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metabolic encephalopathy

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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28540694/wernicke-s-encephalopathy-in-exclusive-breastfed-infants
#2
Javeed Iqbal Bhat, Qazi Iqbal Ahmed, Ambreen Ali Ahangar, Bashir Ahmed Charoo, Mushtaq Ahmad Sheikh, Wajid Ali Syed
BACKGROUND: Kashmir has a population that largely consumes polished rice which is deficient in thiamine. Furthermore, lactating women in this region are prone to severe thiamine deficiency because of their traditional food avoidance practices. Infantile beriberi is common in exclusively breastfed infants of thiamine deficient mothers in Kashmir. METHODS: This was a one year prospective hospital-based study. We included 50 exclusively breastfed infants in our study...
May 24, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28540205/clinicopathological-spectrum-of-snake-bite-induced-acute-kidney-injury-from-india
#3
Sanjay Vikrant, Ajay Jaryal, Anupam Parashar
AIM: To study the clinico-pathological spectrum of snake bite-induced acute kidney injury (AKI). METHODS: A retrospective study of patients admitted at Indira Gandhi Medical College Hospital, Shimla with snake bite-induced AKI from July 2003 to June 2016. Medical records were evaluated for patient's information on demographic, clinical characteristics, complications and outcome. Outcomes of duration of hospital stay, requirement for intensive care unit support, treatment with dialysis, survival and mortality were analyzed...
May 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28533911/hepatic-encephalopathy
#4
Peter Ferenci
Hepatic encephalopathy (HE) is a reversible syndrome of impaired brain function occurring in patients with advanced liver diseases. The precise pathophysiology of HE is still under discussion; the leading hypothesis focus on the role of neurotoxins, impaired neurotransmission due to metabolic changes in liver failure, changes in brain energy metabolism, systemic inflammatory response and alterations of the blood brain barrier. HE produces a wide spectrum of nonspecific neurological and psychiatric manifestations...
May 2017: Gastroenterology Report
https://www.readbyqxmd.com/read/28526948/an-innovative-strategy-to-clone-positive-modifier-genes-of-defects-caused-by-mtdna-mutations-mrps18c-as-suppressor-gene-of-m-3946g-a-mutation-in-mt-nd1-gene
#5
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Francisco Martínez-Azorín
We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically...
May 19, 2017: Human Genetics
https://www.readbyqxmd.com/read/28526536/trastuzumab-emtansine-versus-capecitabine-plus-lapatinib-in-patients-with-previously-treated-her2-positive-advanced-breast-cancer-emilia-a-descriptive-analysis-of-final-overall-survival-results-from-a-randomised-open-label-phase-3-trial
#6
Véronique Diéras, David Miles, Sunil Verma, Mark Pegram, Manfred Welslau, José Baselga, Ian E Krop, Kim Blackwell, Silke Hoersch, Jin Xu, Marjorie Green, Luca Gianni
BACKGROUND: The antibody-drug conjugate trastuzumab emtansine is indicated for the treatment of patients with HER2-positive metastatic breast cancer previously treated with trastuzumab and a taxane. Approval of this drug was based on progression-free survival and interim overall survival data from the phase 3 EMILIA study. In this report, we present a descriptive analysis of the final overall survival data from that trial. METHODS: EMILIA was a randomised, international, open-label, phase 3 study of men and women aged 18 years or older with HER2-positive unresectable, locally advanced or metastatic breast cancer previously treated with trastuzumab and a taxane...
May 16, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28524225/-how-must-we-manage-epileptic-encephalopathies-in-infants-conclusions
#7
V Soto-Insuga
Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#8
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#9
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524220/-metabolic-approach-in-epileptic-encephalopathies-in-infants
#10
L Lopez-Marin
INTRODUCTION: Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. DEVELOPMENT: We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their biochemical markers and their treatment. CONCLUSIONS: It is important to think about the possibility of an inborn error of metabolism with a specific therapy, since it is crucial for this to be started as soon as possible in order to prevent permanent neurological damage...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#11
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523351/severity-specific-alterations-in-cbf-oef-and-cmro2-in-cirrhotic-patients-with-hepatic-encephalopathy
#12
Gang Zheng, Hanzhang Lu, Wenkui Yu, Song Luo, Ya Liu, Wei Liu, Hui Liu, Long Wu, Lijuan Zheng, Xiang Kong, Long Jiang Zhang, Guang Ming Lu
OBJECTIVES: To assess how the severity of hepatic encephalopathy (HE) affects perfusion and metabolic changes in cirrhotic patients and the association between severity and liver disease and anemia. METHODS: The study groups comprised 31 healthy subjects and 33 cirrhotic patients who underwent MR examinations, and blood and neuropsychological tests. Of the cirrhotic patients, 14 were unaffected, and 11 had covert HE (CHE) and 8 overt HE (OHE). Global cerebral blood flow (CBF), oxygen extraction fraction (OEF), and metabolic rate of oxygen (CMRO2) were noninvasively measured by phase-contrast and T2-relaxation-under-spin-tagging MRI...
May 18, 2017: European Radiology
https://www.readbyqxmd.com/read/28520619/late-efavirenz-induced-ataxia-and-encephalopathy-a-case-series
#13
Ebrahim Variava, Farai R Sigauke, Jennifer Norman, Modiehi Rakgokong, Petudzai Muchichwa, Andre Mochan, Gary Maartens, Neil A Martinson
BACKGROUND: WHO treatment guidelines recommend efavirenz in first line antiretroviral therapy (ART). Efavirenz commonly causes early transient neuro-psychiatric adverse events. We present 20 cases with severe encephalopathy accompanied by ataxia due to efavirenz toxicity METHODS:: Consecutive HIV-infected adults taking efavirenz-containing ART admitted to Tshepong hospital, Klerksdorp, South Africa with ataxia and encephalopathy were included in this case series. RESULTS: We identified 20 women admitted to hospital with severe ataxia...
May 17, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28513609/application-of-rare-variant-transmission-disequilibrium-tests-to-epileptic-encephalopathy-trio-sequence-data
#14
(no author information available yet)
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28507634/multi-system-complications-after-intravenous-cocaine-abuse
#15
Lidija Petkovska, Andon Chibishev, Aleksandra Stevcevska, Ivica Smokovski, Dusan Petkovski, Emilija Antova
BACKGROUND: Use and abuse of cocaine are associated with numerous adverse effects, independent of the route of administration. More severe conditions of poisoning, however, are observed after cocaine intravenous administration. AIM: We present a case of severe poisoning after violent intravenous injection of cocaine, but with a good outcome. CASE PRESENTATION: Cocaine was intravenously (i.v.) administered in 16-years old female patient as a homicide attempt...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28506823/hyperammonemia-compromises-glutamate-metabolism-and-reduces-bdnf-in-the-rat-hippocampus
#16
Fabiana Galland, Elisa Negri, Carollina Da Ré, Fernanda Fróes, Liliane Strapazzon, Maria Cristina Guerra, Lucas Silva Tortorelli, Carlos-Alberto Gonçalves, Marina Concli Leite
Ammonia is putatively the major toxin associated with hepatic encephalopathy (HE), a neuropsychiatric manifestation that results in cognitive impairment, poor concentration and psychomotor alterations. The hippocampus, a brain region involved in cognitive impairment and depressive behavior, has been studied less than neocortical regions. Herein, we investigated hippocampal astrocyte parameters in a hyperammonemic model without hepatic lesion and in acute hippocampal slices exposed to ammonia. We also measured hippocampal BDNF, a neurotrophin commonly related to synaptic plasticity and cognitive deficit, and peripheral S100B protein, used as a marker for brain damage...
May 12, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28501971/electrolyte-and-acid-base-disturbances-in-end-stage-liver-disease-a-physiopathological-approach
#17
REVIEW
José Víctor Jiménez, Diego Luis Carrillo-Pérez, Rodrigo Rosado-Canto, Ignacio García-Juárez, Aldo Torre, David Kershenobich, Eduardo Carrillo-Maravilla
Electrolyte and acid-base disturbances are frequent in patients with end-stage liver disease; the underlying physiopathological mechanisms are often complex and represent a diagnostic and therapeutic challenge to the physician. Usually, these disorders do not develop in compensated cirrhotic patients, but with the onset of the classic complications of cirrhosis such as ascites, renal failure, spontaneous bacterial peritonitis and variceal bleeding, multiple electrolyte, and acid-base disturbances emerge. Hyponatremia parallels ascites formation and is a well-known trigger of hepatic encephalopathy; its management in this particular population poses a risky challenge due to the high susceptibility of cirrhotic patients to osmotic demyelination...
May 13, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28494460/persistently-altered-metabolic-phenotype-following-perinatal-excitotoxic-brain-injury
#18
Benjamin J Blaise, Leslie Schwendimann, Vibol Chhor, Vincent Degos, Mark P Hodson, Guido Dallmann, Matthias Keller, Pierre Gressens, Bobbi Fleiss
Excitotoxicity plays a key role during insults to the developing brain such as neonatal encephalopathy, stroke, and encephalopathy of prematurity. Such insults affect many thousands of infants each year. Excitotoxicity causes frank lesions due to cell death and gliosis and disturbs normal developmental process, leading to deficits in learning, memory, and social integration that persist into adulthood. Understanding the underlying processes of the acute effects of excitotoxicity and its persistence during brain maturation provides an opportunity to identify mechanistic or diagnostic biomarkers, thus enabling and designing possible therapies...
May 12, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28466149/potentially-modifiable-factors-contributing-to-sepsis-associated-encephalopathy
#19
Romain Sonneville, Etienne de Montmollin, Julien Poujade, Maïté Garrouste-Orgeas, Bertrand Souweine, Michael Darmon, Eric Mariotte, Laurent Argaud, François Barbier, Dany Goldgran-Toledano, Guillaume Marcotte, Anne-Sylvie Dumenil, Samir Jamali, Guillaume Lacave, Stéphane Ruckly, Bruno Mourvillier, Jean-François Timsit
PURPOSE: Identifying modifiable factors for sepsis-associated encephalopathy may help improve patient care and outcomes. METHODS: We conducted a retrospective analysis of a prospective multicenter database. Sepsis-associated encephalopathy (SAE) was defined by a score on the Glasgow coma scale (GCS) <15 or when features of delirium were noted. Potentially modifiable risk factors for SAE at ICU admission and its impact on mortality were investigated using multivariate logistic regression analysis and Cox proportional hazard modeling, respectively...
May 2, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28456145/autophagy-plays-beneficial-effect-on-diabetic-encephalopathy-in-type-2-diabetes-studies-in-vivo-and-in-vitro
#20
Yu-Hong Jing, Lang Zhang, Li-Ping Gao, Chu-Chu Qi, Dan-Dan Lv, Yan-Feng Song, Jie Yin, De-Gui Wang
OBJECTIVES: The hypothalamus regulates metabolism and feeding behavior by perceiving the levels of peripheral insulin. However, little is known about the hypothalamic changes after aberrant metabolism. In this study, we investigated the changes of insulin and autophagy relevant signals of hypothalamus under diabetes mellitus. METHODS: C57B/L mice were injected with low-dose streptozotocin (STZ) and fed with high-fat diet to induce type 2 diabetes mellitus. In vitro, PC12 cells were treated with oleic acid to mimic lipotoxicity...
February 15, 2017: Neuro Endocrinology Letters
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