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https://www.readbyqxmd.com/read/28936406/gut-microbiome-based-therapeutics-in-liver-cirrhosis-basic-consideration-for-the-next-step
#1
REVIEW
Hiroshi Fukui
Infections account for significant morbidity and mortality in liver cirrhosis and most are related to the gut microbiome. Fecal dysbiosis, characterized by an overgrowth of potentially pathogenic bacteria and a decrease in autochthonous non-pathogenic bacteria, becomes prominent with the progression of liver cirrhosis. In cirrhotic patients, disruption of the intestinal barrier causes intestinal hyperpermeability (i.e. leaky gut), which is closely related to gut dysmotility, dysbiosis and small intestinal bacterial overgrowth and may induce pathological bacterial translocation...
September 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28924437/fundus-findings-in-wernicke-encephalopathy
#2
Tal Serlin, Elad Moisseiev
Wernicke encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine (vitamin B1) deficiency, classically characterized by the triad of ophthalmoplegia, confusion, and ataxia. While commonly associated with chronic alcoholism, WE may also occur in the setting of poor nutrition or absorption. We present a 37-year-old woman who underwent laparoscopic sleeve gastrectomy and presented with visual disturbance with bilateral horizontal nystagmus, confusion, and postural imbalance. Fundus examination revealed bilateral optic disc edema with a retinal hemorrhage in the left eye...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28919607/impact-of-adrenocortical-insufficiency-on-clinical-parameters-in-haemodynamically-stable-cirrhotic-patients-with-ascites
#3
H Ahmed, M R Karim, R K Paul, M Chowdhury, M S Alam, A Saha, F Rahman, M A Rouf
Cirrhosis has many complications regardless of the aetiology. Complications include splenomegaly, ascites, hepatic encephalopathy, spontaneous bacterial peritonitis, hepatorenal syndrome and hepatocellular carcinoma and also linked to abnormalities in the endocrine system, including abnormal sex hormone metabolism, thyroid disease, osteoporosis, and, most recently identified, adrenal insufficiency. This prospective cohort study was done to evaluate the impact of adrenocortical insufficiency on clinical parameters in haemodynamically stable cirrhotic patients with ascites and had been performed at the inpatient of GHPD Department, BIRDEM, Dhaka, Bangladesh from April 2011 to March 2012...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28912724/abnormalities-in-the-polysomnographic-adenosine-and-metabolic-response-to-sleep-deprivation-in-an-animal-model-of-hyperammonemia
#4
Selena Marini, Olena Santangeli, Pirjo Saarelainen, Benita Middleton, Namrata Chowdhury, Debra J Skene, Rodolfo Costa, Tarja Porkka-Heiskanen, Sara Montagnese
Patients with liver cirrhosis can develop hyperammonemia and hepatic encephalopathy (HE), accompanied by pronounced daytime sleepiness. Previous studies with healthy volunteers show that experimental increase in blood ammonium levels increases sleepiness and slows the waking electroencephalogram. As ammonium increases adenosine levels in vitro, and adenosine is a known regulator of sleep/wake homeostasis, we hypothesized that the sleepiness-inducing effect of ammonium is mediated by adenosine. Eight adult male Wistar rats were fed with an ammonium-enriched diet for 4 weeks; eight rats on standard diet served as controls...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28905505/biallelic-variants-in-wars2-encoding-mitochondrial-tryptophanyl-trna-synthase-in-six-individuals-with-mitochondrial-encephalopathy
#5
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg
Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six individuals from five families presenting with either severe neonatal onset lactic acidosis, encephalomyopathy and early death or a later onset, more attenuated course of disease with predominating intellectual disability...
September 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28904459/clinical-biochemical-characteristics-and-hospital-outcome-of-acute-intermittent-porphyria-patients-a-descriptive-study-from-north-india
#6
Susheel Kumar, Ashish Bhalla, Navneet Sharma, Deba Prasad Dhibar, Savita Kumari, Subhash Varma
INTRODUCTION: Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND METHODS: It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed. RESULTS: Fifteen AIP patients constituted of eight females and seven males were analyzed...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28889268/aluminum-and-alzheimer-s-disease
#7
Maria Teresa Colomina, Fiona Peris-Sampedro
Aluminum (Al) is one of the most extended metals in the Earth's crust. Its abundance, together with the widespread use by humans, makes Al-related toxicity particularly relevant for human health.Despite some factors influence individual bioavailability to this metal after oral, dermal, or inhalation exposures, humans are considered to be protected against Al toxicity because of its low absorption and efficient renal excretion. However, several factors can modify Al absorption and distribution through the body, which may in turn progressively contribute to the development of silent chronic exposures that may lately trigger undesirable consequences to health...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#8
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28875427/epileptic-seizures-in-nonalcoholic-wernicke-s-encephalopathy-a-case-report-and-literature-review
#9
Wenjin Shang, Xiuhui Chen, Xunhua Li, Hongbing Chen, Shujin Tang, Hua Hong
Wernicke encephalopathy (WE) is characterized by eye signs, cerebellar dysfunction, and confusion. Epileptic seizures are rare in nonalcoholic WE. We reviewed the clinical, laboratory, radiological, and prognostic characteristics of nonalcoholic WE accompanied by epileptic seizures. We reported 1 case and searched similar cases using PubMed, WoK, Ovid, and Embase. WE was diagnosed according to dietary deficiencies, clinical symptoms and brain magnetic resonance imaging (MRI). We reviewed 13 patients (median age, 27 years; 5 men) with clear histories of thiamine deficiency and symptoms of typical WE...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28872495/dislocated-dental-prothesis-sitting-at-the-larynx-in-an-aphasic-patient-potentially-fatal-situation
#10
Bilge Türk, Özlem Ünsal, Kerem Sami Kaya, Berna Uslu Coşkun
INTRODUCTION: Foreign body in respiration tract is a life-threatening emergency and requires urgent treatment. The diagnosis and treatment requires awareness and suspicion of signs and symptoms of foreign body aspiration. CASE: A unique case of total dental prothesis aspiration of a 44-year-old aphasic patient is presented. The prothesis is completely removed from the larynx. DISCUSSION: Foreign-body aspiration is frequently suspected in children, it is rarely thought about in adults with subacute or chronic respiratory symptoms unless an evident history of an aspiration event is obtained...
September 1, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28870583/a-new-infectious-encephalopathy-syndrome-clinically-mild-encephalopathy-associated-with-excitotoxicity-meex
#11
Nozomi Hirai, Daisuke Yoshimaru, Yoko Moriyama, Kumi Yasukawa, Jun-Ichi Takanashi
Acute infectious encephalopathy is often observed in children in East Asia including Japan. More than 40% of the patients remain unclassified into specific syndromes. To investigate the underlying pathomechanisms in those with unclassified encephalopathy, we evaluated brain metabolism by MR spectroscopy. Among seven patients with acute encephalopathy admitted to our hospital from June 2016 to May 2017, three were classified into acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). The other four showed consciousness disturbance lasting more than three days with no parenchymal lesion visible on MRI, which led to a diagnosis of unclassified encephalopathy...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28870161/chronic-dialysis-nat2-polymorphisms-and-the-risk-of-isoniazid-induced-encephalopathy-case-report-and-literature-review
#12
Stefan Matei Constantinescu, Benoit Buysschaert, Vincent Haufroid, Franck Broly, Michel Jadoul, Johann Morelle
BACKGROUND: Isoniazid is the most widely used anti-tuberculosis agent, yet it may lead to life-threatening complications. CASE PRESENTATION: Here we report the case of a chronic hemodialysis patient who developed severe encephalopathy after the start of isoniazid. Blood levels of isoniazid were elevated, and acetyl-isoniazid over isoniazid ratio was decreased 3 h after intake of the medication, suggesting that a slow acetylator phenotype may have contributed to drug toxicity, in addition to pyridoxal phosphate removal by dialysis...
September 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28867032/-revelation-of-the-circumstances-of-the-accident-vascular-arterial-ischemic-brain-in-at-term-or-near-term-and-referral
#13
F Cneude, J-F Diependaele, J-L Chabernaud
The neonatal arterial ischemic stroke is an emergency. Recurrent focal seizures, generally occurring in the first 24-72 hours after birth, are the commonest first clinical signs. When neonatal arterial ischemic stroke is suspected, optimal initial management involves careful supportive care including treatment of clinical and frequent or prolonged subclinical seizures, correction of the possible metabolic disorders and their prevention. Contrary to hypoxic ischemic encephalopathy, therapeutic hypothermia is not indicated...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28860214/brain-temperature-is-increased-during-the-first-days-of-life-in-asphyxiated-newborns-developing-brain-injury-despite-hypothermia-treatment
#14
Z P Owji, G Gilbert, C Saint-Martin, P Wintermark
BACKGROUND AND PURPOSE: Therapeutic hypothermia is the current treatment for neonates with hypoxic-ischemic encephalopathy. It is believed to work by decreasing the brain temperature and reducing the baseline metabolism and energy demand of the brain. This study aimed to noninvasively assess brain temperature during the first month of life in neonates with hypoxic-ischemic encephalopathy treated with hypothermia. MATERIALS AND METHODS: Neonates with hypoxic-ischemic encephalopathy treated with hypothermia and healthy neonates were enrolled prospectively...
August 31, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28859995/glymphatic-system-disruption-as-a-mediator-of-brain-trauma-and-chronic-traumatic-encephalopathy
#15
REVIEW
Molly J Sullan, Breton M Asken, Michael S Jaffee, Steven T DeKosky, Russell M Bauer
Traumatic brain injury (TBI) is an increasingly important issue among veterans, athletes and the general public. Difficulties with sleep onset and maintenance are among the most commonly reported symptoms following injury, and sleep debt is associated with increased accumulation of beta amyloid (Aβ) and phosphorylated tau (p-tau) in the interstitial space. Recent research into the glymphatic system, a lymphatic-like metabolic clearance mechanism in the central nervous system (CNS) which relies on cerebrospinal fluid (CSF), interstitial fluid (ISF), and astrocytic processes, shows that clearance is potentiated during sleep...
August 28, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28844055/what-is-mr-spectroscopy
#16
Karen Angela Manias, Andrew Peet
(1)H-Magnetic Resonance Spectroscopy (MRS) is a novel advanced imaging technique used as an adjunct to MRI to reveal complementary non-invasive information about the biochemical composition of imaged tissue. Clinical uses in paediatrics include aiding diagnosis of brain tumours, neonatal disorders such as hypoxic-ischaemic encephalopathy, inherited metabolic diseases, traumatic brain injury, demyelinating conditions and infectious brain lesions. MRS has potential to improve diagnosis and treatment monitoring of childhood brain tumours and other CNS diseases, facilitate biopsy and surgical planning, and provide prognostic biomarkers...
August 26, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28840775/untargeted-metabolomic-analysis-and-pathway-discovery-in-perinatal-asphyxia-and-hypoxic-ischaemic-encephalopathy
#17
Niamh M Denihan, Jennifer A Kirwan, Brian H Walsh, Warwick B Dunn, David I Broadhurst, Geraldine B Boylan, Deirdre M Murray
Elucidating metabolic effects of hypoxic-ischaemic encephalopathy (HIE) may reveal early biomarkers of injury and new treatment targets. This study uses untargeted metabolomics to examine early metabolic alterations in a carefully defined neonatal population. Infants with perinatal asphyxia who were resuscitated at birth and recovered (PA group), those who developed HIE (HIE group) and healthy controls were all recruited at birth. Metabolomic analysis of cord blood was performed using direct infusion FT-ICR mass spectrometry...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28832001/acquired-epileptic-opercular-syndrome-related-to-a-heterozygous-deleterious-substitution-in-grin2a
#18
Claudine Sculier, Anne-Sophie Tilmant, Xavier De Tiège, Sanda Giurgea, Philippe Paquier, Gabrielle Rudolf, Gaetan Lesca, Patrick Van Bogaert
Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity. Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6-year-old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS...
August 23, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28816832/reversible-splenial-lesion-syndrome-after-intravenous-immunoglobulin-treatment-for-guillain-barre-syndrome
#19
Elif Uygur Kucukseymen, Burcu Yuksel, Fatma Genc, Eylem Ozaydin Goksu, Sevim Yildiz, Yasemin Bicer Gomceli
Reversible corpus callosum splenial (CCS) lesions have been described in patients with varied etiologies. The most common causes of previously reported reversible focal lesions of the CCS are viral encephalitis, antiepileptic drug toxicity/withdrawal, and metabolic disorders. Intravenous immunoglobulin (IVIG) therapy is used for different immune-mediated diseases. It is generally safe, and serious adverse reactions are uncommon. We presented a rare case of disturbed consciousness with reversible CCS lesions after IVIG therapy for Guillain-Barre syndrome in an adult woman...
September 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28811719/refractory-hepatic-encephalopathy-in-a-patient-with-hypothyroidism-another-element-in-ammonia-metabolism
#20
Fernando Díaz-Fontenla, Marta Castillo-Pradillo, Arantxa Díaz-Gómez, Luis Ibañez-Samaniego, Pilar Gancedo, Juan Adan Guzmán-de-Villoria, Pilar Fernández-García, Rafael Bañares-Cañizares, Rita García-Martínez
Hepatic encephalopathy (HE) remains a diagnosis of exclusion due to the lack of specific signs and symptoms. Refractory HE is an uncommon but serious condition that requires the search of hidden precipitating events (i.e., portosystemic shunt) and alternative diagnosis. Hypothyroidism shares clinical manifestations with HE and is usually considered within the differential diagnosis of HE. Here, we describe a patient with refractory HE who presented a large portosystemic shunt and post-ablative hypothyroidism...
July 28, 2017: World Journal of Gastroenterology: WJG
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