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Hyperammonemia

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https://www.readbyqxmd.com/read/28319158/a-morphological-method-for-ammonia-detection-in-liver
#1
Virginia Gutiérrez-de-Juan, Sergio López de Davalillo, David Fernández-Ramos, Lucía Barbier-Torres, Imanol Zubiete-Franco, Pablo Fernández-Tussy, Jorge Simon, Fernando Lopitz-Otsoa, Javier de Las Heras, Paula Iruzubieta, María Teresa Arias-Loste, Erica Villa, Javier Crespo, Raúl Andrade, M Isabel Lucena, Marta Varela-Rey, Shelly C Lu, José M Mato, Teresa Cardoso Delgado, María-Luz Martínez-Chantar
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia and a common event in acute liver injury/failure and chronic liver disease. Even though hepatic ammonia levels are potential predictive factors of patient outcome, easy and inexpensive methods aiming at the detection of liver ammonia accumulation in the clinical setting remain unavailable. Thus, herein we have developed a morphological method, based on the utilization of Nessler´s reagent, to accurately and precisely detect the accumulation of ammonia in biological tissue...
2017: PloS One
https://www.readbyqxmd.com/read/28302489/modelling-urea-cycle-disorder-citrullinemia-type-1-with-disease-specific-ipscs
#2
Elena Yukie Yoshitoshi-Uebayashi, Taro Toyoda, Katsutaro Yasuda, Maki Kotaka, Keiko Nomoto, Keisuke Okita, Kentaro Yasuchika, Shinya Okamoto, Noriyuki Takubo, Toshiya Nishikubo, Tomoyoshi Soga, Shinji Uemoto, Kenji Osafune
Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns. Therapeutic options are limited, and neurological sequelae may persist. To understand the pathophysiology and find novel treatments, induced pluripotent stem cells (iPSCs) were generated from a CTLN1 patient and differentiated into hepatocyte-like cells (HLCs)...
March 14, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28298669/veno-venous-extracorporeal-membrane-oxygenation-for-continuous-renal-replacement-in-a-neonate-with-propionic-acidemia
#3
Jeffrey W Gander, Erika T Rhone, William G Wilson, John P Barcia, Melissa J Sacco
The usual indications for extra corporeal membrane oxygenation (ECMO) are for respiratory or cardiac failure. Although continuous renal replacement therapy (CRRT) is frequently used when patients are on ECMO, the need for CRRT as the primary indication for ECMO is rare. A case of a neonate placed onto veno-venous ECMO for the use of CRRT to treat hyperammonemia from propionic acidemia is presented.
March 2017: Journal of Extra-corporeal Technology
https://www.readbyqxmd.com/read/28295601/idiopathic-hyperammonemia-after-solid-organ-transplantation-primarily-a-lung-problem-a-single-center-experience-and-systematic-review
#4
Dustin Krutsinger, Alejandro Pezzulo, Amy E Blevins, Robert M Reed, Michael Voigt, Michael Eberlein
BACKGROUND: Idiopathic hyperammonemia syndrome (IHS) is an uncommon, often deadly complication of solid organ transplantation. IHS cases in solid organ transplantation seem to occur predominantly in lung transplant (LTx) recipients. However to the best of our knowledge the occurrence of IHS has not been systematically evaluated. We set out to identify all reported cases of IHS following non-liver solid organ transplantations. METHODS: Retrospective review of our institutional experience and systematic review of the literature...
March 10, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28293384/hyperammonemia-crisis-following-parturition-in-a-female-patient-with-ornithine-transcarbamylase-deficiency
#5
Jun Kido, Tatsuya Kawasaki, Hiroshi Mitsubuchi, Hidenobu Kamohara, Takashi Ohba, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female patient with OTCD from hyperammonemic crisis after she gave birth. Hyperammonemia after parturition in a female patient with OTCD can be fatal, and this type of hyperammonemia persists for an extended period of time...
February 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28283328/carnosine-ameliorates-liver-fibrosis-and-hyperammonemia-in-cirrhotic-rats
#6
Akram Jamshidzadeh, Reza Heidari, Zahra Latifpour, Mohammed Mehdi Ommati, Narges Abdoli, Somayeh Mousavi, Negar Azarpira, Azita Zarei, Mahdi Zarei, Behnam Asadi, Mojgan Abasvali, Yasaman Yeganeh, Faezeh Jafari, Arastoo Saeedi, Asma Najibi, Elnaz Mardani
AIM: Chronic liver injury and cirrhosis leads to liver failure. Hyperammonemia is a deleterious consequence of liver failure. On the other hand, oxidative stress seems to play a pivotal role in the pathogenesis of liver fibrosis as well as in the cytotoxic mechanism of ammonia. There is no promising therapeutic agent against ammonia-induced complications. The present study was conducted to evaluate the role of carnosine (CA) administration on liver pathological changes, elevated plasma ammonia, and its consequent events in cirrhotic rats...
March 7, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28281899/targeting-cps1-in-the-treatment-of-carbamoyl-phosphate-synthetase-1-cps1-deficiency-a-urea-cycle-disorder
#7
Carmen Diez-Fernandez, Johannes Häberle
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients. Over recent decades, therapies for CPS1D have barely improved leaving the management of these patients largely unchanged. Additionally, in many cases, current management (protein-restriction and supplementation with citrulline and/or arginine and ammonia scavengers) is insufficient for achieving metabolic stability, highlighting the importance of developing alternative therapeutic approaches...
April 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28275973/normal-neurological-development-during-infancy-despite-massive-hyperammonemia-in-early-treated-nags-deficiency
#8
Hallvard Reigstad, Berit Woldseth, Johannes Häberle
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated. An ammonia of 2,235 μmol/l was found, and treatment with sodium benzoate, sodium phenylacetate, arginine, glucose, and N-carbamylglutamate (NCG, Carbaglu(®)) was started...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28270654/a-proposed-physiopathological-pathway-to-hyperammonemic-encephalopathy-in-a-non-cirrhotic-patient-with-fibrolamellar-hepatocellular-carcinoma-without-ornithine-transcarbamylase-otc-mutation
#9
Rodrigo C Surjan, Elizabeth S Dos Santos, Tiago Basseres, Fabio F Makdissi, Marcel A Machado
BACKGROUND Hyperammonemic encephalopathy is a potentially fatal condition that may progress to irreversible neuronal damage and is usually associated with liver failure or portosystemic shunting. However, other less common conditions can lead to hyperammonemia in adults, such as fibrolamellar hepatocellular carcinoma. Clinical awareness of hyperammonemic encephalopathy in patients with normal liver function is paramount to timely diagnosis, but understanding the underlying physiopathology is decisive to initiate adequate treatment for complete recovery...
March 8, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28266016/clinical-and-mutation-analysis-of-24-chinese-patients-with-ornithine-transcarbamylase-deficiency
#10
Yongxian Shao, Minyan Jiang, Yunting Lin, Huifen Mei, Wen Zhang, Yanna Cai, Xueying Shu, Hao Hu, Xiuzhen Li, Li Liu
The principal aim of this study was to examine the clinical manifestations, biochemical features, and molecular genetic characteristics of Chinese patients with ornithine transcarbamylase deficiency (OTCD) at a single medical center. We retrospectively analyzed 24 patients (17 males and 7 females) diagnosed with OTCD between 2006 and 2015. Five male patients had a neonatal presentation; 12 male patients had late onset disease and 7 female patients presented as symptomatic. Patients with a neonatal presentation had the highest peak plasma ammonia and glutamine levels at diagnosis with a high mortality (80% versus 16% in late onset disease)...
March 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28265840/characterization-of-the-ca1-pyramidal-neurons-in-rat-model-of-hepatic-cirrhosis-insights-into-their-electrophysiological-properties
#11
Mahshid Tahamtan, Iraj Aghaei, Vahid Pooladvand, Vahid Sheibani, Mohammad Khaksari, Mohammad Shabani
Although the key contributors of altering neurological function in hepatic encephalopathy are relatively well known, the electrophysiological mechanism of CA1 damage, a key vulnerable area during hyperammonemia, have not yet been defined. Therefore, here we focus on the electrophysiological mechanisms of cognitive impairments following bile duct ligation (BDL). We performed patch-clamp recordings from the CA1 pyramidal neurons in hippocampus of male Wistar rats, which underwent sham or BDL surgery. A striking electrophysiological change of hippocampal neurons in experimental model of BDL was observed in the present study...
March 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28261508/urea-cycle-defects-early-onset-disease-associated-with-a208t-mutation-in-otc-gene-expanding-the-clinical-phenotype
#12
Ana Isabel Sánchez, Alejandra Rincón, Mary García, Fernando Suárez-Obando
Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28260151/the-effects-of-acute-copper-and-ammonia-challenges-on-ammonia-and-urea-excretion-by-the-blue-crab-callinectes-sapidus
#13
Alex M Zimmer, Marianna Basso Jorge, Chris M Wood, Camila M G Martins, Adalto Bianchini
Copper (Cu) is a persistent environmental contaminant that elicits several physiological disturbances in aquatic organisms, including a disruption in ammonia regulation. We hypothesized that exposure to Cu in a model crustacean (blue crab, Callinectes sapidus) acclimated to brackish water (2 ppt) would lead to hyperammonemia by stimulating an increase in ammonia production and/or by inhibiting ammonia excretion. We further hypothesized that urea production would represent an ammonia detoxification strategy in response to Cu...
April 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#14
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28228622/a-case-of-hyperammonemia-with-obstructive-urinary-tract-infection-by-urease-producing-bacteria
#15
Toshiaki Goda, Kotaro Watanabe, Junya Kobayashi, Yasuharu Nagai, Nobuyuki Ohara, Daisuke Takahashi
A 79-year-old woman was admitted emergently for disturbance of consciousness. Her consciousness level was Japan coma scale 20, and she presented with hypermyotonia. Brain magnetic resonance imaging and cerebrospinal fluid examination showed normal findings. Her blood tests showed an increased ammonia level of 291 μg/dl with normal liver function. We catheterized the bladder for urinary retention. Eight hours after admission, the blood level of ammonia decreased to 57 μg/dl and the patient's consciousness level improved...
February 22, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28224477/genistein-alleviates-neuroinflammation-and-restores-cognitive-function-in-rat-model-of-hepatic-encephalopathy-underlying-mechanisms
#16
Ajaz Ahmad Ganai, Mohammad Husain
Hepatic encephalopathy (HE) is a neuropsychiatric syndrome resulting from acute liver failure. Previously, we demonstrated hepatoprotective effects of genistein in D-galactosamine (D-GalN)-induced fulminant hepatic failure (FHF). In this study, we evaluated behavioural and neuroprotective effects of genistein in rat model of HE. HE was induced by intraperitonial administration of D-GalN (250 mg/kg BW) twice a week for 30 days Genistein was given as co-treatment through oral gavage daily at dose of 5 mg/kg BW...
February 21, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#17
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#18
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28204913/accumulation-of-alpha-fluoro-beta-alanine-and-fluoro-mono-acetate-in-a-patient-with-5-fluorouracil-associated-hyperammonemia
#19
Yoshitaka Nishikawa, Taro Funakoshi, Takahiro Horimatsu, Shin'ichi Miyamoto, Takeshi Matsubara, Motoko Yanagita, Shunsaku Nakagawa, Atsushi Yonezawa, Kazuo Matsubara, Manabu Muto
PURPOSE: High-dose 5-fluorouracil (5-FU) containing chemotherapy occasionally causes hyperammonemia and can be lethal. However, the mechanism of 5FU-associated hyperammonemia has not been known. The aim of this study was to reveal the pharmacokinetics of 5-FU-associated hyperammonemia in a recurrent colorectal cancer patient with end-stage renal disease (ESRD). METHODS: We experienced a case of hyperammonemia during mFOLFOX6 plus bevacizumab therapy for recurrent colorectal cancer...
February 15, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28177688/hepato-and-neuro-protective-influences-of-biopropolis-on-thioacetamide-induced-acute-hepatic-encephalopathy-in-rats
#20
Rasha E Mostafa, Abeer A A Salama, Rehab F Abdel-Rahman, Hanan A Ogaly
Hepatic encephalopathy (HE) is a neuropsychiatric syndrome that ultimately occurs as a complication of acute or chronic liver failure; accompanied by hyperammonemia. This study aimed to evaluate the potential of biopropolis as a hepato- and neuro-protective agent using thioacetamide (TAA)-induced acute HE in rats as a model. Sixty Wistar rats were divided into 5 groups: Group 1 (normal control) received only saline and paraffin oil. Group 2 (hepatotoxic control) received TAA (300 mg/kg, once). Groups 3, 4, and 5 received TAA followed by vitamin E (100 mg/kg) and biopropolis (100 and 200 mg/kg), respectively, daily for 30 days...
December 9, 2016: Canadian Journal of Physiology and Pharmacology
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