Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Background: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the gene in female individuals receiving reproductive carrier screening.

Methods: This retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022.

The Oklo phenomenon, the discovery, first questions and first answers.

The discovery in Nature of 16 reactions zones where sustained fission chain reaction occurred 1.95 b.y ago raised numerous questions in many scientific fields.

Parallels between natural Oklo reaction zones and industrial reactors dynamics.

The first man-made nuclear reactor was developed by Fermi and collaborators at the University of Chicago and reached criticality in December 1942. This was the confirmation that men were able to use sustained fission reactions in order to produce energy. Following this success, nuclear reactors studies gave rise to several families of reactors corresponding to different orientations and technical choices.

Evidence of fast neutron operating in Oklo.

Since the discovery of the first reactor zone (RZ) at the Oklo uranium deposit in 1972, many isotopic studies have been performed to understand the mechanism of the operation as fission reactors and to trace the migration behaviors of fissiogenic isotopes produced in the Oklo RZs. As the representative parameters to characterize the operating conditions of RZs, neutron fluence generated in RZ, duration of RZ operation, restitution factor of 235U from α decay of 239Pu produced by neutron capture of 238U and the proportion of fission events due to 235U, 238U and 239Pu are compiled and compared with individual RZs. In particular, one of the Oklo RZs, RZ 13, shows several specific features in the view point of isotopic and nuclear characteristics.