Results 31 to 40 of about 15,555 (178)

Perfluorooctanoic Acid Exposure Causes Macrophage Ammonia Retention and Induces Spontaneous Miscarriages

open access: yesAdvanced Science, EarlyView.
PFOA exposure induces pregnancy loss by promoting glutaminolysis, which further causes ammonia accumulation in macrophages. Cellular ammonia retention results in damage to mitochondria and lysosomes, which leads to cell death eventually. Impaired lysosomes also decrease the secretion of the Cathepsin B (CTSB), and attenuate macrophage infiltration and ...
Yongbo Zhao   +6 more
wiley   +1 more source

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

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

open access: yes, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny   +4 more
core   +2 more sources

Orotic Aciduria [PDF]

open access: yes, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon   +10 more
wiley   +1 more source

Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]

open access: yes, 2019
Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen   +7 more
core   +2 more sources

Mechanism of Ammonia‐Induced Brain Damage in Chinese Striped‐Necked Turtle (Mauremys sinensis)

open access: yesIntegrative Zoology, EarlyView.
High levels of ammonia disrupt the integrity of the brain barrier in Mauremys sinensis, leading to tissue edema. This, in turn, triggers a series of cascade reactions, including disturbances in neurotransmitter levels, particularly glutamate, which might further exacerbate the neurotoxic effects.
Yunjuan Xiao   +6 more
wiley   +1 more source

Guidance for Liver Rehabilitation in Chronic Liver Disease

open access: yesHepatology Research, EarlyView.
ABSTRACT In April 2023, the Japan Society of Hepatology published its official guidelines on liver rehabilitation for chronic liver disease. In this article, we summarize the current evidence on the role of liver rehabilitation in slowing the progression of chronic liver disease, particularly metabolic dysfunction‐associated steatotic liver disease ...
Shuji Terai   +26 more
wiley   +1 more source

Portacaval anastomosis-induced hyperammonemia does not lead to oxidative stress [PDF]

open access: yes, 2010
Ammonia is neurotoxic and believed to play a major role in the pathogenesis of hepatic encephalopathy (HE). It has been demonstrated, in vitro and in vivo, that acute and high ammonia treatment induces oxidative stress.
Bosoi, Cristina R.   +4 more
core   +1 more source

Endoscopic Ultrasonography‐guided Variceal Therapy as Salvage Treatment for Rebleeding From Duodenal Varices Following Balloon‐occluded Retrograde Transvenous Obliteration

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Duodenal varices, though rare, are potentially life‐threatening complications of portal hypertension. Management is challenging when balloon‐occluded retrograde transvenous obliteration (BRTO) fails to achieve complete obliteration. Endoscopic ultrasonography‐guided variceal therapy (EUS‐VT) is effective for gastric varices, but reports of ...
Sakue Masuda   +6 more
wiley   +1 more source

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