10/05/2024


And the DOX release from hydrogel scaffold can be adjusted by the pH value of release environment. All of the results indicate that the porous DN CS/PVA hydrogel scaffolds have great application potential for tissue regeneration.Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity. Whole genome sequencing (WGS) has been applied as a single-step clinical diagnostic tool for ID because it detects genetic variations with a wide range of resolution from single nucleotide variants (SNVs) to structural variants (SVs). To explore the causative genes for ID, we employed WGS in 45 patients from 44 unrelated Japanese families and performed a stepwise screening approach focusing on the coding variants in the genes. Here, we report 12 pathogenic and likely pathogenic variants seven heterozygous variants of ADNP, SATB2, ANKRD11, PTEN, TCF4, SPAST, and KCNA2, three hemizygous variants of SMS, SLC6A8, and IQSEC2, and one homozygous variant in AGTPBP1. Of these, four were considered novel. Furthermore, a novel 76 kb deletion containing exons 1 and 2 in DYRK1A was identified. We confirmed the clinical and genetic heterogeneity and high frequency of de novo causative variants (8/12, 66.7%). This is the first report of WGS analysis in Japanese patients with ID. Our results would provide insight into the correlation between novel variants and expanded phenotypes of the disease.
Obesity is a serious and common complex disease caused by the influence of genetic and environmental factors. Therefore, we aimed to evaluate the effect of genetic variants on obesity and the possibility of preventing obesity through physical activity using association analysis.

This study analyzed the association between obesity and variants in the MACROD2 gene in the Korean association resource (KARE) cohort using logistic regression analysis. Linear regression analysis was performed for obesity-related phenotype traits including body mass index (BMI), body fat percentage (BFP), abdominal fat percentage (AbFP), and the waist-to-hip ratio (WHR). The level of physical activity was analyzed by dividing the participants into two groups according to the cutoff of one hour or more of daily intense activity.

As a result, rs6079275 in the MACROD2 gene had the highest significance in obesity and phenotypic characteristics. Minor allele carriers (CC, CG) of rs6079275 decreased the obesity risk (OR=0.57, 95% CI=0.40-0.82, p=2.34×10
) and showed a tendency to decrease the risk of BMI (β=-0.312, p=8.99×10
), BFP (β=-0.482, p=4.19×10
) and AbFP (β=-0.0051, p=5.96×10
). In addition, the participants with the minor allele (C) of rs6079275 had a reduced obesity risk with high physical activity (OR=0.23, 95% CI 0.14-0.93, p=0.036).

This study demonstrated that variants in the MACROD2 gene were correlated with obesity, phenotypic traits, and physical activity in the Korean population. Therefore, we suggest the possibility of preventing obesity by identifying this genetic variation and the interactive effect of lifestyle in Koreans.
This study demonstrated that variants in the MACROD2 gene were correlated with obesity, phenotypic traits, and physical activity in the Korean population. Therefore, we suggest the possibility of preventing obesity by identifying this genetic variation and the interactive effect of lifestyle in Koreans.The emergence of new psychoactive drugs in the market demands rapid and accurate tools for the on-site classification of illegal and legal compounds with similar structures. Herein, a novel method for the classification of synthetic cathinones (SCs) is presented based on their electrochemical profile. https://www.selleckchem.com/products/dj4.html First, the electrochemical profile of five common SC (i.e., mephedrone, ethcathinone, methylone, butylone, and 4-chloro-alpha-pyrrolidinovalerophenone) is collected to build calibration curves using square wave voltammetry on graphite screen-printed electrodes (SPEs). Second, the elucidation of the oxidation pathways, obtained by liquid chromatography-high-resolution mass spectrometry, allows the pairing of the oxidation products to the SC electrochemical profile, providing a selective and robust classification. Additionally, the effect of common adulterants and illicit drugs on the electrochemical profile of the SC is explored. Interestingly, a cathodic pretreatment of the SPE allows the selective detection of each SC in presence of electroactive adulterants. Finally, the electrochemical approach is validated with gas chromatography-mass spectrometry by analyzing 26 confiscated samples from seizures and illegal webshops. Overall, the electrochemical method exhibits a successful classification of SC including structural derivatives, a crucial attribute in an ever-diversifying drug market.The positive development of migrant children in China is hampered due to their unequal accessibility to quality urban education resources. This research aimed at exploring the developmental trajectories of migrant and urban children's literacy and mathematics performance, as well as the impact of family socioeconomic status (SES) and parenting styles, including the mediating effect of parenting styles, by comparing migrant children with their urban counterparts. Growth mixture modeling identified distinguishable trajectories of mathematics development for migrant children (i.e., "falling behind" and "keeping pace" groups) and urban children (i.e., "catching up" and "keeping pace" groups), as well as distinguishable trajectories of literacy development for migrant children (i.e., "jumpstarting" and "keeping pace" groups) and urban children ("falling behind" and "steadily progressing" groups). Multinomial logistic regression analyses further clarified that authoritative parenting increased the likelihood of favorable trajectories of migrant children's mathematics development and urban children's literacy and mathematics development. Family SES enhanced migrant children's mathematics development. Family SES contributed to urban children's literacy development through authoritative parenting, yet such a mediating effect was not observed for migrant children. This study highlights the importance of focusing on distinct trajectories of migrant and urban children's literacy and mathematics in improving their school achievement.