From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.

During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now.

Longer-term temporal trends in PFAS concentrations in Midwestern landfill leachate.

It is well documented that per- and polyfluoroalkyl substances (PFAS) are routinely detected in leachate from municipal solid waste (MSW) landfills. PFAS-containing products are ubiquitous in society and in end-of-life discarded materials. While considerable data have been generated in recent years for PFAS concentrations in landfill leachate, little published information exists concerning longer-term trends in leachate concentrations.

Modeling methane oxidation in landfill cover soils as indicator of functional stability with respect to gas management.

A performance-based method for evaluating methane (CH) oxidation as the best available control technology (BACT) for passive management of landfill gas (LFG) was applied at a municipal solid waste (MSW) landfill in central Washington, USA, to predict when conditions for functional stability with respect to LFG management would be expected. The permitted final cover design at the subject landfill is an all-soil evapotranspirative (ET) cover system. Using a model, a correlation between CH loading flux and oxidation was developed for the specific ET cover design.

A Barcoding Strategy Enabling Higher-Throughput Library Screening by Microscopy.

Dramatic progress has been made in the design and build phases of the design-build-test cycle for engineering cells. However, the test phase usually limits throughput, as many outputs of interest are not amenable to rapid analytical measurements. For example, phenotypes such as motility, morphology, and subcellular localization can be readily measured by microscopy, but analysis of these phenotypes is notoriously slow.

Modeling the effects of vegetation on methane oxidation and emissions through soil landfill final covers across different climates.

Plant roots are reported to enhance the aeration of soil by creating secondary macropores which improve the diffusion of oxygen into soil as well as the supply of methane to bacteria. Therefore, methane oxidation can be improved considerably by the soil structuring processes of vegetation, along with the increase of organic biomass in the soil associated with plant roots. This study consisted of using a numerical model that combines flow of water and heat with gas transport and oxidation in soils, to simulate methane emission and oxidation through simulated vegetated and non-vegetated landfill covers under different climatic conditions.

Mastering translational medicine: interdisciplinary education for a new generation.

Graduate-level education in translational medicine will require more than just scientific research.

Evaluation of the efficiency of an experimental biocover to reduce BTEX emissions from landfill biogas.

Landfill emissions include volatile organic compounds (VOCs) and, particularly, benzene, toluene, ethyl-benzene and xylene isomers (collectively called BTEX). The latter are the most common VOCs found in landfill biogas. BTEX affect air quality and may be harmful to human health.

Community-generated recommendations regarding the urban nutrition and tobacco environments: a photo-elicitation study in Philadelphia.

Introduction: Overweight, obesity, and tobacco use are major preventable causes of disability, disease, and death. In 2010, 25% of Philadelphia adults smoked, and 66% were overweight or obese. To address these health threats, the Philadelphia Department of Public Health launched Get Healthy Philly, an initiative to improve the city's nutrition, physical activity, and tobacco environments.

Absorption, distribution, metabolism, and excretion of [1-¹⁴C]-perfluorohexanoate ([¹⁴C]-PFHx) in rats and mice.

The absorption, tissue distribution, elimination, and metabolism of [1-¹⁴C]-PFHx in rats and mice dosed orally at 2 or 100 mg/kg was evaluated following a single dose or after 14 consecutive doses. Absorption was rapid in rats as evidenced by a short time to maximum concentration (C(max)) of 30 min in male rats and 15 min in female rats at both the 2 and 100mg/kg dose level. The plasma elimination half-life was somewhat longer in males (1.

Performance of a full-scale hydrogen-storage tank based on complex hydrides.

Designing and building a full scale hydrogen storage system revealed several engineering challenges and also demonstrated the capabilities of complex hydrides. Three kg of hydrogen was stored in a four module system using modified sodium alanate as the storage media. Extensive testing of this system demonstrated the ability to follow aggressive hydrogen demand schedules that simulate actual driving.

Microfluidic environment for high density hepatocyte culture.

We present a microfluidic bioreactor for culturing high-density arrays of hepatocytes in a tissue-like micro-architecture. The microfluidic environment mimicked physiological liver mass transport, enabling sustained culture of high density cells (>2,000 cells/mm(2)) without nutrient limitation for over 1 week. The key feature of this design was a microporous microfluidic barrier that formed a sieved-pocket to concentrate cells during loading.

Inducible expression of a degradation-resistant form of p27Kip1 causes growth arrest and apoptosis in breast cancer cells.

The cyclin-dependent kinase (CDK) inhibitor p27(Kip1) (p27) is an important regulator of cell cycle progression controlling the transition from G to S-phase. Low p27 levels or accelerated p27 degradation correlate with excessive cell proliferation and poor prognosis in several forms of cancer. Phosphorylation of p27 at Thr187 by cyclin E-CDK2 is required to initiate the ubiquitination-proteasomal degradation of p27.

A comprehensive assessment of p53-responsive genes following adenoviral-p53 gene transfer in Bcl-2-expressing prostate cancer cells.

The p53 protein can induce cell cycle arrest or apoptosis following activation in response to DNA damage. The function of p53 is largely mediated by regulating the expression of downstream target genes. Adenoviral-p53 gene transfer (Ad-p53) is currently being evaluated in clinical trials as a therapeutic intervention.

Certification assays for HIV-1-based vectors: frequent passage of gag sequences without evidence of replication-competent viruses.

A principal concern regarding the safety of HIV-1-based vectors is replication-competent lentivirus (RCL). We have developed two PCR assays for detecting RCL; the first detects recombination between gag regions in the transfer vector and the packaging construct (sensitivity of detection approximately 10-100 copies of target sequence). The second assay uses real-time PCR to detect vesicular stomatitis virus glycoprotein (VSVG) envelope DNA (sensitivity approximately 5-50 VSVG sequences).

A mammalian cell regulatory agent, CeReS-18, inhibits yeast cell proliferation but not bacterial replication.

A cell regulatory sialoglycopeptide, CeReS-18, purified from intact bovine cerebral cortex cells, has exhibited the capability of reversibly inhibiting cellular DNA synthesis and the proliferation of a wide array of mammalian cells. In the present study, the effect of CeReS-18 on the proliferation of bacterial ( Bacillus cereus and Escherichia coli) and yeast ( Saccharomyces cerevisiae and Schizosaccharomyces pombe) cells was investigated. The results showed that replication and viability of the bacterial cells were not affected by CeReS-18 at any concentration tested, including 15-fold higher than that used for inhibiting mouse 3T3 cell proliferation.

A cell regulatory agent, CeReS-18, inhibits mouse 3T6 cell proliferation but not polyomavirus replication.

We have purified a cell regulatory sialoglycopeptide, CeReS-18, from intact bovine cerebral cortex cells. This is an 18-kDa molecule that reversibly inhibits cellular DNA synthesis and the proliferation of a wide array of target cells. In the present study, the effect of CeReS-18 on mouse 3T6 host cell proliferation and polyomavirus replication was investigated.