Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.

Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects in gene which encodes alpha and beta subunits of -acetylglucosamine (GlcNAc)-1-phosphotransferase. Neonatal presentation includes coarse facial features, restricted postnatal growth, generalized hypotonia, gingival hypertrophy and multiple skeletal anomalies. Here we present a case of a 26-week gestational age preterm infant with MLII who did not exhibit the typical facial features at birth; however, the diagnosis was suggested from abnormal placental pathology showing trophoblastic lipidosis and initial skeletal abnormalities from chest radiograph revealing generalized diffuse severe bone demineralizing disease and multiple fractures.

Extending the fossil record for foliicolous Dothideomycetes: Bleximothyrium ostiolatum gen. et sp. nov., a unique fly-speck fungus from the Lower Cretaceous of Virginia, USA.

Premise: Fossils can reveal long-vanished characters that inform inferences about the timing and patterns of diversification of living fungi. Through analyzing well-preserved fossil scutella, shield-like covers of fungal sporocarps, we describe a new taxon of early Dothideomycetes with a combination of characters unknown among extant taxa.

Methods: Macerated clays from the Potomac Group, lower Zone 1, from the Lower Cretaceous (Aptian, 125-113 Ma) of Virginia USA yielded one gymnospermous leaf cuticle colonized by 21 sporocarps of a single fungal morphotype.

Evidence for an extinct lineage of angiosperms from the Early Cretaceous of Patagonia and implications for the early radiation of flowering plants.

The pinnately lobed Aptian leaf fossil Mesodescolea plicata was originally described as a cycad, but new evidence from cuticle structure suggests that it is an angiosperm. Here we document the morphology and cuticle anatomy of Mesodescolea and explore its significance for early angiosperm evolution. We observed macrofossils and cuticles of Mesodescolea with light, scanning electron and transmission electron microscopy, and used phylogenetic methods to test its relationships among extant angiosperms.

A new epiphyllous fly-speck fungus from the Early Cretaceous Potomac Group of Virginia (125-112 Ma): , gen. et sp. nov.

Fly-speck fungi reproduce via thyriothecia that consist of sporogenous tissue appressed to cuticle surfaces of plant leaves and covered by a shield-like scutellum. Thyriothecial scutella likely evolved repeatedly in Dothideomycetes (Ascomycota), and their morphology varies by lineage. Fly-speck fungi have an exceptionally good fossil record that begins in the Mesozoic.

Loss of Dnmt3a induces CLL and PTCL with distinct methylomes and transcriptomes in mice.

Cytosine methylation of DNA is an epigenetic modification involved in the repression of genes that affect biological processes including hematopoiesis. It is catalyzed by DNA methyltransferases, one of which -DNMT3A- is frequently mutated in human hematologic malignancies. We have previously reported that Dnmt3a inactivation in hematopoietic stem cells results in chronic lymphocytic leukemia (CLL) and CD8-positive peripheral T cell lymphomas (PTCL) in EμSRα-tTA;Teto-Cre;Dnmt3a; Rosa26LOXP (Dnmt3a) mice.

Aberrant Promoter Hypomethylation in CLL: Does It Matter for Disease Development?

Over the last 30 years, studies of aberrant DNA methylation in hematologic malignancies have been dominated by the primary focus of understanding promoter hypermethylation. These efforts not only resulted in a better understanding of the basis of epigenetic silencing of tumor suppressor genes but also resulted in approval of hypomethylating agents for the treatment of several malignancies, such as myelodysplastic syndrome and acute myeloid leukemia. Recent advances in global methylation profiling coupled with the use of mouse models suggest that aberrant promoter hypomethylation is also a frequent event in hematologic malignancies, particularly in chronic lymphocytic leukemia (CLL).

Leaf energy balance modelling as a tool to infer habitat preference in the early angiosperms.

Despite more than a century of research, some key aspects of habitat preference and ecology of the earliest angiosperms remain poorly constrained. Proposed growth ecology has varied from opportunistic weedy species growing in full sun to slow-growing species limited to the shaded understorey of gymnosperm forests. Evidence suggests that the earliest angiosperms possessed low transpiration rates: gas exchange rates for extant basal angiosperms are low, as are the reconstructed gas exchange rates for the oldest known angiosperm leaf fossils.

Reconstructing relative genome size of vascular plants through geological time.

The strong positive relationship evident between cell and genome size in both animals and plants forms the basis of using the size of stomatal guard cells as a proxy to track changes in plant genome size through geological time. We report for the first time a taxonomic fine-scale investigation into changes in stomatal guard-cell length and use these data to infer changes in genome size through the evolutionary history of land plants. Our data suggest that many of the earliest land plants had exceptionally large genome sizes and that a predicted overall trend of increasing genome size within individual lineages through geological time is not supported.

Fossil evidence for Cretaceous escalation in angiosperm leaf vein evolution.

The flowering plants that dominate modern vegetation possess leaf gas exchange potentials that far exceed those of all other living or extinct plants. The great divide in maximal ability to exchange CO(2) for water between leaves of nonangiosperms and angiosperms forms the mechanistic foundation for speculation about how angiosperms drove sweeping ecological and biogeochemical change during the Cretaceous. However, there is no empirical evidence that angiosperms evolved highly photosynthetically active leaves during the Cretaceous.