Transcriptome and Small RNA Sequencing Reveals the Basis of Response to Salinity, Alkalinity and Hypertonia in Quinoa (Chenopodium quinoa Willd.).

Quinoa (Chenopodium quinoa Willd.) is a dicotyledonous cereal that is rich in nutrients. This important crop has been shown to have significant tolerance to abiotic stresses such as salinization and drought. Understanding the underlying mechanism of stress response in quinoa would be a significant advantage for breeding crops with stress tolerance. Here, we treated the low-altitude quinoa cultivar CM499 with either NaCl (200 mM), Na2CO3/NaHCO3 (100 mM, pH 9.0) or PEG6000 (10%) to induce salinity, alkalinity and hypertonia, respectively, and analyzed the subsequent expression of genes and small RNAs via high-throughput sequencing. A list of known/novel genes were identified in quinoa, and the ones responding to different stresses were selected. The known/novel quinoa miRNAs were also identified, and the target genes of the stress response ones were predicted. Both the differently expressed genes and the targets of differently expressed miRNAs were found to be enriched for reactive oxygen species homeostasis, hormone signaling, cell wall synthesis, transcription factors and some other factors. Furthermore, we detected changes in reactive oxygen species accumulation, hormone (auxin and ethylene) responses and hemicellulose synthesis in quinoa seedlings treated with stresses, indicating their important roles in the response to saline, alkaline or hyperosmotic stresses in quinoa. Thus, our work provides useful information for understanding the mechanism of abiotic stress responses in quinoa, which would provide clues for improving breeding for quinoa and other crops.

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.

Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490) in a Chinese case with a history of scarce leukocytosis, vision and hearing loss, frequent seizures, and severe intellectual and motor disability. Whole-exome sequencing (WES) followed by Sanger sequencing revealed novel compound heterozygous mutations in the chloride channel 7 (CLCN7) gene [c.982-1G > C and c.1208G > A (p. Arg403Gln)] in the affected individual, and subsequent familial segregation showed that each parent had transmitted a mutation. Our results confirmed that mutations in the CLCN7 gene caused ARO in a Chinese family. Additionally, our study expanded the clinical and allelic spectrum of the CLCN7 gene and enhanced the applications of WES technology in determining the etiology of prenatal diagnoses in fetuses with ultrasound anomalies.

Predictive Neural Computations Support Spoken Word Recognition: Evidence from MEG and Competitor Priming.

Human listeners achieve quick and effortless speech comprehension through computations of conditional probability using Bayes rule. However, the neural implementation of Bayesian perceptual inference remains unclear. Competitive-selection accounts (e.g., TRACE) propose that word recognition is achieved through direct inhibitory connections between units representing candidate words that share segments (e.g., hygiene and hijack share /haidʒ/). Manipulations that increase lexical uncertainty should increase neural responses associated with word recognition when words cannot be uniquely identified. In contrast, predictive-selection accounts (e.g., Predictive-Coding) propose that spoken word recognition involves comparing heard and predicted speech sounds and using prediction error to update lexical representations. Increased lexical uncertainty in words, such as hygiene and hijack, will increase prediction error and hence neural activity only at later time points when different segments are predicted. We collected MEG data from male and female listeners to test these two Bayesian mechanisms and used a competitor priming manipulation to change the prior probability of specific words. Lexical decision responses showed delayed recognition of target words (hygiene) following presentation of a neighboring prime word (hijack) several minutes earlier. However, this effect was not observed with pseudoword primes (higent) or targets (hijure). Crucially, MEG responses in the STG showed greater neural responses for word-primed words after the point at which they were uniquely identified (after /haidʒ/ in hygiene) but not before while similar changes were again absent for pseudowords. These findings are consistent with accounts of spoken word recognition in which neural computations of prediction error play a central role.SIGNIFICANCE STATEMENT Effective speech perception is critical to daily life and involves computations that combine speech signals with prior knowledge of spoken words (i.e., Bayesian perceptual inference). This study specifies the neural mechanisms that support spoken word recognition by testing two distinct implementations of Bayes perceptual inference. Most established theories propose direct competition between lexical units such that inhibition of irrelevant candidates leads to selection of critical words. Our results instead support predictive-selection theories (e.g., Predictive-Coding): by comparing heard and predicted speech sounds, neural computations of prediction error can help listeners continuously update lexical probabilities, allowing for more rapid word identification.

Diagnostic Value of Serum Procollagen III N-Terminal Peptide for Liver Fibrosis in Infantile Cholestasis.

Background: Several non-invasive markers have been reported as being effective for the assessment of fibrosis in adults with chronic viral hepatitis. The infantile liver is more susceptible to cholestasis, and it is important to promptly evaluate liver fibrosis to guide the clinical treatment. However, the clinical value of these markers in infants with cholestasis remains unknown. Aim: To investigate the correlation between serum laminin (LN), hyaluronic acid (HA), procollagen III N-terminal peptide (PIIINP) level, and liver fibrosis stage in infants with cholestasis. Methods: One hundred and thirty-seven term infants with cholestasis were included. Laparoscopic exploration and cholangiography were performed to diagnose or rule out biliary atresia. Serum LN, HA, and PIIINP were measured prior to laparoscopic exploration. Liver biopsy was performed for all patients. Liver fibrosis was staged on a five-point scale (F0-F4) according to the METAVIR scoring system. The correlation between serum markers and liver fibrosis stage was assessed. A receiver operator characteristic analysis was performed to determine the accuracy of serum markers for predicting the liver fibrosis stage. Results: Serum PIIINP and HA were positively correlated with liver fibrosis stage (r = 0.622, P < 0.001, and r = 0.41, P < 0.001, respectively). There was no significant correlation between serum LN and liver fibrosis stage (P > 0.05). Serum aspartate aminotransferase, total bilirubin, direct bilirubin, and PIIINP were independently correlated with the fibrosis stage on multivariate ordinal regression analysis. Receiver operating curve (ROC) analysis showed that serum PIIINP was the most effective for the diagnosis of fibrosis grade. The area under the ROC curves (AUROCs) for serum PIIINP for diagnosing fibrosis stages ≥F1, ≥F2, ≥F3, and F4 (cirrhosis) were 0.843, 0.789, 0.82, and 0.891, respectively. The cut-off serum PIIINP value for predicting fibrosis stage ≥F1 was 242.3 ng/mL, with 73.8% sensitivity and 90% specificity. The cut-off value for predicting cirrhosis was 698.7 ng/mL, with 75% sensitivity and 96% specificity. Conclusion: Serum PIIINP is a promising biomarker for predicting liver fibrosis stage, especially cirrhosis. Its assessment is a simple and non-invasive diagnostic method for liver fibrosis in infants with cholestasis.

Association between bisphenol a exposure and idiopathic central precocious puberty (ICPP) among school-aged girls in Shanghai, China.

BACKGROUND: Bisphenol A (BPA) is a well-known and widely used endocrine disrupter, but data on its association with childhood reproductive development are limited. OBJECTIVES: We investigated the possible relationship between exposure to BPA and idiopathic central precocious puberty (ICPP) in school-aged girls. METHODS: We conducted a 1:1 matched case-control study in Shanghai, China, between July 2011 and September 2012. This study included 136 school-aged (6 to 9 years old) girls diagnosed with ICPP and 136 controls matched for age and body mass index (BMI). We measured the urinary BPA concentrations of all the girls and examined the association with odds of having ICPP. Laboratory examinations including serum estradiol (E2) levels, basal and gonadotropin-releasing hormone (GnRH)-stimulated luteinizing hormone (LH), and follicle-stimulating hormone (FSH) levels, bone ages (BA), and uterine and ovarian sizes were conducted in the ICPP girls. RESULTS: Median concentrations of urinary BPA in the ICPP and control groups were 6.35 and 1.17 µg/g creatinine (Cr), respectively (p < 0.001). After adjustment for confounders, compared to those with the lowest concentrations of BPA, the highest concentrations were associated with a 9.08-fold increased odds of having ICPP [odds ratio (OR) = 9.08, (95% confidence interval (CI): 2.83-29.15)]. In the ICPP group, modest negative correlation was present between urinary BPA concentrations (µg/g Cr) and peak FSH levels [ß = -0.090 (95% CI: -0.178, -0.003), p = 0.044]. CONCLUSIONS: Our findings suggest that BPA exposure is associated with increased odds of having ICPP in school-aged girls, and the potential mechanism may be attributable to the relatively low FSH levels.