Quantum phase transition in ultrahigh mobility SiGe/Si/SiGe two-dimensional electron system

The metal-insulator transition (MIT) is an exceptional test bed for studying strong electron correlations in two dimensions in the presence of disorder. In the present study, it is found that in contrast to previous experiments on lower-mobility samples, in ultra-high mobility SiGe/Si/SiGe quantum wells the critical electron density, $n_{\text{c}}$, of the MIT becomes smaller than the density, $n_{\text{m}}$, where the effective mass at the Fermi level tends to diverge. Near the topological phase transition expected at $n_{\text{m}}$, the metallic temperature dependence of the resistance should be strengthened, which is consistent with the experimental observation of more than an order of magnitude resistance drop with decreasing temperature below $\sim1$ K.Comment: Misprints corrected. As publishe

The Mental and Physical Health of Mothers of Children with Special Health Care Needs in the United States

OBJECTIVE: To determine the prevalence of poor mental and physical health among mothers of children with special health care needs (CSHCN) and to determine the association between maternal health and the child\u27s number of special health care needs (SHCN) and severity of ability limitation. METHODS: We used the combined 2016-2018 National Survey of Children\u27s Health Dataset of 102,341 children ages 0-17 including 23,280 CSHCN. We used regression models to examine the associations of a child\u27s number of SHCN and ability limitations with maternal health. RESULTS: Twice as many mothers of CSHCN had poor mental and physical health compared to non-CSHCN (mental 10.3% vs. 4.0%, p \u3c .001; physical 11.9% vs 5.0%, p \u3c .001). In regression models, increased number of SHCN and severity of activity limitations were associated with significantly increased odds of poor maternal health. CONCLUSIONS FOR PRACTICE: Mothers of CSHCN have worse health compared to mothers of non-CSHCN, especially those who experience social disadvantage and those with children with complex SHCN or severe ability limitations. Interventions to improve the health of these particularly vulnerable caregivers of CSHCN are warranted

An Integrated Approach for Characterizing Aerosol Climate Impacts and Environmental Interactions

Aerosols exert myriad influences on the earth's environment and climate, and on human health. The complexity of aerosol-related processes requires that information gathered to improve our understanding of climate change must originate from multiple sources, and that effective strategies for data integration need to be established. While a vast array of observed and modeled data are becoming available, the aerosol research community currently lacks the necessary tools and infrastructure to reap maximum scientific benefit from these data. Spatial and temporal sampling differences among a diverse set of sensors, nonuniform data qualities, aerosol mesoscale variabilities, and difficulties in separating cloud effects are some of the challenges that need to be addressed. Maximizing the long-term benefit from these data also requires maintaining consistently well-understood accuracies as measurement approaches evolve and improve. Achieving a comprehensive understanding of how aerosol physical, chemical, and radiative processes impact the earth system can be achieved only through a multidisciplinary, inter-agency, and international initiative capable of dealing with these issues. A systematic approach, capitalizing on modern measurement and modeling techniques, geospatial statistics methodologies, and high-performance information technologies, can provide the necessary machinery to support this objective. We outline a framework for integrating and interpreting observations and models, and establishing an accurate, consistent, and cohesive long-term record, following a strategy whereby information and tools of progressively greater sophistication are incorporated as problems of increasing complexity are tackled. This concept is named the Progressive Aerosol Retrieval and Assimilation Global Observing Network (PARAGON). To encompass the breadth of the effort required, we present a set of recommendations dealing with data interoperability; measurement and model integration; multisensor synergy; data summarization and mining; model evaluation; calibration and validation; augmentation of surface and in situ measurements; advances in passive and active remote sensing; and design of satellite missions. Without an initiative of this nature, the scientific and policy communities will continue to struggle with understanding the quantitative impact of complex aerosol processes on regional and global climate change and air quality

Cadherin-4 plays a role in the development of zebrafish cranial ganglia and lateral line system

We previously reported that cadherin-4 (also called R-cadherin) was expressed by the majority of the developing zebrafish cranial and lateral line ganglia. Cadherin-4 (Cdh4) function in the formation of these structures in zebrafish was studied using morpholino antisense technology. Differentiation of the cranial and lateral line ganglia and lateral line nerve and neuromasts of the cdh4 morphants was analyzed using multiple neural markers. We found that a subset of the morphant cranial and lateral line ganglia were disorganized, smaller, with reduced staining, and/or with altered shape compared to control embryos. Increased cell death in the morphant ganglia likely contributed to these defects. Moreover, cdh4 morphants had shorter lateral line nerves and a reduced number of neuromasts, which was likely caused by disrupted migration of the lateral line primordia. These results indicate that Cdh4 plays a role in the normal formation of the zebrafish lateral line system and a subset of the cranial ganglia. Developmental Dynamics 236:893–902, 2007. © 2007 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/55963/1/21085_ftp.pd

The CuSPED Mission: CubeSat for GNSS Sounding of the Ionosphere-Plasmasphere Electron Density

The CubeSat for GNSS Sounding of Ionosphere-Plasmasphere Electron Density (CuSPED) is a 3U CubeSat mission concept that has been developed in response to the NASA Heliophysics program's decadal science goal of the determining of the dynamics and coupling of the Earth's magnetosphere, ionosphere, and atmosphere and their response to solar and terrestrial inputs. The mission was formulated through a collaboration between West Virginia University, Georgia Tech, NASA GSFC and NASA JPL, and features a 3U CubeSat that hosts both a miniaturized space capable Global Navigation Satellite System (GNSS) receiver for topside atmospheric sounding, along with a Thermal Electron Capped Hemispherical Spectrometer (TECHS) for the purpose of in situ electron precipitation measurements. These two complimentary measurement techniques will provide data for the purpose of constraining ionosphere-magnetosphere coupling models and will also enable studies of the local plasma environment and spacecraft charging; a phenomenon which is known to lead to significant errors in the measurement of low-energy, charged species from instruments aboard spacecraft traversing the ionosphere. This paper will provide an overview of the concept including its science motivation and implementation

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop more severe neuromuscular complications, an important disease subgroup known as DOA(+). Cytochrome c oxidase (COX)-negative fibres and multiple mitochondrial DNA (mtDNA) deletions have been identified in skeletal muscle biopsies from patients manifesting both the pure and syndromal variants, raising the possibility that the accumulation of somatic mtDNA defects contribute to the disease process. In this study, we investigated the mtDNA changes induced by OPA1 mutations in skeletal muscle biopsies from 15 patients with both pure DOA and DOA(+) phenotypes. We observed a 2- to 4-fold increase in mtDNA copy number at the single-fibre level, and patients with DOA(+) features had significantly greater mtDNA proliferation in their COX-negative skeletal muscle fibres compared with patients with isolated optic neuropathy. Low levels of wild-type mtDNA molecules were present in COX-deficient muscle fibres from both pure DOA and DOA(+) patients, implicating haplo-insufficiency as the mechanism responsible for the biochemical defect. Our findings are consistent with the 'maintenance of wild-type' hypothesis, the secondary mtDNA deletions induced by OPA1 mutations triggering a compensatory mitochondrial proliferative response in order to maintain an optimal level of wild-type mtDNA genomes. However, when deletion levels reach a critical level, further mitochondrial proliferation leads to replication of the mutant species at the expense of wild-type mtDNA, resulting in the loss of respiratory chain COX activity

Pluripotent Stem Cells Reveal Erythroid-specific Activities Of The Gata1 N-terminus

Germline GATA1 mutations that result in the production of an amino-truncated protein termed GATA1s (where s indicates short) cause congenital hypoplastic anemia. In patients with trisomy 21, similar somatic GATA1s-producing mutations promote transient myeloproliferative disease and acute megakaryoblastic leukemia. Here, we demonstrate that induced pluripotent stem cells (iPSCs) from patients with GATA1-truncating mutations exhibit impaired erythroid potential, but enhanced megakaryopoiesis and myelopoiesis, recapitulating the major phenotypes of the associated diseases. Similarly, in developmentally arrested GATA1-deficient murine megakaryocyte-erythroid progenitors derived from murine embryonic stem cells (ESCs), expression of GATA1s promoted megakaryopoiesis, but not erythropoiesis. Transcriptome analysis revealed a selective deficiency in the ability of GATA1s to activate erythroid-specific genes within populations of hematopoietic progenitors. Although its DNA-binding domain was intact, chromatin immunoprecipitation studies showed that GATA1s binding at specific erythroid regulatory regions was impaired, while binding at many nonerythroid sites, including megakaryocytic and myeloid target genes, was normal. Together, these observations indicate that lineage-specific GATA1 cofactor associations are essential for normal chromatin occupancy and provide mechanistic insights into how GATA1s mutations cause human disease. More broadly, our studies underscore the value of ESCs and iPSCs to recapitulate and study disease phenotypes.12539931005NIH [K08 HL093290, R01 DK100854, RC2 HL10166, P30 DK090969, R01 DK065806]American Society of Hematology Scholar Awar

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease). We have utilised the MRCWellcome Trust Human Developmental Biology Resource (HDBR), to perform in-situ hybridisation studies on embryonic tissues, revealing an early onset neuronal, retinal and renal expression pattern for AHI1. An almost identical pattern of expression is seen with CEP290 in human embryonic and fetal tissue. A novel finding is that both AHI1 and CEP290 demonstrate strong expression within the developing choroid plexus, a ciliated structure important for central nervous system development. To test if AHI1 and CEP290 may have co-evolved, we carried out a genomic survey of a large group of organisms across eukaryotic evolution. We found that, in animals, ahi1 and cep290 are almost always found together; however in other organisms either one may be found independent of the other. Finally, we tested in murine epithelial cells if Ahi1 was required for recruitment of Cep290 to the centrosome. We found no obvious differences in Cep290 localisation in the presence or absence of Ahi1, suggesting that, while Ahi1 and Cep290 may function together in the whole organism, they are not interdependent for localisation within a single cell. Taken together these data support a role for AHI1 and CEP290 in multiple organs throughout development and we suggest that this accounts for the wide phenotypic spectrum of AHI1 and CEP290 mutations in man