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https://www.readbyqxmd.com/read/29159724/turkish-case-of-ethylmalonic-encephalopathy-misdiagnosed-as-short-chain-acyl-coa-dehydrogenase-deficiency
#1
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Gülen Gül-Mert, Sebile Kılavuz, Neslihan Önenli-Mungan
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
November 20, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#2
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29153024/-diet-treatment-of-classical-galactosemia
#3
Erika Kiss, Lídia Balogh, Péter Reismann
Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29152432/acute-changes-in-mentation-in-a-patient-with-hepatic-cirrhosis-treated-with-high-doses-of-dexamethasone
#4
Luis Dabul, Andrew Droney, Juan Oms, Marcos A Sanchez-Gonzalez
Despite the anti-inflammatory benefits of steroids in the management of multiple medical conditions, they are associated with undesired metabolic and psychiatric side effects. We present a case of a 57-year-old Hispanic man with hepatic cirrhosis due to hepatitis C and no past medical history of psychiatric illnesses who became delirious after treatment with high doses of intravenous Dexamethasone. The patient presented to Larkin Community Hospital, USA with complaints of lower back pain requiring treatment with steroids for severe lumbar central canal stenosis...
September 10, 2017: Curēus
https://www.readbyqxmd.com/read/29138968/mitochondrial-dysfunctions-contribute-to-energy-deficits-in-rodent-model-of-hepatic-encephalopathy
#5
Saurabh Dhanda, Aditya Sunkaria, Avishek Halder, Rajat Sandhir
Perturbations in the cerebral energy metabolism are anticipated to be an important factor by which ammonia may exert its toxic effects on the central nervous system. The present study was designed to investigate the role of impaired mitochondrial functions and cerebral energy metabolism in the development hepatic encephalopathy (HE) induced by of bile duct ligation (BDL). After four weeks of BDL, a significant increase in hepatic hydroxyproline and collagen content was observed which confirmed biliary fibrosis...
November 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29138746/a-novel-encephalopathy-in-a-thiamine-deficient-dog-resembling-human-wernicke-s-disease-with-atypical-mri-pattern
#6
Floriana Gernone, Mario Ricciardi
Thiamine is a water-soluble vitamin, which participates in several vital metabolic pathways involved in energy metabolism and neurotransmitter synthesis of mammals. In companion animals thiamine deficiency is classically associated with signs of diffuse encephalopathy and lesions on brainstem nuclei and mesencephalic colliculi evident on magnetic resonance imaging. This paper describes a novel clinical presentation in a thiamine-deficient dog showing multifocal, central and peripheral nervous and cardiovascular system alterations...
2017: Open veterinary journal
https://www.readbyqxmd.com/read/29131150/neurologic-complications-after-allogeneic-hematopoietic-stem-cell-transplantation-risk-factors-and-impact
#7
M R Dowling, S Li, B R Dey, S L McAfee, H R Hock, T R Spitzer, Y-B Chen, K K Ballen
Neurologic complications (NCs) may be a significant source of morbidity and mortality after hematopoietic cell transplantation (HCT). We performed a retrospective study of 263 consecutive patients undergoing allogeneic HCT for hematological malignancies to determine the incidence, risk factors and clinical impact of NCs in the first 5 years after HCT. We determined the incidence of central nervous system (CNS) infection, intracranial hemorrhage, ischemic stroke, metabolic encephalopathy, posterior reversal encephalopathy syndrome, seizure and peripheral neuropathy...
November 13, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29127768/diabetic-ketoacidosis-hyperuricemia-and-encephalopathy-intractable-to-regular-dose-insulin
#8
Jillian Gregory, Sonali Basu
BACKGROUND: Diabetic ketoacidosis (DKA) in children less than 1 year of age is a rare occurrence. Typical presentation includes a prodrome of weight loss and polyuria with subsequent presentation to medical care when acidosis becomes symptomatic. CASE PRESENTATION: We describe an unusual case of a previously healthy infant with a 3 days' history of constipation, presenting acutely with abdominal pain, lethargy, and dehydration. On initial evaluation, our patient had profound encephalopathy, with marked tachypnea and work of breathing...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29124439/lennox-gastaut-syndrome-a-comprehensive-review
#9
Ali A Asadi-Pooya
Lennox-Gastaut syndrome (LGS) is considered an epileptic encephalopathy and is defined by a triad of multiple drug-resistant seizure types, a specific EEG pattern showing bursts of slow spike-wave complexes or generalized paroxysmal fast activity, and intellectual disability. The prevalence of LGS is estimated between 1 and 2% of all patients with epilepsy. The etiology of LGS is often divided into two groups: identifiable (genetic-structural-metabolic) in 65 to 75% of the patients and LGS of unknown cause in others...
November 9, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29121830/acute-reversible-toxic-encephalopathy-during-capecitabine-and-oxaliplatin-treatment
#10
João Godinho, Mafalda Casa-Nova, Teresa Mesquita, Maria João Baptista, Francisco Araújo, José Vale, José Luís Passos Coelho
Introduction Capecitabine is a fluoropyrimidine commonly used in the treatment of colorectal cancer which may cause central nervous system toxicity, namely cerebellar dysfunction. Case report We describe a 77-year-old man undergoing adjuvant treatment of colon cancer with capecitabine and oxaliplatin who presented with acute cerebellar ataxia and encephalopathy that progressed to coma. Diagnosis of toxic encephalopathy was made after the exclusion of alternative causes of neurological dysfunction and complete resolution of clinical findings with permanent discontinuation of chemotherapy...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29101630/biotin-thiamin-responsive-basal-ganglia-disease-in-siblings
#11
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Maya Bhat, Naveen Benakappa
Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Neuroimaging showed signal changes in basal ganglia and thalami. Genetic testing showed a homozygous missense substitution p.Gly23Val (c...
November 4, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29095003/-spanish-multicenter-study-hyperammonemia-not-associated-with-inborn-errors-of-metabolism-in-children
#12
Mercedes Gil Campos, Javier Blasco-Alonso, Concepción Sierra Córcoles, José Luis Cuevas Cervera, Luisa Arrabal Fernández, Luis Aldámiz Echevarría, Amaya Belanger
INTRODUCTION: The hyperammonemic encephalopathy induced by causes different from inborn errors of metabolism is a relatively uncommon but severe complication. OBJETIVES: To study the characteristics of a secondary hyperammonemia episode to discern the triggering causes to get to the diagnosis, and the development in the therapeutic intervention. METHODS: A multicenter retrospective study of children with hyperammonemia unrelated to inborn errors of metabolism, conducted in Spanish hospitals...
July 28, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29093326/contrast-induced-encephalopathy-following-embolization-of-intracranial-aneurysms-in-hemodialysis-patients
#13
Noriaki Matsubara, Takashi Izumi, Shigeru Miyachi, Keisuke Ota, Toshihiko Wakabayashi
Contrast-induced encephalopathy is a very rare complication associated with endovascular treatment of intracranial aneurysms. Patients with renal dysfunction may be prone to developing contrast medium neurotoxicity as a result of delayed elimination of the contrast medium in renal metabolism. This article focuses on our experience with contrast-induced encephalopathy in patients with end-stage renal disease requiring hemodialysis. The authors retrospectively reviewed five patients diagnosed with contrast-induced encephalopathy who underwent aneurysm coil embolization at their institution from January 2006 to December 2015...
October 31, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/29081128/-clinical-effect-of-high-pressure-oxygen-and-butylphthalide-in-the-recovery-of-cerebral-metabolism-after-carbon-monoxide-poisoning
#14
Q Han, X T Guo, H H Zhang, R Tian, X Gao, Z Q Zhang
Objective: To study the clinical effect of high pressure oxygen and Butylphthalide in the recovery of cerebral metabolism after carbon monoxide poisoning. Methods: 84 patients treated from May 2014 to May 2016 in our hospital were selected. The subjects were randomly and equally divided into two groups. The control group adopted the conventional therapy and high pressure oxygen; on the basis, the observation group also took Butylphthalide. The clinical effect, duration of coma, recovery of consciousness, incidence rate of delayed encephalopathy was observed...
August 20, 2017: Chinese Journal of Industrial Hygiene and Occupational Diseases
https://www.readbyqxmd.com/read/29071542/infant-with-hepatomegaly-and-hypoglycemia-a-setting-for-fatty-acid-oxidation-defects
#15
Aathira Ravindranath, Gautham Pai, Anshu Srivastava, Ujjal Poddar, Surender Kumar Yachha
Fatty acid oxidation defects (FAOD) are one of the commonest metabolic liver diseases (MLDs) that can have varied presentations in different age groups. An infant presented with short history of jaundice and irritability, examination showed soft hepatomegaly. Investigations revealed non-ketotic hypoglycemia suggesting FAOD which was later confirmed as carnitine uptake defect with gas chromatography and mass spectrometry and mutation analysis. Patient improved with acute management of metabolic crisis, carnitine supplementation and corn starch therapy with reversal of encephalopathy, reduction in hepatomegaly, maintenance of euglycemia and improvement in liver function tests and creatine phosphokinase on follow up...
October 26, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29069042/the-radiological-findings-of-hypoglycemic-encephalopathy-a-case-report-with-high-b-value-dwi-analysis
#16
Shan Ren, Zhigang Chen, Ming Liu, Zhiqun Wang
RATIONALE: Hypoglycemic encephalopathy is a metabolic encephalopathy. Clinical risk is mixed with acute cerebrovascular disease, so it is critical to identify and make the correct diagnosis of the disease as early as possible. PATIENT CONCERNS: Here, we report a case of a 51-year-old male patient with hypoglycemic encephalopathy, who presented confusion and unconsciousness for 1 day. DIAGNOSES: In addition to blood-related indicators and medical histories, magnetic resonance imaging (MRI), especially diffusion-weighted imaging (DWI), can be valuable to the diagnosis of hypoglycemic encephalopathy, which showed diffuse high-signal intensity in the cerebral cortex, and also the hippocampus, head of the caudate nucleus, the lentiform nucleus, and corpus callosum...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29062904/ammonia-induced-mitochondrial-dysfunction-and-energy-metabolism-disturbances-in-isolated-brain-and-liver-mitochondria-and-the-effect-of-taurine-administration-relevance-to-hepatic-encephalopathy-treatment
#17
Hossein Niknahad, Akram Jamshidzadeh, Reza Heidari, Mahdi Zarei, Mohammad Mehdi Ommati
INTRODUCTION: Ammonia-induced oxidative stress, mitochondrial dysfunction, and energy crisis are known as some the major mechanisms of brain injury in hepatic encephalopathy (HE). Hyperammonemia also affects the liver and hepatocytes. Therefore, targeting mitochondria seems to be a therapeutic point of intervention in the treatment of HE. Taurine is an abundant amino acid in the human body. Several biological functions including the mitochondrial protective properties are attributed to this amino acid...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/29057245/a-case-report-of-congenital-glycogen-storage-liver-cirrhosis-treated-with-bone-marrow-derived-stem-cells
#18
Terek W Wehbe, Nassim H Abi Chahine, Abdul-Rahman A Annous, Mohammad A Ferri, Robert C Boulous, Majid F El-Mestrah
Liver cirrhosis represents a state of end-stage failure that is usually fatal. The condition results in liver dysfunction, recurrent ascites, encephalopathy, renal failure, splenomegaly, bleeding, and a poor quality of life in general. With the current severe shortage of donated organs, the only available treatment in the developing countries remains palliative care. We report a case of congenital metabolic liver cirrhosis due to glycogen storage disease diagnosed at age eight. The patient, a male, received bone marrow derived mononuclear cells (BMMC) at age 16 and again at age 17 with significant improvement of his biochemical liver function tests, ascites build-up, asthenia, splenomegaly and quality of life...
2017: Stem Cell Investigation
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#19
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29031613/pathogenic-mutations-of-the-human-mitochondrial-citrate-carrier-slc25a1-lead-to-impaired-citrate-export-required-for-lipid-dolichol-ubiquinone-and-sterol-synthesis
#20
Homa Majd, Martin S King, Anthony C Smith, Edmund R S Kunji
Missense mutations of the human mitochondrial citrate carrier, encoded by the SLC25A1 gene, lead to an autosomal recessive neurometabolic disorder characterised by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development, often resulting in early death. Here, we have measured the effect of all twelve known pathogenic mutations on the transport activity. The results show that nine mutations abolish transport of citrate completely, whereas the other three reduce the transport rate by >70%, indicating that impaired citrate transport is the most likely primary cause of the disease...
October 12, 2017: Biochimica et Biophysica Acta
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