Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome

Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300). In MKS, the formation and function of the primary cilium is defective, resulting in a multisystem disorder including occipital encephalocele, polycystic kidneys, postaxial polydactyly, liver fibrosis, central nervous system malformations and genital anomalies. This study aimed to analyze the genotype of MKS patients and investigate the correlation between genotype and phenotype.Methods: A nonconsanguineous couple who conceived four times with a fetus affected by multiorgan dysfunction and intrauterine fetal death was studied. Whole exome sequencing (WES) was performed in the proband to identify the potentially pathogenic variant. Sanger sequencing was performed in family members. In silico tools were used to analyse the pathogenicity of the identified variants. cDNA TA-cloning sequencing was performed to validate the effects of intronic variants on mRNA splicing. Quantitative real-time PCR was performed to investigate the effect of the variants on gene expression. Immunofluorescence was performed to observe pathological changes of the primary cilium in kidney tissue from the proband.Results: Two splice site variants of TMEM231 (NM_001077418.2, c.583-1G>C and c.583-2_588delinsTCCTCCC) were identified in the proband, and the two variants have not been previously reported. The parents were confirmed as carriers. The two variants were predicted to be pathogenic by in silico tools and were classified as pathogenic/likely pathogenic variants according to the American College of Medical Genetics and Genomics guideline. cDNA TA cloning analysis showed that both splice site variants caused a deletion of exon 5. RT-PCR revealed that the expression of TMEM231 was significantly decreased and immunofluorescence showed that the primary cilium was almost absent in the proband’s kidney tissue.Conclusion: We reported the clinical, genetic, molecular and histochemical characterisation of a family affected by MKS. Our findings not only extended the mutation spectrum of the TMEM231 gene, but also revealed for the first time the pathological aetiology of primary cilia in humans and provide a basis for genetic counselling of the parents to their offspring

DYNAMICS CHARACTERISTIC RESEARCH ON IMPACT STRENGTH AND CUSHION OF RUBBER PART

Fatigue life and cushion performance were both the core concepts for hand-held impact tools design. A research on dynamic performance of air nailer has been carried out base on impact stiffness theory and hyperelastic materials. Simualtion and test results show that dynamic method can accurately describe cushion in impact tool,it can also solve main problem in buffer research and development

Thermo-mechanical Densification of Populus tomentosa var. tomentosa with Low Moisture Content

This study used thermo-mechanical densification technology to compress low-moisture content (3~5%) rapid-growth Populus tomentosa var. tomentosa trees to produce specimens with a low-compression ratio (small volume loss) and a uniform density profile and desirable properties. Furthermore, the densified specimens were subjected to post-heat treatment at 180, 190, and 200 °C for 2, 3, and 4 h, respectively. Microscopic examination was performed to observe the changes that occurred in the wood vessels after densification. To determine the influence of post-heat treatment on the set recovery, the specimens were subjected to eight cycles of soaking and drying in 20 °C water and two cycles in boiling water. The density profile tendencies of the densified specimens were in accord with undensified specimens. Microscopic observation revealed that the deformations present in the densified wood resulted from the viscous buckling of cell walls without fracture. The volume of the void areas in the specimens decreased uniformly. Post-heat treatment can decrease compressive deformation, especially when applied at 200 °C for 4 h. After two boiling water cycles of soaking and drying, the densified wood still had a certain set recovery. Therefore, densified wood should be used sparingly in high temperature and high humidity environments

A Systematic Review of Symptom Assessment Tools for Patients with Heart Failure

Background There are many tools for symptom assessment of patients with heart failure, but there is a lack of standardized evaluation studies on the quality of such tools, which brings difficulties to the selection of tools. Objective To evaluate the measurement property and methodological quality of symptom assessment tools in patients with heart failure, and to provide reference for relevant personnel to choose symptom assessment tools. Methods The Chinese and English databases such as PubMed, Embase, and CNKI were searched for relevant studies from the date of library construction to July 30, 2023. The Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN) guideline was employed to evaluate the scale and form recommendations. Results Eleven studies were included for quality assessment, including eight tools for assessing symptoms in patients with heart failure: Chinese version of Memorial Symptom Assessment Scale Heart Failure (MSAS-HF), Heart Failure Somatic Perception Scale (HF-SPS), M.D.Anderson Symptom Inventory Heart Failure (MDASI-HF), Symptom Status Questionnaire Heart Failure (SSQ-HF), Shortness of Breath in Heart Failure Instrument (SOB-HF), Minnesota Living with Heart Failure Questionnaire (MLHFQ), Chronic Heart Failure Assessment Tool (CHAT) and Kansas City Cardiomyopathy Questionnaire (KCCQ). Regarding the measurement property, scales such as Chinese version of MSAS-HF, MDASI-HF, MLHFQ, and KCCQ were demonstrated a "sufficient" level of content validity. Conversely, HF-SPS, SSQ-HF, and SOB-HF were exhibited an "uncertain" level of content validity, while CHAT was categorized as having "insufficient" content validity. Finally, Chinese version of MSAS-HF and MLHFQ were recommended as level A, and the other six scales were recommended as level B. Conclusion Certainly, both Chinese version of MSAS-HF and MLHFQ demonstrate a remarkable level of reliability. Considering the distinct attributes of assessment tools, it is highly advisable to utilize Chinese version of MSAS-HF for the purpose of symptom assessment in patients suffering from heart failure

Electrocatalytic Reduction of Carbon Dioxide on Nanosized Fluorine Doped Tin Oxide in the Solution of Extremely Low Supporting Electrolyte Concentration: Low Reduction Potentials

Fluorine doped tin oxide (FTO) has been prepared via the direct chemical reaction of tin oxide powders and hydrofluoric acid at room temperature. The image of FTO displays a sphere-like structure with an average diameter of 40–100 nm. The spectra of X-ray photoelectron spectroscopy (XPS) demonstrate that fluorine is doped into SnO₂. A well-defined reduction peak at −0.50 V (vs SCE) is detected on the cyclic voltammogram (CV) of the nanosized FTO (n-FTO) electrode in CO₂-saturated 3.6 × 10^–4 μM H₂SO₄ solution of pH 5.5, which is strong evidence for the electrochemical reduction of CO₂. This result indicates that the n-FTO electrode in such an extremely low supporting electrolyte concentration exhibits good electrocatalytic ability toward CO₂ reduction under lower potentials. On the basis of reduction peak current as a function of scan rate, the reduction of CO₂ is first performed via adsorption of CO₂ on the n-FTO electrode surface, and then CO₂ is reduced. The product solution obtained under a constant potential of −0.90 V (vs Ag/AgCl with saturated KCl solution) is used for analysis of UV–vis spectra, ¹H NMR, and gas chromatography; the results demonstrate the presence of formic acid and methanol in the product solution, but formic acid is a main product. Faradaic efficiency for formic acid is 82.3%

Proteomic analysis of the rice (Oryza officinalis) provides clues on molecular tagging of proteins for brown planthopper resistance

Abstract Background Among various pests, the brown planthopper (BPH) that damages rice is the major destructive pests. Understanding resistance mechanisms is a critical step toward effective control of BPH. This study investigates the proteomics of BPH interactions with three rice cultivars: the first resistant (PR) to BPH, the second susceptible (PS), and the third hybrid (HR) between the two, in order to understand mechanisms of BPH resistance in rice. Results Over 4900 proteins were identified from these three rice cultivars using iTRAQ proteomics study. A total of 414, 425 and 470 differentially expressed proteins (DEPs) were detected from PR, PS and HR, respectively, after BPH infestation. Identified DEPs are mainly enriched in categories related with biosynthesis of secondary metabolites, carbon metabolism, and glyoxylate and dicarboxylate metabolism. A two-component response regulator protein (ORR22) may participate in the early signal transduction after BPH infestation. In the case of the resistant rice cultivar (PR), 6 DEPs, i.e. two lipoxygenases (LOXs), a lipase, two dirigent proteins (DIRs) and an Ent-cassa-12,15-diene synthase (OsDTC1) are related to inheritable BPH resistance. A heat shock protein (HSP20) may take part in the physiological response to BPH infestation, making it a potential target for marker-assisted selection (MAS) of rice. Quantitative real-time polymerase chain reaction (qRT-PCR) revealed eight genes encoding various metabolic proteins involved in BPH resistance. During grain development the expressions of these genes varied at the transcriptional and translational levels. Conclusions This study provides comprehensive details of key proteins under compatible and incompatible interactions during BPH infestation, which will be useful for further investigation of the molecular basis of rice resistance to BPH and for breeding BPH-resistant rice cultivars

Microbiome convergence enables siderophore-secreting-rhizobacteria to improve iron nutrition and yield of peanut intercropped with maize

Intercropping has the potential to improve plant nutrition as well as crop yield. However, the exact mechanism promoting improved nutrient acquisition and the role the rhizosphere microbiome may play in this process remains poorly understood. Here, we use a peanut/maize intercropping system to investigate the role of root-associated microbiota in iron nutrition in these crops, combining microbiome profiling, strain and substance isolation and functional validation. We find that intercropping increases iron nutrition in peanut but not in maize plants and that the microbiota composition changes and converges between the two plants tested in intercropping experiments. We identify a Pseudomonas secreted siderophore, pyoverdine, that improves iron nutrition in glasshouse and field experiments. Our results suggest that the presence of siderophore-secreting Pseudomonas in peanut and maize intercropped plays an important role in iron nutrition. These findings could be used to envision future intercropping practices aiming to improve plant nutrition

Staphylococcal lipoteichoic acid inhibits delayed-type hypersensitivity reactions via the platelet-activating factor receptor

Staphylococcus aureus infections are known triggers for skin inflammation and can modulate immune responses. The present studies used model systems consisting of platelet-activating factor receptor–positive and –negative (PAF-R–positive and –negative) cells and PAF-R–deficient mice to demonstrate that staphylococcal lipoteichoic acid (LTA), a constituent of Gram-positive bacteria cell walls, acts as a PAF-R agonist. We show that LTA stimulates an immediate intracellular Ca(2+) flux only in PAF-R–positive cells. Intradermal injections of LTA and the PAF-R agonist 1-hexadecyl-2-N-methylcarbamoyl glycerophosphocholine (CPAF) induced cutaneous inflammation in wild-type but not PAF-R–deficient mice. Systemic exposure to LTA or CPAF inhibited delayed-type hypersensitivity (DTH) reactions to the chemical dinitrofluorobenzene only in PAF-R–expressing mice. The inhibition of DTH reactions was abrogated by the addition of neutralizing antibodies to IL-10. Finally, we measured levels of LTA that were adequate to stimulate PAF-R in vitro on the skin of subjects with infected atopic dermatitis. Based on these studies, we propose that LTA exerts immunomodulatory effects via the PAF-R through production of the Th2 cytokine IL-10. These findings show a novel mechanism by which staphylococcal infections can inhibit Th1 reactions and thus worsen Th2 skin diseases, such as atopic dermatitis