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metabolic encephalopathy

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https://www.readbyqxmd.com/read/29775114/oxygen-dependency-of-mitochondrial-metabolism-indicates-outcome-of-newborn-brain-injury
#1
Gemma Bale, Subhabrata Mitra, Isabel de Roever, Magdalena Sokolska, David Price, Alan Bainbridge, Roxana Gunny, Cristina Uria-Avellanal, Giles S Kendall, Judith Meek, Nicola J Robertson, Ilias Tachtsidis
There is a need for a method of real-time assessment of brain metabolism during neonatal hypoxic-ischaemic encephalopathy (HIE). We have used broadband near-infrared spectroscopy (NIRS) to monitor cerebral oxygenation and metabolic changes in 50 neonates with HIE undergoing therapeutic hypothermia treatment. In 24 neonates, 54 episodes of spontaneous decreases in peripheral oxygen saturation (desaturations) were recorded between 6 and 81 h after birth. We observed differences in the cerebral metabolic responses to these episodes that were related to the predicted outcome of the injury, as determined by subsequent magnetic resonance spectroscopy derived lactate/N-acetyl-aspartate...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29769109/valproate-induced-hyperammonemia-uncovering-an-underlying-inherited-metabolic-disorder-a-case-report
#2
Shaine Mehta, Sarrah Tayabali, Robin Lachmann
BACKGROUND: Sodium valproate is a commonly used anticonvulsant. It is widely recognized that valproate can cause hyperammonemia, particularly in people with underlying liver disease. Patients with urea cycle disorders are genetically predisposed to this adverse event and can develop severe hyperammonemia if given valproate. This can occur even if liver functions tests and plasma concentration of valproate are normal, highlighting the importance of checking ammonia levels in any patient presenting with encephalopathy...
May 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29767723/isca1-mutation-in-a-patient-with-infantile-onset-leukodystrophy-causes-defects-in-mitochondrial-4fe-4s-proteins
#3
Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia, Daria Diodato, Diego Martinelli, Fiorella Piemonte, Carlo Dionisi-Vici, Enrico Bertini, Roland Lill, Rosalba Carrozzo
Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia, myopathy, lactic acidosis and early death. Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57), and MMDS4 (ISCA2). MMDS5 has recently been described in a clinical case report of patients carrying a mutation in ISCA1, but with no further functional analysis...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29756986/-dietetic-treatment-with-fructose-in-a-5-year-old-girl-with-recurrent-d-lactic-acidosis
#4
Lourdes Travieso Suárez, Pilar Quijada Fraile, Consuelo Pedrón Giner
D-lactic acidosis is an infrequent complication, mainly reported in patients with short bowel syndrome. It is characterized by recurrent episodes of encephalopathy with elevated serum D-lactic acid, usually associating metabolic acidosis. The presence of D-lactate-producing bacteria is necessary for the development of this complication. Other factors, such as the ingestion of large amounts of carbohydrates or reduced intestinal motility, contribute to D-lactic acidosis. We report a case of recurrent D-lactic acidosis in a 5-year-old girl with short bowel syndrome, due to a midgut volvulus...
March 1, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29753318/successful-pregnancy-in-maple-syrup-urine-disease-a-case-report-and-review-of-the-literature
#5
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only few cases of pregnancies in MSUD mothers have been reported so far. CASE PRESENTATION: We present the favorable outcome of a pregnancy in a woman with classical MSUD...
May 12, 2018: Nutrition Journal
https://www.readbyqxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#6
REVIEW
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29732162/a-novel-assessment-and-treatment-approach-to-patients-with-hashimoto-s-encephalopathy
#7
Kate Laycock, Abhijit Chaudhuri, Charlotte Fuller, Zahra Khatami, Frederick Nkonge, Nemanja Stojanovic
Hashimoto's encephalopathy (HE) is rarely reported with only a few hundred cases published. Diagnosis is made in patients with an appropriate clinical picture and high antithyroperoxidase (anti-TPO) antibodies after infectious, toxic and metabolic causes of encephalopathy have been excluded. There is little objective data on the neurocognitive impairment in patients with HE and their improvement with treatment. We present the case of a 28-year-old woman with HE. Approach to management was novel as objective neuropsychological assessment was used to assess her clinical condition and response to treatment...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29731706/phosphorylation-of-threonine-175-tau-in-the-induction-of-tau-pathology-in-amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-a-review
#8
REVIEW
Alexander J Moszczynski, Matthew A Hintermayer, Michael J Strong
Approximately 50-60% of all patients with amyotrophic lateral sclerosis (ALS) will develop a deficit of frontotemporal function, ranging from frontotemporal dementia (FTD) to one or more deficits of neuropsychological, speech or language function which are collectively known as the frontotemporal spectrum disorders of ALS (ALS-FTSD). While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29726081/liver-transplantation-for-neonatal-onset-citrullinemia
#9
Roshni Vara, Anil Dhawan, Maesha Deheragoda, Stephanie Grünewald, Germaine Pierre, Nigel D Heaton, Hector Vilca-Melendez, Nedim Hadžić
Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, seizures, and if untreated can be fatal. Despite advances in medical therapy, neurocognitive outcomes remain suboptimal. LT has emerged as a potential management option. A retrospective single-center review identified 7 children with a median age of 1.1 years (range, 0.6-5.8) at referral. Five children presented clinically, and 2 were treated prospectively from birth due to positive family history...
May 3, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29719722/an-aggravated-return-to-work-case-of-organic-solvent-induced-chronic-toxic-encephalopathy
#10
Sangyun Seo, Jungwon Kim
Background: Organic solvent-induced chronic toxic encephalopathy (CTE) is known as a non-progressive disorder that does not progress after diagnosis. The authors present a case those symptoms worsened after continued exposure to organic solvent after returning to work. Because such a case has not been reported in South Korea to the best of our knowledge, we intend to report this case along with literature review. Case presentation: A 59-year-old man, who performed painting job at a large shipyard for 20 years, was receiving hospital treatment mainly for depression...
2018: Annals of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29718829/generalized-periodic-discharges-a-topical-review
#11
Krystal E Sully, Aatif M Husain
Generalized periodic discharges (GPDs) are generalized discharges that recur with a relatively uniform morphology and duration. They have a quantifiable interdischarge interval. Over the past decade, our understanding of these waveforms has improved considerably. The nomenclature has changed, and etiologic references have been removed. Many disease states can cause GPDs, such as anoxia, toxic/metabolic encephalopathy, infections, nonconvulsive status epilepticus, and hypothermia. Generally, GPDs are morphologically similar regardless of etiology...
May 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/29718007/upregulation-of-cholesterol-24-hydroxylase-following-hypoxia-ischemia-in-neonatal-mouse-brain
#12
Fuxin Lu, Jun Zhu, Selena Guo, Brandon J Wong, Farid F Chehab, Donna M Ferriero, Xiangning Jiang
BackgroundMaintenance of cholesterol homeostasis is crucial for brain development. Brain cholesterol relies on de novo synthesis and is cleared primarily by conversion to 24S-hydroxycholesterol (24S-HC) with brain-specific cholesterol 24-hydroxylase (CYP46A1). We aimed to investigate the impact of hypoxia-ischemia (HI) on brain cholesterol metabolism in the neonatal mice.MethodsPostnatal day 9 C57BL/6 pups were subjected to HI using the Vannucci model. CYP46A1 expression was assessed with western blotting and its cellular localization was determined using immunofluorescence staining...
May 2, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29714433/peritoneal-dialysis-in-neonates-six-years-of-single-center-experience
#13
Ferda Özlü, Hacer Yapıcıoğlu Yıldızdaş, Gül Şeker, Hüseyin Şimşek, Aysun Karabay Bayazıt, Mehmet Satar
Background/aim: Peritoneal dialysis (PD) is generally considered the practical dialysis modality for neonates in the treatment of acute kidney injury (AKI) and metabolic disturbances. The aim of this study was to evaluate the indications, complications, and outcomes of PD between January 2011 and December 2016. Materials and methods: This study included all 56 neonates that underwent PD over six years in our neonatal intensive care unit (NICU). A retrospective chart review was performed for all patients in our institution...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29696052/novel-imaging-finding-and-novel-mutation-in-an-infant-with-molybdenum-cofactor-deficiency-a-mimicker-of-hypoxic-ischaemic-encephalopathy
#14
Sangeetha Yoganathan, SniyaVALSA Sudhakar, Maya Thomas, Atanu Kumar Dutta, Sumita Danda, Mahalakshmi Chandran
Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadriparesis and visual insufficiency. Magnetic resonance imaging of brain had shown cystic encephalomalacia involving bilateral parieto-occipital lobe and elevated lactate in magnetic resonance spectroscopy. Restricted diffusion noted along the corticospinal tract in our case is a novel imaging finding in patients with molybdenum cofactor deficiency...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29688583/safe-use-of-proton-pump-inhibitors-in-patients-with-cirrhosis
#15
Rianne A Weersink, Margriet Bouma, David M Burger, Joost P H Drenth, S Froukje Harkes-Idzinga, Nicole G M Hunfeld, Herold J Metselaar, Margje H Monster-Simons, Sandra A W van Putten, Katja Taxis, Sander D Borgsteede
AIMS: Proton pump inhibitors (PPIs) belong to the most frequently used drugs, also in patients with cirrhosis. PPIs are extensively metabolized by the liver, but practice guidance on prescribing in cirrhosis is lacking. We aim to develop practical guidance on the safe use of PPIs in cirrhosis. METHODS: A systematic literature search identified studies about the safety (i.e. adverse events) and pharmacokinetics of PPIs in cirrhotic patients. This evidence and data from the product information was reviewed by an expert panel who classified drugs as safe; no additional risks known; additional risks known; unsafe; or unknown...
April 24, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29686575/conservative-management-of-severe-serotonin-syndrome-with-coma-myoclonus-and-crossed-extensor-reflex-complicated-by-hepatic-encephalopathy
#16
Vignesh Ramachandran, Belicia Ding, Rollin George, Matthew Novakovic
Serotonin syndrome (SS) is an underrecognized and potentially fatal disorder that occurs secondary to combinational use or overdose of a single serotonergic medication. The presentation may be complicated by hepatic encephalopathy in cirrhotic patients, which may also affect metabolism of these serotonergic agents. The authors report a rare case of severe SS complicated by hepatic encephalopathy secondary to cirrhosis in a 52-year-old woman after an increase in her home dosage of fluoxetine and addition of other psychiatric medications...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29684966/-nutritional-assessment-and-management-for-patients-with-chronic-liver-disease
#17
REVIEW
Tae Hee Lee
When liver disease is severe, the prognosis can be worse if the patient is malnourished. Adequate nutritional support for patients with liver diseases can improve the patient's condition and prognosis. In the case of liver cirrhosis, malnutrition can occur due to a variety of causes, including poor oral intake, maldigestion, malabsorption, associated renal disease, and metabolic abnormalities. For a nutritional assessment, it is important to check the dietary intake, change in body composition, including anthropometry, and a functional assessment of muscle...
April 25, 2018: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/29678162/tacrolimus-induced-parkinsonism-in-a-patient-after-liver-transplantation-case-report
#18
Karin Gmitterová, Michal Minár, Miroslav Žigrai, Zuzana Košutzká, Alice Kušnírová, Peter Valkovič
BACKGROUND: Hepatic encephalopathy may manifest by a wide spectrum of neuropsychiatric symptoms, including cognitive impairment, seizures or extrapyramidal symptoms. The liver transplant can lead to improvement of the signs of encephalopathy but subsequent immunosuppressive treatment might possess pronounced neurotoxicity. CASE PRESENTATION: We present a case report of a patient with chronic liver disease who developed signs of Parkinsonism after an orthotopic liver transplant, with consecutive immunosuppressant treatment with tacrolimus...
April 20, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29668681/a-longitudinal-1h-nmr-metabolomics-analysis-of-urine-from-newborns-with-hypoxic-ischemic-encephalopathy-undergoing-hypothermia-therapy-clinical-and-medical-legal-insights
#19
Emanuela Locci, Antonio Noto, Melania Puddu, Giulia Pomero, Roberto Demontis, Cristina Dalmazzo, Antonio Delogu, Vassilios Fanos, Ernesto d'Aloja, Paolo Gancia
Perinatal asphyxia is an event affecting around four million newborns worldwide. The 0.5 to 2 per 1000 of full term asphyxiated newborns suffer from hypoxic-ischemic encephalopathy (HIE), which is a frequent cause of death or severe disability and, as consequence, the most common birth injury claim for obstetrics, gynaecologists, and paediatricians. Perinatal asphyxia results from a compromised gas exchange that leads to hypoxemia, hypercapnia, and metabolic acidosis. In this work, we applied a metabolomics approach to investigate the metabolic profiles of urine samples collected from full term asphyxiated newborns with HIE undergoing therapeutic hypothermia (TH), with the aim of identifying a pattern of metabolites associated with HIE and to follow their modifications over time...
2018: PloS One
https://www.readbyqxmd.com/read/29629676/a-proposed-management-algorithm-for-late-onset-efavirenz-neurotoxicity
#20
H M Cross, S Chetty, M T Asukile, H S Hussey, E B Lee Pan, L M Tucker
A high proportion of HIV-positive patients in South Africa receive concomitant efavirenz (EFV) and isoniazid (INH) therapy. EFV is metabolised in the liver via CYP2B6, and genetic polymorphism of CYP2B6 is known to result in slowed metabolism of the drug. INH is also metabolised in the liver, causing inhibition of a pathway that plays an important role in slow EFV metabolisers. Concomitant INH use therefore affects plasma levels of EFV. EFV is well known to cause neuropsychiatric side-effects on initiation, and a recent adult case series described late-onset neurotoxicity in the form of subacute ataxia and encephalopathy in patients treated with EFV for a median of 2 years, in association with toxic plasma levels of the drug...
March 28, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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