Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.

Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.

Recent advances in extracellular matrix manipulation for kidney organoid research.

The kidney plays a crucial role in maintaining the body's microenvironment homeostasis. However, current treatment options and therapeutic agents for chronic kidney disease (CKD) are limited. Fortunately, the advent of kidney organoids has introduced a novel model for studying kidney diseases and drug screening.

Propylthiouracil Induced Rat Model Reflects Heterogeneity Observed in Clinically Non-Obese Subjects with Nonalcoholic Fatty Liver Disease.

The prevalence of nonalcoholic fatty liver disease (NAFLD) is increasing, affecting up to 30% of the population, with approximately 20% of cases occurring in non-obese individuals. The recent shift to the term metabolic dysfunction-associated steatosis liver disease (MASLD) highlights the disease's heterogeneity. However, there are no well-established animal models replicating non-obese NAFLD (NO-NAFLD).

Effect of tea stems on the quality formation of large-leaf yellow tea: Sensomics and flavoromics approaches.

In this study, the stems (ST) and leaves (LT) isolated from Large-leaf yellow tea (LYT) were used for sensory evaluation and quantitative analysis of flavor metabolites by sensomics and flavoromics. The results showed that the flavors of ST and LT in LYT were significantly different, and ST had stronger roasty and nutty aroma and sweet taste, which was mainly due to the accumulation of higher theanine and soluble monosaccharides in ST, and provided more substrates for the production of more pyrazine by the Maillard reaction; whereas LT contributed to the mellow and thick taste quality of LYT, and the abundance of catechins and caffeine were the main reason. The metabolic patterns of flavor metabolites indicated that the flavor differences between ST and LT were mainly due to biological metabolism in tea plants.

Revealing the differences in aroma of black tea under different drying methods based on GC-MS, GC-O.

Drying greatly affects the aroma of black tea. In this study, the differences in aroma of black tea under hot-air drying (HD), sun drying (SD), and pan-fired drying (PD) were investigated through quantitative descriptive analysis. Headspace solid-phase microextraction and solvent assisted flavor evaporation combined with gas chromatography-mass spectrometry and gas chromatography-olfactory were used to analyze the overall aroma profile of black tea.

Variation in the Aroma Composition of Jasmine Tea with Storage Duration.

This study investigated the changes in the aroma of jasmine tea during storage. Solid-phase micro-extraction (SPME)-gas chromatography (GC)-mass spectrometry (MS) and stir bar sorptive extraction (SBSE)-GC-MS were combined to detect all volatile compounds. GC-olfactometry (GC-O), odor activity value (OAV), and -value were employed to analyze and identify the key aroma compounds in six jasmine tea samples stored for different durations.

Contribution of tea stems to large-leaf yellow tea aroma.

Large-leaf yellow tea (LYT) is processed from both leaves and stems, resulting in a distinctive rice crust-like aroma. Tea stems may contribute differently to the aroma of LYT than leaves. This study aimed to clarify the specific contribution of stems to LYT.

Fatty acid degradation driven by heat during ripening contributes to the formation of the "Keemun aroma".

Ripening refers to the process of chemical change during the refinement of Keemun black tea (KBT) and is crucial in the formation of Keemun Congou black tea's quality. In this study, the aroma composition of KBT during the ripening was analyzed. Sensomics indicated that ripening strengthened the coconut and fatty aroma of KBT and contributed to the decrease of green aroma substances, resulting in a shift of the overall aroma type of KBT to an integrated aroma profile, which was consistent with sensory evaluation.

Optimization of Conditions of Alkylamides Liposomes by Response Surface Methodology and the Absorption Characteristics of Liposomes in the Caco-2 Cell Monolayer Model.

alkylamides, as a numbing substance in has many physiological effects. However, the numbing taste and unstable properties limited its application. This study aimed to optimize the preparation process of alkylamides liposomes by response surface methodology (RSM) and to investigate the absorption characteristics of the liposomes through the Caco-2 cell monolayer model.

Preparation of starch-palmitic acid complexes by three different starches: A comparative study using the method of heating treatment and autoclaving treatment.

Recent research emphasizes the growing importance of starch-lipid complexes due to their anti-digestibility ability, prompting a need to explore the impact of different starch sources and preparation methods on their properties. In this study, starch-palmitic acid (PA) complexes were prepared by three different starches including Tartary buckwheat starch (TBS), potato starch (PTS), and pea starch (PS) by heating treatment (HT) and autoclaving treatment (AT), respectively, and their physicochemical property and in vitro digestibility were systematically compared. The formation of the starch-PA complex was confirmed through various characterization techniques, including scanning electron microscopy, differential scanning calorimetry, Fourier transform infrared spectroscopy, and X-ray diffraction.

Dynamic assessment of seawater quality based on semi-partial subtraction set pair potential method and game theory.

The assessment of seawater quality is a complex process as it involves the influence of several factors and is characterized by dynamic changes in these factors. Herein, a novel model coupled with the semi-partial subtraction set pair potential method (SSSPP) and game theory was discussed for the dynamic assessment of seawater quality. In the proposed model, the identity-discrepancy-contrary degrees were calculated to construct the evaluation matrix, and then the classification and the dynamic risk trends of the seawater quality were determined.

Comparing clinical features, severity and prognosis of autoimmune encephalitis and with and without oligoclonal bands.

Objective: This study aimed to examine the clinical distinctions among patients diagnosed with autoimmune encephalitis (AE) based on the presence or absence of cerebrospinal fluid (CSF) oligoclonal bands (OCBs). Additionally, it sought to explore the relationship between OCBs and the severity and prognosis of autoimmune encephalitis.

Methods: A retrospective analysis was conducted on 94 patients diagnosed with AE at the People's Hospital of Zhengzhou University between October 2016 and June 2022.

Degradation and Transformation Mechanisms of Alkylamides Exposed to UVB Light.

oleoresin, a concentrated extract derived from , is rich in non-volatile, intensely flavorful substances and amide compounds, such as hydroxy-α-sanshool, hydroxy-β-sanshool, and hydroxy-ε-sanshool. The production process of oleoresin remains unstandardized, and there is still a lack of research on the precise classification and quantification of its key chemical constituents, as well as the stability of these compounds when produced using different extraction methods. This study utilized preparative liquid chromatography to extract and purify amide compounds from oleoresin, successfully isolating three sanshools: hydroxy-α-sanshool, hydroxy-β-sanshool, and hydroxy-ε-sanshool.

Traditional Chinese Medicine formula, Sanwujiao granule, attenuates ischemic stroke by promoting angiogenesis through early administration.

Ethnopharmacological Relevance: Ischemic stroke (IS) is one of the most lethal diseases with the insufficient pharmacology therapeutic approach. Sanwujiao granule (SW) is widely used for IS in China with little known about its underlying mechanism.

Aim Of The Study: To investigate the characteristics of therapeutic effects and potential mechanisms of SW against IS.

Neurotoxicity study of ethyl acetate extract of Zanthoxylum armatum DC. on SH-SY5Y based on ROS mediated mitochondrial apoptosis pathway.

Ethnopharmacological Relevance: Zanthoxylum armatum DC. (ZADC) is a traditional medicinal plant with various pharmacological activities and is widely used in China, Japan, India, and other regions. Previous studies have revealed that the methanol extract of ZADC can cause neurotoxicity symptoms in rats, such as drooling, decreased appetite, decreased movement, and increased respiratory rate.

Assessing cell chimerism in an acute graft-versus-host disease model established in TLR4 knockout mice.

Background: Graft-versus-host disease (GVHD) is a major complication after allogeneic hematopoietic stem cell transplantation.

Objective: To elucidate the role of Toll-like receptor 4 (TLR4), the major receptor for bacterial lipopolysaccharide, in the development of GVHD, we constructed a GVHD model in TLR4 knockout (TLR4) mice and monitored the cell chimerism.

Methods: In this study, we used polymerase chain reaction to identify whether TLR4 knockout (TLR4) mice were established.

Zanthoxylum armatum DC fruit ethyl acetate extract site induced hepatotoxicity by activating endoplasmic reticulum stress and inhibiting autophagy in BRL-3A models.

Ethnopharmacological Relevance: Zanthoxylum armatum DC (Z. armatum) is renowned not only as a culinary spice but also as a staple in traditional ethnic medicine, predominantly in Southeast Asia and various other regions. Recent research has unveiled its multifaceted pharmacological properties, including anti-inflammatory, antibacterial, and toothache relief effects.

Interphase Engineering Enhanced Electro-chemical Stability of Prelithiated Anode.

Prelithiation is an essential technology to compensate for the initial lithium loss of lithium-ion batteries due to the formation of solid electrolyte interphase (SEI) and irreversible structure change. However, the prelithiated materials/electrodes become more reactive with air and electrolyte resulting in unwanted side reactions and contaminations, which makes it difficult for the practical application of prelithiation technology. To address this problem, herein, interphase engineering through a simple solution treatment after chemical prelithiation is proposed to protect the prelithiated electrode.

Revealing the mechanism of Zanthoxylum armatum DC. extract-induced liver injury in mice based on lipidomics.

Ethnopharmacological Relevance: Zanthoxylum armatum DC. (Z. armatum) is an herbal medicine with various active ingredients and pharmacological effects.

Temperature-dependent interphase formation and Li transport in lithium metal batteries.

High-performance Li-ion/metal batteries working at a low temperature (i.e., <-20 °C) are desired but hindered by the sluggish kinetics associated with Li transport and charge transfer.

Polymer Competitive Solvation Reduced Propylene Carbonate Cointercalation in a Graphitic Anode.

Polymer electrolytes have been studied as an alternative to organic liquid electrolytes but suffer from low ionic conductivity. Propylene carbonate (PC) proves to be an interesting solvent but is incompatible with graphitic anodes due to its cointercalation effect. In this work, adding poly(ethylene oxide) (PEO) into a PC-based electrolyte can alter the solvation structure as well as transform the solution into a polymer electrolyte with high ionic conductivity.

Chemometric Discrimination of Boiss. et Huet and L. via Their Metabolic Profiling, Antioxidative, and Hypoglycemic Activities.

Boiss. et Huet (CG) and L. (CI) are widely used as the main raw material of functional food with hepatoprotective and hypoglycemic effects.