A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.

BACKGROUND: Isodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are relatively rare. CASE PRESENTATION: We described a 10-year-old boy presenting hypospadias, micropenis and short stature, as well as unilateral cryptorchidism without normal testicular seminiferous tubules structure by biopsy. Whole exome sequencing didn't find any pathogenic/likely pathogenic variants related to phenotypes of this patient. Copy number variation sequencing showed the duplication of whole Y chromosome. Subsequently, karyotyping and FISH analyses demonstrated his genetic diagnosis was mosaic 45,X[8]/46,X,psu idic(Y)(q12)[32], with the breakpoint in Yq12. CONCLUSIONS: Our case proved that it would be beneficial to integrate high-throughput sequencing with cytogenetic technique for precise diagnosis, treatment and genetic counselling.

Chameleon-inspired active tunable structural color based on smart skin with multi-functions of structural color, sensing and actuation.

Tunable structural color has many potential applications in artificial camouflage, mechanical sensors, etc. Despite the extensive efforts to develop efficient tunable structural color, there is still a wide gap between the existing "passive" tuning methods and the "active" strategy found on organisms such as chameleons that can change color according to the environment. Inspired by the active tunable color system of chameleons, we propose a smart skin comprising a nanoscale hole array of photonic crystals, carbon nanotube coatings, and liquid crystal elastomers, to integrate multiple functions, i.e., structural color tunability, sensing, and actuation, in one structure. The smart skin was further coupled with an image acquisition unit (which mimics eyes to obtain colors from the environment) and a controller (which mimics the brain to process the signals transmitted from the image acquisition unit to the smart skin), to construct an active tunable structural color system. The proposed system autonomously modulates the color according to the environmental color. To validate the color tuning, color scanning from red to green to blue or vice versa is demonstrated in this work, which could certainly open up new paths to create active tunable structural color systems, and thus, push the development of structural color-based devices and systems.

Expanding outpatient benefits package can reduce diabetes-related avoidable hospitalizations.

Objective: To evaluate the policy effect of replacing hospitalization service with outpatient service and reducing diabetes-related avoidable hospitalizations by improving outpatient benefits package. Methods: A database of hospital discharge from 2015 to 2017 in City Z was used. All diabetic inpatient cases enrolled in Urban Employee Basic Medical Insurance were selected as the intervention group, and diabetic inpatient cases enrolled in Urban and Rural Resident Basic Medical Insurance were selected as the control group. The Difference-in-Difference model was used to analyze the effect of improving outpatient benefits package level of diabetes from 1800 yuan (about $252.82) to 2400 yuan (about $337.09) per capita per year on avoidable hospitalization rate, average hospitalization cost and average length of stay. Results: The avoidable hospitalization rate of diabetes mellitus decreased by 0.21 percentage points (P < 0.01), the average total cost of hospitalization increased by 7.89% (P < 0.01), and the average length of stay per hospitalization increased by 5.63% (P < 0.01). Conclusions: Improving the outpatient benefits package of diabetes can play a role in replacing hospitalization service with outpatient service, reducing diabetes-related avoidable hospitalizations, and reducing the disease burden and financial burden.

Multifunctional Hybrid Interfacial Layers for High-Performance Inverted Perovskite Solar Cells.

Challenges remain hindering the performance and stability of inverted perovskite solar cells (PSCs), particularly for the nonstable interface between lead halide perovskite and charge extraction metal oxide layer. Herein, we report a simple yet scalable interfacial strategy to facilitate the assemble of high-performance inverted PSCs and scale-up modules. The hybrid interfacial layer containing self-assembly triphenylamine and conjugated poly(arylamine) simultaneously improves the chemical stability, charge extraction and energy level alignment of hole-selective interface, meanwhile promoting perovskite crystallization. Consequently, the correspondent inverted PSCs and modules achieved remarkable power conversion efficiencies (PCEs) of 24.5% and 20.7% (aperture area of 19.4 cm2 ), respectively. The PSCs maintained over 80% of its initial efficiency under one-sun equivalent illumination of 1200 hours. This strategy is also effective to perovskite with various bandgaps, demonstrating the highest PCE of 19.6% for the 1.76-eV bandgap PSCs. Overall, this work provides a simple yet scalable interfacial strategy for obtaining state-of-the-art inverted PSCs and modules. This article is protected by copyright. All rights reserved.

Experimental Investigation on the Surface Formation Mechanism of NdFeB during Diamond Wire Sawing.

Diamond wire sawing is widely used in processing NdFeB rare earth permanent magnets. However, it induces periodic saw marks and fracture chipping pits, which severely affect the flatness and surface quality of the products. In this study, the lateral motion of the diamond wire was monitored to determine the surface formation mechanism. Then, a white light interferometer and an SEM were used to observe the sawed surface profile. Finally, the surface quality was quantitatively studied by identifying the area rate of fracture chipping pits with an image recognition MATLAB script. According to the observation results, the calculation formula of PV which is related to the process parameters was deduced. Additionally, by combining the fracture rate and wire vibration, a novel method was proposed to investigate the optimal process parameters. It can be found that the surface quality sawed at P = 0.21 MPa, vf = 0.2 mm/min, and vs = 1.8 m/s remains better than when sawed at P = 0.15 MPa, vf = 0.1 mm/min, and vs = 1.8 m/s, which means the sawing efficiency can be doubled under such circumstances, i.e., when the surface quality remains the same.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia.

BACKGROUND: Selectively targeting leukemia stem cells (LSCs) is a promising approach in treating acute myeloid leukemia (AML), for which identification of such therapeutic targets is critical. Increasing lines of evidence indicate that FBXO22 plays a critical role in solid tumor development and therapy response. However, its potential roles in leukemogenesis remain largely unknown. METHODS: We established a mixed lineage leukemia (MLL)-AF9-induced AML model with hematopoietic cell-specific FBXO22 knockout mice to elucidate the role of FBXO22 in AML progression and LSCs regulation, including self-renewal, cell cycle, apoptosis and survival analysis. Immunoprecipitation combined with liquid chromatography-tandem mass spectrometry analysis, Western blotting and rescue experiments were performed to study the mechanisms underlying the oncogenic role of FBXO22. RESULTS: FBXO22 was highly expressed in AML, especially in MLL-rearranged (MLLr) AML. Upon FBXO22 knockdown, human MLLr leukemia cells presented markedly increased apoptosis. Although conditional deletion of Fbxo22 in hematopoietic cells did not significantly affect the function of hematopoietic stem cells, MLL-AF9-induced leukemogenesis was dramatically abrogated upon Fbxo22 deletion, together with remarkably reduced LSCs after serial transplantations. Mechanistically, FBXO22 promoted degradation of BACH1 in MLLr AML cells, and overexpression of BACH1 suppressed MLLr AML progression. In line with this, heterozygous deletion of BACH1 significantly reversed delayed leukemogenesis in Fbxo22-deficient mice. CONCLUSIONS: FBXO22 promotes MLLr AML progression by targeting BACH1 and targeting FBXO22 might be an ideal strategy to eradicate LSCs without influencing normal hematopoiesis.

Cumulus Cells Accelerate Postovulatory Oocyte Aging through IL1-IL1R1 Interaction in Mice.

The oocytes of female mammals will undergo aging after ovulation, also known as postovulatory oocyte aging (POA). Until now, the mechanisms of POA have not been fully understood. Although studies have shown that cumulus cells accelerate POA over time, the exact relationship between the two is still unclear. In the study, by employing the methods of mouse cumulus cells and oocytes transcriptome sequencing and experimental verification, we revealed the unique characteristics of cumulus cells and oocytes through ligand-receptor interactions. The results indicate that cumulus cells activated NF-κB signaling in oocytes through the IL1-IL1R1 interaction. Furthermore, it promoted mitochondrial dysfunction, excessive ROS accumulation, and increased early apoptosis, ultimately leading to a decline in the oocyte quality and the appearance of POA. Our results indicate that cumulus cells have a role in accelerating POA, and this result lays a foundation for an in-depth understanding of the molecular mechanism of POA. Moreover, it provides clues for exploring the relationship between cumulus cells and oocytes.

Gender difference in the relationship between personality traits and changes in depressive symptoms before and after the COVID-19 outbreak: A follow-up study among Chinese adults.

OBJECTIVES: Increasing depressive symptoms have become an urgent public health concern worldwide. This study aims to explore the correlation between personality traits and changes in depressive symptoms before and after the COVID-19 outbreak and to examine the gender difference in this association further. METHODS: Data were obtained from the China Family Panel Studies (CFPS, wave in 2018 and 2020). A total of 16,369 residents aged 18 and above were included in this study. Multinomial logistic regression analysis was used to examine whether personality traits were associated with changes in depressive symptoms. We also analyzed whether there was an interaction effect of gender and personality traits on depressive symptoms. RESULTS: Conscientiousness, extroversion, and agreeableness are negatively associated with depressive symptoms, while neuroticism and openness are positively related. Gender moderates the relationship between personality traits and depressive symptoms. Compared to men, women have demonstrated a stronger association between neuroticism (OR = 0.79; 95 % CI = 0.66, 0.94), conscientiousness (OR = 1.40; 95 % CI = 1.15, 1.69), and persistent depressive symptoms. LIMITATIONS: Given its longitudinal study design, it is insufficient to draw a causal inference between personality traits and depressive symptoms. CONCLUSION: Personality traits and their various dimensions are correlated with changes in depressive symptoms. Persistent depressive symptoms are positively related to neuroticism and negatively associated with conscientiousness. Women demonstrate a stronger association between personality traits and persistent depressive symptoms. Thus, in Chinese adults' mental health intervention and prevention programs, personality and gender-specific strategies should be considered, especially in the context of the COVID-19 pandemic.

An ionic/thermal-responsive agar/alginate wet-spun microfiber-shaped hydrogel combined with grooved/wrinkled surface patterns and multi-functions.

A dual stimuli-responsive wet-spun microfiber-shaped hydrogel is prepared by injecting a hot blend of two stimuli biopolymers alginate (i.e., ionic-responsive) and agar (i.e., temperature-responsive) into a pre-cooling and metal cation containing coagulation bath. Experimental results indicate the fiber microstructure could be manipulated by the extrusion rate and cooling temperature, achieving an anisotropic shrinkage characteristic and novel grooved/wrinkled surface patterns. Importantly, the integration of metal cations (e.g., Ca2+and/or Zn2+) was confirmed to significantly improve the hydrogel mechanical properties (i.e., double networks) and enhanced blue fluorescent intensity as a typical metal-polymer complexation formed within the agar gel matrix. Moreover, the functionality-independent double networks enabled typical pH-shape memory and sustainable antibacterial properties have also been demonstrated. Therefore, combing the facile fabricating approach and multifunctionality, this study would advance the development of stimuli-responsive hydrogel microfiber for complex biomedical systems.

A Mechanistic Study of HZSM-5-Catalyzed Guaiacol Amination Using Photoionization Time-of-Flight Mass Spectrometry.

Thermal-catalytic conversion and amination (TCC-A) of lignin and lignin derivates over zeolites is a promising and renewable method to produce aromatic amines, but suffers from product diversity. Currently, no unambiguous mechanism could fully describe the chemistry of this process. In this work, the TCC-A mechanism of guaiacol, a typical lignin model compound, with ammonia over HZSM-5 was investigated by online photoionization time-of-flight mass spectrometry combined with density functional theory. Various products including amines, pyrroles, and pyridines were identified. The formation of methylamine and aminophenol below 400 °C via nucleophilic substitutions is attributed to the strong adsorption of ammonia on the active site of HZSM-5. Aniline is the major product above 400 °C coproduced with pyrroles and pyridines. It is suggested that the reactions among radical intermediates (•CH3 and •NH2) and molecules (guaiacol and catechol) lead to poor aniline selectivity via transmethylation, amination, and partial deoxygenation reactions. Hydroamination is proposed as the main formation mechanism of pyrroles and pyridines. The maximum yield of aniline can be achieved at 650 °C owing to the enhancement of amination and deoxygenation and the suppression of transmethylation reactions.

Bio-Inspired Soft-Rigid Hybrid Smart Artificial Muscle Based on Liquid Crystal Elastomer and Helical Metal Wire.

Artificial muscles are of significant value in robotic applications. Rigid artificial muscles possess a strong load-bearing capacity, while their deformation is small; soft artificial muscles can be shifted to a large degree; however, their load-bearing capacity is weak. Furthermore, artificial muscles are generally controlled in an open loop due to a lack of deformation-related feedback. Human arms include muscles, bones, and nerves, which ingeniously coordinate the actuation, load-bearing, and sensory systems. Inspired by this, a soft-rigid hybrid smart artificial muscle (SRH-SAM) based on liquid crystal elastomer (LCE) and helical metal wire is proposed. The thermotropic responsiveness of the LCE is adopted for large reversible deformation, and the helical metal wire is used to fulfill high bearing capacity and electric heating function requirements. During actuation, the helical metal wire's resistance changes with the LCE's electrothermal deformation, thereby achieving deformation-sensing characteristics. Based on the proposed SRH-SAM, a reconfigurable blazed grating plane and the effective switch between attachment and detachment in bionic dry adhesion are accomplished. The SRH-SAM opens a new avenue for designing smart artificial muscles and can promote the development of artificial muscle-based devices.

The potential effects of chlorophyll-deficient mutation and tree_age on the accumulation of amino acid components in tea plants.

Albino tea has been receiving growing attention on the tea market due to its attractive appearance and fresh taste, mainly caused by high amino acid contents. Here, variations in the contents of five free amino acids in relation to pigment contents and tree age in two hybrid populations'Longjin 43'(♀) × 'Baijiguan'(♂) and 'Longjin 43'(♀) ×'Huangjinya'(♂) with 334 first filial generation individuals including chlorophyll-deficient and normal tea plants were investigated. The data showed that the contents of main amino acids in all filial generation gradually decreased as plant age increased. Principal component analysis indicated that the amino acid content of individual plant tended to be stable with the growth of plants. Correlation analysis clarified that several main amino acids were significantly negatively correlated with chlorophyll a, chlorophyll b and carotenoid contents. Our results showed that the accumulation of amino acids in tea plant was closely related to leaf color variation and the tree age during growing period.

Flexible Electronics Based on Organic Semiconductors: from Patterned Assembly to Integrated Applications.

Organic flexible electronic devices are at the forefront of the electronics as they possess the potential to bring about a major lifestyle revolution owing to outstanding properties of organic semiconductors, including solution processability, lightweight and flexibility. For the integration of organic flexible electronics, the precise patterning and ordered assembly of organic semiconductors have attracted wide attention and gained rapid developments, which not only reduces the charge crosstalk between adjacent devices, but also enhances device uniformity and reproducibility. This review focuses on recent advances in the design, patterned assembly of organic semiconductors, and flexible electronic devices, especially for flexible organic field-effect transistors (FOFETs) and their multifunctional applications. First, typical organic semiconductor materials and material design methods are introduced. Based on these organic materials with not only superior mechanical properties but also high carrier mobility, patterned assembly strategies on flexible substrates, including one-step and two-step approaches are discussed. Advanced applications of flexible electronic devices based on organic semiconductor patterns are then highlighted. Finally, future challenges and possible directions in the field to motivate the development of the next generation of flexible electronics are proposed.

Lipid nanoparticle-mediated mRNA delivery in lung fibrosis.

mRNA delivery enables the specific synthesis of proteins with therapeutic potential, representing a powerful strategy in diseases lacking efficacious pharmacotherapies. Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by excessive extracellular matrix (ECM) deposition and subsequent alveolar remodeling. Alveolar epithelial type 2 cells (AEC2) and fibroblasts represent important targets in IPF given their role in initiating and driving aberrant wound healing responses that lead to excessive ECM deposition. Our objective was to examine a lipid nanoparticle (LNP)-based mRNA construct as a viable strategy to target alveolar epithelial cells and fibroblasts in IPF. mRNA-containing LNPs measuring ∼34 nm had high encapsulation efficiency, protected mRNA from degradation, and exhibited sustained release kinetics. eGFP mRNA LNP transfection in human primary cells proved dose- and time-dependent in vitro. In a bleomycin mouse model of lung fibrosis, luciferase mRNA LNPs administered intratracheally led to site-specific lung accumulation. Importantly, bioluminescence signal was detected in lungs as early as 2 h after delivery, with signal still evident at 48 h. Of note, LNPs were found associated with AEC2 and fibroblasts in vivo. Findings highlight the potential for pulmonary delivery of mRNA in IPF, opening therapeutic avenues aimed at halting and potentially reversing disease progression.

Gender difference in the relationship between personality traits and changes in depressive symptoms before and after the COVID-19 outbreak: A follow-up study among Chinese adults.

OBJECTIVES: Increasing depressive symptoms have become an urgent public health concern worldwide. This study aims to explore the correlation between personality traits and changes in depressive symptoms before and after the COVID-19 outbreak and to examine the gender difference in this association further. METHODS: Data were obtained from the China Family Panel Studies (CFPS, wave in 2018 and 2020). A total of 16,369 residents aged 18 and above were included in this study. Multinomial logistic regression analysis was used to examine whether personality traits were associated with changes in depressive symptoms. We also analyzed whether there was an interaction effect of gender and personality traits on depressive symptoms. RESULTS: Conscientiousness, extroversion, and agreeableness are negatively associated with depressive symptoms, while neuroticism and openness are positively related. Gender moderates the relationship between personality traits and depressive symptoms. Compared to men, women have demonstrated a stronger association between neuroticism (OR = 0.79; 95 % CI = 0.66, 0.94), conscientiousness (OR = 1.40; 95 % CI = 1.15, 1.69), and persistent depressive symptoms. LIMITATIONS: Given its longitudinal study design, it is insufficient to draw a causal inference between personality traits and depressive symptoms. CONCLUSION: Personality traits and their various dimensions are correlated with changes in depressive symptoms. Persistent depressive symptoms are positively related to neuroticism and negatively associated with conscientiousness. Women demonstrate a stronger association between personality traits and persistent depressive symptoms. Thus, in Chinese adults' mental health intervention and prevention programs, personality and gender-specific strategies should be considered, especially in the context of the COVID-19 pandemic.

Osteoblast-intrinsic defect in glucose metabolism impairs bone formation in type II diabetic mice.

Skeletal fragility is associated with type 2 diabetes mellitus (T2D), but the underlying mechanism is not well understood. Here, in a mouse model for youth-onset T2D, we show that both trabecular and cortical bone mass are reduced due to diminished osteoblast activity. Stable isotope tracing in vivo with 13 C-glucose demonstrates that both glycolysis and glucose fueling of the TCA cycle are impaired in diabetic bones. Similarly, Seahorse assays show suppression of both glycolysis and oxidative phosphorylation by diabetes in bone marrow mesenchymal cells as a whole, whereas single-cell RNA sequencing reveals distinct modes of metabolic dysregulation among the subpopulations. Metformin not only promotes glycolysis and osteoblast differentiation in vitro, but also improves bone mass in diabetic mice. Finally, targeted overexpression of Hif1a or Pfkfb3 in osteoblasts of T2D mice averts bone loss. The study identifies osteoblast-intrinsic defects in glucose metabolism as an underlying cause of diabetic osteopenia, which may be targeted therapeutically.

Construction of a portable immunosensor for the sensitive detection of carbendazim in agricultural products using a personal glucose meter.

Portable and sensitive detection of carbendazim (CBD) is highly desirable for food safety and environmental protection. Herein, a portable immunosensor for the sensitive detection of CBD is proposed based on alkaline phosphatase (ALP)-labeled and secondary antibody-modified gold nanoparticles (AuNPs). The quantification is based on ALP catalyzing the dephosphorylation of glucose-1-phosphate disodium salt to generate glucose, thus converting the concentration of CBD into glucose, thereby realizing the portable detection of CBD by personal glucose meter. Benefiting from signal amplification strategy that integrates the large specific surface area of AuNPs, the enzymatic reactions of terminal deoxynucleotidyl transferase and ALP, a low detection limit of 0.37 ng/mL for CBD is achieved. When this portable method is used to analyze citrus fruit, canned citrus, and cabbage, good-consistency results are obtained with the UPLC-MS/MS method. The good performance demonstrates the great potential of this portable method for CBD monitoring in resource-poor settings.

The influencing factors of infectious complications after percutaneous nephrolithotomy: a systematic review and meta-analysis.

Infection is the most common complications of percutaneous nephrolithotomy (PCNL) in treating urinary calculi. However, the risk factors for developing infectious complications after surgery have not been clarified, and the predictive value of some factors is controversial. This study aimed to assess the risk factors for postoperative infectious complications of PCNL. We performed a systematic search of PubMed, Web of Science, Cochrane Library, and EMBASE to obtain studies reporting risk factors for postoperative infection complications after PCNL. In this review, demographic factors, laboratory test factors, and perioperative factors were evaluated. The odds ratio (OR) or mean difference (MD) with a 95% confidence interval (CI) was calculated to assess the risk factors. A total of 18 studies were included, with a total of 7161 study patients with a mean age of 46.4 to 55.5 years and an incidence of infectious complications after PCNL ranging from 2.4% to 40.4%. Twelve factors were identified as independent risk factors for post-PCNL infection complications (P < 0.05), female (OR = 1.60, 95% CI 1.23-2.07), positive urine culture (UC) (OR = 3.16, 95% CI 2.11-4.74), positive renal pelvis urine culture (RPUC) (OR = 5.81, 95% CI 1.75-19.32), positive stone culture (SC) (OR = 5.11, 95% CI 1.46-17.89), positive urine leukocyte (OR = 3.61, 95% CI 2.45-5.34), infected stones (OR = 7.00, 95% CI 1.27-38.55), elevated blood leukocyte (MD = 0.71, 95% CI 0.31-1.10), elevated neutrophil-to-lymphocyte ratio (NLR) (MD = 0.55, 95% CI 0.43-0.66), preoperative stenting (OR = 1.55, 95% CI 1.10-2.20), multiple puncture access (OR = 2.58, 95% CI 1.75-3.82), prolonged operative time (MD = 10 20, 95% CI 4.80-15.60), and postoperative residual stone (OR = 1.56, 95% CI 1.24-1.98). Female, UC positivity, RPUC positivity, SC positivity, urine leukocyte positivity, infected stones, elevated peripheral blood leukocytes, elevated NLR, preoperative stent implantation, multiple puncture channels, prolonged operation time, and postoperative residual stones were identified as independent risk factors for infection complications after PCNL.

Identification of volatile organic compound emissions from anthropogenic and biogenic sources based on satellite observation of formaldehyde and glyoxal.

Anthropogenic volatile organic compounds (VOCs) are serious pollutants in the atmosphere because of their toxicity and as precursors of secondary organic aerosols and ozone pollution. Although in-situ measurements provide accurate information on VOCs, their spatial coverage is limited and insufficient. In this study, we provide a global perspective for identifying anthropogenic VOC emission sources through the ratio of glyoxal to formaldehyde (RGF) based on satellite observations. We assessed typical cities and polluted areas in the mid latitudes and found that some Asian cities had higher anthropogenic VOC emissions than cities in Europe and America. For heavily polluted areas, such as the Yangtze River Delta (YRD), the areas dominated by anthropogenic VOCs accounted for 23 % of the total study areas. During the COVID-19 pandemic, a significant decline in RGF values was observed in the YRD and western United States, corresponding to a reduction in anthropogenic VOC emissions. Furthermore, developing countries appeared to have higher anthropogenic VOC emissions than developed countries. These observations could contribute to optimising industrial structures and setting stricter pollution standards to reduce anthropogenic VOCs in developing countries.