Results 41 to 50 of about 9,393 (183)

Multiple myeloma with hyperammonemia.

open access: yesNihon Naika Gakkai Zasshi, 2000
症例は71歳男性. 1998年7月頃より食欲低下,全身倦怠感が出現し,当院受診.軽度の脱水を認め入院となった.入院後,突然昏睡状態となり,血中アンモニア294ug/dlと高アンモニア血症を認めた.入院時貧血と軽度の腰痛があったことより,骨髄腫を疑い骨髄穿刺を施行し,異型性のある形質細胞の増加とIgG-λ型M蛋白を認め骨髄腫と診断した.原因不明の高アンモニア血症の鑑別として貴重な症例と考えられた.
Horie, Atsuya   +4 more
openaire   +3 more sources

Hyperammonemia in Hepatic Encephalopathy [PDF]

open access: yesJournal of Clinical and Experimental Hepatology, 2018
The precise mechanism underlying the neurotoxicity of Hepatic Encephalopathy (HE) is remains unclear. The dominant view has been that gut-derived nitrogenous toxins are not extracted by the diseased liver and thereby enter the brain. Among the various toxins proposed, the case for ammonia is most compelling.
A R, Jayakumar, Michael D, Norenberg
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris   +4 more
wiley   +1 more source

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state.
Thomas Silfverberg   +4 more
doaj   +1 more source

Topiramate-Related Hyperammonemia [PDF]

open access: yesJournal of Pharmacy Technology, 2015
Objective: To report a case of hyperammonemia associated with the interaction between topiramate and valproic acid. Case Summary: We present a patient case with topiramate-related hyperammonemia. The patient was on topiramate prior to admission and presented with an elevated ammonia level following 2 doses of valproic acid.
Kelly, Moore   +2 more
openaire   +2 more sources

Diverting the Diagnosis: A Case Report of Hemodialysis Masking the Etiology of Hyperammonemia

open access: yesCanadian Journal of Kidney Health and Disease
Rationale: Hyperammonemia in patients receiving hemodialysis is uncommon but poses a significant clinical challenge due to the effective clearance of ammonia by dialysis, which can obscure the underlying cause.
Adina Landsberg   +3 more
doaj   +1 more source

Regulatory Effects of Ammonium Chloride in an In Vitro Model of Hepatic Encephalopathy: Mechanisms Involving ACTA2‐Mediated Cytoskeletal Remodeling

open access: yesiLABMED, EarlyView.
Hyperammonemic stress suppresses ACTA2 expression and induces F‐actin cytoskeletal remodeling in astrocytes. The resulting inhibition of FAK/c‐Src signaling contributes to apoptosis, G2/M arrest, AQP4‐mediated swelling and junction‐associated proteins dysregulation, revealing a central role for ACTA2‐dependent cytoskeletal dysfunction in hepatic ...
Yue Tang   +6 more
wiley   +1 more source

Prognostic Role of Ammonia in Critical Care Patients Without Known Hepatic Disease

open access: yesFrontiers in Medicine, 2020
Background and Aims: Hyperammonemia usually develops because of hepatic disease, but it may occur in patients with non-hepatic hyperammonemia (NHH). But, studies on the prognosis and possible risk factors of this disorder are lacking.
Lina Zhao   +7 more
doaj   +1 more source

Renal replacement therapy in neonates with an inborn error of metabolism [PDF]

open access: yesKorean Journal of Pediatrics, 2019
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
doaj   +1 more source

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