The climatonomy of a needle ice event: An experiment in simulation climatology

Soil surface temperature, net radiation and surface heave are used to evaluate a computer simulation of a needle ice event at Vancouver, Canada. The simulation which includes fusion and soil water flow effects, provides a working example of a simulation-sensitivity experiment in climatology and therefore has implications which transcend the rather restricted subject of diurnal soil frost effects. Die Temperatur der Bodenoberfläche, die Strahlungsbilanz und die Bodenbewegung werden in einem Rechenmodell benützt, das die Eisnadelbildung in Vancouver, Kanada, simuliert. Das Modell, welches den Gefriervorgang und den Effekt der Wasserströmung im Boden einbezieht, stellt ein Beispiel eines Simulations- und Sensitivitätsexperiments in der Klimatologie dar, welches über die Belange des beschränkten Sachgebietes der Bodenfrosteffekte hinausgeht.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/41665/1/704_2005_Article_BF02253559.pd

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

Background: Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. Methods: We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results: The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions: This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders