Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.
View Article and Find Full Text PDFUnlabelled: The trace-element and isotope geochemistry of rutile are robust tools to determine metamorphic temperatures, age, and host-/source lithologies. The use of rutile as single grain indicator for pressure, temperature, time and composition (P-T-t-X) of the host rock, which is vital in the use of detrital rutile to trace plate-tectonic regimes throughout Earth's history, requires the identification of a pressure dependent trace element in rutile. We investigate the pressure dependence of hydrogen in rutile using polarized in-situ Fourier Transform Infrared (FTIR) spectroscopy.
View Article and Find Full Text PDFPurpose: The PNOC001 phase II single-arm trial sought to estimate progression-free survival (PFS) associated with everolimus therapy for progressive/recurrent pediatric low-grade glioma (pLGG) on the basis of phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway activation as measured by phosphorylated-ribosomal protein S6 and to identify prognostic and predictive biomarkers.
Patients And Methods: Patients, age 3-21 years, with progressive/recurrent pLGG received everolimus orally, 5 mg/m once daily. Frequency of driver gene alterations was compared among independent pLGG cohorts of newly diagnosed and progressive/recurrent patients.
The importance of genomic surveillance on emerging diseases continues to be highlighted with the ongoing SARS-CoV-2 pandemic. Here, we present an analysis of a new bat-borne mumps virus (MuV) in a captive colony of lesser dawn bats (). This report describes an investigation of MuV-specific data originally collected as part of a longitudinal virome study of apparently healthy, captive lesser dawn bats in Southeast Asia (BioProject ID PRJNA561193) which was the first report of a MuV-like virus, named dawn bat paramyxovirus (DbPV), in bats outside of Africa.
View Article and Find Full Text PDFBackground: To achieve replicative immortality, most cancers develop a telomere maintenance mechanism, such as reactivation of telomerase or alternative lengthening of telomeres (ALT). There are limited data on the prevalence and clinical significance of ALT in pediatric brain tumors, and ALT-directed therapy is not available.
Methods: We performed C-circle analysis (CCA) on 579 pediatric brain tumors that had corresponding tumor/normal whole genome sequencing through the Open Pediatric Brain Tumor Atlas (OpenPBTA).
The global pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has highlighted the disparity between developed and developing countries for infectious disease surveillance and the sequencing of pathogen genomes. The majority of SARS-CoV-2 sequences published are from Europe, North America, and Asia. Between April 2020 and January 2022, 795 SARS-CoV-2-positive nares swabs from individuals in the U.
View Article and Find Full Text PDFThe emergence of SARS-CoV-2 variants complicates efforts to control the COVID-19 pandemic. Increasing genomic surveillance of SARS-CoV-2 is imperative for early detection of emerging variants, to trace the movement of variants, and to monitor effectiveness of countermeasures. Additionally, determining the amount of viable virus present in clinical samples is helpful to better understand the impact these variants have on viral shedding.
View Article and Find Full Text PDFBackground: Functional genome annotation is the process of labelling functional genomic regions with descriptive information. Manual curation can produce higher quality genome annotations than fully automated methods. Manual annotation efforts are time-consuming and complex; however, software can help reduce these drawbacks.
View Article and Find Full Text PDFThe virosphere is largely unexplored and the majority of viruses are yet to be represented in public sequence databases. Bats are rich reservoirs of viruses, including several zoonoses. In this study, high throughput sequencing (HTS) of viral RNA extracted from swabs of four body sites per bat per timepoint is used to characterize the virome through a longitudinal study of a captive colony of fruit nectar bats, species in Singapore.
View Article and Find Full Text PDFMulti-drug resistance is increasing at alarming rates. The efficacy of phage therapy, treating bacterial infections with bacteriophages alone or in combination with traditional antibiotics, has been demonstrated in emergency cases in the United States and in other countries, however remains to be approved for wide-spread use in the US. One limiting factor is a lack of guidelines for assessing the genomic safety of phage candidates.
View Article and Find Full Text PDFInt J Clin Monit Comput
December 1989
The prototype of a microprocessor controlled oxygen uptake monitor oxyconsumeter developed by Draegerwerk AG, Luebeck, FRG, has been tested. The measuring accuracy of this device was assessed with laboratory bench experiments utilizing both the nitrogen dilution technique and the hydrogen combustion technique to simulate oxygen uptake (VO2). The correlation coefficient between the simulated and the measured VO2 values was 0.
View Article and Find Full Text PDFEight different breathing gas humidifiers were tested by humidity measurements using two independent methods under simulated clinical conditions. The comparison considering the influence of tidal volume and inspiratory/expiratory ratios revealed great differences between the individual devices depending on the kind of humidification and functional principles. Only four of the humidifiers tested: Ultrasonic Nebulizer NB 108, Hydrotrop 200, Bennett Cascade and Nicholas Humidifier, gave a constant performance of more than 30.
View Article and Find Full Text PDFJ Invest Dermatol
February 1979
Until now the only successful growth of postembryonic skin in explant cultures has been with human skin. We describe the successful cultivation of postembryonic mouse skin explant culture in this report. We believe that any adult skin can be grown in explant culture.
View Article and Find Full Text PDFDtsch Gesundheitsw
February 1964