Elucidating the regulatory role of long non-coding RNAs in drought stress response during seed germination in leaf mustard.

Leaf mustard (Brassica juncea L. Czern & Coss), an important vegetable crop, experiences pronounced adversity due to seasonal drought stress, particularly at the seed germination stage. Although there is partial comprehension of drought-responsive genes, the role of long non-coding RNAs (lncRNAs) in adjusting mustard's drought stress response is largely unexplored. In this study, we showed that the drought-tolerant cultivar 'Weiliang' manifested a markedly lower base water potential (-1.073 MPa vs -0.437 MPa) and higher germination percentage (41.2% vs 0%) than the drought-susceptible cultivar 'Shuidong' under drought conditions. High throughput RNA sequencing techniques revealed a significant repertoire of lncRNAs from both cultivars during germination under drought stress, resulting in the identification of 2,087 differentially expressed lncRNAs (DELs) and their correspondingly linked 12,433 target genes. It was noted that 84 genes targeted by DEL exhibited enrichment in the photosynthesis pathway. Gene network construction showed that MSTRG.150397, a regulatory lncRNA, was inferred to potentially modulate key photosynthetic genes (Psb27, PetC, PetH, and PsbW), whilst MSTRG.107159 was indicated as an inhibitory regulator of six drought-responsive PIP genes. Further, weighted gene co-expression network analysis (WGCNA) corroborated the involvement of light intensity and stress response genes targeted by the identified DELs. The precision and regulatory impact of lncRNA were verified through qPCR. This study extends our knowledge of the regulatory mechanisms governing drought stress responses in mustard, which will help strategies to augment drought tolerance in this crop.

Variation of groundwater and mineral composition of in situ leaching uranium in Bayanwula mining area, China.

The reaction between the lixiviant and the minerals in the aquifer of In-situ uranium leaching (ISL) will result mineral dissolution and precipitation. ISL will cause changes in the chemical composition of groundwater and the porosity and permeability of aquifer, as well as groundwater pollution. Previous studies lack three-dimension numerical simulation that includes a variety of minerals and considers changes in porosity and permeability properties simultaneously. To solve these problems, a three-dimensional reactive transport model (RTM) which considered minerals, main water components and changes in porosity and permeability properties in Bayanwula mine has been established. The results revealed that: (1) Uranium elements were mainly distributed inside the mining area and had a weak trend of migration to the outside. The strong acidity liquid is mainly in the mining area, and the acidity liquid dissolved the minerals during migrating to the outside of the mining area. The concentration front of major metal cations such as K+, Na+, Ca2+ and Mg2+ is about 150m away from the boundary. (2) The main dissolved minerals include feldspar, pyrite, calcite, sodium montmorillonite and calcium montmorillonite. Calcite is the most soluble mineral and one of the sources of gypsum precipitation. Other minerals will dissolve significantly after calcite is dissolved. (3) ISL will cause changes in porosity and permeability of the mining area. Mineral dissolution raises porosity and permeability near the injection well. Mineral precipitation reduced porosity and permeability near the pumping well, which can plugging the pore throat and affect recovery efficiency negatively.

Solidify Eutectic Electrolytes via the Added MXene as Nucleation Sites for a Solid-State Zinc-Ion Battery with Reconstructed Ion Transport.

Stationary energy storage infrastructure based on zinc-ion transport and storage chemistry is attracting more attention due to favorable metrics, including cost, safety, and recycling feasibility. However, splitting water and liquid electrolyte fluidity lead to cathode dissolution and Zn corrosion, resulting in rapid attenuation of the capacity and service life. Herein, a new architecture of solid-state electrolytes with high zinc ionic conductivity at room temperature was prepared via solidification of deep eutectic solvents utilizing MXene as nucleation additives. The ionic conductivity of MXene/ZCEs reached 6.69 × 10-4 S cm-1 at room temperature. Dendrite-free Zn plating/stripping with high reversibility can remain for over 2500 h. Subsequently, the fabricated solid-state zinc-ion battery with eliminated HER and suppressed Zn dendrites exhibited excellent cycling performance and could work normally in a range from -10 to 60 °C. This design inspired by eutectic solidification affords new insights into the multivalent solid electrochemistry suffering from slow ion migration.

[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes].

OBJECTIVE: To explore the clinical characteristics and molecular basis for children and adolescents with monogenic diabetes. METHODS: A retrospective analysis was carried out for the clinical manifestations and laboratory data of 116 children and adolescents diagnosed with diabetes at Ningbo Women and Children's Hospital from January 2020 to March 2023. Whole exome sequencing and mitochondrial gene sequencing were carried out on 21 children with suspected monogenic diabetes. RESULTS: A total of 10 cases of monogenic diabetes were diagnosed, all of which were Maturity-onset Diabetes Of the Young (MODY). Six cases of MODY2 were due to GCK gene mutations, 1 case of MODY3 was due to HNF1A gene mutation, 2 cases of MODY12 were due to ABCC8 gene mutations, and 1 case of MODY13 was due to KCNJ11 gene mutation. Nine of the 10 patients with MODY had no typical symptoms of diabetes. A family history of diabetes was significantly more common in the MODY group compared with the T1DM and T2DM groups (P < 0.05). The BMI of the MODY group was higher than that of the T1DM group (P < 0.05). The initial blood glucose level was lower than that of the T1DM group (P < 0.05), and there was no significant difference compared with the T2DM group. The fasting C-peptide level of the MODY group was higher than that of the T1DM group (P < 0.05), and there was no significant difference compared with the T2DM group. Glycosylated hemoglobin of the MODY group was lower than both the T1DM and T2DM groups (P < 0.05). CONCLUSION: In this study, MODY has accounted for the majority of monogenic diabetes among children and adolescents, and the common mutations were those of the GCK gene in association with MODY2. Blood glucose and glycosylated hemoglobin of children with MODY were slightly increased, whilst the islet cell function had remained, and the clinical manifestations and laboratory tests had overlapped with those of type 2 diabetes. WES and mitochondrial gene sequencing can clarify the etiology of monogenic diabetes and facilitate precise treatment.

Lattice-Confined Single-Atom Catalyst: Preparation, Application and Electron Regulation Mechanism.

Lattice-confined single-atom catalyst (LC SAC), featuring exceptional activity, intriguing stability and prominent selectivity, has attracted extensive attention in the fields of various reactions (e.g., hydrogen evolution reaction (HER), oxygen evolution reaction (OER), oxygen reduction reaction (ORR), etc.). To design a "smart" LC SAC for catalytic applications, one must systematically comprehend updated advances in the preparation, the application, and especially the peculiar electron regulation mechanism of LC SAC. In this review, the specific preparation methods of LC SAC based on general coordination strategy are updated, and its applications in HER, OER, ORR, N2 reduction reaction (NRR), advanced oxidation processes (AOPs) and so forth are summarized to display outstanding activity, stability and selectivity. Uniquely, the electron regulation mechanisms are first and deeply discussed and can be primarily categorized as electron transfer bridge with monometallic active sites, novel catalytic centers with polymetallic active sites, and positive influence by surrounding environments. In the end, the existing issues and future development directions are put forward with a view to further optimize the performance of LC SAC. This review is expected to contribute to the in-depth understanding and practical application of highly efficient LC SAC.

Construction of Pd-Te Intermetallic Compounds to Achieve Ultrastable Oxygen Reduction Activity.

Palladium (Pd)-transition metal alloys have the potential to regulate the intermediate surface adsorption strength in oxygen reduction reactions (ORR), making them a promising substitute for platinum-based catalysts. Nonetheless, prolonged electrochemical cycling can lead to the depletion of transition metals, resulting in structural degradation and poor durability. Herein, the synthesis of alloy catalysts (Pd25%Te75%) containing Pd and the metalloid tellurium (Te) through a one-step reduction method is reported. Characterizations of powder X-ray photoelectron spectroscopy, X-ray diffraction, and high-resolution transmission electron microscopy demonstrated both uniform dispersion and strong binding force of elements within the PdTe alloy, along with providing crystallographic details of associated compounds. Based on density functional theory calculations, PdTe had a more negative d-band center than that of pure Pd, which reduces the adsorption capacity between active sites and intermediates in the ORR, and therefore enhances reaction kinetics. The Pd25%Te75% exhibited excellent ORR activity, and its onset and half-wave potentials were ∼0.98 and ∼0.90 V, respectively, at 1600 rpm within the O2-saturated 1.0 M KOH. Significantly, accelerated durability tests achieved exceptional stability, and half-wave potential just decayed by 4 mV after 30000 consecutive cycles. Moreover, this study aims to promote the preparation of Pd and metalloid alloys for other energy conversion applications.

Decoding Fujian's cervical HPV landscape: unmasking dominance of non-16/18 HR-HPV and tailoring prevention strategies at a large scale.

Background: Persistent HR-HPV causes cervical cancer, exhibiting geographic variance. Europe/Americas have higher HPV16/18 rates, while Asia/Africa predominantly have non-16/18 HR-HPV. This study in Fujian, Asia, explores non-16/18 HR-HPV infections, assessing their epidemiology and cervical lesion association for targeted prevention. Methods: A total of 101,621 women undergoing HPV screening at a hospital in Fujian Province from 2013 to 2019 were included. HPV genotyping was performed. A subset of 11,666 HPV-positive women with available histopathology results were analyzed to characterize HPV genotype distribution across cervical diagnoses. Results: In 101,621 samples, 24.5% tested positive for HPV. Among these samples, 17.3% exhibited single infections, while 7.2% showed evidence of multiple infections. The predominant non-16/18 high-risk HPV types identified were HPV 52, 58, 53, 51, and 81. Single HPV infections accounted for 64.1% of all HPV-positive cases, with 71.4% of these being non-16/18 high-risk HPV infections. Age-related variations were observed in 11,666 HPV-positive patients with pathological results. Cancer patients were older. In the cancer group, HPV52 (21.8%) and HPV58 (18.6%) were the predominant types, followed by HPV33, HPV31, and HPV53. Compared to single HPV16/18 infection, non-16/18 HPV predominated in LSIL. Adjusted odds ratios (OR) for LSIL were elevated: multiple HPV16/18 (OR 2.18), multiple non-16/18 HR-HPV (OR 2.53), and multiple LR-HPV (OR 2.38). Notably, solitary HPV16/18 conferred higher odds for HSIL and cancer. Conclusion: Our large-scale analysis in Fujian Province highlights HPV 52, 58, 53, 51, and 81 as predominant non-16/18 HR-HPV types. Multiple HPV poses increased LSIL risks, while solitary HPV16/18 elevates HSIL and cancer odds. These findings stress tailored cervical cancer prevention, highlighting specific HPV impacts on lesion severity and guiding region-specific strategies for optimal screening in Asia, emphasizing ongoing surveillance in the vaccination era.

Tuning Na-Ion Diffusion in MXene/Graphene Oxide Heterostructures: An Ab Initio Molecular Dynamics Study.

The development of heterostructured anode materials provides an effective approach for enhancing the electrochemical performance of sodium-ion batteries (SIBs). In this work, ab initio molecular dynamics simulations and first-principles calculations are employed to investigate the Na-ion intercalation and diffusion in MXene/graphene oxide heterostructures. The influence of graphene oxidation on interlayer spacing, Na-ion diffusion kinetics, and transport mechanisms is examined at an atomic scale. It has been observed that oxygen functional groups can increase the interspacing between adjacent layers, thereby improving the initial embedding of Na ions. However, overoxidation causes an obstructive effect on the ionic conduction channels. An appropriate oxidation degree enables optimal Na-ion migration kinetics while retaining structural integrity. Our simulation results provide crucial insights into the rational design of high-performance MXene-based anodes for SIBs with excellent capacity and cycling stability.

Subsurface wastewater infiltration systems for nitrogen pollution control.

Subsurface wastewater infiltration systems (SWISs) are suggested to be a cost-effective and environmentally friendly method for sewage treatment. However, a comprehensive summary of the relevant mechanisms and optimization methods for nitrogen (N) removal in SWIS is currently lacking. In this review, we first summarize the N transformation mechanisms in SWIS. The impact of operational parameters on the N removal efficiency is then delineated. To enhance pollutant removal and minimize resource wastage, it is advisable to maintain a wet-dry ratio of 1:1 and a hydraulic loading rate of 8-10 cm/day. The organic load should be determined based on influent characteristics to optimize the balance between sewage treatment and nitrous oxide (N2O) emission. Finally, various strategies and modifications have been suggested to enhance pollutant removal efficiency and reduce N2O emissions in SWIS, such as artificial aeration, supply electron donors, and well-designed structures. Overall, greater emphasis should be placed on the design and management of SWIS to optimize their co-benefits while effectively controlling N pollution. PRACTITIONER POINTS: SWISs are often considered black boxes with their efficiency depending on hydraulic characteristics, biological characteristics, and substrate properties. Biological nitrification coupled with denitrification is considered to be the major N removal process. Increasing the reduction of N2O to the inert N2 form is a potential mechanism to mitigate global warming. Strategies such as artificial aeration, supply electron donors, and well-designed structures are suggested to improve N removal performance.

Exploring the anti-migraine effects of Tianshu capsule: chemical profile, metabolic behavior, and therapeutic mechanisms.

BACKGROUND: Migraine is widely recognized as the third most prevalent medical condition globally. Tianshu capsule (TSC), derived from "Da Chuan Xiong Fang" of the Jin dynasty, is integral in the clinical treatment of migraine. However, the chemical properties and therapeutic mechanisms of TSC different portions remain unclear. PURPOSE: This study was designed to investigate the effects of TSC different portions (including small molecular TSCP-SM and polysaccharides TSC-P) on migraine and explore the underlying mechanisms. STUDY DESIGN AND METHODS: First of all, migraine rats were established by nitroglycerin injection and treated with TSC, TSC-P, and TSC-SM. ELISA, qPCR, and immunofluorescence were used to evaluate the pharmacological effects on migraine rats. Secondly, UPLC-Q/TOF-MS and GC--MS were employed to detect the components of TSC-SM. PMP-HPLC, NMR, FT-IR, UV-Vis, AFM, and SEM were used for the chemical profiling of polysaccharides. Thirdly, the metabolic behavior profile of TSC-P was characterized by oral administrated fluorescence-labeled TSC-P and detected by NIRF imaging. Finally, the anti-migraine mechanisms were explored by determining the composition of gut microbiota, analyzing colonic short-chain fatty acids (SCFAs), and examining serum tryptophan-related metabolites. RESULTS: Both small molecules (45 volatiles and 114 small molecules) and polysaccharides (including Glc, Ara, Gal, and Gal A) have exhibited effectiveness in alleviating migraine, and this efficacy is associated with reduced CGRP and iNOS levels, along with increased ß-EP expressions. Further mechanistic exploration revealed that small-molecules exhibited effectiveness in migraine treatment by exerting antioxidative actions, while polysaccharides demonstrated superior therapeutic effects in regulating 5-HT levels. By monitoring the metabolic behavior of polysaccharides with fluorescent labeling, it was observed that TSC-P exhibited poor absorption. Instead, TSC-P demonstrated its therapeutic effects by modulating the aberrations in gut microbiota (including Alloprevotella, Muribaculaceae_ge, and Ruminococcaceae_UCG-005), cecum short-chain fatty acids (such as isobutyric, isovaleric, and valeric acids), and serum tryptophan-related metabolites (including indole-3-acetamide, tryptophol, and indole-3-propionic acid). CONCLUSION: This research provides innovative insights into chemical composition, metabolic behavior, and proposed anti-migraine mechanisms of TSC from a polarity-based perspective, and pioneering an exploration focused on the polysaccharide components within TSC for the first time.

Structural identification of single boron-doped graphdiynes by computational XPS and NEXAFS spectroscopy.

Boron-doped graphdiyne (B-GDY) material exhibits an excellent performance in electrocatalysis, ion transport, and energy storage. However, accurately identifying the structures of B-GDY in experiments remains a challenge, hindering further selection of suitable structures with the most ideal performance for various practical applications. In the present work, we employed density functional theory (DFT) to simulate the X-ray photoelectron spectra (XPS) and near-edge X-ray absorption fine-structure (NEXAFS) spectra of pristine graphdiyne (GDY) and six representative single boron-doped graphdiynes at the B and C K-edges to establish the structure-spectroscopy relationship. A notable disparity in the C 1s ionization potentials (IPs) between substituted and adsorbed structures is observed upon doping with a boron atom. By analyzing the C and B 1s NEXAFS spectra on energy positions, spectral widths, spectral intensities, and different spectral profiles, we found that the six single boron-doped graphdiyne configurations can be sensitively identified. Moreover, this study provides a reliable theoretical reference for distinguishing different single boron-doped graphdiyne structures, enabling accurate selection of B-GDY structures for diverse practical applications.

Lifetime Prediction of Permanent Magnet Synchronous Motor in Selective Compliance Assembly Robot Arm Considering Insulation Thermal Aging.

The direct-drive selective compliance assembly robot arm (SCARA) is widely used in high-end manufacturing fields, as it omits the mechanical transmission structures and has the advantages of high positioning accuracy and fast movement speed. However, due to the intensifying dynamic coupling problem of structures in the direct-drive SCARA, the permanent magnet synchronous motors (PMSMs) located at the joints will take on nonstationary loads, which causes excessive internal temperature and reduces the lifetime of PMSMs. To address these issues, the lifetime prediction of PMSMs is studied. The kinematic and dynamic models of the SCARA are established to calculate the torque curve required by the PMSM in specific typical motion tasks. Additionally, considering thermal stress as the main factor affecting lifetime, accelerated degradation tests are conducted on insulation material. Then, the reliability function of the PMSM is formulated based on the accelerated degradation model. Based on the parameters and working conditions of the PMSM, the temperature field distribution is obtained through simulation. The maximum temperature is used as the reference temperature to conduct reliability evaluation and lifetime prediction of the PMSM. The research results show that for a typical point-to-point task, the PMSM can run for 102,623 h while achieving the reliability requirement of 0.99.

Self-Powered Visible-Blind Ultraviolet Photodetector Based on Organic-Inorganic Hybrid Copper Halide [N(C2H5)4]2[Cu2Br4].

Organic-inorganic hybrid ternary copper halides offer a broader spectrum of structural possibilities for finely tuning their optoelectronic properties. Herein, we demonstrate for the first time the potential of [N(C2H5)4]2[Cu2Br4], a zero-dimensional hybrid copper halide [(TEA)2Cu2Br4], for ultraviolet (UV) photodetection. A self-powered, visible-blind UV photodetector based on a (TEA)2Cu2Br4/GaN heterojunction architecture is developed, exhibiting a high responsivity, a high detectivity, and fast response speeds. The device demonstrates exceptional stability against environmental oxygen/moisture, heat, and UV light illumination, surpassing the stability of reported copper-based UV photodetectors. Our work highlights the significant potential of (TEA)2Cu2Br4 as a lead-free, stable, and efficient material for next-generation UV photodetection technology.

Possible enrichment process of Cd in the Se-rich soil area of Lanshan District, Shandong Province, China.

High cadmium (Cd) concentrations widely occured in selenium (Se)-rich soils, which has been an important obstacle in the usage of Se-rich soils. There is still no special information detailing the enrichment process and mechanism of Cd in Se-rich soils. 4474 soils and 21 rocks in Lanshan District were sampled to detect its enrichment process. The surface soils have Cd concentrations of 0.01-9.41 mg·kg-1 (an average of 0.16 mg·kg-1). The soil Cd concentrations were significantly correlated with soil Se concentrations. The relatively higher-Cd surface soils are distributed in Lower-middle Ordovician carbonate areas with Se-rich soils and Quaternary areas with typical anthropic activities. Surface soils in Ordovician carbonate area have the highest Cd concentrations. Soil Cd concentrations are significantly correlated with sulfophil elements (Zinc (Zn), Copper (Cu), Molybdenum (Mo), Lead (Pb) and Arsenic (As) etc.), Ca (Calcium) concentrations and soil organic carbon (SOC). The soil and rock samples from different geological units also confirmed soil Cd concentrations developing from Ordovician carbonates were higher than those from other rocks. The results indicate the soil Cd concentrations were the complex consequences of bedrock, soil-forming processes and anthropogenic activities. Higher Ca concentrations and more reduction environments result in high-Cd bedrock. CaCO3 leaching and alkaline pH, which are the special soil-forming process of carbonates, enrich Cd in soils. Agricultural and industrial activities also affect soil Cd concentrations. An enrichment model of Cd in Se-rich soils is forwarded.

Finite element analysis of pulse sharpening effect of gyromagnetic nonlinear transmission line based on Landau-Lifshitz-Gilbert equation.

Ferrite-loaded gyromagnetic nonlinear transmission line (GNLTL) provides a possible option to compress an input pulse to a narrower width for its remarkable sharpening effect. However, it is difficult to accurately predict the output of the GNLTL due to the complex interaction between the magnetic moment of ferrite and the bias magnetic field. In this paper, a finite element model of the GNLTL is established based on the Landau-Lifshitz-Gilbert equation to investigate the performance of the GNLTL. To validate this model, a prototype is used for experimental comparison. The result demonstrates good agreement between experiment and simulation. This paper further explores the influence of the bias magnetic field and the length of the GNLTL on the output pulse. Moreover, a method to sharpen the falling edge is proposed based on the reflection and superposition of the GNLTL output. Simulation and experimental results show its effectiveness and feasibility.

Trends and Outcomes in Sepsis Hospitalizations With and Without Acute kidney injury: A Nationwide Inpatient Analysis.

BACKGROUND: Despite rapid advances in treatment, sepsis currently remains a major public health challenge worldwide. Over the past several years, there has been an increase in the clinical incidence of sepsis, as well as an increase in hospitalization rates, which bear the majority of the economic burden associated with sepsis. Sepsis is a public health burden due to the high fatality rates and accompanying morbidity. However, the sepsis-related mortality rates have fallen steadily over the years. One of the most common organs to fail in patients with sepsis is the kidney, and acute kidney injury(AKI) is associated with high mortality rates. This study's primary goal was to assess the impact of AKI on the evolution and outcome of hospitalization of patients with sepsis. METHODS: Adults (≥18 years) hospitalized for sepsis in the United States between 2010 and 2019 were retrospectively analysed using the nationally representative NIS database.Sepsis and acute kidney injury were defined using the codes of the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) and the International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM). RESULTS: Of the 4,258,360 outcomes, 3,946,048 met the inclusion criteria. The prevalence of AKI among sepsis inpatients increased from 39.10% in 2010 to 41% in 2019, but the impact of AKI on mortality declined over time, with in-hospital mortality from AKI among sepsis inpatients decreasing from 26.30% in 2010 to 16.30% in 2019. Hospitalizations linked to AKI were substantially more likely to involve infection sites such as the urinary tract, gastrointestinal tract, and endocarditis. Numerous pathogenic floras, including Escherichia coli [E. coli], Staphylococcus aureus, Streptococcal, Enterococcus, and Pseudomonas, had greater rates among sepsis-related contacts with AKI. Furthermore, compared to hospitalization without comorbid AKI, the median total hospital charges and length of stay days for sepsis hospitalization with comorbid AKI were greater. CONCLUSIONS: With time, patients with sepsis have a higher frequency of AKI and a corresponding decline in mortality.

Early-Stage Fault Diagnosis of Motor Bearing Based on Kurtosis Weighting and Fusion of Current-Vibration Signals.

To solve the problem of a low signal-to-noise ratio of fault signals and the difficulty in effectively and accurately identifying the fault state in the early stage of motor bearing fault occurrence, this paper proposes an early fault diagnosis method for bearings based on the Differential Local Mean Decomposition (DLMD) and fusion of current-vibration signals. This method uses DLMD to decompose the current signal and vibration signal, respectively, and weights the decomposed product function (PF) according to the kurtosis value to reconstruct the signal, and then fuses the reconstructed signals to obtain the current-vibration fusion signal after normalization, and then analyzes the fusion signal spectrally through the Hilbert envelope spectrum. Finally, the fusion signal is analyzed by the Hilbert envelope spectrum, and a clear fault characteristic frequency is obtained. The experimental results demonstrate that compared to traditional bearing fault diagnosis methods, the proposed method significantly improves the signal-to-noise ratio of fault signals, effectively enhances the sensitivity of early-stage fault detection in motor bearings, and improves the accuracy of fault identification.

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

BACKGROUND: TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and location of the TTN variants. METHODS: Whole-exome sequencing was performed on three unrelated families presenting with fetal akinesia deformation sequence (FADS), mainly characterized by reduced fetal movements and limb contractures. Sanger sequencing was performed to confirm the variants. RT-PCR analysis was performed. RESULTS: TTN c.38,876-2 A > C, a meta transcript-only variant, with a second pathogenic or likely pathogenic variant in trans, was observed in five affected fetuses from the three families. Sanger sequencing showed that all the fetal variants were inherited from the parents. RT-PCR analysis showed two kinds of abnormal splicing, including intron 199 extension and skipping of 8 bases. CONCLUSIONS: Here we report on three unrelated families presenting with FADS caused by four TTN variants. In addition, our study demonstrates that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner.

NHH promotes Sepsis-associated Encephalopathy with the expression of AQP4 in astrocytes through the gut-brain Axis.

Sepsis-associated encephalopathy (SAE) is a significant cause of mortality in patients with sepsis. Despite extensive research, its exact cause remains unclear. Our previous research indicated a relationship between non-hepatic hyperammonemia (NHH) and SAE. This study aimed to investigate the relationship between NHH and SAE and the potential mechanisms causing cognitive impairment. In the in vivo experimental results, there were no significant abnormalities in the livers of mice with moderate cecal ligation and perforation (CLP); however, ammonia levels were elevated in the hippocampal tissue and serum. The ELISA study suggest that fecal microbiota transplantation in CLP mice can reduce ammonia levels. Reduction in ammonia levels improved cognitive dysfunction and neurological impairment in CLP mice through behavioral, neuroimaging, and molecular biology studies. Further studies have shown that ammonia enters the brain to regulate the expression of aquaporins-4 (AQP4) in astrocytes, which may be the mechanism underlying brain dysfunction in CLP mice. The results of the in vitro experiments showed that ammonia up-regulated AQP4 expression in astrocytes, resulting in astrocyte damage. The results of this study suggest that ammonia up-regulates astrocyte AQP4 expression through the gut-brain axis, which may be a potential mechanism for the occurrence of SAE.

Highly bifunctional Rh2P on N,P-codoped carbon for hydrazine oxidation assisted energy-saving hydrogen production.

Highly pure Rh2P nanoparticles on N,P-codoped carbon were synthesized by a simple "mix-and-pyrolyze" method using one kind of low-cost nucleotide as the carbon, nitrogen and phosphorus source, which exhibits excellent bifunctional activity for the hydrogen reduction and hydrazine oxidation reactions, achieving energy-efficient hydrogen production.