Geological and geophysical study of the origin of the warm springs in Bath County, Virginia. Final report, June 1, 1975--April 30, 1976

The results of heat flow determinations and a reconnaissance dipole electrical resistivity survey in Bath County are described. A geologic map was compiled based on published maps and supported by reconnaissance geologic mapping in areas where published maps were not available. A regional bipole--dipole electrical resistivity survey was made in order to detect the presence of resistivity lows that might be associated with a geothermal system at depth. A single hole was drilled to a depth of approximately 300 m (approx. 1000 feet) to obtain a heat flow value that is representative of the area. The data were used to attempt to arrive at a model that unambiguously explains the origin of the thermal springs

Hydrologically-driven crustal stresses and seismicity in the New Madrid Seismic Zone

The degree to which short-term non-tectonic processes, either natural and anthropogenic, influence the occurrence of earthquakes in active tectonic settings or ‘stable’ plate interiors, remains a subject of debate. Recent work in plate-boundary regions demonstrates the capacity for long-wavelength changes in continental water storage to produce observable surface deformation, induce crustal stresses and modulate seismicity rates. Here we show that a significant variation in the rate of microearthquakes in the intraplate New Madrid Seismic Zone at annual and multi-annual timescales coincides with hydrological loading in the upper Mississippi embayment. We demonstrate that this loading, which results in geodetically observed surface deformation, induces stresses within the lithosphere that, although of small amplitude, modulate the ongoing seismicity of the New Madrid region. Correspondence between surface deformation, hydrological loading and seismicity rates at both annual and multi-annual timescales indicates that seismicity variations are the direct result of elastic stresses induced by the water load

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

PURPOSE: Pathogenic autosomal recessive variants in CAD, encoding the multienzymatic protein initiating pyrimidine de novo biosynthesis, cause a severe inborn metabolic disorder treatable with a dietary supplement of uridine. This condition is difficult to diagnose given the large size of CAD with over 1000 missense variants and the nonspecific clinical presentation. We aimed to develop a reliable and discerning assay to assess the pathogenicity of CAD variants and to select affected individuals that might benefit from uridine therapy. METHODS: Using CRISPR/Cas9, we generated a human CAD-knockout cell line that requires uridine supplements for survival. Transient transfection of the knockout cells with recombinant CAD restores growth in absence of uridine. This system determines missense variants that inactivate CAD and do not rescue the growth phenotype. RESULTS: We identified 25 individuals with biallelic variants in CAD and a phenotype consistent with a CAD deficit. We used the CAD-knockout complementation assay to test a total of 34 variants, identifying 16 as deleterious for CAD activity. Combination of these pathogenic variants confirmed 11 subjects with a CAD deficit, for whom we describe the clinical phenotype. CONCLUSIONS: We designed a cell-based assay to test the pathogenicity of CAD variants, identifying 11 CAD-deficient individuals who could benefit from uridine therapy

The interior of the SNR RX J0852.0-4622 (Vela Jr) at radio wavelengths

Aim: We observed the center of the supernova remnant Vela Jr in radio continuum in order to search for a counterpart to the compact central X-ray source CXOU J085201.4-461753, possibly a neutron star candidate which could be the remnant of the supernova explosion. Method: Observations were made with the Australia Telescope Compact Array at 13 and 20 cm. Spectral indices were obtained using flux density correlations of the data which were spatially filtered to have the same u-v coverage. A multiwavelength search for counterparts to the compact central X-ray source was made. Results: We compiled a new catalogue of 31 small diameter radio sources, including the previously known source PMN J0853-4620, listing the integrated flux densities at 20 cm and, for half of the sources, the flux densities at 13 cm with the corresponding spectral indices. All sources are unresolved at the present angular resolution except for Source 18, which is clearly elongated and lies strikingly close to CXOU J085201.4-461753. Our observations show no evidence for the existence of a pulsar wind driven nebula associated with the point X-ray source. Furthermore, Source 18 has a thermal spectrum with index +0.8 +/- 0.4, and appears to be the counterpart of the optical source Wray 16-30. In spite of the absence of OIII emission lines as reported in the literature, we find that this object could be explained as a low emission planetary nebula belonging to the ``butterfly'' morphological class. Conclusions: We conclude that if the radio source 18 is actually a planetary nebula, then CXOU J085201.4-461753 is more likely to be related to it rather than to Vela Jr.Comment: 9 pages, 4 figures, to appear in Astronomy and Astrophysic

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variants in NDDs and a broad range of other clinical features. Here we report 10 individuals from nine families with rare missense THOC2 variants including the first case of a recurrent variant (p.Arg77Cys), and an additional individual with an intragenic THOC2 microdeletion (Del-Ex37-38). Ex vivo missense variant testing and patient-derived cell line data from current and published studies show 9 of the 14 missense THOC2 variants result in