Isotopic studies in the natural sources of radium in groundwater in Illinois

Stable and radioactive isotopes in groundwater were studied in an investigation of the natural geologic sources of high concentrations of ²²⁶Ra and ²²⁸Ra in confined aquifers in the Cambrian and Ordovician bedrock of northern Illinois. The covariation of ¹⁸0 and D determined that the groundwater has a meteoric isotopic composition. Groundwater in unconfined aquifers has ¹⁸0 values (-6.6 to -7.9⁰/₀₀) that are similar to contemporary meteoric water. However, a source of recharge related to glaciation is required for groundwater in confined aquifers of the Cambrian and Ordovician that is significantly depleted in ¹⁸0 (¹⁸0 values range to -12.7⁰/₀₀ and are less than -9⁰/₀₀ over large regions) . The covariation of ³⁴S and ¹⁸0 in dissolved sulfates determined a mixing line between two sources; oxidation of sulfide minerals and dissolution of marine evaporites. Dissolved sulfates from evaporite sources are present in large concentrations in confined aquifers but are of a different isotopic composition than evaporites of Cambrian or Ordovician age. Glaciation may be important with regard to recharge of the sulfates. The ²³⁴U/²³⁸U activity ratio in groundwater from the Cambrian and Ordovician are unexpectedly high; values range from 2.1 to 40.7. The lowest ratios occur in primary recharge zones. In confined aquifers values are greater than 20 over large regions. Alpha recoil damage is a mechanism that contributes to the disequilibrium. However, the regional variation in activity ratios and in ²³⁴U concentrations supports the concept that glacial recharge has contributed to the high ratios. Radiological and geochemical mechanisms that partition ²³⁸U, ²³⁴U and ²³⁰Th on the sandstone matrix are important to the dissolved ²²⁶Ra concentration.U.S. Department of the InteriorU.S. Geological Surve

Advocating For Science: Amici Curiae Brief Of Wetland And Water Scientists In Support Of The Clean Water Rule

The Trump administration has proposed replacing the Clean Water Rule, a 2015 regulation that defined the statutory term waters of the United States to clarify the geographic jurisdiction of the Clean Water Act. Since its promulgation, the Clean Water Rule has been subjected to numerous judicial challenges. We submitted an amici curiae brief to the United States Court of Appeals for the Sixth Circuit, explaining why the Clean Water Rule, and its definition of waters of the United States, is scientifically sound. The definition of waters of the United States is a legal determination informed by science. The best available science supports the Clean Water Rule\u27s categorical treatment of tributaries because compelling scientific evidence demonstrates that tributaries significantly affect the chemical, physical, and biological integrity of traditional navigable waters (primary waters). Similarly, the best available science supports the Clean Water Rule\u27s categorical treatment of adjacent waters based on geographic proximity. Compelling scientific evidence demonstrates that waters within 100ft of an ordinary high water mark (OHWM) significantly affect the chemical, physical, and biological integrity of primary waters, as do waters within 100-year floodplains and waters within 1500ft of high tide lines of tidally influenced primary waters or OHWMs of the Great Lakes. This review article is adapted from that amici brief

Considering agency and data granularity in the design of visualization tools

The Ecuadorian Government supports Gonzalo Gabriel Méndez through a SENESCYT scholarship.Previous research has identified trade-offs when it comes to designing visualization tools. While constructive “bottom-up” tools promote a hands-on, user-driven design process that enables a deep understanding and control of the visual mapping, automated tools are more efficient and allow people to rapidly explore complex alternative designs, often at the cost of transparency. We investigate how to design visualization tools that support a user-driven, transparent design process while enabling efficiency and automation, through a series of design workshops that looked at how both visualization experts and novices approach this problem. Participants produced a variety of solutions that range from example-based approaches expanding constructive visualization to solutions in which the visualization tool infers solutions on behalf of the designer, e.g., based on data attributes. On a higher level, these findings highlight agency and granularity as dimensions that can guide the design of visualization tools in this space.Postprin

Detection and characterization of male sex chromosome abnormalities in the UK Biobank study

Purpose: The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes. Methods: We analyzed genotyping array or exome sequence data in 207,067 men of European ancestry aged 40 to 70 years from the UK Biobank and related these to extensive routine health record data. Results: Only 49 of 213 (23%) of men whom we identified with KS and only 1 of 143 (0.7%) with 47,XYY had a diagnosis of abnormal karyotype on their medical records or self-report. We observed expected associations for KS with reproductive dysfunction (late puberty: risk ratio [RR] = 2.7; childlessness: RR = 4.2; testosterone concentration: RR = -3.8 nmol/L, all P < 2 x 10(-8)), whereas XYY men appeared to have normal reproductive function. Despite this difference, we identified several higher disease risks shared across both KS and 47,XYY, including type 2 diabetes (RR = 3.0 and 2.6, respectively), venous thrombosis (RR = 6.4 and 7.4, respectively), pulmonary embolism (RR = 3.3 and 3.7, respectively), and chronic obstructive pulmonary disease (RR = 4.4 and 4.6, respectively) (all P Conclusion: KS and 47,XYY were mostly unrecognized but conferred substantially higher risks for metabolic, vascular, and respiratory diseases, which were only partially explained by higher levels of body mass index, deprivation, and smoking. (C) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.Peer reviewe

CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity

Amplification of the C19MC oncogenic miRNA cluster and high LIN28 expression has been linked to a distinctly aggressive group of cerebral CNS-PNETs (group 1 CNS-PNETs) arising in young children. In this study, we sought to evaluate the diagnostic specificity of C19MC and LIN28, and the clinical and biological spectra of C19MC amplified and/or LIN28+ CNS-PNETs. We interrogated 450 pediatric brain tumors using FISH and IHC analyses and demonstrate that C19MC alteration is restricted to a sub-group of CNS-PNETs with high LIN28 expression; however, LIN28 immunopositivity was not exclusive to CNS-PNETs but was also detected in a proportion of other malignant pediatric brain tumors including rhabdoid brain tumors and malignant gliomas. C19MC amplified/LIN28+ group 1 CNS-PNETs arose predominantly in children <4 years old; a majority arose in the cerebrum but 24 % (13/54) of tumors had extra-cerebral origins. Notably, group 1 CNS-PNETs encompassed several histologic classes including embryonal tumor with abundant neuropil and true rosettes (ETANTR), medulloepithelioma, ependymoblastoma and CNS-PNETs with variable differentiation. Strikingly, gene expression and methylation profiling analyses revealed a common molecular signature enriched for primitive neural features, high LIN28/LIN28B and DNMT3B expression for all group 1 CNS-PNETs regardless of location or tumor histology. Our collective findings suggest that current known histologic categories of CNS-PNETs which include ETANTRs, medulloepitheliomas, ependymoblastomas in various CNS locations, comprise a common molecular and diagnostic entity and identify inhibitors of the LIN28/let7/PI3K/mTOR axis and DNMT3B as promising therapeutics for this distinct histogenetic entity. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00401-014-1291-1) contains supplementary material, which is available to authorized users

Congenital hypothyroidism

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis of infants detected by screening and started on treatment early is excellent, with IQs similar to sibling or classmate controls. Studies show that a lower neurocognitive outcome may occur in those infants started at a later age (> 30 days of age), on lower l-thyroxine doses than currently recommended, and in those infants with more severe hypothyroidism

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

: Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified 43 genomic loci associated with either number of children ever born (NEB) or childlessness. These loci span diverse aspects of reproductive biology, including puberty timing, age at first birth, sex hormone regulation, endometriosis and age at menopause. Missense variants in ARHGAP27 were associated with higher NEB but shorter reproductive lifespan, suggesting a trade-off at this locus between reproductive ageing and intensity. Other genes implicated by coding variants include PIK3IP1, ZFP82 and LRP4, and our results suggest a new role for the melanocortin 1 receptor (MC1R) in reproductive biology. As NEB is one component of evolutionary fitness, our identified associations indicate loci under present-day natural selection. Integration with data from historical selection scans highlighted an allele in the FADS1/2 gene locus that has been under selection for thousands of years and remains so today. Collectively, our findings demonstrate that a broad range of biological mechanisms contribute to reproductive success