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metabolic encephalopathy

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https://www.readbyqxmd.com/read/28811719/refractory-hepatic-encephalopathy-in-a-patient-with-hypothyroidism-another-element-in-ammonia-metabolism
#1
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
https://www.readbyqxmd.com/read/28807341/ultrastructural-examination-of-skin-biopsies-may-assist-in-diagnosing-mitochondrial-cytopathy-when-muscle-biopsies-yield-negative-results
#2
John L McAfee, Christine B Warren, Richard A Prayson
Ultrastructural evaluation of skin biopsies has been utilized for diagnosis of mitochondrial disease. This study investigates how frequently skin biopsies reveal mitochondrial abnormalities, correlates skin and muscle biopsy findings, and describes clinical diagnoses rendered following the evaluation. A retrospective review of surgical pathology reports from 1990 to 2015 identified skin biopsies examined by electron microscopy for suspected metabolic disease. A total of 630 biopsies were included from 615 patients...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#3
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28794088/ventilator-respiratory-graphic-diagnosis-of-hiccupping-in-non-ketotic-hyperglycinaemia
#4
Eliana Panayiotou, Kelly Spike, Colin Morley, Gusztav Belteki
A neonate presented with early encephalopathy deteriorated and was intubated and ventilated. Ventilator data were monitored and recorded at 100 Hz for 24 hours.The infant had many sudden deep inspirations during this time which were initially thought to be seizures. These were characterised by short, rapid, large inspirations when the airway pressure was reduced well below the positive end expiratory pressure level. Analysis of the ventilator data showed that these were hiccupping episodes misinterpreted by the ventilator as spontaneous breaths and triggering ventilator inflations...
August 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28792650/oral-oxycodone-naloxone-for-pain-control-in-liver-cirrhosis-observational-study-in-patients-with-symptomatic-metastatic-hepatocellular-carcinoma
#5
Francesco Tovoli, Stefania De Lorenzo, Boaz Gedaliahu Samolsky Dekel, Fabio Piscaglia, Francesca Benevento, Giovanni Brandi, Luigi Bolondi
BACKGROUND & AIMS: Pain management in liver cirrhosis is a clinical challenge. Most analgesics are metabolized in the liver and cirrhosis may deeply alter their concentration, favoring the appearance of side effects. We aimed to assess the efficacy and safety of oral prolonged-release association of oxycodone/naloxone tablets (OXN) in the treatment of moderate/severe cancer pain in cirrhotic patients with metastatic hepatocellular carcinoma (HCC). METHODS: We enrolled n=32 HCC patients with moderate/severe cancer pain unresponsive to paracetamol alone or associated with codeine or tramadol...
August 9, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28782427/berberine-improves-diabetic-encephalopathy-through-sirt1-er-stress-pathway-in-db-db-mice
#6
Hong-Ying Li, Xin-Chen Wang, Yu-Min Xu, Na-Chuan Luo, Si Luo, Xu-Yi Hao, Shu-Yi Cheng, Jian-Song Fang, Qi Wang, Shi-Jie Zhang, Yun-Bo Chen
The association between diabetes and dementia has been well-demonstrated by epidemiologic studies. Berberine (BBR) has been reported to ameliorate diabetes and diabetic encephalopathy (DE). However, the mechanism is still unknown. In this study, we employ a diabetic model, db/db mice, to explore whether BBR could protect DE through SIRT1/endoplasmic reticulum (ER) stress pathway. The behavioral results (Morris water maze, Y-maze spontaneous alternation test and fearing condition test) showed that oral administration of BBR (50 mg/kg) improved the learning and memory ability...
August 7, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28781079/rapid-generation-of-human-genetic-loss-of-function-ipsc-lines-by-simultaneous-reprogramming-and-gene-editing
#7
Andrew M Tidball, Louis T Dang, Trevor W Glenn, Emma G Kilbane, Daniel J Klarr, Joshua L Margolis, Michael D Uhler, Jack M Parent
Specifically ablating genes in human induced pluripotent stem cells (iPSCs) allows for studies of gene function as well as disease mechanisms in disorders caused by loss-of-function (LOF) mutations. While techniques exist for engineering such lines, we have developed and rigorously validated a method of simultaneous iPSC reprogramming while generating CRISPR/Cas9-dependent insertions/deletions (indels). This approach allows for the efficient and rapid formation of genetic LOF human disease cell models with isogenic controls...
July 24, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28779862/neurological-complications-of-renal-disease
#8
Jorge H Baluarte
Neurological manifestations related to electrolyte disorders, drug toxicity, and uremia are common in chronic kidney disease (CKD). Seizures and coma are frequent complications of acute renal insufficiency (uremia), whereas peripheral neuropathy and encephalopathy, observed in progressive uremia, are terminal events. Failure to excrete metabolic products causes their accumulation and can lead to severe intoxication. Clinically, the signs and symptoms of uremia can vary widely, depending on the biological characteristics of the patient, the specific type of renal disease, and the time of the uremic intoxication...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28768552/a-mild-form-of-adenylosuccinate-lyase-deficiency-in-absence-of-typical-brain-mri-features-diagnosed-by-whole-exome-sequencing
#9
Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
BACKGROUND: Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The most severe form is characterized by neonatal encephalopathy, absence of spontaneous movement, respiratory failure, intractable seizures, and early death within the first weeks of life...
August 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28765488/wernicke%C3%A3-%C3%A2-%C3%A2-s-encephalopathy-associated-with-liver-abscess
#10
Rajesh Verma, Vipul Garg
Wernicke's encephalopathy is a rare neurological disorder caused by thiamine deficiency, characterised by ocular motor dysfunction, ataxia and impairment in consciousness. It predominantly affects brain regions with a high metabolic rate such as mammillary bodies, medial thalamic nuclei, the tectal region and the cerebellum. Although chronic alcoholism is the most common cause of Wernicke's encephalopathy, various other conditions not related to alcohol consumption such as bariatric surgery, acute pancreatitis, hyperemesis gravidarum, prolonged fasting and gastrointestinal surgery have been implicated in its aetiology...
July 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28757203/biallelic-mutations-in-lipt2-cause-a-mitochondrial-lipoylation-defect-associated-with-severe-neonatal-encephalopathy
#11
Florence Habarou, Yamina Hamel, Tobias B Haack, René G Feichtinger, Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J Rodenburg, G Christoph Korenke, Thomas Meitinger, Tim M Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A Mayr, Pascale de Lonlay
Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α-KGDHc] and pyruvate dehydrogenase [PDHc]), or amino acid metabolism (branched-chain oxoacid dehydrogenase, 2-oxoadipate dehydrogenase). Mitochondrial lipoate synthesis involves three enzymatic steps catalyzed sequentially by lipoyl(octanoyl) transferase 2 (LIPT2), lipoic acid synthetase (LIAS), and lipoyltransferase 1 (LIPT1). Mutations in LIAS have been associated with nonketotic hyperglycinemia-like early-onset convulsions and encephalopathy combined with a defect in mitochondrial energy metabolism...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28755360/mitochondrial-encephalopathy-and-transient-3-methylglutaconic-aciduria-in-echs1-deficiency-long-term-follow-up
#12
Irene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, Frédéric M Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The
We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial encephalopathy. Motor and cognitive development was severely delayed and brain MRI showed signal abnormalities in the putamen and caudate nuclei. Metabolic abnormalities included 3-methylglutaconic aciduria and elevated lactate levels in plasma and cerebrospinal fluid, but were transient. Whole exome sequencing at the age of 25 years finally revealed compound heterozygous mutations c...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28747166/cascade-fumarate-hydratase-mutation-screening-allows-early-detection-of-kidney-tumour-a-case-report
#13
Melanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W H Bates, Daniel P Gale
BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC)...
July 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28745680/-the-decreased-level-of-plasma-carnitine-in-patients-with-epilepsy
#14
E D Belousova
Antiepileptic drugs (AEDs) have long been known to affect carnitine metabolism, dropping the plasma free carnitine. Valproate (VPA) was considered to be the strongest carnitine-reducing agent. VPA-induced hyperammonemic encephalopathy and hepatotoxicity are well known, and pre-existing carnitine deficiency can be a predisposing factor, especially in congenital metabolic disorders. Several studies have shown that carnitine supplementation in patients receiving VPA to result in subjective and objective improvements and to prevent VPA-induced hepatotoxicity and encephalopathy, in parallel with increases in carnitine serum concentrations...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28741035/biomarkers-of-hepatic-injury-and-function-in-neonatal-hypoxic-ischemic-encephalopathy-and-with-therapeutic-hypothermia
#15
Hemananda Muniraman, Danielle Gardner, Jane Skinner, Anna Paweletz, Anitha Vayalakkad, Ying Hui Chee, Clare Clifford, Sunil Sanka, Vidheya Venkatesh, Anna Curley, Suresh Victor, Mark A Turner, Paul Clarke
Therapeutic hypothermia (TH) is now provided as standard care to infants with moderate-severe hypoxic ischemic encephalopathy (HIE). The role of TH in limiting neuronal injury is well recognized, but its effect on hepatic injury which occurs frequently in neonatal HIE is not known. Our objective was to characterize biomarkers of liver injury and function in the setting of neonatal HIE and to describe whether HIE severity and provision of TH influence these hepatic biomarkers. We performed a multicenter retrospective study and compared hepatic biomarkers obtained during the first postnatal week, according to the severity of HIE and whether treated with TH...
July 24, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28739602/loss-of-prion-protein-is-associated-with-the-development-of-insulin-resistance-and-obesity
#16
Giovanna Brito, Fernada C S Lupinacci, Flávio H Beraldo, Tiago G Santos, Martin Roffé, Marilene H Lopes, Vladmir C C de Lima, Vilma R Martins, Glaucia N M Hajj
Prion protein (PrP(C)) was initially described due to its involvement in transmissible spongiform encephalopathies. It was subsequently demonstrated to be a cell surface molecule involved in many physiological processes, such as vesicle trafficking. Herein, we investigated the roles of PrP(C) in the response to insulin and obesity development.  Two independent PrP(C) knockout (KO) and one PrP(C) overexpressing (TG20) mouse models were fed high-fat diets, and the development of insulin resistance and obesity was monitored...
July 24, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28725183/bile-acid-mediated-sphingosine-1-phosphate-receptor-2-signaling-promotes-neuroinflammation-during-hepatic-encephalopathy-in-mice
#17
Matthew McMillin, Gabriel Frampton, Stephanie Grant, Shamyal Khan, Juan Diocares, Anca Petrescu, Amy Wyatt, Jessica Kain, Brandi Jefferson, Sharon DeMorrow
Hepatic encephalopathy (HE) is a neuropsychiatric complication that occurs due to deteriorating hepatic function and this syndrome influences patient quality of life, clinical management strategies and survival. During acute liver failure, circulating bile acids increase due to a disruption of the enterohepatic circulation. We previously identified that bile acid-mediated signaling occurs in the brain during HE and contributes to cognitive impairment. However, the influences of bile acids and their downstream signaling pathways on HE-induced neuroinflammation have not been assessed...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28722418/urine-metabonomics-reveals-early-biomarkers-in-diabetic-cognitive-dysfunction
#18
Lili Song, Pengwei Zhuang, Mengya Lin, Mingqin Kang, Hongyue Liu, Yuping Zhang, Zhen Yang, Yunlong Chen, Yanjun Zhang
Recently, increasing attention has been paid to diabetic encephalopathy which is one of frequent diabetic complications and affects nearly 30% diabetics. Since cognitive dysfunction from diabetic encephalopathy might develop irreversible dementia, early diagnosis and detection of this disease is of great significance for its prevention and treatment. This study is to investigate the early specific metabolites biomarkers in the urine prior to the onset of diabetic cognitive dysfunction (DCD) by using metabolomics technology...
July 19, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#19
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28718068/dengue-encephalopathy-very-unusual-neuroimaging-findings
#20
Ravindra Kumar Garg, Hardeep Singh Malhotra, Amita Jain, Neeraj Kumar
Neuroimaging, in many patients with dengue encephalopathy, may reveal periventricular signal changes. We report a 25-year-old man, who presented with altered sensorium. Dengue-IgM test in serum was positive. Cerebrospinal fluid examination was normal. MRI brain revealed presence of bilateral parieto-occipital intraparenchymal bleed with mass effect. Neuroimaging was consistent with posterior reversible encephalopathy syndrome. We report posterior reversible encephalopathy syndrome in a normotensive patient with dengue encephalopathy and systemic metabolic alterations...
July 17, 2017: Journal of Neurovirology
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