Publications by authors named "P E Petrides"
Article Synopsis
- Momelotinib, a newly approved JAK1/2 inhibitor, shows promise in treating myelofibrosis (MF) patients, particularly those with anemia, improving hemoglobin and platelet levels over a median treatment duration of 12 weeks.
- In a study of 60 MF patients, 39% of transfusion-dependent individuals experienced reduced transfusion needs, with 21% achieving transfusion independence in about 4 weeks.
- While momelotinib is effective, it also presented safety concerns, with 17% of patients experiencing creatinine increases, and some patients discontinued treatment due to side effects or worsening symptoms.
Article Synopsis
- Hereditary erythrocytosis is a rare condition with excessive red blood cell production, and a study involved 2,160 patients across Europe focusing on the EGLN1 gene.
- Researchers identified 39 mutations in the EGLN1 gene, including one deletion, which encodes the PHD2 enzyme that regulates the hypoxia-inducible factor.
- The study assessed the effects of these mutations through various methods, identifying 16 as pathogenic, and highlighted the importance of collaborative research in addressing rare genetic disorders.
Introduction: Acute intermittent porphyria (AIP) is a very rare (orphan) metabolic disorder of porphyrin biosynthesis which is characterized by elevated plasma and urine levels of 5-aminolevulinic acid (5-ALA) and porphobilinogen (PBG). Patients with this disorder which is caused by a germline mutation of the hydroxymethylbilan-synthase (HMBS)-gene have a high risk of primary liver cancer which may be determined by disease activity. The exact mechanism of carcinogenesis of this rare tumor is unknown, however.
View Article and Find Full Text PDFHyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Expert Rev Gastroenterol Hepatol
September 2022
Introduction: Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are complexly intertwined. Plasma homocysteine elevation, (HHcy), has been reported in patients with acute hepatic porphyria (AHP), a family of rare genetic disorders caused by defects in hepatic heme biosynthesis.
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