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Hyperammonemia

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Nifuroxazide attenuates experimentally-induced hepatic encephalopathy and the associated hyperammonemia and cJNk/caspase-8/TRAIL activation in rats.

Ahmed E Khodir, Eman Said,

Hyperammonemia is a serious metabolic disorder associating with hepatic encephalopathy (HE) which occurs secondary to several forms of liver injury ranging from simple acute liver failure (ALF) to its most serious form; cirrhosis. The resent study highlights the possible ameliorative effect of oral nifuroxazide (25 mg/kg) against experimentally induced ALF and ... Read more >>

Life Sci. (Life sciences)
[2020, :117610]

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Non-cirrhotic Extra-Hepatic Porto-Systemic Shunt Causing Adult-Onset Encephalopathy Treated with Endovascular Closure.

Massimiliano Allegritti, Benedetta Enrico, Emanuela Basile, Lara de Vito, Antonino Morabito, Roberto Cirocchi, Michela Giustozzi, Giovanni Passalacqua,

INTRODUCTION:Encephalopathy secondary to hyperammonemia due to Congenital Extra-hepatic Porto-systemic shunt (CEPS) in the absence of liver cirrhosis is an exceptionally unusual condition. We describe the case of a 54-year-old woman admitted to the Emergency Department complaining of recurrent episodes of confusion and worsening cognitive impairment. At admission, the patient displayed ... Read more >>

Dig. Dis. Sci. (Digestive diseases and sciences)
[2020, 65(4):946-951]

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Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: A distinct grey-white matter variation.

Shervin Pejhan, Victoria Mok Siu, Lee Cyn Ang, Marc R Del Bigio, Mojgan Rastegar,

INTRODUCTION AND OBJECTIVES:Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic-pattern immunolabelling, which has been interpreted as a reflection of activation-state variability. We aimed to study post-mortem MeCP2 and ... Read more >>

Neuropathol. Appl. Neurobiol. (Neuropathology and applied neurobiology)
[2020, :]

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A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.

Elizabeth G Ames, Kera E Luckritz, Ayesha Ahmad,

BACKGROUND:Outcomes for severe hyperammonemia treated with renal replacement therapy (RRT) reported in the literature vary widely. This has created differing recommendations regarding when RRT is beneficial for hyperammonemic patients. METHODS:To evaluate our institution's experience with RRT in pediatric patients with inborn errors of metabolism (IEMs) and potential prognostic indicators of ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2020, :]

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MeCP2 and Chromatin Compartmentalization.

Annika Schmidt, Hui Zhang, M Cristina Cardoso,

Methyl-CpG binding protein 2 (MeCP2) is a multifunctional epigenetic reader playing a role in transcriptional regulation and chromatin structure, which was linked to Rett syndrome in humans. Here, we focus on its isoforms and functional domains, interactions, modifications and mutations found in Rett patients. Finally, we address how these properties ... Read more >>

Cells (Cells)
[2020, 9(4):]

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The enhancement of activity rescues the establishment of Mecp2 null neuronal phenotypes

Nicoletta Landsberger, Francesco Bedogni, Linda Scaramuzza, Cobolli Gigli Clementina, Desiato Genni, Filippo Mirabella, Davide Pozzi, Martina Chiacchiaretta, Marco De Simone, Paola Conforti, Massimiliano Pagani, Fabio Benfenati, Fabrizia Cesca, Giuseppina De Rocco,

Mecp2 deficiency, the gene responsible for Rett syndrome (RTT), affects brain maturation by impairing neuronal activity, transcription and morphology. These three elements are physiologically linked in a feed-forward cycle where neuronal activity modulates transcription and morphology to further increase network maturity. We hypothesized that the reduced activity displayed by maturing ... Read more >>

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Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome.

Mirko Luoni, Serena Giannelli, Marzia Tina Indrigo, Antonio Niro, Luca Massimino, Angelo Iannielli, Laura Passeri, Fabio Russo, Giuseppe Morabito, Piera Calamita, Silvia Gregori, Benjamin Deverman, Vania Broccoli,

Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles since MECP2 is expressed throughout the brain and its duplication leads to severe neurological conditions as well. Herein, we use the AAV-PHP.eB to ... Read more >>

Elife (eLife)
[2020, 9:]

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Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Melis Demir Köse, Ruya Colak, Ezgi Yangin Ergon, Ferit Kulali, Meral Yildiz, Senem Alkan, Taner Atilgan, Fatma Aslan, Ruth Brown, Garry Brown, Erkin Serdaroğlu, Sebnem Çalkavur,

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate ... Read more >>

J. Pediatr. Endocrinol. Metab. (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, 33(4):569-574]

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Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome.

Michael Sean Carroll, Jan-Marino Ramirez, Debra E Weese-Mayer,

BACKGROUND:Rett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome. As basic research begins to suggest potential treatments, sensitive measures of the dynamic phenotype are ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, :]

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Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.

Aleena Arij Khan, Salman Kirmani,

Clin. Dysmorphol. (Clinical dysmorphology)
[2020, 29(2):111-113]

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Sleep Quality in Children and Adults with Rett Syndrome.

Y Leven, F Wiegand, B Wilken,

BACKGROUND: Over 80% of individuals suffering from Rett syndrome (RTT) are affected over their life period by sleeping disorders. Little is known about the impact of those on the quality of life and a clinical approach to the treatment of sleep disturbances is lacking. AIMS: Primary aim was to assess sleep quality ... Read more >>

Neuropediatrics (Neuropediatrics)
[2020, :]

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A184 NON-CIRRHOTIC HYPERAMMONEMIA SECONDARY TO EXTRAHEPATIC PORTOSYSTEMIC VENOUS SHUNT PRESENTING AS A CONGNITIVE DYSFUNCTION: A CASE REPORT AND LITERATURE REVIEW.

T Abdel Moaein, A Ilnyckyj, S Bhangoo,

AbstractBackgroundHyperammonemia secondary to liver disease is a very common cause of hepatic encephalopathy (HE) and it is easily recognized in patients with advanced liver disease. Non-cirrhotic causes of hyperammonemia are rare, particularly extrahepatic portosystemic venous shunts (EPS). The majority of these shunts are between a mesenteric vein and the inferior ... Read more >>

J Can Assoc Gastroenterol (Journal of the Canadian Association of Gastroenterology)
[2020, 3(Suppl 1):53-55]

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Phenotypic profiling of mGlu7 knockout mice reveals new implications for neurodevelopmental disorders.

Nicole M Fisher, Robert W Gould, Rocco G Gogliotti, Annalise J McDonald, Hana Badivuku, Susmita Chennareddy, Aditi B Buch, Annah M Moore, Matthew T Jenkins, W Hudson Robb, Craig W Lindsley, Carrie K Jones, P Jeffrey Conn, Colleen M Niswender,

Neurodevelopmental disorders are characterized by deficits in communication, cognition, attention, social behavior and/or motor control. Previous studies have pointed to the involvement of genes that regulate synaptic structure and function in the pathogenesis of these disorders. One such gene, GRM7, encodes the metabotropic glutamate receptor 7 (mGlu7 ), a G ... Read more >>

Genes Brain Behav. (Genes, brain, and behavior)
[2020, :]

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Integrated analysis of a compendium of RNA-Seq datasets for splicing factors

Peng Yu, Jin Li, Su-Ping Deng, Feiran Zhang, Petar Grozdanov, Eunice Chin, Sheree Martin, Laurent Vergnes, Saharul Islam, Deqiang Sun, Janine LaSalle, Sean McGee, Eyleen Goh, Clinton MacDonald, Peng Jin,

Abstract A vast amount of public RNA-sequencing datasets have been generated and used widely to study transcriptome mechanisms. These data offer precious opportunity for advancing biological research in transcriptome studies such as alternative splicing. We report the first large-scale integrated analysis of RNA-Seq data of splicing factors for systematically identifying ... Read more >>

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Exercise and physical activity in cirrhosis: opportunities or perils.

Annette Bellar, Nicole Welch, Srinivasan Dasarathy,

Reduced exercise capacity and impaired physical performance are observed in nearly all patients with liver cirrhosis. Physical activity and exercise are physiological anabolic stimuli that can reverse dysregulated protein homeostasis or proteostasis and potentially increase muscle mass and contractile function in healthy subjects. Cirrhosis is a state of anabolic resistance ... Read more >>

J. Appl. Physiol. (Journal of applied physiology (Bethesda, Md. : 1985))
[2020, :]

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Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura,

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:4709548]

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[Clinical practice guidelines for Rett syndrome].

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Rongwei Guan, Qiuyan Li, Songbin Fu,

Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting the females. It is closely associated with mutations of methylated CpG binding protein 2 ((MeCP2))] gene on the X chromosome. The incidence of RTT in females is 1/15 000 - 1/10 000. Its clinical features include mental retardation, loss of language ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(3):308-312]

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Hand Stereotypies in Rett Syndrome.

Matheus G Ferreira, Hélio A G Teive,

Researchers from the Rett Syndrome Natural History Study (RNHS) present longitudinal data across the United States of America aimed to characterize hand stereotypies (HS) in this large cohort of patients with Rett syndrome. ... Read more >>

Pediatr Neurol Briefs (Pediatric Neurology Briefs)
[2020, 34:2]

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The multiple facets of the SMC1A gene.

Antonio Musio,

Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and ... Read more >>

Gene (Gene)
[2020, 743:144612]

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Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome.

Deivid C Rodrigues, Marat Mufteev, Robert J Weatheritt, Ugljesa Djuric, Kevin C H Ha, P Joel Ross, Wei Wei, Alina Piekna, Maria A Sartori, Loryn Byres, Rebecca S F Mok, Kirill Zaslavsky, Peter Pasceri, Phedias Diamandis, Quaid Morris, Benjamin J Blencowe, James Ellis,

Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal engagement (RE) during human neurodevelopment, we use parallel translating ribosome affinity purification sequencing (TRAP-seq) and RNA sequencing (RNA-seq) on control and RTT human induced pluripotent stem ... Read more >>

Cell Rep (Cell reports)
[2020, 30(12):4179-4196.e11]

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Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.

Nicholas Placone, Roy L Kao, Pamela Kempert, Maritza E Ruiz, Jacqueline N Casillas, Maki Okada, James B Gibson, Carlos Maggi, Kevin O'Brien, Roy Nattiv, Natalie M Gallant, Stephanie H Abrams,

Idiopathic hyperammonemia is a rare, poorly understood, and often lethal condition that has been described in immunocompromised patients. This report describes an immunocompromised patient with acute myelogenous leukemia who developed persistent hyperammonemia up to 705 µmol/L (normal, 0 to 47 µmol/L) refractory to multiple different therapies. However, after beginning azithromycin and then ... Read more >>

J. Pediatr. Hematol. Oncol. (Journal of pediatric hematology/oncology)
[2020, 42(2):e114-e116]

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A Homozygous Splicing Mutation in PDE2A in a Family with Atypical Rett Syndrome.

Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Joelle Abou-Ghoch, Ali Fawaz, Cybel Mehawej, Eliane Chouery,

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, :]

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Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female.

Justus Marquetand, Peter Freisinger, Tobias Lindig, Sebastian Euler, Michael Gasser, Dietrich Overkamp,

BACKGROUND:Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which was unmasked after a protein overload due to nutritional supplements. Our case illustrates how environmental ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):118]

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Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome.

Pia Bernardo, Stuart Cobb, Antonietta Coppola, Leo Tomasevic, Vincenzo Di Lazzaro, Carmela Bravaccio, Fiore Manganelli, Raffaele Dubbioso,

OBJECTIVE:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alteration of excitation/inhibition (E/I) balance and aberrant synaptic plasticity at the cortical level. We aimed to understand neurobiological mechanisms ... Read more >>

Ann. Neurol. (Annals of neurology)
[2020, :]

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Quantitative proteomic analysis shows alterations in patient Rett syndrome iPSC cultures at early neuronal progenitor stages

Vivi Heine, Suzy Varderidou-Minasian, Lisa Hinz, Dominique Hagemans, Danielle Posthuma, Maarten Altelaar,

<title>Abstract</title> <p> <bold>Background</bold>Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social and motor skills. RTT is often caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). The mechanism by which impaired MeCP2 induces the pathological abnormalities in ... Read more >>

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