Cardiac function evaluation in children with spinal muscular atrophy: A case-control study.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons, resulting in progressive muscle weakness and atrophy. However, little is known regarding the cardiac function of children with SMA. METHODS: We recruited SMA patients younger than 18 years of age from January 1, 2022, to April 1, 2022, in the First Affiliated Hospital of Sun Yat-sen University. All patients underwent a comprehensive cardiac evaluation before treatment, including history taking, physical examination, blood tests of cardiac biomarkers, assessment of echocardiography and electrocardiogram. Age/gender-matched healthy volunteers were recruited as controls. RESULTS: A total of 36 SMA patients (26 with SMA type 2 and 10 with SMA type 3) and 40 controls were enrolled in the study. No patient was clinically diagnosed with heart failure. Blood tests showed elevated values of creatine kinase isoenzyme M and isoenzyme B (CK-MB) mass and high-sensitivity cardiac troponin T (hs-cTnT) in spinal muscular atrophy (SMA) patients. Regarding echocardiographic parameters, SMA children were detected with lower global left and right ventricular longitudinal strain, abnormal diastolic filling velocities of trans-mitral and trans-tricuspid flow. The results revealed no clinical heart dysfunction in SMA patients, but subclinical ventricular dysfunction was seen in SMA children including the diastolic function and myocardial performance. Some patients presented with elevated heart rate and abnormal echogenicity of aortic valve or wall. Among these SMA patients, seven patients (19.4%) had scoliosis. The Cobb's angles showed a significant negative correlation with LVEDd/BSA, but no correlation with other parameters, suggesting that mild scoliosis did not lead to significant cardiac dysfunction. CONCLUSIONS: Our findings warrant increased attention to the cardiac status and highlight the need to investigate cardiac interventions in SMA children.

Self-assembled high polypyrrole loading flexible paper-based electrodes for high-performance supercapacitors.

Despite the intriguing features of freestanding flexible electronic devices, such as their binder-free nature and cost-effectiveness, the limited loading capacity of active material poses a challenge to achieving practical high-performance flexible electrodes. We propose a novel approach that integrates multiple self-assembly and in-situ polymerization techniques to fabricate a high-loading paper-based flexible electrode (MXene/Polypyrrole/Paper) with exceptional areal capacitance. The approach enables polypyrrole to form a porous conductive network structure on the surface of paper fiber through MXene grafting via hydrogen bonding and electrostatic interaction, resulting in an exceptionally high polypyrrole loading of 10.0 mg/cm2 and a conductivity of 2.03 S/cm. Moreover, MXene-modified polypyrrole paper exhibits a more homogeneous pore size distribution ranging from 5 to 50 µm and an increased specific surface area of 3.11 m2/g. Additionally, we have optimized in-situ polymerization cycles for paper-based supercapacitors, resulting in a remarkable areal capacitance of 2316 mF/cm2 (at 2 mA/cm2). The capacitance retention rate and conductivity rate maintain over 90 % after undergoing 100 bends.The maximum energy density and cycling stability are characterized to be 83.6 µWh/cm2 and up to 96 % retention after 10,000 cycles. These results significantly outperform those previously reported for paper-based counterparts. Overall, our work presents a facile and versatile strategy for assembling high-loading, paper-based flexible supercapacitors network architecture that can be employed in developing large-scale energy storage devices.

Intercross population study reveals that co-mutation of mitfa genes in two subgenomes induces red skin color in common carp ( Cyprinus carpio wuyuanensis).

Common carp are among the oldest domesticated fish in the world. As such, there are many food and ornamental carp strains with abundant phenotypic variations due to natural and artificial selection. Hebao red carp (HB, Cyprinus carpio wuyuanensis), an indigenous strain in China, is renowned for its unique body morphology and reddish skin. To reveal the genetic basis underlying the distinct skin color of HB, we constructed an improved high-fidelity (HiFi) HB genome with good contiguity, completeness, and correctness. Genome structure comparison was conducted between HB and a representative wild strain, Yellow River carp (YR, C. carpio haematopterus), to identify structural variants and genes under positive selection. Signatures of artificial selection during domestication were identified in HB and YR populations, while phenotype mapping was performed in a segregating population generated by HB×YR crosses. Body color in HB was associated with regions with fixed mutations. The simultaneous mutation and superposition of a pair of homologous genes ( mitfa) in chromosomes A06 and B06 conferred the reddish color in domesticated HB. Transcriptome analysis of common carp with different alleles of the mitfa mutation confirmed that gene duplication can buffer the deleterious effects of mutation in allotetraploids. This study provides new insights into genotype-phenotype associations in allotetraploid species and lays a foundation for future breeding of common carp.

Chromosome-level haplotype-resolved genome assembly for Takifugu ocellatus using PacBio and Hi-C technologies.

Takifugu species serve as a model system for evolutionary studies due to their compact genomes and diverse phenotypes. The ocellated puffer (Takifugu ocellatus), characterized by special colouration, is a scarce anadromous species in the genus Takifugu. As an ornamental and tasty fish species, T. ocellatus has moderate economic value. However, the available genomic resources for this pufferfish are still limited. Here, a chromosome-level reference genome, as well as two haploid genomes, was constructed by PacBio HiFi long sequencing and Hi-C technologies. The total length of the reference genome was 375.62 Mb with a contig N50 of 11.55 Mb. The assembled sequences were anchored to 22 chromosomes with an integration efficiency of 93.78%. Furthermore, 28,808 protein-coding genes were predicted. The haplotype-resolved reference genome of T. ocellatus provides a crucial resource for investigating the explosive speciation of the Takifugu genus, such as elucidating evolutionary histories, determining the genetic basis of trait evolution, and supporting future conservation efforts.

Difference analysis of different parts of chicory based on HPLC fingerprint and multi-component content determination.

Objective: To establish HPLC fingerprints of different parts of chicory stems, leaves, roots, flowers and seeds, and compare the similarities and differences of chemical components in different parts, so as to provide a scientific basis for the comprehensive utilization of chicory. Methods: To establish the HPLC fingerprint of chicory, the chromatographic column was chosen with Agilent ZORBAX Eclipse XDB-C18, the mobile phase was methanol (A) - 0.2% formic acid (B), the flow rate was 1 mL/min, the column temperature was 30 °C, and the detection wavelength was 254 nm. The Similarity Evaluation System of Chromatographic Fingerprint of Traditional Chinese Medicine (2012 Edition) was used to evaluate the similarity of different parts of decoction pieces, and the determination method of multi-component content was established based on fingerprint identification chromatographic peaks, and the determination results were analyzed. Results: The HPLC fingerprinting method of chicory was established. Sixteen chromatographic peaks were identified and 10 of them were identified as: caftaric acid (1), esculin (2), chlorogenic acid (3), esculetin (4), caffeic acid (5), cichoric acid (8), hyperoside (11), rutin (12), isochlorogenic acid C (14) and luteolin (16). The similarity of different parts was 0.084-0.701. At the same time, the total content of detected chemical components was ranked as flower > leaf > stem > root > seed. Roots did not contain caftaric acid, rutin, and luteolin, flowers did not contain luteolin, and seeds did not contain caftaric acid, cichoric acid, and luteolin. The content of cichoric acid in leaves was the most, and esculin in flowers was the most. Conclusion: The results of HPLC fingerprint and multi-component content determination revealed the similarity and difference of different parts of chicory from chemical composition, indicating that there were certain differences in different parts of chicory. The established HPLC fingerprinting method can provide a reference for quality control and evaluation of different parts of the chicory.

Disruption of mstn Gene by CRISPR/Cas9 in Large Yellow Croaker (Larimichthys crocea).

The large yellow croaker (Larimichthys crocea) plays an economically vital role in the marine aquaculture in China. Suffering from infection of bacteria and protozoon, effect of extreme weather and stress from high-density farming, genome editing is thought to be an important tool applied to L. croea for enhancing commercial traits such as growth rate, disease resistance, and nutrition component. In this study, we identified two mstn genes in L. croea and investigated the different phylogenetic clades, gene structures, and conserved syntenic relationships. To obtain fast-growing large yellow croaker, we specially selected two validated targets for mstnb knockout, which was homologous to mammalian myostatin gene (MSTN) and downregulated skeletal muscle growth and development. Five significant mutation types were generated in two mosaic mutants by transferring specific CRISPR/Cas9 RNPs (ribonucleoprotein) into the one-cell fertilized embryos based on CRISPR/Cas9 technology. Subsequently, we also elucidated the obstacles and possible measures to improve the success rate of inducing modified large yellow croaker. Our results would provide valuable method and reference for facilitating genome editing programs of the large yellow croaker in the future.

Fabrication of litchi-like lignin/zinc oxide composites with enhanced antibacterial activity and their application in polyurethane films.

Lignin has been demonstrated to be green and effective for the modification of ZnO-based materials. In this work, quaternized lignin/zinc oxide nanostructured hybrid composites (QLS/ZnO NCs) were synthesized with good dispersion and uniform particle size via a facile hydrothermal method. Sodium lignosulfonate (LS) was modified by quaternization to endow the positive charges, which effectively captured bacteria due to the electrostatic interactions. Interestingly, QLS/ZnO NCs show a litchi-like morphology consisting of nanorods with diameters of 5-10 nm, which further resulted in damage to the bacterial cell membrane. Owing to the surface charge and rough surface topology for bacterial capture, QLS/ZnO NCs exhibited greatly enhanced antibacterial activity compared with bare ZnO. After being treated with QLS/ZnO NCs for 90 min, the sterilization rates of Escherichia coli (E. coli) and Staphylococcus aureus (S. aureus) reached 97.54% and 99.55%, respectively. Due to the reactive oxygen species (ROS) produced by ZnO under light irradiation, the antibacterial activity of QLS/ZnO NCs could be further enhanced. In addition, the minimal inhibition concentrations (MICs) of QLS/ZnO NCs towards E. coli and S. aureus were both 100 µg/mL, and the minimum bactericidal concentrations (MBCs) were 100 µg/mL and 200 µg/mL, respectively. Moreover, with the incorporation of QLS/ZnO NCs into polyurethane films, the composite films showed excellent antibacterial activity, strong tensile strength and enhanced ultraviolet light blocking performance.

[Shikimic acid extracted from Chaenomeles speciosa reduces chondrocyte differentiation by inhibiting RBL-2H3 cell degranulation].

Objective To investigate the reducing effects of shikimic acid from the total extract of Chaenomeles speciose on the differentiation of chondrocytes into hypertrophic chondrocytes by inhibiting RBL-2H3 cell degranulation. Methods The chondrocytes were identified by toluidine blue staining and tryptase immunohistochemical staining. The chondrocytes were divided into normal chondrocytes control group, C48/80 activated RBL-2H3 cell culture supernatant treatment group, 3, 10 and 30 µg/mL SA activated RBL-2H3 cell culture supernatant treatment groups. The toxicity of SA and RBL-2H3 cell supernatant were detected by MTT assay. Western blotting was used to detect the expression of collagen type II (Col2) and collagen type X (Col10) in chondrocytes. The levels of matrix metalloproteinase 13 (MMP13), soluble nuclear factor B receptor activated protein ligand (sRANKL) and bone protective factor (OPG) were determined by ELISA, and glycosaminoglycan polysaccharide (GAG) were tested by dimethylmethylene blue (DMB) colorimetry. Results (0~30) µg/mL SA had no significant effects on the growth of chondrocytes. Compared with the C48/80 activated RBI-2H3 cell supernatant treatment group, the expression of Col2 and GAG proteins increased significantly, while the expression of Col10 and MMP13 and the ratio of sRANKL/OPG decreased significantly in the SA treatment groups in a dose-dependent manner. Conclusion SA can effectively reduce the differentiation of chondrocytes into hypertrophic chondrocytes by inhibiting RBL-2H3 cell degranulation.

Gas chromatographic-ion mobility spectrometry combined with a multivariate analysis model exploring the characteristic changes of odor components during the processing of black sesame.

Black sesame (Sesamum indicum L.) is a Chinese dietary herb that has been widely used in the medical and healthcare fields in China. According to the theory of Traditional Chinese medicine processing, reasonable processing (steaming and drying many times) can increase the tonic effect and reduce the adverse factors generated during long-term use. At present, the processing degree of black sesame is mainly judged based on subjective experience. However, due to the lack of objective and quantitative control indicators, quality fluctuations easily occur. Therefore, for better application, its processing technology needs scientific monitoring methods. Herein a gas chromatography-ion mobility spectrometry (GC-IMS) technique was applied as a monitoring method to differentiate the processed products of black sesame in different processing stages. The response data of volatile components obtained from the samples were processed by the built-in data processing software in the instrument to identify the different components for further principal component analysis (PCA) and orthogonal partial least squares discriminant analysis (OPLS-DA). From fingerprint comparison, 70 differential signal peaks were screened, 32 of which were qualitatively identified, mainly monomers and dimers of 20 compounds. On this basis, the PCA model shows that there was a significant difference between the raw product (S1) and the processed products (H1-9); moreover, there was a certain correlation between the differential changes of samples in different processing stages (H1-9) and the processing times. The OPLS-DA model specifically shows the differential components in the processing with potential characteristics peaks of 41, 105, n-nonanal, 2 and ethanol can discriminate whether the BS has undergone the first processed. And the dynamic changes of the three characteristic peaks of 1-hexanol, acetic acid and 107 can determine the specific degree of processing of BS. The research proves that GC-IMS combined with a multivariate analysis model can provide scientific data for identifying the characteristic odor components of black sesame.

[Transformation and attribution of drug properties in Galla Chinesis fermented Baiyaojian based on cold and heat syndrome rats].

To reveal the transformation and attribution of drug properties in Galla Chinesis fermented Baiyaojian by studying the effect of Galla Chinesis and Baiyaojian on cold and heat syndrome rats. Euthyrox was used to induce the hyperthyrosis model,ice water stimulation was used to induce the cold syndrome model,and different concentrations of Galla Chinesis and Baiyaojian water decoction were administrated by gavage for 15 d continuously. Symptom indexes were evaluated,content of pyruvic acid( PA),ATPase activity in liver and contents of DA,T4,cAMP,5-HT,NE,17-OHCS,TRH and TSH in serum were assayed by enzyme linked immunosorbent assay and spectrophotometry. The rectal temperature,water consumption and body weight of heat syndrome rats in model group were increased,cAMP,NE,17-OHCS,TRH and PA were increased,TSH,Na-K ATPase and Ca-Mg ATPase were increased significantly( P<0. 01),while 5-HT was decreased,compared with those of the blank group( P< 0. 05),the contents of T4,DA,NE,TSH,TRH,cAMP and 17-OHCS were decreased significantly( P<0. 01),PA and Ca-Mg ATPase in WG and BG groups were decreased compared with those of the model group( P<0. 05),and the Galla Chinesis content of WG group was lower than that of BG group,while the contents of 5-HT in WG and BG groups were increased,and the Galla Chinesis content of WG group was higher than that of BG group,with no significant difference of viscera index between heat syndrome rats in blank group,model group and drug groups. The rectal temperature,water consumption and body weight of cold syndrome rats in model group were decreased,DA,T4,cAMP,NE,17-OHCS,TRH,TSH,PA,Na-K ATPase and Ca-Mg ATPase of rats in model group were decreased,whereas 5-HT was increased compared with those of the blank group( P<0. 05),the indexes of heart,lung and kidney were significantly higher than those in the blank group( P<0. 05). Both Galla Chinesis and Baiyaojian can significantly alleviate the symptoms of heat syndrome rats caused by levothyroxine sodium. Galla Chinesis has a better effect than Baiyaojian,but cannot alleviate the symptoms of cold syndrome caused by ice water stimulation,suggestting that the decoction of Galla Chinesis and Baiyaojian are both cold,but Galla Chinesis is colder than Baiyaojian. Cold property in Galla Chinesis fermented Baiyaojian can be relieved. In clinical application,the property of " slight cold" is more accurate than " neutral property" for Baiyaojian.