The Role of Radioactivities in Astrophysics

I present both a history of radioactivity in astrophysics and an introduction to the major applications of radioactive abundances to astronomy

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons—Leu844, Cys845, Ala846, Leu847, and Gly848—located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect ∼0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals

Geochemical variation at the Hawaiian hot spot caused by upper mantle dynamics and melting of a heterogeneous plume

Geochemical variations within the young Hawaiian Islands occur in two particularly prominent forms: differences between volcanic stages and differences between the “Loa” and “Kea” subchains. These observations have been interpreted to reveal spatial patterns of compositional variation in the mantle, such as concentric zoning about the hot spot or elongate streaks along the hot spot track. Our numerical models of a hot plume of upwelling mantle that is interacting with, and melting beneath, a moving lithospheric plate suggest some of the above interpretations should be reevaluated. The mantle plume is assumed to be uniformly isotopically heterogeneous, thus without any compositional zoning. Nonetheless, our models predict geographic zoning in lava isotope composition, an outcome that is caused by differences in melting depths of distinct source components and plume-lithosphere interaction. Isotope compositions of model volcanoes that grow as they pass over the melting zone can explain some of the gross aspects of isotope variation at Hawaii. The results illustrate that chemical zoning at the surface is not necessarily a map of zoning in the mantle, and this affects further inferences about the chemical structure of the mantle

Modeling turnover intentions, burnout, and job satisfaction of nurse anesthetists:The sensitivity of results to choice of statistical method

Turnover by nurse anesthetists is expensive because they are highly skilled and difficult to replace. This study examines the turnover intentions of 882 Dutch nurse anesthetists. Turnover intention is modeled as a function of job satisfaction, burnout, personality, work context characteristics, and work climate. Previous research used the dataset to estimate the model using structural equation modeling (SEM). This study examines the sensitivity of results by using a two-level multilevel model with fixed or random intercepts. This study finds that the major substantive conclusions of the previous study are not sensitive to statistical methodology, which increases ones confidence in the conclusions