 31-year-old Japanese man with broader deposition of copper in the liver, kidney and brain. The liver showed severe cirrhotic changes with macronodular pseudolobule formation, but there was little difference in immunohistochemical expression patterns of the copper transporter ATP7B between the control and present case. In the brain, there were both WD-related lesions such as the scattering of Opalski cells and changes caused by hepatic encephalopathy including the appearance of Alzheimer type II glia...
February 21, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Byong Sop Lee, Dong-Cheol Woo, Chul-Woong Woo, Ki-Soo Kim
β-Hydroxybutyrate (BHB) is a representative ketone body that may play a role in the mitigation of neonatal hypoxic-ischemic encephalopathy by altering energy metabolism. This study aimed to investigate the neuroprotective efficacy of exogenous BHB administration in a suckling rat model after hypoxia-ischemia (HI). Thirteen-day-old (P13) rat pups were subjected to 120 min of hypoxia according to the Rice-Vannucci model. BHB (5.0 mmol/kg, HI-BHB) or vehicle (0.9% saline, HI-Veh) was administered 0, 2, 4, and 6 h after HI induction...
February 21, 2018: Developmental Neuroscience
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
Paul Carrier, Véronique Loustaud-Ratti
Hepatic encephalopathy (HE) management is a hard and unavoidable clinical challenge in cirrhotic patients [1]. This neuropsychological complex syndrome ranges from weak behavior abnormalities to deep coma. Indeed, the presence of HE is a bad prognostic marker, with a mortality rate higher than 50% in the year following the first symptoms [2,3]. Despite its frequency and numerous dedicated studies, pathophysiology is not totally understood [4]. The main documented physiological factors are impaired ammonia metabolism and specific inflammation linked to liver disease [5,6]...
February 11, 2018: Fundamental & Clinical Pharmacology
Chun-Miao Wei, Gui-Zhi Xia, Rong-Na Ren
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Rebecca D Ganetzky, Marni J Falk
BACKGROUND: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms...
February 2, 2018: Molecular Genetics and Metabolism
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