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Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.
Cureus
December 2024
Clinical Genetics, Aster Malabar Institute of Medical Sciences, Kozhikode, IND.
Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).
View Article and Find Full Text PDFA Unique Case Linking Rituximab to a Ureaplasma Infection and Life-Threatening Hyperammonemia.
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Pulmonary & Critical Care, Indiana University Health Methodist Hospital, Indianapolis, USA.
Rituximab is an anti-CD20 monoclonal antibody medication used in treating various cancers like non-Hodgkin lymphomas as well as immunologic conditions like granulomatosis with polyangiitis. It disrupts and decreases the number of B-cells, which causes an immunosuppressive state. This can promote the growth of numerous rare and opportunistic pathogens, one of which is .
View Article and Find Full Text PDFRole of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
Orphanet J Rare Dis
December 2024
Pediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate metabolic pathway. PA due to propionyl coenzyme A carboxylase deficiency results in accumulation of propionic acid, while in MMA, deficiency in methylmalonyl coenzyme A mutase leads to accumulation of methylmalonic acid. Hyperammonemia is related to a secondary deficiency of N-acetylglutamate (NAG), the activator of carbamoyl phosphate synthetase 1, which is an irreversible rate-limiting enzyme in the urea cycle.
View Article and Find Full Text PDFCongenital intrahepatic portosystemic shunt in 27 children: an experience and treatment strategy of a single centre in China.
Front Pediatr
November 2024
Department of General Surgery, Capital Institute of Pediatrics, Beijing, China.
Objective: To evaluate treatment strategies for congenital intrahepatic portosystemic shunt (CIPSS) based on the experience of treating 27 children.
Methods: Between August 2017 and January 2024, our team treated 27 children with CIPSS. Twelve patients underwent surgical ligation of the portosystemic shunt, while 15 patients diagnosed prenatally received conservative treatment without surgery.
Cilostazol counteracts mitochondrial dysfunction in hepatic encephalopathy rat model: Insights into the role of cAMP/AMPK/SIRT1/ PINK-1/parkin hub and p-CREB /BDNF/ TrkB neuroprotective trajectory.
Eur J Pharmacol
January 2025
Department of Pharmacology and Toxicology, Faculty of Pharmacy, Modern University for Technology and Information, Cairo, Egypt. Electronic address:
A devasting stage of chronic hepatic dysfunction is strictly correlated with neurological impairment, signifying hepatic encephalopathy (HE). HE is a multifactorial condition; therefore, hyperammonemia, oxidative stress, neuroinflammation, and mitochondrial dysfunction interplay in HE's progressive development. Cilostazol (Cilo) has shown promising neuroprotective and hepatoprotective effectiveness in different neuronal and hepatic disorders; however, its efficiency against HE hasn't yet been explored.
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