98 research outputs found
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A Hydrostratigraphic Model of the Pahute Mesa - Oasis Valley Area, Nye County, Nevada
A 3-D hydrostratigraphic framework model has been built for the use of hydrologic modelers who are tasked with developing a model to determine how contaminants are transported by groundwater flow in an area of complex geology. The area of interest includes Pahute Mesa, a former nuclear testing area at the Nevada Test Site (NTS), and Oasis Valley, a groundwater discharge area down-gradient from contaminant source areas on Pahute Mesa. To build the framework model, the NTS hydrogeologic framework was integrated with an extensive collection of drill-hole data (stratigraphic, lithologic, and alteration data); a structural model; and several recent geophysical, geological, and hydrological studies to formulate a hydrostratigraphic system. The authors organized the Tertiary volcanic units in the study area into 40 hydrostratigraphic units that include 16 aquifers, 13 confining units, and 11 composite units. The underlying pre-Tertiary rocks were divided into six hydrostratigraphic units, including two aquifers and four confining units. The model depicts the thickness, extent, and geometric relationships of these hydrostratigraphic units (''layers'' in the model) along with all the major structural features that control them, including calderas and faults. The complexity of the model area and the non-uniqueness of some of the interpretations incorporated into the base model made it necessary to address alternative interpretations for some of the major features in the model. Six of these alternatives were developed so they could be modeled in the same fashion as the base model
Thoughts Regarding the Dimensions of Faults at Rainier and Aqueduct Mesas, Nye County, Nevada, Based on Surface and Underground Mapping
The geologic setting and history, along with observations through 50 years of detailed geologic field work, show that large-displacement (i.e., greater than 30 meters of displacement) syn- to post-volcanic faults are rare in the Rainier Mesa area. Faults observed in tunnels and drill holes are mostly tight, with small displacements (most less than 1.5 meters) and small associated damage zones. Faults are much more abundant in the zeolitized tuffs than in the overlying vitric tuffs, and there is little evidence that faults extend downward from the tuff section through the argillic paleocolluvium into pre-Tertiary rocks. The differences in geomechanical characteristics of the various tuff lithologies at Rainier Mesa suggest that most faults on Rainer Mesa are limited to the zeolitic units sandwiched between the overlying vitric bedded tuffs and the underlying pre-Tertiary units (lower carbonate aquifer–3, lower clastic confining unit–1, and Mesozoic granite confining unit)
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Observations on Faults and Associated Permeability Structures in Hydrogeologic Units at the Nevada Test Site
Observational data on Nevada Test Site (NTS) faults were gathered from a variety of sources, including surface and tunnel exposures, core samples, geophysical logs, and down-hole cameras. These data show that NTS fault characteristics and fault zone permeability structures are similar to those of faults studied in other regions. Faults at the NTS form complex and heterogeneous fault zones with flow properties that vary in both space and time. Flow property variability within fault zones can be broken down into four major components that allow for the development of a simplified, first approximation model of NTS fault zones. This conceptual model can be used as a general guide during development and evaluation of groundwater flow and contaminate transport models at the NTS
Consanguinity and reproductive health among Arabs
Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV
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