The Stability of Al11Sm3 (Al4Sm) Phases in the Al-Sm Binary System

The relative stability of Al11Sm3 (Al4Sm) intermetallic phases was experimentally investigated through a series of heat treatments followed by microstructural, microchemical, and X-ray diffraction (XRD) analyses. The principal findings are that the high-temperature tetragonal phase is stable from 1655 to 1333 K and that the low-temperature orthorhombic phases, α and γ, have no range of full stability but are metastable with respect to the crystalline Al and Sm reference states down to 0 K. Thermodynamic modeling is used to describe the relative energetics of stable and metastable phases along with the associated two-phase mixtures. Issues regarding transition energetics and kinetics are discussed

Modeling of Thermodynamic Properties and Phase Equilibria for the Al-Sm Binary System

The thermodynamic properties and associated phase equilibria for the Al-Sm binary system are examined, and experimental results regarding the stability of the Al3Sm, Al11Sm3, and Al4Sm intermetallics are incorporated. In the analysis presented, the liquid phase is described using a three-species association model, the intermediate phases are treated as stoichiometric compounds, and the terminal phases are treated as solid solutions with a single sublattice model. In addition to the stable phases, thermodynamic descriptions of the metastable Al11Sm3-α and Al4Sm-γ phases are employed, and both stable and metastable phase equilibria are presented over the full composition range, providing a general model, which is consistent with available experimental data. Metastable liquidus curves are examined with respect to the observed crystallization behavior of amorphous Al-Sm alloys

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects. We also associated recessive PLD1 variants with isolated neonatal cardiomyopathy. Furthermore, we established that p.1668F is a founder variant among Ashkenazi Jews (allele frequency of -.2%) and describe the phenotypic spectrum of PLD1-associated congenital heart defects. PLD1 missense variants were overrepresented in regions of the protein critical for catalytic activity, and, correspondingly, we observed a strong reduction in enzymatic activity for most of the mutant proteins in an enzymatic assay. Finally, we demonstrate that PLD1 inhibition decreased endothelial-mesenchymal transition, an established pivotal early step in valvulogenesis. In conclusion, our study provides a more detailed understanding of disease mechanisms and phenotypic expression associated with PLD1 loss of function.Genetics of disease, diagnosis and treatmen