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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Mitochondrion
November 2024
Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address:
The diagnosis of mitochondrial disorders is complex. Rapid whole genome sequencing is a first line test for critically ill neonates and infants allowing rapid diagnosis and treatment. Standard genomic technology and bioinformatic pipelines still have an incomplete diagnostic yield requiring complementary approaches.
View Article and Find Full Text PDFHighly sensitive rapid determination of orotic acid in urine samples using a field-amplified sample stacking approach in capillary electrophoresis coupled with contactless conductivity detection.
J Pharm Biomed Anal
January 2024
Istanbul Technical University, Department of Chemistry, Maslak, 34469 Istanbul, Türkiye. Electronic address:
Orotic aciduria is a severe, hereditary, life-threatening condition, particularly in newborns. An increased orotic acid (OA) content in urine may be a strong indicator of this condition. In this study, we developed a rapid, simple, highly sensitive diagnostic method for use in monitoring the OA levels in urine samples, which were successfully determined using capillary electrophoresis combined with capacitively coupled contactless conductivity detection (CE-CD).
View Article and Find Full Text PDFAnalysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Clin Chem Lab Med
February 2024
Department of Biochemistry and Molecular Genetics, Section of Inborn Errors of Metabolism-IBC, Hospital Clinic, Barcelona, Spain.
Article Synopsis
- The study focuses on improving newborn screening (NBS) by analyzing dried blood spot (DBS) samples for metabolites through tandem mass spectrometry to reduce false positive (FP) results.
- Researchers measured 46 metabolites in DBS from various groups, including healthy newborns and those with genetic disorders, validating that 31 metabolites exhibited strong analytical performance.
- The method shows 100% sensitivity and 74-99% specificity for detecting diseases, enhancing NBS efficiency by decreasing FP rates and diagnosis time while accurately identifying specific organic acidurias and metabolic disorders.
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
Hum Gene Ther
September 2023
Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia.
Article Synopsis
- Researchers are exploring the therapeutic potential of epigenetic editing for treating ornithine transcarbamylase (OTC) deficiency, particularly in female patients with this X-linked condition.
- The study utilized diseased liver cells from affected infants to create chimeric mouse-human livers, allowing for the examination of disease mechanisms and potential epigenetic treatments.
- Findings showed that the models accurately reflected the patients' disease characteristics and demonstrated a treatable metabolic phenotype, suggesting a promising avenue for therapeutic development.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
March 2023
National Newborn Screening Program, Public Health Services, Ministry of Health, Ramat-Gan, Israel.
Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill.
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