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Approximately 30%-40% of rare diseases are related to the endocrine and metabolic system, and abnormal metabolism of carbohydrate accounts for a significant proportion among others. Carbohydrate metabolic rare disorders often develop insidiously. The clinical symptoms of these disorders sometimes overlap with common diseases. Therefore, delayed diagnosis, misdiagnosis, and mismanagement happen often. The diagnosis and treatment of carbohydrate metabolic rare disorders is usually difficult in clinical practice. Efficient and practical screening models, identification of specific clinical features and biochemical changes, and genomic sequencing are critical to improve diagnostic efficiency. Most carbohydrate metabolic rare disorders are still lack in effective and targeted therapies. So, the symptomatic treatment is still main practice. The targeted medications and gene therapies based on precision diagnosis are directions for the diagnosis and management of rare disorders of carbohydrate metabolism in the future. In this paper, we classify the carbohydrate metabolic rare disorders based on their causes. We also discuss the current status and prospective of diagnosis and management of those diseases.

The translocon-associated protein-δ (TRAPδ) plays a role in insulin biosynthesis within pancreatic β-cells. However, its pathophysiological significance in maintaining islet β-cell function and glucose homeostasis remains unclear. In this study, we generated a mouse model featuring pancreatic β-cell–specific deletion of TRAPδ (TRAPδ βKO). Our findings revealed that TRAPδ βKO resulted in decreased circulating insulin levels in mice fed either a normal chow diet or a high-fat diet. Multiple independent experiments established that although TRAPδ deletion reduced insulin content in the islets, it had no discernible effect on insulin gene expression, the insulin to proinsulin ratio, or the expression and glycosylation of the prohormone enzymes involved in proinsulin processing. These data suggest that TRAPδ does not play a pivotal role in the transcription of the insulin gene or proinsulin processing. However, untranslocated preproinsulin levels were significantly increased when islets were treated with a proteasomal inhibitor, suggesting that TRAPδ deficiency may hinder preproinsulin translocation, resulting in a rapid degradation of untranslocated preproinsulin that accounts for the decreased insulin production. Remarkably, despite the moderate decrease in circulating insulin levels in TRAPδ βKO mice, their glucose levels remained unaffected, indicating the presence of compensatory mechanisms that help maintain glucose homeostasis. Insulin tolerance tests further revealed improved insulin sensitivity, accompanied by upregulation of phosphorylated AKT in the peripheral tissues of TRAPδ βKO mice. Collectively, these data highlight the important role of TRAPδ in insulin biosynthesis and β-cell function. The moderate reduction in circulating insulin appears to promote insulin sensitivity in insulin target tissues. Article Highlights: Translocon-associated protein-δ (TRAPδ) plays a pivotal role in insulin biosynthesis and potentially contributes to β-cell survival in type 2 diabetes mellitus. Nevertheless, its specific function in preserving islet β-cell function in vivo has yet to be fully explored and elucidated. Specific knockout of TRAPδ in pancreatic β-cells leads to a decrease in proinsulin and insulin content within the islets, subsequently resulting in a slight reduction of serum insulin levels. Remarkably, despite this insulin decrease, euglycemia is preserved. The moderate decrease in circulating insulin levels may potentially enhance insulin sensitivity in target tissues. [ABSTRACT FROM AUTHOR]

BACKGROUND: Pectin extracted by high‐speed shearing from passion fruit peel (HSSP) is a potentially excellent wall material for encapsulating curcumin, which has multiple advantages over pectin prepared by heated water extraction. HSSP was used to fabricate complex nanoparticles of zein–sodium caseinate–pectin for encapsulation of curcumin in this study. The influence of heating on the physicochemical properties of the composite nanoparticles was also investigated, as well as the effect of composite nanoparticles on the encapsulation efficiency, antioxidant activity and release characteristics of curcumin. RESULTS: The nanoparticles were formed through electrostatic interactions, hydrogen bonds and hydrophobic interactions between the proteins and HSSP. A temperature of 50 °C was more favorable for generating compact and small‐sized nanoparticles, which could effectively improve the encapsulation efficiency and functional properties. Moreover, compared to other pectin used in the study, the nanoparticles prepared with HSSP showed the best functionality with a particle size of 234.28 ± 0.85 nm, encapsulation rate of 90.22 ± 0.54%, free radical scavenging rate of 78.97% and strongest protective capacity in simulated gastric fluid and intestinal release effect. CONCLUSION: Zein–sodium caseinate–HSSP is effective for encapsulating and delivering hydrophobic bioactive substances such as curcumin, which has potential applications in the functional food and pharmaceutical industries. © 2024 Society of Chemical Industry. [ABSTRACT FROM AUTHOR]

Simple Summary: The cassava mealybug (Phenacoccus manihoti) represents a significant quarantine pest affecting cassavas. This study seeks to elucidate the patterns of the suitable habitat and distribution centers of cassava mealybugs in China, as well as their dynamic ecological niche in invaded areas under the influence of climate change. Climate factors have primarily concentrated suitable habitats for cassava mealybugs in the southern regions of China, with minimal observed changes and a slight northward expansion. The dynamic ecological niche is also projected to expand slightly. Based on these predictions, relevant quarantine agencies can implement measures to prevent the introduction and spread of cassava mealybugs. The changing global climate has significantly impacted the spread of plant pests. The cassava mealybug (Phenacoccus manihoti) is among the most dangerous quarantine pests affecting cassavas worldwide, causing substantial losses in agricultural production and food security across several regions. Although China is currently free of the cassava mealybug, its proximity to affected countries and extensive trade with these regions necessitate a detailed understanding of the pest's distribution pattern and dynamic ecological niche changes. Using the Biomod2 model, we selected two historical climate scenarios and two future climate scenarios (SSP1-2.6 and SSP5-8.5) to investigate the distribution patterns, potential habitats, distribution centers, and dynamic ecological niches of cassava mealybugs in China. Key environmental variables influencing the distribution were identified, including bio4, bio8, bio12, bio18, and bio19. The potential habitat of cassava mealybugs is mainly located in several provinces in southern China. In the future, the suitable habitat is projected to expand slightly under the influence of climate change, maintaining the overall trend, but the distribution center of suitable areas will shift northward. Dynamic ecological niche prediction results indicate the potential for further expansion; however, the ecological niches may be unequal and dissimilar in the invaded areas. The predictions could serve as a valuable reference for early warning systems and management strategies to control the introduction of cassava mealybugs. [ABSTRACT FROM AUTHOR]

The White Paper on Peak Carbon and Carbon Neutral Action 2022 states that China is to achieve peak carbon by 2030 and carbon neutrality by 2060. Based on the "3060 dual-carbon" goal, how to improve the efficiency of energy performance is an important prerequisite for building a low-carbon, energy-saving, green, and beautiful China. The office performance building studied in this paper is located in the urban area of Turpan, where the climate is characterized by an extremely hot summer environment and a cold winter environment. At the same time, the building is oriented east–west, with the main façade facing west, and the main façade consists of a large area of single-layer glass curtain wall, which is affected by western sunlight. As a result, there are serious problems with the building's energy consumption, which in turn leads to excessive carbon emissions and high life cycle costs for the building. To address the above problems, this paper analyzes and optimizes the following four dimensions. First, the article creates a Convolutional Neural Network (CNN) prediction model with Total Energy Use in Buildings (TEUI), Global Warming Potential (GWP), and Life Cycle Costs (LCC) as the performance objectives. After optimization, the R2 of the three are 0.9908, 0.9869, and 0.9969, respectively, thus solving the problem of low accuracy of traditional prediction models. Next, the NSGA-II algorithm is used to optimize the three performance objectives, which are reduced by 41.94%, 40.61%, and 31.29%, respectively. Then, in the program decision stage, this paper uses two empowered Topsis methods to optimize this building performance problem. Finally, the article analyzes the variables using two sensitivity analysis methods. Through the above research, this paper provides a framework of optimization ideas for office buildings in extremely hot and cold regions while focusing on the four major aspects of machine learning, multi-objective optimization, decision analysis, and sensitivity analysis systematically and completely. For the development of office buildings in the region, whether in the early program design or in the later stages, energy-saving measures to optimize the design have laid the foundation of important guidelines. [ABSTRACT FROM AUTHOR]

Rosa roxburghii Tratt pomace is rich in insoluble dietary fiber (IDF). This study aimed to investigate the influence of three modification methods on Rosa roxburghii Tratt pomace insoluble dietary fiber (RIDF). The three modified RIDFs, named U-RIDF, C-RIDF, and UC-RIDF, were prepared using ultrasound, cellulase, and a combination of ultrasound and cellulase methods, respectively. The structure, physicochemical characteristics, and functional properties of the raw RIDF and modified RIDF were comparatively analyzed. The results showed that all three modification methods, especially the ultrasound–cellulase combination treatment, increased the soluble dietary fiber (SDF) content of RIDF, while also causing a transition in surface morphology from smooth and dense to wrinkled and loose structures. Compared with the raw RIDF, the modified RIDF, particularly UC-RIDF, displayed significantly improved water-holding capacity (WHC), oil-binding capacity (OHC), and swelling capacity (SC), with increases of 12.0%, 84.7%, and 91.3%, respectively. Additionally, UC-RIDF demonstrated the highest nitrite ion adsorption capacity (NIAC), cholesterol adsorption capacity (CAC), and bile salt adsorption capacity (BSAC). In summary, the combination of ultrasound and cellulase treatment proved to be an efficient approach for modifying IDF from RRTP, with the potential for developing a functional food ingredient. [ABSTRACT FROM AUTHOR]

Objectives: Previous observational studies have indicated correlations between various inflammatory cytokines and functional outcomes following ischemic stroke (IS); however, the causality remains unclear. We aimed to further evaluate the causal association between 41 circulating inflammatory cytokines and functional outcomes following IS. Methods: Two‐sample bidirectional Mendelian randomization (MR) analysis was used in this study. The genetic variation of 41 circulating inflammatory cytokines were derived from genome‐wide association study (GWAS) data of European ancestry (n = 8293). The corresponding genetic association of functional outcomes following IS were derived from European ancestry GWAS data (n = 6021). Results: Inverse variance weighted (IVW) analysis showed that genetically predicted increased levels of regulation and activation in normal T‐cell expression and secretion factor (RANTES/CCL5) and eosinophilic chemotactic factor (EOTAXIN/CCL11) were positively correlated with the increased adverse functional outcomes (modified Rankin Scale [mRS≥3] following IS (OR: 1.40, 95% CI: 1.002–1.96, p = 0.049; OR: 1.33, 95% CI: 1.15–1.54, p = 0.0001). Interleukin 18 (IL‐18) level might be the downstream consequence of adverse functional outcomes following IS (β: −0.09, p = 0.039). Other inflammatory cytokines and functional outcomes following IS did not appear to be causally related. Conclusions: This study suggests a causality between inflammation and adverse functional outcomes following IS. RANTES (CCL5) and EOTAXIN (CCL11) may be the upstream factors of adverse functional outcomes following IS, while IL‐18 may be the downstream effect of adverse functional outcomes following IS. Whether these cytokines can be used to predict or improve adverse functional outcomes after IS requires further researches. [ABSTRACT FROM AUTHOR]

Both basal and glucose-stimulated insulin release occur primarily by insulin secretory granule exocytosis from pancreatic [beta] cells, and both are needed to maintain normoglycemia. Loss of insulin-secreting [beta] cells, accompanied by abnormal glucose tolerance, may involve simple exhaustion of insulin reserves (which, by immunostaining, appears as a loss of [beta] cell identity), or [beta] cell dedifferentiation, or [beta] cell death. While various sensing and signaling defects can result in diminished insulin secretion, somewhat less attention has been paid to diabetes risk caused by insufficiency in the biosynthetic generation and maintenance of the total insulin granule storage pool. This Review offers an overview of insulin biosynthesis, beginning with the preproinsulin mRNA (translation and translocation into the ER), proinsulin folding and export from the ER, and delivery via the Golgi complex to secretory granules for conversion to insulin and ultimate hormone storage. All of these steps are needed for generation and maintenance of the total insulin granule pool, and defects in any of these steps may, weakly or strongly, perturb glycemic control. The foregoing considerations have obvious potential relevance to the pathogenesis of type 2 diabetes and some forms of monogenic diabetes; conceivably, several of these concepts might also have implications for [beta] cell failure in type 1 diabetes., Brief description of insulin mRNA quantity and quality Many factors may contribute to the control of insulin mRNA levels (1, 2), including transcriptional networks that control [beta] cell function (3) [...]

The sources of air pollutants and CO2 are basically the same, hence the reduction of air pollutants will affect CO2 emissions. Considering the regional integration of economic development as well as air pollution control, it is necessary to analyze the impact of air pollutants reduction in a region on CO2 emissions in its surrounding regions. Furthermore, as different stages of air pollutants reduction have different effects on CO2 emissions, it is also important to study the heterogeneity of this impact. In this article, we took China as the research case and built a spatial panel model based on the data of 240 cities above the prefecture level from 2005 to 2016 to study the impact of two different stages of air pollutants reduction—front reduction of air pollutants (FRAP) and end-of-pipe treatment of air pollutants (EPAP) on CO2 emissions—and their spatial spillover effects. On this basis, we further modified traditional spatial weight matrix and constructed the matrices of cities in the same and different provinces to discuss the influence of provincial administrative boundaries on the spillover effect between cities. The results show that FRAP affects CO2 emissions mainly through the local synergistic effect, and its spatial spillover effect is not significant. The local effect of EPAP on CO2 emissions is antergic, and the spatial spillover effect is significant. The increase of a city's EPAP will increase the CO2 emissions in surrounding regions. Besides, provincial boundaries weaken the spatial spillover effects of FRAP and EPAP on CO2 emissions in prefecture-level cities. There is a significant spatial spillover effect between cities in the same province, but the spillover effect does not exist for cities in different provinces nearby. [ABSTRACT FROM AUTHOR]