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A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9 of PTCH1. I-Tasser and PyMol analyses indicated that the mutated protein patched homolog 1 (PTCH1) lacked 12 transmembrane domains and the intracellular and extracellular rings of ECD2 compared with the wild-type protein, resulting in a remarkably different structure from that of the wild-type protein. This case extends our knowledge of the mutation spectrum of NBCCS.

An acute diffuse pustular eruption occurred in a patient after secukinumab injection and then the clinical presentation has been related to streptococcus infection after it has been isolated from throat swabs. Pustulosisacuta generalisata was definitively diagnosed. Antibiotic treatment had a poor effect, but the response to glucocorticoids was better.

2,2′-Dibromobisphenol A (2,2′-DiBBPA) is frequently detected in the environment. However, the mobility of 2,2′-DiBBPA in the soil environment is poorly understood. The present study examined the effects of soil components such as the NaClO-resistant fraction, dithionite-citrate-bicarbonate -demineralized fraction, humin fraction, black carbon, DOC-removed fraction, exogenous dissolved organic carbon and heavy metal cations on the adsorption of 2,2′-DiBBPA on several types of agricultural soils. The adsorption isotherms on soils and soil components were well fitted to the linear isotherm equation. 2,2′-DiBBPA sorption onto soils was dominated by soil organic matter content (SOM) and affected by exogenous dissolved organic carbon. Linear regression relationships between adsorption capacity (Kd) and soil characteristics were evaluated to predict partitioning of 2,2′-DiBBPA. Black carbon played a predominant role in the adsorption of 2,2′-DiBBPA. Heavy metal ions significantly inhibited the adsorptive behavior of 2,2′-DiBBPA under alkaline conditions. Semiempirical linear relationships were observed between biota-sediment accumulation factors (1.18–2.47)/logarithm of bioconcentration factors (BCFs, 2.49–2.52) of 2,2′-DiBBPA in lugworms and Kd. These results allow for the prediction of the bioaccumulation of 2,2′-DiBBPA in other soils. Furthermore, values of log BCF > 1.0 indicate the preferential bioaccumulation of 2,2′-DiBBPA in biota. These data are of significance for understanding the migration of 2,2′-DiBBPA in agricultural soils and bioaccumulation in organisms.

The tissue-specific bioaccumulation of Dechlorane Plus (DP) isomers was investigated in two predator fish species (redtail catfish, RF; and oscar fish, OF) that were feeding on tiger barb (TB), which was exposed to syn-DP and anti-DP isomers. The biotransformation potential of DP isomers was examined by in vitro metabolism using fish liver microsomes. No difference in accumulation behaviors of DP isomers was observed between RF and OF, and the accumulation of both syn- and anti-DP isomers exhibiting a linear increase trend with the exposure time in all fish tissues. The assimilation efficiencies and depuration rates for syn-DP and anti-DP were determined to be the highest in the liver. Biomagnification factors (BMFs) for both syn-DP and anti-DP were higher than one in the serum and gastrointestinal tract of fish, whereas were less than one in the other tissues. The wet-weight concentrations of DP isomers in tissues were significantly correlated with the lipid contents in both fish species, indicating that the tissue distribution of DP isomers occurred through passive diffusion to the lipid compartments in vivo. Tissue-specific compositions of DP isomers were observed, with anti-DP selectively accumulating in the liver, gonad, serum, and gills, whilst syn-DP in the carcass and GI tract. However, after being normalized of all tissues, the fish showed no selective accumulation of DP isomers during the exposure period, and selective accumulation of syn-DP was observed during the depuration period. No potential DP metabolites were detected in the fish tissues and in vitro metabolism systems. The main cause of this stereoselective DP isomer accumulation could have been the selective excretion of anti-DP isomer through the fish feces.

A zebrafish behavioral model is prevalent and has potential to be an important component of chemical screening and toxicity evaluations. However, applications of such zebrafish behavioral assays remain limited because of flaws in monitoring procedures and designs and inconsistent test methodology among published studies. In the present study, a behavioral assay method based on zebrafish larvae was established for rapid chemical toxicity evaluation, which included the optimization of test conditions and the development of behavioral parameters, such as accumulated distance, frequency of active state, acceleration and mobility. To validate the reliability and investigate the specificity of the method developed, the behavioral effects were evaluated for a set of 28 chemicals (flame retardants, pesticides, fungicides or heavy metals) typically reported in the environment and showing effects by various modes of action (MOAs). Our results showed that the most suitable container and volume for behavioral tests of zebrafish larvae was 24-well plate containing 8-mm depth of solution, and the most appropriate developmental period for monitoring was at 5 days post-fertilization (dpf). Chemical exposure led to various dose-dependent responses of the behavioral parameters via different MOAs, e.g. estrogenic chemicals caused hyperactivity through neurodevelopment disturbance and neurotoxic chemicals led to hypoactivity through disruption of nerve signal transmission. Our results suggested that the optimized behavior monitioring method have the potential for identification and classification of neurotoxic chemicals.

Microcystin-LR (MC-LR) is widely distributed in the natural environment and causes hepatotoxicity. However, whether MC-LR promotes liver tumor progression remains controversial. krasV12 transgenic zebrafish were used as an inducible liver tumor model to evaluate the potential tumor-promoting effect of MC-LR. First, krasV12 transgenic larvae were exposed to 0, 0.1 and 1 mg/L MC-LR with 20 mg/L doxycycline (Dox) for 4 d. The gray values and histopathological examinations of the liver demonstrated that MC-LR aggravated liver tumor progression, which could be inhibited by the Protein arginine methyltransferase 5 (Prmt5) inhibitor compound 5 (CMP5). Second, 1-month-old juvenile transgenic zebrafish were exposed to 0, 20 mg/L Dox, 1 μg/L MC-LR, and 20 mg/L Dox with 0.1 or 1 μg/L MC-LR for 15 d to determine whether the exposure to environmental concentrations of MC-LR promoted hepatocellular carcinoma (HCC) progression. We found that environmental concentrations of MC-LR increased the hepatosomatic index (HSI) and gray value (intensity/area) and promoted HCC progression. The results indicate that environmental concentrations of MC-LR have the potential to promote liver tumor progression. Taken together, the present study demonstrates that MC-LR can promote tumor in krasV12 transgenic zebrafish and that the upregulation of prmt5 expression might contribute to MC-LR-mediated promotion of liver tumorigenesis.

The components of EAM are strongly correlated with LOD and play an important role in UT1-UTC and LOD prediction. However, the EAM dataset is prone to be noisy. In this study, we propose a hybrid method to reduce the noise of the EAM data and improve the accuracy of UT1-UTC and LOD predictions. We use the EOP data to denoise the EAM data, and use Kalman filtering to denoise the 1–6 days forecast of EAM. Then, we use the denoised EAM dataset to improve the UT1-UTC and LOD prediction. The denoised EAM dataset improved the prediction of UT1-UTC within 10 days by 20%. In addition, we found that by introducing two additional periodic (23.9 days and 91.3 days) components for the least-squares fitting, the accuracy of UT1-UTC and LOD prediction in the range of 30–80 days is significantly improved. In more than 430 UT1-UTC and LOD prediction experiments conducted during 2021–2022, the improvements in the 1–6 days forecast were significant. For the 6th day, 30th day, and 60th day, the MAE of UT1-UTC was 0.1592, 2.9169, and 6.7857 ms, respectively, corresponding to improvements of 31.35, 12.60, and 12.93%, respectively, when compared to predictions of Bulletin A. The MAE of LOD predictions on the 1st day, 6th day, 30th day, and 90th day was 0.0255, 0.0432, 0.1694, and 0.2505 ms, respectively, which improved by 26.09, 14.29, 6.36, and 3.76% when compared with our second EOPPCC method. [ABSTRACT FROM AUTHOR]