Assessment and factors affecting quality of life among patients with Wilson's disease.

Wilson's disease is caused by abnormal copper metabolism resulting in deposition in various organs, including the brain, liver, and cornea, thus disrupting organ function. It is characterized by encephalopathy, extrapyramidal symptoms, progressive liver failure, and copper ring deposition in the cornea. Management of this disease should include quality of life maintenance; however, relevant studies on this topic are lacking. This study aimed to assess the factors affecting the quality of life (QoL) of patients with Wilson's disease. A cross-sectional survey using convenience sampling was conducted between July 2020 and March 2021 at the hospital. Data on patient characteristics, 36-item Short-Form General Health Survey, Uniform Wilson Disease Rating Scale, and Hamilton Depression Rating Scale scores were collected. Associations among quality of life depression, anxiety, and Wilson's disease progression were examined using Pearson correlation analysis. Factors affecting the quality of life of patients, including depression, anxiety, liver function, clinical symptoms, diet, liver function, brain magnetic resonance imaging (MRI) findings, disease duration, Barthel Index, and Morse scores were examined using multivariate linear regression analysis. This study included 134 patients with Wilson's disease whose mean age was 29.12 ± 8.59 years. The mean QoL score in the patient group was 71.38 ± 9.55 points and was negatively correlated with anxiety (r = - 0.883, P = 0.000), depression (r = - 0.852 P = 0.000), and clinical symptoms (r = - 0.542, P = 0.000) scores. Anxiety, depression, and clinical symptoms severity are vital factors for the QoL of patients with Wilson's disease. The study provides foundational evidence to design novel interventions, including symptom management, diet, and self-care ability, which can help in improving the quality of life in patients with Wilson's disease and decreasing the burden associated with this disease.

Quantitative trait loci detection for three tiller-related traits and the effects on wheat (Triticum aestivum L.) yields.

KEY MESSAGE: A total of 38 putative additive QTLs and 55 pairwise putative epistatic QTLs for tiller-related traits were reported, and the candidate genes underlying qMtn-KJ-5D, a novel major and stable QTL for maximum tiller number, were characterized. Tiller-related traits play an important role in determining the yield potential of wheat. Therefore, it is important to elucidate the genetic basis for tiller number when attempting to use genetic improvement as a tool for enhancing wheat yields. In this study, a quantitative trait locus (QTL) analysis of three tiller-related traits was performed on the recombinant inbred lines (RILs) of a mapping population, referred to as KJ-RILs, that was derived from a cross between the Kenong 9204 (KN9204) and Jing 411 (J411) lines. A total of 38 putative additive QTLs and 55 pairwise putative epistatic QTLs for spike number per plant (SNPP), maximum tiller number (MTN), and ear-bearing tiller rate (EBTR) were detected in eight different environments. Among these QTLs with additive effects, three major and stable QTLs were first documented herein. Almost all but two pairwise epistatic QTLs showed minor interaction effects accounting for no more than 3.0% of the phenotypic variance. The genetic effects of two colocated major and stable QTLs, i.e., qSnpp-KJ-5D.1 and qMtn-KJ-5D, for yield-related traits were characterized. The breeding selection effect of the beneficial allele for the two QTLs was characterized, and its genetic effects on yield-related traits were evaluated. The candidate genes underlying qMtn-KJ-5D were predicted based on multi-omics data, and TraesKN5D01HG00080 was identified as a likely candidate gene. Overall, our results will help elucidate the genetic architecture of tiller-related traits and can be used to develop novel wheat varieties with high yields.

Characterization and fine mapping analysis of a major stable QTL qKnps-4A for kernel number per spike in wheat.

KEY MESSAGE: A major stable QTL for kernel number per spike was narrowed down to a 2.19-Mb region containing two potential candidate genes, and its effects on yield-related traits were characterized. Kernel number per spike (KNPS) in wheat is a key yield component. Dissection and characterization of major stable quantitative trait loci (QTLs) for KNPS would be of considerable value for the genetic improvement of yield potential using molecular breeding technology. We had previously reported a major stable QTL controlling KNPS, qKnps-4A. In the current study, primary fine-mapping analysis, based on the primary mapping population, located qKnps-4A to an interval of approximately 6.8-Mb from 649.0 to 655.8 Mb on chromosome 4A refering to 'Kenong 9204' genome. Further fine-mapping analysis based on a secondary mapping population narrowed qKnps-4A to an approximately 2.19-Mb interval from 653.72 to 655.91 Mb. Transcriptome sequencing, gene function annotation analysis and homologous gene related reports showed that TraesKN4A01HG38570 and TraesKN4A01HG38590 were most likely to be candidate genes of qKnps-4A. Phenotypic analysis based on paired near-isogenic lines in the target region showed that qKnps-4A increased KNPS mainly by increasing the number of central florets per spike. We also evaluated the effects of qKnps-4A on other yield-related traits. Moreover, we dissected the QTL cluster of qKnps-4A and qTkw-4A and proved that the phenotypic effects were probably due to close linkage of two or more genes rather than pleiotropic effects of a single gene. This study provides molecular marker resource for wheat molecular breeding designed to improve yield potential, and lay the foundation for gene functional analysis of qKnps-4A.

The Impact of Visceral Adiposity on Testosterone Levels in American Adult Men: A Cross-Sectional Analysis.

BACKGROUND Testosterone decline and deficiency importantly affect men's health, and may be associated with excessive deposition of visceral adipose tissue. This study was conducted to explore the association between visceral adiposity index (VAI) and testosterone level. MATERIAL AND METHODS A total of 1551 participants from the NHANES 2013-2013 cycle and 2015-2016 cycle were selected for our analyses. The VAI index was calculated based on waist circumference (WC), body mass index (BMI), triglyceride (TG), and high-density lipoprotein cholesterol (HDL-c), and serum testosterone was measured by isotope dilution liquid chromatography tandem mass spectrometry. Multivariable adjusted linear and logistic regression were utilized to investigate the associations between VAI index and testosterone level and testosterone deficiency, respectively. Additionally, subgroup analyses were performed to identify sensitive populations. RESULTS A total of 1551 participants with mean VAI index of 1.95±0.08 were eligible for our analysis. After adjusting for all potential cofounders, men with higher VAI index displayed a lower level of total testosterone level (ß: -11.74, 95% CI: -17.33, -6.15, P<0.0001), and higher risk of testosterone deficiency (OR: 1.24, 95% CI: 1.09, 1.40, P=0.0022). Comparing to VAI quartile 1, quartile 4 showed the most decreased testosterone level (ß: -94.59, 95% CI: -130.04, -59.14, P<0.0001), and highest risk of testosterone deficiency (OR: 5.07, 95% CI: 2.41,10.63, P<0.0001). Subgroup analysis demonstrated that VAI index was strongly related to testosterone level and testosterone deficiency in aged and obese men. CONCLUSIONS Men with higher VAI index displayed lower testosterone levels and higher risk of testosterone deficiency, especially in aged men and obese men.

Intervention and application of clown care in nursing homes: a scoping review.

BACKGROUND: The purpose of this scoping review was to organize and describe the literature on the application of clown care to the elderly population in nursing homes, including intervention time, intervention methods and intervention effects, so as to provide reference ideas for other scholars to explore clown care programs suitable for the elderly population in nursing homes. METHODS: Employing Arksey and O'Malley's methodology, we searched for PubMed, Web of Science, Embase, Cochrane, CNKI, WanFang, VIP, and CBM systematically and thoroughly, and the search period was from the establishment of each database to December 12, 2022. Two researchers with evidence-based learning experience independently conducted literature retrieval, information extraction, and cross-checking in strict accordance with the inclusion and exclusion criteria. The review process is reported according to PRISMA. RESULTS: 148 literature were initially obtained after searching, of which 18 were finally included. Among them, 17 were in English and 1 was in Chinese. There are 16 quantitative studies and 2 qualitative studies published from 2010 to 2022. It is found that the current clown care intervention program has not established a unified intervention standard and effective evaluation program. CONCLUSIONS: The results of this scoping review conclude that clown care played a significant role in the nursing home. At first, it can reduce negative emotions, cognitive impairments and physical pain among older adults. In addition, it can improve their quality of life, life satisfaction, etc. It is suggested to learn from the advanced experience of clown care in foreign countries and carry out more clown care among the elderly population in nursing homes in China.

Inter-Patient Classification With Encoded Peripheral Pulse Series and Multi-Task Fusion CNN: Application in Type 2 Diabetes.

Diabetes mellitus, a chronic disease associated with elevated accumulation of glucose in the blood, is generally diagnosed through an invasive blood test such as oral glucose tolerance test (OGTT). An effective method is proposed to test type 2 diabetes using peripheral pulse waves, which can be measured fast, simply and inexpensively by a force sensor on the wrist over the radial artery. A self-designed pulse waves collection platform includes a wristband, force sensor, cuff, air tubes, and processing module. A dataset was acquired clinically for more than one year by practitioners. A group of 127 healthy candidates and 85 patients with type 2 diabetes, all between the ages of 45 and 70, underwent assessments in both OGTT and pulse data collection at wrist arteries. After preprocessing, pulse series were encoded as images using the Gramian angular field (GAF), Markov transition field (MTF), and recurrence plots (RPs). A four-layer multi-task fusion convolutional neural network (CNN) was developed for feature recognition, the network was well-trained within 30 minutes based on our server. Compared to single-task CNN, multi-task fusion CNN was proved better in classification accuracy for nine of twelve settings with empirically selected parameters. The results show that the best accuracy reached 90.6% using an RP with threshold ϵ of 6000, which is competitive to that using state-of-the-art algorithms in diabetes classification.

Effects of traditional Chinese exercises on blood glucose and hemoglobin A1c levels in patients with prediabetes: A systematic review and meta-analysis.

BACKGROUND: Traditional Chinese exercises (TCEs) have a positive effect on glycemic control and hemoglobin A1c (HbA1c), but there is no consensus on the benefits of TCEs for patients with prediabetes. OBJECTIVE: The objective of this study was to systematically investigate the effects of TCEs on blood glucose control in patients with prediabetes. SEARCH STRATEGY: Comprehensive retrieval of randomized controlled trials (RCTs) was carried out using PubMed, Cochrane Library, Embase, China National Knowledge Infrastructure, VIP Database for Chinese Technical Periodicals, Wanfang Data Knowledge Service Platform, China Biology Medicine disc, Google Scholar and Baidu academic databases. The retrieval window ranged from the establishment of the database to December 2018, and references related to the included trials were searched without language restrictions. INCLUSION CRITERIA: The study included RCTs with a clinical diagnosis of prediabetes that was also treated with TCEs. DATA EXTRACTION AND ANALYSIS: Literature screening, data extraction and literature quality assessment were performed independently by two researchers. In the case of disagreement, a third party was invited to negotiate and make a decision. Standardized mean difference (SMD) was used to estimate the therapeutic effect. Meta-analysis was performed using Review Manager 5.3.5 and Stata 15.0. Heterogeneity was assessed using Q test and I2, and the source of heterogeneity was determined using Galbraith diagram and sensitivity analysis. A Q test resulting in P < 0.1 and I2 > 50% indicated significant difference and random effect model analysis was performed. Otherwise, a fixed effect model was applied. Begg's and Egger's tests were used to assess publication bias. RESULTS: Nine RCTs involving 485 participants were included in this study. The results showed that TCEs could reduce fasting blood glucose (FBG), 2 h blood glucose (2hPBG) and HbA1c in patients with prediabetes. The treatment subgroup showed that an intervention of 6 months had better results, while the Gongfa subgroup showed that the TCE Baduanjin yielded better results. (1) FBG: SMD = -0.73, 95% confidence interval (CI) [-0.97, -0.50], P < 0.00001; Baduanjin: SMD = -0.83, 95% CI [-1.13, -0.53], P < 0.00001; 6 month treatment: SMD = -0.73, 95% CI [-1.20, -0.26], P = 0.002. (2) 2hPBG: SMD = -0.75, 95% CI [-0.94, -0.57], P < 0.00001; Baduanjin: SMD = -0.62, 95% CI [-0.91, -0.32], P < 0.00001; 6 month treatment: SMD = -0.91, 95% CI [-1.39, -0.44], P = 0.0002. (3) HbA1c: SMD = -0.56, 95% CI [-0.89, -0.23], P = 0.00008; Baduanjin: SMD = -0.46, 95% CI [-0.83, -0.08], P = 0.02; 6 month treatment: SMD = -0.77, 95% CI [-1.24, -0.29], P = 0.002. CONCLUSION: TCEs had positive effects in improving blood glucose levels in patients with prediabetes. Hence, TCEs may be of potential therapeutic value for patients with prediabetes, as an adjuvant therapy along with other treatments. Although the evidence suggests that the intervention is effective for 6 months, the mechanism of TCEs on glycemic control, the minimum exercise dose and their safety remain to be further studied.

An integrated model to evaluate the impact of social support on improving self-management of type 2 diabetes mellitus.

BACKGROUND: Type 2 Diabetes Mellitus (T2DM) is a chronic disease closely related to personal life style. Therefore, achieving effective self-management is one of the most important ways to control it. There is evidence that social support can help to improve the self-management ability of patients with T2DM, but which social support is more effective has been rarely explored. The purpose of this study is to construct an integrated model to analyze which social support has more significant impact on self-management of T2DM, and provide reasonable suggestions to health care providers on how to effectively play the role of social support. METHODS: We established a social support indicator evaluation system and proposed an integrated model that combines ANP (Analytical Network Process) and CRITIC (CRiteria Importance through Intercriteria Correlation) methods to evaluate the impact of social support on T2DM self-management from both subjective and objective perspectives. The weights calculated by the model will serve as the basis for us to judge the importance of different social support indicators. RESULTS: Informational support (weighting 49.26%) is the most important criteria, followed by tangible support (weighting 39.24%) and emotional support (weighting 11.51%). Among 11 sub-criteria, guidance (weighting 23.05%) and feedback (weighting 14.68%) are two most relevant with T2DM self-management. This result provides ideas and evidence for health care providers on how to offer more effective social support. CONCLUSION: To our knowledge, this is the first study in which Multi-Criteria Decision Making (MCDM) tools, specifically ANP and CRITIC, are used to evaluate the impact of social support on improving self-management of type 2 diabetes. The study suggests that incorporating two sub-indicators of guidance and feedback into the diabetes care programs may have great potential to improve T2DM self-management and further control patient blood glucose and reduce complications.

ACBD3 is required for FAPP2 transferring glucosylceramide through maintaining the Golgi integrity.

Glycosphingolipid (GSL) metabolism is involved in various physiological processes, including all major cell signaling pathways, and its dysregulation is linked to some diseases. The four-phosphate adaptor protein FAPP2-mediated glucosylceramide (GlcCer) transport for complex GSL synthesis has been studied extensively. However, the molecular machinery of FAPP2 as a GlcCer-transferring protein remains poorly defined. Here, we identify a Golgi-resident protein, acyl-coenzyme A binding domain containing 3 (ACBD3), as an interacting partner of FAPP2. We find that ACBD3 knockdown leads to dramatic Golgi fragmentation, which subsequently causes FAPP2 dispersal throughout the cytoplasm and a decreased localization at trans-Golgi network. The further quantitative lipidomic analysis indicates that ACBD3 knockdown triggers abnormal sphingolipid metabolism. Interestingly, the expression of siRNA-resistant full-length ACBD3 can rescue these defects caused by ACBD3 knockdown. These data reveal critical roles for ACBD3 in maintaining the integrity of Golgi morphology and cellular sphingolipid homeostasis and establish the importance of the integrated Golgi complex for the transfer of GlcCer and complex GSL synthesis.

Genome-Wide Analysis and Expression Profiles of the MYB Genes in Brachypodium distachyon.

MYB transcription factors are widespread in plants and play key roles in plant development. Although MYB transcription factors have been thoroughly characterized in many plants, genome-wide analysis of the MYB gene family has not yet been undertaken in Brachypodium distachyon. In this study, 122 BdMYB transcription factors were identified, comprising 85 MYB-R2R3, 34 MYB-related and three MYB-R1R2R3. Phylogenetic analysis showed that BdMYBs, OsMYBs and AtMYBs with similar functions were clustered in the same subgroup, and the phylogenetic relationships of BdMYB transcription factors were supported by highly conserved motifs and gene structures. Two cis-elements were found in the promoters of BdMYB genes. One is related to plant growth/development, the other is related to stress responses. Gene Ontology (GO) analysis indicated that most of the BdMYB genes are involved in various biological processes. The chromosome distribution pattern strongly indicated that genome-wide tandem and segment duplication mainly contributed to the expansion of the BdMYB gene family. Synteny analysis showed that 56, 58 and 61 BdMYB genes were orthologous to rice, maize and sorghum, respectively. We further demonstrated that BdMYB genes have evolved under strong purifying selection. The expression profiles indicated that most BdMYB genes might participate in floral development and respond to abiotic stresses. Additionally, 338 pairs of proteins were predicted to interact by constructing the interaction network. This work laid the foundation and provided clues for understanding the biological functions of these transcription factors.

Genome-wide analysis of basic helix-loop-helix (bHLH) transcription factors in Brachypodium distachyon.

BACKGROUND: As a superfamily of transcription factors (TFs), the basic helix-loop-helix (bHLH) proteins have been characterized functionally in many plants with a vital role in the regulation of diverse biological processes including growth, development, response to various stresses, and so on. However, no systemic analysis of the bHLH TFs has been reported in Brachypodium distachyon, an emerging model plant in Poaceae. RESULTS: A total of 146 bHLH TFs were identified in the Brachypodium distachyon genome and classified into 24 subfamilies. BdbHLHs in the same subfamily share similar protein motifs and gene structures. Gene duplication events showed a close relationship to rice, maize and sorghum, and segment duplications might play a key role in the expansion of this gene family. The amino acid sequence of the bHLH domains were quite conservative, especially Leu-27 and Leu-54. Based on the predicted binding activities, the BdbHLHs were divided into DNA binding and non-DNA binding types. According to the gene ontology (GO) analysis, BdbHLHs were speculated to function in homodimer or heterodimer manner. By integrating the available high throughput data in public database and results of quantitative RT-PCR, we found the expression profiles of BdbHLHs were different, implying their differentiated functions. CONCLUSION: One hundred fourty-six BdbHLHs were identified and their conserved domains, sequence features, phylogenetic relationship, chromosomal distribution, GO annotations, gene structures, gene duplication and expression profiles were investigated. Our findings lay a foundation for further evolutionary and functional elucidation of BdbHLH genes.