Genomic Selection for Weaning Weight in Alpine Merino Sheep Based on GWAS Prior Marker Information.

This study aims to compare the accuracy of genomic estimated breeding values (GEBV) estimated using a genomic best linear unbiased prediction (GBLUP) method and GEBV estimates incorporating prior marker information from a genome-wide association study (GWAS) for the weaning weight trait in highland Merino sheep. The objective is to provide theoretical and technical support for improving the accuracy of genomic selection. The study used a population of 1007 highland Merino ewes, with the weaning weight at 3 months as the target trait. The population was randomly divided into two groups. The first group was used for GWAS analysis to identify significant markers, and the top 5%, top 10%, top 15%, and top 20% markers were selected as prior marker information. The second group was used to estimate genetic parameters and compare the accuracy of GEBV predictions using different prior marker information. The accuracy was obtained using a five-fold cross-validation. Finally, both groups were subjected to cross-validation. The study's findings revealed that the heritability of the weaning weight trait, as calculated using the GBLUP model, ranged from 0.122 to 0.394, with corresponding prediction accuracies falling between 0.075 and 0.228. By incorporating prior marker information from GWAS, the heritability was enhanced to a range of 0.125 to 0.407. The inclusion of the top 5% to top 20% significant SNPs from GWAS results as prior information into GS showed potential for improving the accuracy of predicting genomic breeding value.

Advances in noncoding RNA in children allergic rhinitis.

BACKGROUND: A chronic condition that significantly reduces a child's quality of life is allergic rhinitis (AR). The environment and allergens that the body is regularly exposed to can cause inflammatory and immunological reactions, which can change the expression of certain genes Epigenetic changes are closely linked to the onset and severity of allergy disorders according to mounting amounts of data. Noncoding RNAs (ncRNAs) are a group of RNA molecules that cannot be converted into polypeptides. The three main categories of ncRNAs include microRNAs (miRNAs), long noncoding RNAs (lncRNAs), and circular RNAs (circRNAs). NcRNAs play a crucial role in controlling gene expression and contribute to the development of numerous human diseases. METHODS: Articles are selected based on Pubmed's literature review and the author's personal knowledge. The largest and highest quality studies were included. The search selection is not standardized. RESULTS: Recent findings indicate that various categories of ncRNAs play distinct yet interconnected roles and actively contribute to intricate gene regulatory networks. CONCLUSION: This article demonstrates the significance and progress of ncRNAs in children's AR. The database covers three key areas: miRNAs, lncRNAs, and circRNAs. Additionally, potential avenues for future research to facilitate the practical application of ncRNAs as therapeutic targets and biomarkers will be explore.

Women's skin care behaviors: How to influence sunscreen use.

BACKGROUND: It is well known that women have been plagued by various skin problems. However, research on the characteristics of women's skin at different ages is still inadequate. In addition, there is a lack of research on the extent of women's skincare habits and skin care awareness. METHODS: A cross-sectional survey on skin was carried out in Shanghai, China, which was conducted by means of a questionnaire. 3678 women, aged 18-59 years, participated in the study. The information collected focused on the importance they place on their skin, the skin problems they have, and their use and perception of skin care products. RESULTS: Before the age of 25, the most common skin problems that women face are dryness and oiliness, while after the age of 30, skin-ageing issues begin to appear and worsen with age. In addition, the higher the level of education, the higher the frequency of and compliance with sunscreen use, and the economy also affects women's use of sunscreen. Importantly, the importance women place on their skin and the level of sunscreen awareness affects women's use of sunscreen. CONCLUSIONS: This study was conducted to understand the skin characteristics of women of different age groups as well as to determine the factors that influence the use of sunscreens, which will not only promote women's skin care practices and product development, but also provide important clues for future activities on sunscreen use and health promotion.

Chromosome-level genome assembly of Guide Black-Fur sheep (Ovis aries).

Guide Black-Fur sheep (GD) is a breed of Tibetan sheep (Ovis aries) that lives in the Qinghai-Tibetan plateau region at an altitude of over 4,000 m. However, a lack of genomic information has made it difficult to understand the high-altitude adaptation of these sheep. We sequenced and assembled the GD reference genome using PacBio, Hi-C, and Illumina sequencing technologies. The final assembled genome size was 2.73 Gb, with a contig N50 of 20.30 Mb and a scaffold N50 of 107.63 Mb. The genome is predicted to contain 20,759 protein-coding genes, of which 98.42 have functional annotations. Repeat elements account for approximately 52.2% of the genomic landscape. The completeness of the GD genome assembly is highlighted by a BUSCO score of 93.1%. This high-quality genome assembly provides a critical resource for future molecular breeding and genetic improvement of Tibetan sheep.

Transcriptome analysis revealed the role of moderate exogenous methyl jasmonate treatments in enhancing the metabolic pathway of L-borneol in the Blumea balsamifera.

Introduction: Blumea balsamifera L. (Ainaxiang) DC. is a perennial herb of the compositae family. It is also the primary source of natural borneol. Endo-borneol, the principal medical active element in B. balsamifera, is anti-inflammatory, antioxidant, and analgesic; enhances medicine absorption; refreshes; and is used as a spice and in cosmetic. Industrialization of B. balsamifera is limited by its low L-borneol concentration. Thus, understanding the accumulation pattern of the secondary metabolite endo-borneol and its synthesis process in secondary metabolism is critical for increasing B. balsamifera active ingredient content and cultivation efficiency. Methods: In this work, B. balsamifera was treated with varying concentrations (1.00 and 10.00 mmol/L) of methyl jasmonate (MeJA) as an exogenous foliar activator. The physiological parameters and L-borneol concentration were then assessed. Transcriptome sequencing of B. balsamifera-induced leaves was used to identify key genes for monoterpene synthesis. Results: The treatment effect of 1 mmol/L MeJA was the best, and the leaves of all three leaf positions accumulated the highest L-borneol after 120 h, correspondingly 3.043 mg·g-1 FW, 3.346 mg·g-1 FW, and 2.044 mg·g-1 FW, with significant differences from the control. The main assembly produced 509,285 transcripts with min and max lengths of 201 and 23,172, respectively. DEG analysis employing volcano blots revealed 593, 224, 612, 2,405, 1,353, and 921 upregulated genes and 4, 123, 573, 1,745, 766, and 763 downregulated genes in the treatments D1_1vsCK, D1_10vsCK, D2_1vsCK, D2_10vsCK, D5_1vsCK, and D5_10vsCK. Interestingly, when exposed to MeJA treatments, the MEP pathway's unigenes express themselves more than those of the MVA route. Finally, when treated with 1 mmol/L, the genes DXR, DXS, and GPS showed increased expression over time. At the same time, a 10 mmol/L therapy resulted in elevated levels of ispH and GGPS. Discussion: Our preliminary research indicates that exogenous phytohormones can raise the level of L borneol in B. balsamifera (L.) DC when given in the appropriate amounts. The most significant discovery made while analyzing the effects of different hormones and concentrations on B. balsamifera (L.) DC was the effect of 1 mmol/L MeJA treatment.

Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery.

BACKGROUND: Gangba sheep as a famous breed of Tibetan sheep, its wool color is mainly white and black. Gangba wool is economically important as a high-quality raw material for Tibetan blankets and Tibetan serge. However, relatively few studies have been conducted on the wool color of Tibetan sheep. RESULTS: To fill this research gap, this study conducted an in-depth analysis of two populations of Gangba sheep (black and white wool color) using whole genome resequencing to identify genetic variation associated with wool color. Utilizing PCA, Genetic Admixture, and N-J Tree analyses, the present study revealed a consistent genetic relationship and structure between black and white wool colored Gangba sheep populations, which is consistent with their breed history. Analysis of selection signatures using multiple methods (FST, π ratio, Tajima's D), 370 candidate genes were screened in the black wool group (GBB vs GBW); among them, MC1R, MLPH, SPIRE2, RAB17, SMARCA4, IRF4, CAV1, USP7, TP53, MYO6, MITF, MC2R, TET2, NF1, JAK1, GABRR1 genes are mainly associated with melanin synthesis, melanin delivery, and distribution. The enrichment results of the candidate genes identified 35 GO entries and 19 KEGG pathways associated with the formation of the black phenotype. 311 candidate genes were screened in the white wool group (GBW vs GBB); among them, REST, POU2F1, ADCY10, CCNB1, EP300, BRD4, GLI3, and SDHA genes were mainly associated with interfering with the differentiation of neural crest cells into melanocytes, affecting the proliferation of melanocytes, and inhibiting melanin synthesis. 31 GO entries and 22 KEGG pathways were associated with the formation of the white phenotype. CONCLUSIONS: This study provides important information for understanding the genetic mechanism of wool color in Gangba, and provides genetic knowledge for improving and optimizing the wool color of Tibetan sheep. Genetic improvement and selective breeding to produce wool of specific colors can meet the demand for a diversity of wool products in the Tibetan wool textile market.

New Clerodane Diterpenoids from Tinospora capillipes with Antibacterial and Anti-Inflammatory Properties.

Four new clerodane diterpenoids, namely tinocapills A-D (1-4), and one known analogue (5) were isolated from the roots of Tinospora capillipes in the present study. The structures of these new compounds, including their absolute configurations, were determined through a combination of detailed spectroscopic analysis and theoretical statistical approaches, including electronic circular dichroism (ECD) analyses and quantum mechanical (QM)-NMR methods. Additionally, the stereostructure of 5 was confirmed via X-ray diffraction analysis. Furthermore, all these isolates were evaluated for their antibacterial and anti-inflammatory activities. Compounds 1, 2 and 5 demonstrated antibacterial activity against methicillin-resistant Staphylococcus aureus (MRSA) with MICs ranging from 4 to 64 µg/mL, and compounds 3 and 4 exhibited potential anti-inflammatory effects by suppressing LPS-induced TNF-α and NO releases in RAW264.7 cells.

Thermal Protection Performance of Biomimetic Flexible Skin for Deformable High-Speed Vehicles (DHSV-bio-FS) under Uniaxial Tensile Strain.

Vehicle skin is the key component in maintaining the aerodynamic shape of the vehicle. A deformable high-speed vehicle needs to adjust its shape in real time to realize optimum aerodynamic efficiency and to withstand extreme heat flow induced by high-speed flight, which requires the skin to possess large strain and high-temperature resistance. Traditional vehicle skin cannot satisfy both of the requirements. Biomimetic flexible skin for deformable high-speed vehicles (DHSV-bio-FS) combines flexible material fabrication with transpiration cooling technology, which can simulate human skin sweat cooling, and has the characteristics of large strain and high-temperature resistance. The thermal protection performance of the prepared prototype of DHSV-bio-FS was evaluated by simulation and wind tunnel experiments at 40% tensile strain with liquid water as coolant. Simulation results suggest that the surface temperature of the DHSV-bio-FS at 40% tensile strain is consistent with the temperature of the coolant (350 K) in a 3,000 K high-temperature gas environment. In addition, the prepared prototype DHSV-bio-FS survived for 1,200 s in a high-temperature gas environment of 200 kW/m2 in wind tunnel experiments. This paper verifies the reliability of DHSV-bio-FS in a high-temperature gas environment and can be deployed in applications of flexible skin for deformable high-speed vehicles (DHSV-FS).

BrMYB116 transcription factor enhances Cd stress tolerance by activating FIT3 in yeast and Chinese cabbage.

Cd (cadmium) is a highly toxic heavy metal pollutant often present in soil and detrimentally impacting the production and quality of horticultural crops. Cd affects various physiological and biochemical processes in plants, including chlorophyll synthesis, photosynthesis, mineral uptake and accumulation, and hormonal imbalance, leading to cell death. The MYB family of transcription factors plays a significant role in plant response to environmental influences. However, the role of MYB116 in abiotic stress tolerance remains unclear. In this study, we reported that Chinese cabbage transcription factor BrMYB116 enhanced Cd stress tolerance in yeast. The expression level of BrMYB116 was increased by Cd stress in Chinese cabbage. Additionally, yeast cells overexpressing BrMYB116 showed improved Cd stress tolerance and reduced Cd accumulation. Moreover, we found that BrMYB116 interacted with facilitator of iron transport (FIT3) to enhance Cd stress tolerance. ChIP-qPCR results showed that ScFIT3 was activated through specific binding to its promoter. Additionally, the overexpression of ScFIT3 induced Cd stress tolerance and reduced Cd accumulation in yeast and Chinese cabbage. These results suggest new avenues for plant genomic modification to mitigate Cd toxicity and enhance the safety of vegetable production.

[Meta-analysis of plant restoration impacts on soil microbial community structure in mining areas]. / 植被恢复对矿区土壤微生物群落结构影响的整合分析.

Mining causes severe damage to soil ecosystems. Vegetation restoration in abandoned mine areas is an inevitable requirement for sustainable development. Soil microbes, as the most active component of soil organic matter, play a crucial role in the transformation of carbon, nitrogen, phosphorus, and other elements. They are often used as indicators to assess the extent of vegetation restoration in ecologically fragile areas. However, the impacts of vegetation restoration on soil microbial community structure in mining areas at the global scale remains largely unknown. Based on 310 paired observations from 44 papers, we employed the meta-analysis approach to examine the influence of vegetation restoration on soil microbial abundance and biomass in mining area. The results indicated that vegetation restoration significantly promotes soil microbial biomass in mining areas. In comparison to bare soil, vegetation restoration leads to a significant 95.1% increase in soil microbial biomass carbon and a 87.8% increase in soil microbial biomass nitrogen. The abundance of soil bacteria, fungi, and actinomycetes are significantly increased by 1005.4%, 472.4%, and 177.7%, respectively. Among various vegetation restoration types, the exclusive plan-ting of trees exhibits the most pronounced promotion effect on soil microbial biomass and population, which results in a significant increase of 540.3% in soil fungi and 104.5% in actinomycetes, along with a respective enhancement of 110.3% and 106.4% in microbial biomass carbon and nitrogen. Model selection results revealed that soil satura-ted water content and vegetation restoration history contribute most significantly to the abundance of soil bacteria and fungi. Soil available nitrogen has the most significant impact on the abundance of actinomycetes and microbial biomass carbon, while soil available phosphorus emerges as a crucial factor affecting microbial biomass nitrogen. This research could contribute to understanding the relationship between vegetation restoration and the structure of soil microbial communities in mining areas, and providing scientific support for determining appropriate vegetation restoration types in mining areas.

Synthesis and biological evaluation of novel 1,2,3,4-tetrahydro-ß-carboline derivatives as potential antibacterial agents.

The quest for novel antibacterial agents is imperative in the face of escalating antibiotic resistance. Naturally occurring tetrahydro-ß-carboline (THßC) alkaloids have been highlighted due to their significant biological derivatives. However, these structures have been little explored for antibacterial drugs development. In this study, a series of 1,2,3,4-THßC derivatives were synthesized and assessed for their antibacterial prowess against both gram-positive and gram-negative bacteria. The compounds exhibited moderate to good antibacterial activity, with some compounds showing superior efficacy against gram-positive bacteria, especially methicillin-resistant Staphylococcus aureus (MRSA), to that of Gentamicin. Among these analogs, compound 3k emerged as a hit compound, demonstrating rapid bactericidal action and a significant post-antibacterial effect, with significant cytotoxicity towards human LO2 and HepG2 cells. In addition, compound 3k (10 mg/kg) showed comparable anti-MRSA efficacy to Ciprofloxacin (2 mg/kg) in a mouse model of abdominal infection. Overall, the present findings suggested that THßC derivatives based on the title compounds hold promising applications in the development of antibacterial drugs.

Construction of a high-density genetic map and QTL localization of body weight and wool production related traits in Alpine Merino sheep based on WGR.

BACKGROUND: The Alpine Merino is a new breed of fine-wool sheep adapted to the cold and arid climate of the plateau in the world. It has been popularized in Northwest China due to its superior adaptability as well as excellent production performance. Those traits related to body weight, wool yield, and wool fiber characteristics, which are economically essential traits in Alpine Merino sheep, are controlled by QTL (Quantitative Trait Loci). Therefore, the identification of QTL and genetic markers for these key economic traits is a critical step in establishing a MAS (Marker-Assisted Selection) breeding program. RESULTS: In this study, we constructed the high-density genetic linkage map of Alpine Merino sheep by sequencing 110 F1 generation individuals using WGR (Whole Genome Resequencing) technology. 14,942 SNPs (Single Nucleotide Polymorphism) were identified and genotyped. The map spanned 2,697.86 cM, with an average genetic marker interval of 1.44 cM. A total of 1,871 high-quality SNP markers were distributed across 27 linkage groups, with an average of 69 markers per LG (Linkage Group). Among them, the smallest genetic distance is 19.62 cM for LG2, while the largest is 237.19 cM for LG19. The average genetic distance between markers in LGs ranged from 0.24 cM (LG2) to 3.57 cM (LG17). The marker density in the LGs ranged from LG14 (39 markers) to LG1 (150 markers). CONCLUSIONS: The first genetic map of Alpine Merino sheep we constructed included 14,942 SNPs, while 46 QTLs associated with body weight, wool yield and wool fiber traits were identified, laying the foundation for genetic studies and molecular marker-assisted breeding. Notably, there were QTL intervals for overlapping traits on LG4 and LG8, providing potential opportunities for multi-trait co-breeding and further theoretical support for selection and breeding of ultra-fine and meaty Alpine Merino sheep.

Key genes and metabolites that regulate wool fibre diameter identified by combined transcriptome and metabolome analysis.

BACKGROUND: Fibre diameter is an important economic trait of wool fibre. As the fibre diameter decreases, the economic value of wool increases. Therefore, understanding the mechanism of wool fibre diameter regulation is important in improving the value of wool. RESULTS: In this study, we used non-targeted metabolome and reference transcriptome data to detect differences in metabolites and genes in groups of Alpine Merino sheep with different wool fibre diameter gradients, and integrated metabolome and transcriptome data to identify key genes and metabolites that regulate wool fibre diameter. We found 464 differentially abundant metabolites (DAMs) and 901 differentially expressed genes (DEGs) in four comparisons of groups with different wool fibre diameters. Approximately 25% of the differentially abundant metabolites were lipid and lipid-like molecules. These molecules were predicted to be associated with skin development and keratin filament by gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional enrichment analyses. Key genes, including COL5A2, COL5A3, CREB3L4, COL1A1, and SFRP4, were identified by gene set enrichment analysis. CONCLUSIONS: Key genes regulating wool fibre diameter were identified, the effects of lipid molecules on wool performance were investigated, and potential synergies between genes and metabolites were postulated, providing a theoretical framework for fine wool sheep breeding.

A two-center randomized controlled trial of a repairing mask as an adjunctive treatment for mild to moderate rosacea.

OBJECTIVE: To investigate the efficacy and safety of a repairing mask as an adjunctive treatment for skin barrier maintenance of mild to moderate rosacea. METHODS: Patients with rosacea were recruited in this dual center randomized controlled trial from November 2019 to December 2021. A total of 64 patients were included and randomized into two groups at a ratio of 3:1 into a mask group (n = 47) and a control group (n = 17). Patients in the mask group received treatment with Dr. Yu Centella asiatica repairing facial mask three times weekly for a duration of 6 weeks. All participants were instructed to continue their regimen of 50 mg oral minocycline twice daily and to apply Dr. Yu Intensive Hydrating Soft Cream twice daily. The primary endpoint of this study was the Investigator Global Assessment (IGA) score. RESULTS: A total of 54 patients completed this trial, with 41 in the mask group and 13 in the control group. After using this facial mask for 3 and 6 weeks, the IGA, facial skin dryness, facial flushing, and severity of skin lesion in the mask group showed significantly improvement (p < 0.05). Moreover, the change in the delta degree of skin flushing was significantly higher than that in the control group (p = 0.037). Throughout the study, no adverse events were reported in either group of participants. CONCLUSION: The Dr. Yu Centella asiatica repairing facial mask, as an adjunctive treatment of rosacea, appears to effectively repair and protect the skin barrier, alleviate cutaneous symptoms of rosacea, and is both efficacious and safe for patient use.

Advances in systemic immune inflammatory indices in non-small cell lung cancer: A review.

Lung cancer is one of the most prevalent cancers globally, with non-small cell lung cancers constituting the majority. These cancers have a high incidence and mortality rate. In recent years, a growing body of research has demonstrated the intricate link between inflammation and cancer, highlighting that inflammation and cancer are inextricably linked and that inflammation plays a pivotal role in cancer development, progression, and prognosis of cancer. The Systemic Immunoinflammatory Index (SII), comprising neutrophil, lymphocyte, and platelet counts, is a more comprehensive indicator of the host's systemic inflammation and immune status than a single inflammatory index. It is widely used in clinical practice due to its cost-effectiveness, simplicity, noninvasiveness, and ease of acquisition. This paper reviews the impact of SII on the development, progression, and prognosis of non-small cell lung cancer.

Gibberellic acid targeting ZBTB16 reduces NF-κB dependent inflammatory stress in sepsis-induced neuroinflammation.

OBJECTIVE: Sepsis is frequently complicated by neuroinflammation. Gibberellic acid (GA3) is recognized for its anti-inflammatory properties. In this study, our objective was to investigate whether GA3 could alleviate Nuclear factor-kappa B (NF-κB) -dependent inflammatory stress in sepsis-induced neuroinflammation. METHODS: C57BL/6 J mice were administered 10 mg/kg lipopolysaccharide (LPS) to induce sepsis. BV2 cells were pre-incubated with GA3 and subjected lipopolysaccharide stimulation to replicate the inflammatory microglia during sepsis. Subsequently, we assessed the release of IL-6, TNF-α, and IL-1ß, along with the expression of Zbtb16, NF-κB, and IκB. To investigate whether any observed anti-inflammatory effects of GA3 were mediated through a Zbtb16-dependent mechanism, Zbtb16 was silenced using siRNA. RESULTS: GA3 improved the survival of sepsis mice and alleviated post-sepsis cognitive impairment. Additionally, GA3 attenuated microglial M1 activation (pro-inflammatory phenotype), inflammation, and neuronal damage in the brain. Moreover, GA3 inhibited the release of TNF-α, IL-6, and IL-1ß in microglia stimulated with LPS. The NF-κB signaling pathway emerged as one of the key molecular pathways associated with the impact of GA3 on LPS-stimulated microglia. Lastly, GA3 upregulated Zbtb16 expression in microglia that had been downregulated by LPS. The inhibitory effects of GA3 on microglial M1 activation were partially reversed through siRNA knockdown of Zbtb16. CONCLUSIONS: Pre-incubation of microglia with GA3 led to the upregulation of the NF-κB regulator, Zbtb16. This process counteracted LPS-induced microglial M1 activation, resulting in an anti-inflammatory effect upon subsequent LPS stimulation.

Coagulation promotes the spread of antibiotic resistance genes in secondary effluents.

Wastewater treatment plants (WWTPs) are biological hotspots receiving the residual antibiotics and antibiotic resistant bacteria/genes (ARB/ARGs) that greatly influence the spread of antibiotic resistance in the environment. A common method used in WWTPs for the purification of secondary effluent is coagulation. Notwithstanding the increasing health concern of antibiotic resistance in WWTPs, the impact of coagulation on the emergence and spread of antibiotic resistance remains unclear. To shed light on this, our study investigated the behavior of four representative ARB types (tetracycline, sulfamethoxazole, clindamycin, and ciprofloxacin resistance) during the coagulation process in a model wastewater treatment plant. Our search showed a significant reduction in the presence of ARBs after either PAC or FeCl3 coagulation, with removal efficiencies of 95% and 90%, respectively. However, after 4 days of storage, ARB levels in the coagulated effluent increased by 6-138 times higher than the original secondary effluent. It suggests a potential resurgence and spread of antibiotic resistance after coagulation. Detailed studies suggest that coagulants, particularly PAC, may facilitate the transfer of ARGs among different bacterial species by the enhanced cell-cell contact during coagulation-induced bacterial aggregation. This transfer is further enhanced by the factors such as auxiliary mixing, longer incubation time and ideal operating temperatures. In addition, both PAC and FeCl3 affected gene expression associated with bacterial conjugation, leading to an increase in conjugation efficiency. In conclusion, while coagulation serves as a purification method, it might inadvertently boost the spread of ARGs during tertiary wastewater treatment. This underscores the importance of implementing subsequent measures to mitigate this effect. Our findings provide a deeper understanding of the challenges posed by bacterial antibiotic resistance in wastewater and pave the way for devising more effective ARB and ARG management strategies.

A novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta.

OBJECTIVES: To identify the genetic cause of a Chinese family with hypomaturation amelogenesis imperfecta (AI) and to characterize the structure of GPR68 mutated enamel in order to develop a deeper understanding of the role of the GPR68 protein during the intricate process of amelogenesis. DESIGN: One Chinese family with generalized hypomaturation AI was recruited. Two of the third molars from the proband were subjected to scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy (EDX). Whole exome sequencing (WES) was performed, and the identified mutation was confirmed by Sanger sequencing. Bioinformatics studies were further conducted to analyze the potential deleterious effects of the mutation. RESULTS: The proband presented with a hypomaturation AI phenotype, characterized by fragile and discolored enamel surface. The AI enamel showed prismatic structure, which was sporadically obscured by areas of amorphous material and porous structure. EDX analysis showed the proband's enamel demonstrated a significant decrease in calcium and phosphorus content and a significant increase in oxygen compared with normal enamel. A novel homozygous mutation of G protein-coupled receptor 68 (GPR68) (c .149 T > A, p.Ile50Asn) was identified in the proband. Bioinformatics analysis indicated that the mutation site displayed a high level of evolutionary conservation among species, and the mutation might impact the stability and conformation of the protein. CONCLUSION: The novel homozygous GPR68 mutation resulted in hypomaturation AI. We first described the effect of GPR68 mutation on enamel structure. Our results provide new genetic evidence that mutations involved in GPR68 contribute to hypomaturation AI.

Polydimethylsiloxane (PDMS)-assisted non-destructive transient thermoreflectance characterizations.

The conventional pump-probe thermoreflectance (pump-probe TR) techniques are routinely performed on a thin (typically <100 nm) metal transducer deposited on samples, ensuring the most fundamental principle of thermoreflectance: the reflectance change (∆R/R) of the sample surface is directly and linearly related to the temperature change (∆T) within a finite temperature range. However, general metal coating methods may damage the sample by forming a mixed layer with the sample. In this article, we present a non-destructive pump-probe transient thermoreflectance (TTR) characterization using the polydimethylsiloxane (PDMS)-assisted metal transfer technique. Our method utilizes PDMS dry transfer to transfer common transducer metals (Au and Al) to the target substrate. This method effectively avoids impurities and damage to the sample. In particular, we have utilized Au as a transition layer to study the application of Al transfer in TTR measurements. The substrate thermal conductivity measurement results show that they can all be used for TTR measurement, and the thermal boundary conductance results show that the transferred metals have low bonding to the substrate. In addition, Al/Au can be transferred over a large area at room temperature compared to Au. After measurement, the samples can be restored to their original state by a simple cleaning method. This method provides a simple and reliable way to characterize samples without metal coating for TTR.

Assessing brain microstructural changes in chronic kidney disease: a diffusion imaging study using multiple models.

Objectives: To explore the effectiveness of diffusion quantitative parameters derived from advanced diffusion models in detecting brain microstructural changes in patients with chronic kidney disease (CKD). Methods: The study comprised 44 CKD patients (eGFR<59 mL/min/1.73 m2) and 35 age-and sex-matched healthy controls. All patients underwent diffusion spectrum imaging (DSI) and conventional magnetic resonance imaging. Reconstructed to obtain diffusion MRI models, including diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging (NODDI) and Mean Apparent Propagator (MAP)-MRI, were processed to obtain multi-parameter maps. The Tract-Based Spatial Statistics (TBSS) analysis was utilized for detecting microstructural differences and Pearson correlation analysis assessed the relationship between renal metabolism markers and diffusion parameters in the brain regions of CKD patients. Receiver operating characteristic (ROC) curve analysis assessed the diagnostic performance of diffusion models, with AUC comparisons made using DeLong's method. Results: Significant differences were noted in DTI, NODDI, and MAP-MRI parameters between CKD patients and controls (p < 0.05). DTI indicated a decrease in Fractional Anisotropy(FA) and an increase in Mean and Radial Diffusivity (MD and RD) in CKD patients. NODDI indicated decreased Intracellular and increased Extracellular Volume Fractions (ICVF and ECVF). MAP-MRI identified extensive microstructural changes, with elevated Mean Squared Displacement (MSD) and Q-space Inverse Variance (QIV) values, and reduced Non-Gaussianity (NG), Axial Non-Gaussianity (NGAx), Radial Non-Gaussianity (NGRad), Return-to-Origin Probability (RTOP), Return-to-Axis Probability (RTAP), and Return-to-Plane Probability (RTPP). There was a moderate correlation between serum uric acid (SUA) and diffusion parameters in six brain regions (p < 0.05). ROC analysis showed the AUC values of DTI_FA ranged from 0.70 to 0.793. MAP_NGAx in the Retrolenticular part of the internal capsule R reported a high AUC value of 0.843 (p < 0.05), which was not significantly different from other diffusion parameters (p > 0.05). Conclusion: The advanced diffusion models (DTI, NODDI, and MAP-MRI) are promising for detecting brain microstructural changes in CKD patients, offering significant insights into CKD-affected brain areas.