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BackgroundBiomarkers can be used to assess the severity of spinal muscular atrophy (5q SMA; SMA). Despite their potential, the relationship between biomarkers and clinical outcomes in SMA remains underexplored. This study aimed to assess the association among biomarkers, phenotypes, and motor milestones in Chinese patients diagnosed with SMA.MethodsWe collected retrospective clinical and follow-up data of disease-modifying therapy (DMT)-naïve patients with SMA at our center from 2019 to 2021. Four biomarkers were included: survival motor neuron 2 (SMN2) copies, neuronal apoptosis inhibitory protein (NAIP) copies, full-length SMN2 (fl-SMN2), and F-actin bundling protein plastin 3 (PLS3) transcript levels. Data were analyzed and stratified according to SMA subtype.ResultsOf the 123 patients, 30 were diagnosed with Type 1 (24.3%), 56 with Type 2 (45.5%), and 37 with Type 3 (30.1%). The mortality rate for Type 1 was 50%, with median survival times of 2 and 8 months for types 1a and 1b, respectively. All four biomarkers were correlated with disease severity. Notably, fl-SMN2 transcript levels increased with SMN2 copies and were higher in Type 2b than those in Type 2a (p = 0.028). Motor milestone deterioration was correlated with SMN2 copies, NAIP copies, and fl-SMN2 levels, while PLS3 levels were correlated with standing and walking function.DiscussionOur findings suggest that SMN2 copies contribute to survival and that fl-SMN2 may serve as a valuable biomarker for phenotypic variability in SMA Type 2 subtypes. These insights can guide future research and clinical management of SMA.

BackgroundTo explore the clinical characteristics, etiological factors, and clinical-related genetic variant of children with acute necrotizing encephalopathy (ANE) related to the Omicron BF.7.14 novel coronavirus.MethodsGenomic variations were detected through whole exome sequencing. Additionally, we summarized the clinical data to explore the inheritance patterns associated with novel coronavirus-related ANE.ResultsThis study included four patients (2 males and 2 females) with an average age of 2.78 ± 1.93 years. All the patients had prodromal symptoms of Omicron BF.7.14 virus infection, and exhibited symptoms such as altered consciousness, seizures and cognitive/language disturbances. Cranial MRI scans revealed damage to the thalamus, basal ganglia and brainstem. The cerebrospinal fluid (CSF) cell counts were nearly normal, but protein level in CSF increased significantly. Genetic analysis revealed a novel truncated variant of CRMP2 gene in one patient who suffered more severe coma score and prognosis and dead in the later stages. All children exhibited a decrease in the absolute count of T lymphocytes, helper T cells, suppressor T cells, and NK cells to varying degrees. Furthermore, levels of cytokines, including IL-1 β, IL-5, IL-6 and IL-8 were significantly elevated in the CSF, especially in patient with truncated variant of CRMP2 gene.ConclusionThe Omicron BF.7.14 type novel coronavirus can lead to ANE, characterized by T cell immunosuppression and a significant increase in cytokine levels in the CSF. The truncated variation of CRMP2 gene may affect the prognosis of ANE by affecting the migration of cerebral T cells.

Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018. However, clinicians should remain alert to some pitfalls of genetic testing that can occur when following a routine diagnosis. In this study, we report the diagnosis of three unrelated individuals who were initially misdiagnosed as carrying a homozygous deletion of SMN1 exon 7. MLPA (P060 and P021) and qPCR were used to detect the copy number of SMN. SMN1 variants were identified by SMN1 clone and next-generation sequencing (NGS). Transcription of SMN1 variants was detected using qRT-PCR and ex vivo splicing analysis. Among the three individuals, one was identified as a patient with SMA carrying a heterozygous deletion and a pathogenic variant (c.835-17_835-14delCTTT) of SMN1, one was a healthy carrier only carrying a heterozygous deletion of SMN1 exon 7, and the third was a patient with nemaline myopathy 2 carrying a heterozygous deletion of SMN1 exon 7. The misdiagnosis of these individuals was attributed to the presence of the c.835-17_835-14delCTTT or c.835-17C > G variants in SMN1 intron 6, which affect the amplification of SMN1 exon 7 during MLPA-P060 and qPCR testing. However, MLPA-P021 and NGS analyses were unaffected by these variants. These results support that additional detection methods should be employed in cases where the SMN1 copy number is ambiguous to minimize the misdiagnosis of SMA.

With the global energy transformation towards to a 100% renewable-based power system, the installed capacity of renewable energy generation has continued to grow rapidly in recent years. At the same time, due to the loss of synchronous machines, the grid-connected large-scale renewable energy bring great challenges to the safe and stable operation of power grid. In order to improve the stability of power grid, different synchronous wind turbine have widely attracted the attention of academia and industry. That is totally different on transient stability of vector synchronous wind turbine and self-synchronous wind turbine, and the fault ride through (FRT) control strategy is also different. Thus, the transient stability and FRT technologies of vector synchronous wind turbine and self-synchronous wind turbine are studied separately. There are many solutions for the FRT of vector synchronous wind turbine from different technical schemes. According to the different scope of application and implementation methods, it can be roughly divided into two categories: software improvement and hardware addition. Different FRT strategy of self-synchronous wind turbine are used under a smaller grid fault and serious grid fault, self-synchronous wind turbine recalculate the voltage and phase angle of the potential in the converter according to the PCC voltage, PCC phase angle, reactive power demand and residual active capacity under a smaller grid fault. When there is serious grid fault, the vector control and self-synchronous control modes switching FRT strategy is necessary.

In this paper, we establish and study a novel predator–prey model that incorporates: (i) the migration of prey between breeding and non-breeding regions; (ii) the refuge effect of prey; and (iii) the reduction in prey pulse birth rate, in the form of a fear effect, in the presence of predators. Applying the Floquet theory and the comparison theorem of impulsive differential equations, we obtain the sufficient conditions for the stability of the prey-extinction periodic solution and the permanence of the system. Furthermore, we also study the case where the prey population does not migrate. Sufficient conditions for the stability of the prey-extinction periodic solution and the permanence are also established, and the threshold for extinction and permanence of the prey population is obtained. Finally, some numerical simulations are provided to verify the theoretical results. These results provide a theoretical foundation for the conservation of biodiversity.

The welding of steel–aluminum dissimilar metals plays a vital role in promoting automobile lightweight. However, it is tricky to obtain good mechanical properties of steel–aluminum laser weldments. Based on the principle of preheating welding, the laser double-pass reciprocating welding method of steel–aluminum dissimilar metals was proposed. In the experiment, different weld spacing such as 0, 0.5, 1.0, 1.5, and 2.0 mm were set, and numerical calculations of the temperature field of the molten pool were carried out. The results show that the tensile strength of weldment depends on the mechanical properties of the second weld seam in the optimal welding parameters. Compared with other weld spacing, when the weld spacing is 1.5 mm, the preheating temperature, peak temperature, and pool width on the steel side of the second weld are lower. In contrast, the weld penetration’s peak value and molten pool center’s temperature reach the maximum on the aluminum side. The thickness of the steel/aluminum transition layer changed from 14 to 11 to 8 μm with increased weld spacing. Moreover, the fracture mode of the second weld is a ductile fracture. Furthermore, the average tensile strength can reach 76.84 MPa. The results show that appropriate weld spacing and preheating temperature can effectively improve the tensile strength of the welding joint.

Sina Weibo has significantly impact on the information diffusion processes in many real-world social events. A large number of active users on Sina Weibo not only push the opinion diffusion, but also increase the influence abilities of events which conversely attracted much attentions of users to follow them. How to effectively track the event attention of users is one of the most important channels to get the public opinions. In order to predict the event attention more accurately, motivated by observations of social events’ influence concerning with users and microblogs, we quantify the user popularity from the four dimensions: the user activity, the user behavior, the user authenticity and the user infection ability. And the non-collinearity of these four dimensions is tested to ensure the comprehensiveness and non-redundancy of the evaluation. Then, combining with the logic framework of Hidden Markov Model, we propose an algorithm to predict the Weibo event attention by using the user popularity. Meanwhile, in order to better detect the performance of the prediction algorithm, we integrate the static and dynamic information of microblog content to directly quantify the current Weibo event attention as a benchmark, and the performance of four prediction algorithms (including our algorithm) is tested with six real data sets which are chosen from the popular events in China from 2019 to 2020. Through comparison, we find that the user popularity can be used to predict the event attention, and the Hidden Markov Model prediction method by using the user popularity shows good prediction performance.

Liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the most commonly used method for sulfonamide determination. Its accuracy, however, can be affected by many factors. In this study, sulfadiazine (SDZ), sulfadimidine (SMZ), and sulfadimethoxine (SDM) in milk were selected to investigate an accurate determination method and the potential influencing factors in the use of ultrahigh-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS). Milk samples were extracted by 25 mL perchloric acid solution (pH = 2) and cleaned up using HLB solid-phase extraction (SPE) cartridges. Four kinds of filters, including PTFE, GHP, nylon, and glass fiber, were compared, and PTFE was selected since it had the best recoveries of target sulfonamides (SAs). Three quantitative methods, including external standard (ES), matrix matching (MM), and isotope dilution mass spectrometry (IDMS), were compared, among which IDMS exhibited the best accuracy. The matrix effect under different mobile phase compositions and of different sample matrices were evaluated and discussed. Ion suppression effects were observed during the determination of all SAs, which got stronger with the increase of the methanol composition percent in the mobile phase. After correction by IDMS, the matrix effect could be neglected. Matrix spiked recoveries at three spiked levels (1 μg/kg, 10 μg/kg, and 20 μg/kg) ranged from 96.8% to 103.8% by IDMS. The expanded relative uncertainties were in the range of 2.02% to 5.75%. The method exhibited wide application range, high accuracy, good stability, and high sensitivity.

Microbially induced carbonate precipitation (MICP) is a promising technology for solidifying sandy soil, ground improvement, repairing concrete cracks, and remediation of polluted land. By solidifying sand into soil capable of growing shrubs, MICP can facilitate peak and neutralization of CO2 emissions because each square meter of shrub can absorb 253.1 grams of CO2 per year. In this paper, based on the critical review of the microbial sources of solidified sandy soil, models used to predict the process of sand solidification and factors controlling the MICP process, current problems in microbial sand solidification are analyzed and future research directions, ideas and suggestions for the further study and application of MICP are provided. The following topics are considered worthy of study: (1) MICP methods for evenly distributing CaCO3 deposit; (2) minimizing NH4+ production during MICP; (3) mixed fermentation and interaction of internal and exogenous urea-producing bacteria; (4) MICP technology for field application under harsh conditions; (5) a hybrid solidification method by combining MICP with traditional sand barrier and chemical sand consolidation; and (6) numerical model to simulate the erosion resistance of sand treated by MICP.

Abstract The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle–eye–brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of three MEB patients with POMGNT1 mutations. One female and two male patients from three unrelated families were diagnosed with MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, and ocular malformations. The novel missense mutations c.296 T > C and c.794 G > C were revealed in patient 2 and patient 3 respectively by next-generation sequencing (NGS). Further NGS data analysis revealed that all three patients had the same novel copy number variations (CNV) g.6668-8257del, which was homozygous in patient 1 and heterozygous in patients 2 and 3. By long-range polymerase chain reaction (PCR) and Sanger sequencing, it was shown that the two breakpoints of the CNV localized to two AluY elements and displayed 42-bp of microhomology. The CNV was confirmed as a founder mutation by haplotype analysis. Our study indicated that NGS is a clinically useful method of detecting α-DGPs genes -related CNV, and the CNV is likely to be caused by Alu-Alu recombination or from a single ancestor bearing the deletion chromosome.

About one million hectares of plantation hardwoods, mostly eucalyptus trees of different sub-species (E. nitens and E. globulus), are annually being managed in Australia, which provides a promising resource of raw materials for fibre industries. However, the timber boards required by the Australian hardwood sector are still being either imported from other countries or harvested from the native forests. There is a need to find a practical way to use the plantation eucalyptus in the Australian timber industry. However, the fibre-managed plantation eucalyptus produces structurally low-grade timber which could not be used as individual boards for structural applications—such as building construction. Unsuitable for appearance applications, the structurally low-grade boards may be suitable for producing innovative high-mass engineered timber products. This editorial will briefly discuss drivers, opportunities, and challenges associated with conducting such a research project.

The use of fast-growing plantation eucalypt (i.e., pulpwood eucalypt) in the construction of high-value structural products has received special attention from the timber industry in Australia and worldwide. There is still, however, a significant lack of knowledge regarding the physical and mechanical properties of the lumber from such plantation resources as they are mainly being managed to produce woodchips. In this study, the physical and mechanical properties of lumber from a 16-year-old pulpwood Eucalyptus nitens H.Deane & Maiden resource from the northeast of Tasmania, Australia was evaluated. The tests were conducted on 318 small wood samples obtained from different logs harvested from the study site. The tested mechanical properties included bending modulus of elasticity (10,377.7 MPa) and modulus of rupture (53 MPa), shear strength parallel (5.5 MPa) and perpendicular to the grain (8.5 MPa), compressive strength parallel (42.8 MPa) and perpendicular to the grain (4.1 MPa), tensile strength perpendicular to the grain (3.4 MPa), impact bending (23.6 J/cm2), cleavage (1.6 kN) and Janka hardness (23.2 MPa). Simple linear regression models were developed using density and moisture content to predict the mechanical properties. The variations in the moisture content after conventional kiln drying within randomly selected samples in each test treatment were not high enough to significantly influence the mechanical properties. A relatively high variation in the density values was observed that showed significant correlations with the changes in the mechanical properties. The presence of knots increased the shear strength both parallel and perpendicular to the grain and significantly decreased the tensile strength of the lumber. The results of this study created a profile of material properties for the pulpwood E. nitens lumber that can be used for numerical modelling of any potential structural product from such a plantation resource.

To explore the clinical value of low-dose prospectively electrocardiogram-gated axial dual-source CT angiography (low-dose PGA scanning, CTA) in patients with pulsatile bilateral bidirectional Glenn shunt (bBDG) as an alternative noninvasive method for postoperative morphological estimation.Twenty patients with pulsatile bBDG (mean age 4.2±1.6 years) underwent both low-dose PGA scanning and conventional cardiac angiography (CCA) for the morphological changes. The morphological evaluation included the anatomy of superior vena cava (SVC) and pulmonary artery (PA), the anastomotic location, thrombosis, aorto-pulmonary collateral circulation, pulmonary arteriovenous malformations, etc. Objective and subjective image quality was assessed. Bland-Altman analysis and linear regression analyses were used to evaluate the correlation on measurements between CTA and CCA. Effective radiation dose of both modalities was calculated.The CT attenuation value of bilateral SVC and PA was higher than 300 HU. The average subjective image quality score was 4.05±0.69. The morphology of bilateral SVC and PA was displayed completely and intuitively by CTA images. There were 24 SVC above PA and 15 SVC beside PA. Thrombosis was found in 1 patient. Collateral vessels were detected in 13 patients. No pulmonary arteriovenous malformation was found in our study. A strong correlation (R2>0.8, P0).The mean effective dose of CTA and CCA was 0.50±0.17 mSv and 4.85±1.34 mSv respectively.CT angiography with a low-dose PGA scanning is an accurate and reliable noninvasive examination in the assessment of morphological changes in patients with pulsatile bBDG.

OBJECTIVES: To assess the feasibility of low-dose prospective ECG-gated dual-source CT (DSCT) in detecting airway anomalies in pediatric patients with cardiovascular anomalies compared with flexible tracheobronchoscopy (FTB). METHODS: 33 pediatrics with respiratory symptoms who had been revealed cardiovascular anomalies by transthoracic echocardiography underwent FTB and contrast material-enhanced prospective ECG-triggering CT were enrolled. The study was approved by our institution review board and written informed consent was obtained from all patients' guardian. DSCT examinations were performed to detect cardiovascular abnormalities using weight-adjusted low-dose protocol. Two radiologists independently performed CT image analysis. The FTB reports were reviewed by an experienced pulmonologist. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of DSCT in the detection of airway anomalies were assessed. The tracheobronchial stenoses revealed on FTB were graded. Effective radiation dose was calculated. RESULTS: Thirty cases were diagnosed with tracheobronchial narrowing and/or abnormality in 33 patients by FTB, while 3 patients had normal FTB findings. Twenty-eight cases were diagnosed with airway anomalies by CT, of which 27 were correct positive. 3 patients with normal findings at CT had findings of tracheobronchial narrowing due to tracheobronchomalacia at inspiration at FTB. Sensitivity and specificity of CT were 90.0% (95% CI: 72.3%, 97.4%) and 66.7% (95% CI: 12.5 %, 98.2 %), respectively. PPV and NPV were 96.4% (95% CI: 79.8 %, 99.8%) and 40.0% (95% CI: 7.3%, 83.0%), respectively. Overall accuracy of DSCT in detecting airway anomalies in pediatrics with cardiovascular anomalies was 87.9% (95% CI: 74.5%, 97.6%). In grading of tracheobronchial stenosis, images from CT correlated closely (r = 0.89) with those of FTB. Mean effective dose was 0.60 ± 0.20 mSv. CONCLUSION: In pediatric patients, ECG-triggered CT to evaluate congenital cardiovascular anomalies can also be used to diagnose and characterize fixed airway involvement in relation to the vascular structures.

Background: Asparaginase-associated pancreatitis (AAP) is a major challenge for continuing asparaginase therapy. We aimed to investigate the acute and longterm complications and survival rates related to first and second AAP episodes in Chinese children with haematological malignancies. Methods: We retrospectively analysed clinical data of children with pancreatitis who received asparaginase chemotherapy for acute lymphoblastic leukaemia (ALL), acute mixed cell leukaemia, and non-Hodgkin's lymphoma at Shanghai Children's Medical Center from November 2013 to November 2023. Results: Of the 76 children included in the study, 12 had local complications (15.79%), with no deaths recorded. Systemic complications manifested in 28 patients (36.84%), resulting in 3 deaths (3.95%). Four patients (5.26%) developed long-term complications (chronic pancreatitis or insulin-dependent diabetes mellitus). No significant differences in local or long-term complications were recorded between children in the asparaginase re-exposed (n=39) and non-reexposed (n=45) groups. Among the re-exposed patients, eight (25.81%) experienced a second attack without fatalities or complications. Survival analysis of intermediate-to high-risk patients revealed a significantly higher event-free survival (EFS) rate for the re-exposed group than for the non-reexposed group. The second AAP episode's occurrence and severity had no relation to the first AAP episode's severity, and the second AAP episode was significantly less severe than the first (p<0.001). Conclusions: The second AAP episode's occurrence is unrelated to the first AAP episode's severity, and the second AAP episode's severity is significantly lower than that of the first. Further, asparaginase therapy could improve EFS in children with intermediate and high-risk ALL. [ABSTRACT FROM AUTHOR]

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The study was to optimize the extraction process of anthocyanins and investigate their hypoglycemic activity. Through a single factor test and orthogonal test, the extraction technology of anthocyanins was optimized by enzymatic assisted ultrasound with Brassica campestris var. purpuraria peel as the raw material. The results showed that the optimum conditions for extracting anthocyanins from the peel of Brassica campestris var. purpuraria were as follows: Ultrasonic time 40 min, the ratio of liquid to material of 20 mL/g, the ratio of pectinase to cellulase of 3 : 1, pH value of 2.2, and the amount of enzyme addition 2%c. Under these conditions, the content of anthocyanins extracted from Brassica campestris var. purpuraria peel was 7.61 mg/g. The IC50 of anthocyanins on α-amylase and α-glucosidase was 3.32, 6.46 g/L, respectively. At an anthocyanin level of 7.00%, the inhibition rate of anthocyanin on α-amylase was 77.00%. When the anthocyanin level was 8.00%, the inhibition rate of anthocyanin on α-glucosidase was 86.00%. The anthocyanin exhibits a non-competitive inhibition type on both α-amylase and α-glucosidase at these concentrations. The study indicates that the enzymatic assisted ultrasound extraction of anthocyanins from Brassica campestris var. purpuraria peel is an efficient extraction method, which can provide a reference for the production of natural haematochrome and the screening of edible pigment varieties. [ABSTRACT FROM AUTHOR]