A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood.

Direct analysis of surface chemicals using vibrating sharp-edge spray ionization mass spectrometry.

Rationale: Direct analysis of chemicals on a surface using mass spectrometry (MS) is of great importance in forensics, food and drug safety, environmental monitoring, and defense. Solvent extraction-based surface analysis offers a convenient way of controlling the desorption conditions and applying internal standards. To date, it mainly relies on a separate electrospray process to nebulize and ionize the solvents.

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.

Background: A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA for congenital malformations, and for the neurodevelopmental effects in particular, has taken many years but these are now acknowledged following the publication of the outcomes of several prospective studies and registries. As with other teratogens, exposure to VPA can have variable effects, ranging from a characteristic pattern of major malformations and significant intellectual disability to the other end of the continuum, characterised by facial dysmorphism which is often difficult to discern and a more moderate effect on neurodevelopment and general health.

The Effect of a Two-Stage Heat-Treatment on the Microstructural and Mechanical Properties of a Maraging Steel.

Maraging steels gain many of their beneficial properties from heat treatments which induce the precipitation of intermetallic compounds. We consider here a two-stage heat-treatment, first involving austenitisation, followed by quenching to produce martensite and then an ageing treatment at a lower temperature to precipitation harden the martensite of a maraging steel. It is shown that with a suitable choice of the initial austenitisation temperature, the steel can be heat treated to produce enhanced toughness, strength and creep resistance.