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Hepatic veno-occlusive disease complicated with extreme hyperammonaemia (920 µmol/L) treated with defibrotide, lactulose, rifampin and haemodialysis.
BMJ Case Rep
March 2024
Pulmonary and Critical Care Medicine, Hackensack Meridian Hackensack University Medical Center, Hackensack, New Jersey, USA.
Hepatic veno-occlusive disease (VOD)/sinusoidal obstructive syndrome (SOS) is a severe complication that can occur following haematopoietic stem cell transplant (HSCT) with high-intensity conditioning chemotherapy regimens. Severe VOD/SOS, often characterised by multiorgan failure, is associated with a high mortality rate. This case report details the complex clinical course of a male patient in his mid-20s, recently diagnosed with B cell acute lymphoblastic leukaemia, who underwent allogeneic HSCT.
View Article and Find Full Text PDFAnesthetic Management of the Surgical Correction of Idiopathic Scoliosis in a Teenager With Ornithine Transcarbamalyse Deficiency.
Cureus
September 2023
Anesthesiology, Centro Hospitalar Universitário São João, Porto, PRT.
Ornithine transcarbamylase (OTC) deficiency is the most common genetic disorder of the urea cycle. These disorders are characterized by an inability to metabolize ammonia into urea, leading to hyperammonemia with variable physiological consequences and presenting important anesthetic challenges, especially the perioperative prevention of hyperammonemia and management of its consequences, should it occur. Idiopathic scoliosis (IS) is the most common spinal deformity requiring surgical treatment.
View Article and Find Full Text PDFPrimary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.
Turk Kardiyol Dern Ars
October 2022
Department of Pediatric Metabolic Disorders', Ege University Faculty of Medicine, İzmir, Turkey.
Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic.
View Article and Find Full Text PDFIdiopathic hyperammonemic encephalopathy secondary to gemcitabine-cisplatin treatment.
Cancer Chemother Pharmacol
November 2022
Department of Clinical Pharmacy, University Medical Center Utrecht, Utrecht, the Netherlands.
Idiopathic hyperammonemic encephalopathy is a rare complication of chemotherapy, which has previously mainly been associated with L-asparaginase, cytarabine and 5-FU. We present a case following treatment with gemcitabine-cisplatin in a patient with cholangiocarcinoma. The etiology of chemotherapy-induced idiopathic hyperammonemic encephalopathy remains unclear and existing theories differ per chemotherapeutic agent.
View Article and Find Full Text PDFUnexplained Fatal Hyperammonemia in a Patient With New Diagnosis of Acute Monoblastic Leukemia.
Cureus
December 2021
Pulmonary and Critical Care, Henry Ford Health System, Detroit, USA.
Idiopathic hyperammonemia is a serious condition that can arise after induction of chemotherapy and is characterized by plasma ammonia levels greater than two times the normal upper limit but within the context of normal liver function. While this dangerous complication usually appears several weeks after the start of chemotherapy, we report a fatal case of idiopathic hyperammonemia that was detected only nine days after induction chemotherapy in a 22-year-old man with no liver pathology or other risks for hyperammonemia. The patient's initial emergent presentation was altered mental status.
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