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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Ultra pure high molecular weight DNA from soil for Nanopore shotgun metagenomics and metabarcoding sequencing.
MethodsX
June 2025
IRD, UMR Eco&Sols, INRAE, CIRAD, Institut Agro, Université Montpellier, Montpellier, France.
Soil microbes are among the most abundant and diverse organisms on Earth but remain poorly characterized. New technologies have made possible to sequence the DNA of uncultivated microorganisms in soil and other complex ecosystems. Genome assembly is crucial for understanding their functional potential.
View Article and Find Full Text PDFMaternal-fetal cytokine profiles in acute SARS-CoV-2 "breakthrough" infection after COVID-19 vaccination.
Front Immunol
January 2025
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
Objective: Vaccination is protective against severe COVID-19 disease, yet whether vaccination reduces COVID-19-associated inflammation in pregnancy has not been established. The objective of this study is to characterize maternal and cord cytokine profiles of acute SARS-CoV-2 "breakthrough" infection (BTI) after vaccination, compared with unvaccinated infection and uninfected controls.
Study Design: 66 pregnant individuals enrolled in the MGH COVID-19 biorepository (March 2020-April 2022) were included.
Ofatumumab successfully treats myelin oligodendrocyte glycoprotein antibody-associated disease accompanied by Epstein-Barr viral infection: a case series.
Front Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) caused by pathogenic immunoglobulin G antibodies to myelin oligodendrocyte glycoprotein is a rare demyelinating disease of the central nerve system (CNS). The clinical phenotypes of MOGAD include acute disseminated encephalomyelitis, optic neuritis, and transverse myelitis. At present, the mechanism underlying the disease is unknown.
View Article and Find Full Text PDFCase report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
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