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BACKGROUND: Fine particulate matter (PM2.5) exposure has been associated with liver cancer incidence and mortality in a limited number of studies. We sought to evaluate this relationship for the first time in a U.S. cohort with historical exposure assessment. METHODS: We used spatiotemporal prediction models to estimate annual average historical PM2.5 concentrations (1980-2015) at residential addresses of 499,729 participants in the NIH-AARP Diet and Health Study, a cohort in 6 states (California, Florida, Louisiana, New Jersey, North Carolina, and Pennsylvania) and 2 metropolitan areas (Atlanta, Georgia, and Detroit, Michigan) enrolled in 1995-1996 and followed up through 2017. We used a time-varying Cox model to estimate the association for liver cancer and the predominant histologic type, hepatocellular carcinoma (HCC), per 5 µg/m3 increase in estimated outdoor PM2.5 levels, incorporating a 5-year average, lagged 10 years prior to cancer diagnosis and adjusting for age, sex, race/ethnicity, education level and catchment state. We also evaluated PM2.5 interactions with hypothesized effect modifiers. RESULTS: We observed a non-significantly increased risk of liver cancer associated with estimated PM2.5 exposure (Hazard ratio [HR] = 1.05 [0.96-1.14], N = 1,625); associations were slightly stronger for HCC, (84 % of cases; HR = 1.08 [0.98-1.18]). Participants aged 70 or older at enrollment had an increased risk of liver cancer versus other age groups (HR = 1.50 [1.01-2.23]); p-interaction = 0.01) and risk was elevated among participants who did not exercise (HR = 1.81 [1.22-2.70]; p-interaction = 0.01). We found no evidence of effect modification by sex, smoking status, body mass index, diabetes status, or alcohol consumption (p-interaction > 0.05). CONCLUSIONS: Our findings in this large cohort suggest that residential ambient PM2.5 levels may be associated with liver cancer risk. Further exploration of the variation in associations by age and physical activity are important areas for future research.

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INTRODUCTION: The pathogenic variants in DEAH-box RNA helicase DHX37 are one of the major causes of 46,XY gonadal dysgenesis and TRS. To date, only 13 different missense variants have been reported. We report two additional cases with different clinical presentation carrying two novel variants in the DHX37 gene. CASE PRESENTATION AND RESULTS: Case 1 (4.4-year-old boy), presented with significant micropenis and cryptorchidism and was diagnosed as TRS. Case 2 (13.5-year-old girl), had a 46,XY karyotype with female external genitalia and was diagnosed as GD. Two novel DHX37 variants affecting the RecA2 domain, p.G478R and p.L627F, were identified in these cases. Both variants identified in the probands were also present in their unaffected mother. DISCUSSION/CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.

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BACKGROUND AND AIM: Per- and polyfluoroalkyl substances (PFAS) are ubiquitous in the environment and in the serum of the U.S. POPULATION: We sought to evaluate the association of PFAS independently and jointly with alcohol intake on liver function biomarkers in a sample of the U.S. general population. METHODS: Using data from the National Health and Nutrition Examination Survey (2003-2016; N = 11,794), we examined the five most historically prevalent PFAS with >75% detection rates. We estimated odds ratios (OR) and 95% confidence intervals (CI) for the association between PFAS (quartiles and log-transformed continuous, ng/mL) and high levels (>95th percentile) of liver injury biomarkers using logistic regression models adjusted for key confounders. We evaluated interactions between PFAS and alcohol consumption and sex via stratified analyses and conducted sub-analyses adjusting for daily alcohol intake among those with available drinking history (N = 10,316). RESULT: Serum perfluorooctanoic acid (PFOA) was positively associated with high levels of alanine transferase (ALT) without monotonic trend (ORQ4vsQ1 = 1.45, CI: 0.99-2.12; p-trend = 0.18), and with increased aspartate transaminase when modeled continuously (OR = 1.15, CI: 1.02-1.30; p-trend = 0.03). Perfluorooctane sulfonate (PFOS) and perfluorohexane sulfonate (PFHxS) were both inversely associated with alkaline phosphatase while a trend was evident only for PFHxS (p = 0.02). A non-monotonic inverse association was observed with PFOA (p-trend = 0.10). The highest quartile of PFOS was associated with high total bilirubin (TB; ORQ4vsQ1 = 1.57, CI: 1.01-2.43, p-trend = 0.02). No significant associations were found between any PFAS and γ-glutamyl transpeptidase. We found no associations for perfluorodecanoic acid and perfluorononanoic acid. We observed some suggestive interactions with alcohol intake, particularly among heavy drinkers. CONCLUSION: Consistent with other studies, serum levels of PFOA, PFHxS and PFNA were positively associated with high levels of ALT, and we also observed weak positive associations between some PFAS and TB. Associations observed among heavy drinkers warrant additional evaluation.

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Plant hyperosmolality-gated calcium-permeable channel (OSCA) is a calcium permeable cation channel that responds to hyperosmotic stress and plays a pivotal role in plant growth, development and stress response. Through a genome-wide survey, 41 OSCA genes were identified from the genome of Brassica napus. The OSCA family genes were unevenly distributed over 14 chromosomes of B. napus and phylogenetic analysis separated the OSCA family into four clades. Motif analyses indicated that OSCA proteins in the same clade were highly conserved and the protein conserved motifs shared similar composition patterns. The OSCA promoter regions contained many hormone-related elements and stress response elements. Gene duplication analysis elucidated that WGD/segmental duplication was the main driving force for the expansion of OSCA genes during evolution and these genes mainly underwent purifying selection. RNA-seq and qRT-PCR analysis of different tissues showed that OSCA genes are expressed and function mainly in the root. Among these genes, BnOSCA3.1a and BnOSCA3.1c had relatively high expression levels under osmotic stresses and cold stress and were highly expressed in different tissues. Protein interaction network analysis showed that a total of 5802 proteins might interact with OSCAs in B. napus, while KEGG/GO enrichment analysis indicated that OSCAs and their interacting proteins were mainly involved in plant response to abiotic stress. This systematic analysis of the OSCAs in B. napus identified gene structures, evolutionary features, expression patterns and related biological processes. These findings will facilitate further functional and evolutionary analysis of OSCAs in B. napus for breeding of osmotic-stress-resistant plants.

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On December 13, 2019, the Yale School of Public Health hosted a symposium titled "Per- and Polyfluoroalkyl Substances (PFAS): Challenges and Opportunities" in New Haven, Connecticut. The meeting focused on the current state of the science on these chemicals, highlighted the challenges unique to PFAS, and explored promising opportunities for addressing them. It brought together participants from Yale University, the National Institute of Environmental Health Sciences, the University of Massachusetts Amherst, the University of Connecticut, the Connecticut Agricultural Experiment Station, the Connecticut Departments of Public Health and Energy and Environmental Protection, and the public and private sectors. Presentations during the symposium centered around several primary themes. The first reviewed the current state of the science on the health effects associated with PFAS exposure and noted key areas that warranted future research. As research in this field relies on specialized laboratory analyses, the second theme considered commercially available methods for PFAS analysis as well as several emerging analytical approaches that support health studies and facilitate the investigation of a broader range of PFAS. Since mitigation of PFAS exposure requires prevention and cleanup of contamination, the third theme highlighted new nanotechnology-enabled PFAS remediation technologies and explored the potential of green chemistry to develop safer alternatives to PFAS. The fourth theme covered collaborative efforts to assess the vulnerability of in-state private wells and small public water supplies to PFAS contamination by adjacent landfills, and the fifth focused on strategies that promote successful community engagement. This symposium supported a unique interdisciplinary coalition established during the development of Connecticut's PFAS Action Plan, and discussions occurring throughout the symposium revealed opportunities for collaborations among Connecticut scientists, state and local officials, and community advocates. In doing so, it bolstered the State of Connecticut's efforts to implement the ambitious initiatives that its PFAS Action Plan recommends.

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It has been known that at high density, banana-shaped molecules are packed into a bent configuration locally, giving rise to interesting liquid-crystalline phases such as splay bend and twist bend. These spontaneous bend states can be modeled theoretically by allowing the bend elastic constant in the Frank elastic energy to become negative. Here, we extend this idea to banana-shaped and pizza-slice-shaped molecules with ferrointeractions, which can display both splayed and bent states. We model this by allowing both splay and bend elastic constants in the effective Frank elastic energy to be negative. In particular, we predict two new liquid-crystalline splay-bend phases. Furthermore, using renormalization group analysis, we showed that the phase transition belongs to a new constrained ferromagnet universality class.

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Humans could be exposed to ingredients in personal care products (PCPs) via ingestion of water originated from contaminated water source, yet little attention has been focused on the distribution of benzophenones, parabens and triclosan in the Yangtze River water from China so far. Benzophenones, parabens and triclosan were analyzed in the water samples from 20 various sites in the middle reach of the Yangtze River, China from March to July, and September during 2015. Among the targeted compounds, p-hydroxybenzoic acid (PHBA, a paraben metabolite) was found with the highest concentration (median: 510 ng/L), followed by benzophenone-1 (2.79 ng/L), methylparaben (MeP, median 2.72 ng/L) and triclosan (median: 1.85 ng/L). Significant differences were observed in seasonal variations for most observed compounds. Parabens and benzophenones showed higher concentrations in spring while triclosan and PHBA showed higher concentration in summer. Spatial variations of benzophenone-1 were observed among 20 sampling sites, whereas other benzophenones, parabens and triclosan distributed evenly comparatively. Human exposure assessment showed higher estimated daily intake of the detected compounds for infants and toddlers from water than adults, implicating that infants may experience a higher exposed risk than adults. This study provides evidence that parabens, benzophenones and triclosan commonly occurred in the Yangtze River.

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