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Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.
Sci Rep
December 2024
Department of Nutrition, Department of Food Science and Technology, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.
View Article and Find Full Text PDFBi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Am J Hum Genet
January 2025
Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFActionable non-small cell lung cancer mutation identification by comprehensive genomic profiling for clinical trial enrollment: the European Program for the ROutine testing of Patients with Advanced lung cancer (EPROPA).
J Thorac Oncol
December 2024
Department of Oncology, University of Turin, S. Luigi Gonzaga Hospital, Orbassano, (TO), Italy. Electronic address:
Background: To reduce the gap about the relevant heterogeneity of molecular testing and cancer care across Europe, Women Against Lung Cancer in Europe (WALCE) promoted the European Program for ROutine testing of Patients with Advanced lung cancer (EPROPA) and provided a free-of-charge molecular profiling platform for non-small cell lung cancer sample characterization with the aim of increasing the detection of targetable drivers and improving patients' access to clinical trials.
Methods: From January 2021 to December 2023, 20 centres located at 5 different European countries (Greece, Slovenia, Romania, Albania and Italy) joined EPROPA, with 555 advanced NSCLC patients registered into the program. Anonymized patients' clinical-pathological data were shared through the EPROPA web platform and tissue samples were collected to the Molecular Pathology Unit of the Reference Center (University of Turin) for molecular analyses.
Investigator-initiated, multi-center, single-arm, open-label study of the effectiveness of canakinumab in Japanese patients with Schnitzler syndrome.
Allergol Int
December 2024
Department of Dermatology, Hyogo Medical University Graduate School of Medicine, Nishinomiya, Japan.
Article Synopsis
- Schnitzler syndrome is an adult-onset autoinflammatory condition presenting with a rash, fever, and fatigue, but lacks an approved treatment, prompting this study on canakinumab.
- In this phase II trial, five patients received a single dose of canakinumab, with the goal of achieving a complete clinical response (CR) and tracking improvements in quality of life and inflammatory markers.
- The results indicated that 60% of patients achieved CR by Day 7, and all patients demonstrated improvements in inflammation and quality of life, suggesting canakinumab may be beneficial for those with Schnitzler syndrome.
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