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Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
World J Clin Pediatr
December 2024
Department of Neonatal, The Second Affiliated Hospital of Xiamen Medical College, Xiamen 361021, Fujian Province, China.
Article Synopsis
- Genetic factors are important in neonatal hyperbilirubinemia (NH) linked to genetic disorders, with the study focusing on identifying mutation characteristics.
- A retrospective study involved 105 newborns with NH due to genetic conditions, using a 24-gene panel for sequencing and statistical analysis.
- Results highlighted 17 frequently mutated genes, with specific mutations identified in neonatal Gilbert syndrome and Wilson's disease, indicating that certain mutations correlate with higher risks of NH in newborns.
A systematic review of dexmedetomidine pharmacology in pediatric patients.
Clin Transl Sci
December 2024
Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Dexmedetomidine is a centrally acting alpha-2 agonist used for initiation and maintenance of procedural sedation and mechanical ventilation in adult and pediatric settings. It is commonly used in both pediatric and neonatal intensive care units. Dexmedetomidine requires extensive titration, and patients can be over or under-sedated during titration, leading to adverse events such as hypotension and bradycardia, or inadequate sedation, which can result in self-extubation.
View Article and Find Full Text PDFPharmacogenetic-guided dosing for fluoropyrimidine (DPYD) and irinotecan (UGT1A1*28) chemotherapies for patients with cancer (PACIFIC-PGx): A multicenter clinical trial.
Clin Transl Sci
December 2024
Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia.
PACIFIC-PGx evaluated the feasibility of implementing pharmacogenetics (PGx) screening in Australia and the impact of DPYD/UGT1A1 genotype-guided dosing on severe fluoropyrimidine (FP) and irinotecan-related toxicities and hospitalizations, compared to historical controls. This prospective single arm trial enrolled patients starting FP/irinotecan for any cancer between 7 January 2021 and 25 February 2022 from four Australian hospitals (one metropolitan, three regional). During the accrual period, 462/487 (95%) consecutive patients screened for eligibility for DPYD and 50/109 (46%) for UGT1A1 were enrolled and genotyped (feasibility analysis), with 276/462 (60%) for DPYD and 30/50 (60%) for UGT1A1 received FP/irinotecan (safety analysis).
View Article and Find Full Text PDFEffect of and polymorphisms on the valproic acid serum concentration and drug-induced liver injury.
Pharmacogenomics
November 2024
Department of Clinical Pharmacy, General Hospital of Central Theater Command, Wuhan, Hubei Province, 430070, China.
Valproic acid (VPA) is a classic broad-spectrum antiepileptic drug, with significant pharmacokinetic variability. Genetic polymorphisms contribute to this variability, influencing both VPA trough serum concentration (VPA concentration) and VPA-induced liver injury. Our study aims to investigate the association between polymorphisms of uridine diphosphate glucuronyl transferase () , and VPA concentration and screen for potential genetic loci affecting VPA-induced liver injury.
View Article and Find Full Text PDFUGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
Sci Rep
October 2024
Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Clinical Laboratory, Medical Research Institute of Maternal and Child of Longgang District, Shantou University, Shenzhen, 518172, Guangdong, China.
We explore the allele and genotype distribution of UGT1A1 and BLVRA variants in individuals affected by neonatal hyperbilirubinemia in southern China. Blood specimens were collected from 240 neonates: 126 cases of hyperbilirubinemia and 114 healthy controls. Serum levels of total protein, albumin, bilirubin (total and direct), urea nitrogen, creatinine, and other biochemical parameters were quantified using a biochemical analyzer.
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