Biotransformation of ursane-type triterpenoid ilexgenin A by endophytic fungi Lasiodiplodia sp. MQD-4 and Pestalotiopsis sp. ZZ-1, isolated from Ilex pubescences and Callicarpa kwangtungensis respectively, was investigated for the first time. Six previously undescribed metabolites (1-6) with 23-norursane triterpenoids skeleton were isolated and their structures were unambiguously established by the analysis of spectroscopic data and single-crystal X-ray crystallographic experiments. Decarboxylation, oxidation, and hydroxylation reactions were observed on the triterpenoid skeleton. Especially, the decarboxylation of C-23 provided definite evidence to understand the biogenetic process of 23-norursane triterpenoids. Moreover, the qualitative analysis of the extract of I. pubescences showed metabolites 1, 3, 4, and 6 could be detected in the originated plant, indicating biotransformation by endophytic fungi is a practical strategy for the isolation of novel natural products. Finally, all isolates were evaluated for the protective activities against H2O2-induced HUVECs dysfunction in vitro. Compound 5 could improve the viability of endothelial cells and decrease the level of intracellular ROS.
BACKGROUND: Cutaneous melanoma (CM) is an aggressive form of skin cancer with limited treatment options for advanced stages. Prognostic markers that accurately predict patients' outcomes and guide therapeutic strategies are crucial for improving melanoma management. SETD2 (SET Domain-Containing Protein 2), a histone methyltransferase involved in chromatin remodeling and gene regulation, has recently emerged as a tumor suppressor. Its dysfunction is involved in oncogenesis in some cancers, but little is known about its functions in progression and therapeutic response of melanoma. METHODS: RNA-seq and clinical data from public database were used to evaluate the survival analysis, gene set enrichment, IC50 of therapeutics and immunotherapy response. SETD2 knock-out A375 cell line (A375SETD2ko) was developed by Crispr/cas9 and CCK-8 analysis and nude mice used to evaluate the proliferation and invasion of melanoma cells in vitro and in vivo, while Western blotting tested the MMR-related protein. RESULTS: SETD2 was commonly down-regulated in melanoma samples which demonstrated an unfavorable survival. Cells without SETD2 expression tend to have a more progressive and invasive behavior, with resistance to chemotherapy. However, they are more sensitive to tyrosine kinase inhibitors (TKIs). They also exhibit inflamed features with lower TIDE (Tumor Immune Dysfunction and Exclusion) score and higher tumor mutation burden (TMB), showing that these patients may benefit from immunotherapy. CONCLUSIONS: This study revealed that SETD2 dysfunction in melanoma implied a poor prognosis and chemotherapy resistance, but highly sensitive to TKIs and immunotherapy, highlighting the prognostic and therapeutic value of SETD2 in cutaneous melanoma.
Testicular cancer (TCa) is a rare but impactful malignancy that primarily affects young men. Understanding the mortality rate of TCa is crucial for improving prevention and treatment strategies to reduce the risk of death among patients. We obtained TCa mortality data by place (5 countries), age (20-79 years), and year (1990-2019) from the Global Burden of Disease Study 2019. Age-period-cohort model was used to estimate the net drift, local drift, age effects, period and cohort effects. In 2019, the global mortality of TCa increased to 10842 (95% UI 9961, 11902), with an increase of 50.08% compared to 1990.The all-age mortality rate for TCa in 2019 increased from 0.17/100,000 (95% UI 0.13, 0.20) in China to 0.48/100,000 (95% UI 0.38, 0.59) in Russian Federation, whereas the age-standardized mortality rate in 2019 was highest in the South Africa 0.47/100,000 (95% UI 0.42, 0.53) and lowest in the China 0.16/100,000 (95% UI 0.13, 0.19). China's aging population shifts mortality patterns towards the elderly, while in Russian Federation, young individuals are primarily affected by the distribution of deaths. To address divergent TCa mortality advancements in BRICS countries, we propose a contextually adaptive and resource-conscious approach to prioritize TCa prevention. Tailoring strategies to contextual diversity, including policy frameworks, human resources, and financial capacities, will enhance targeted interventions and effectiveness in reducing TCa mortality.
Testicular Neoplasms , Humans , Male , Middle Aged , Testicular Neoplasms/mortality , Testicular Neoplasms/epidemiology , Adult , Aged , Young Adult , Russia/epidemiology , China/epidemiology , Cohort Studies , Global Burden of Disease/trends , Mortality/trends , South Africa/epidemiology , Age Factors
To test independence between two high-dimensional random vectors, we propose three tests based on the rank-based indices derived from Hoeffding's D, Blum-Kiefer-Rosenblatt's R and Bergsma-Dassios-Yanagimoto's τ*. Under the null hypothesis of independence, we show that the distributions of the proposed test statistics converge to normal ones if the dimensions diverge arbitrarily with the sample size. We further derive an explicit rate of convergence. Thanks to the monotone transformation-invariant property, these distribution-free tests can be readily used to generally distributed random vectors including heavily tailed ones. We further study the local power of the proposed tests and compare their relative efficiencies with two classic distance covariance/correlation based tests in high dimensional settings. We establish explicit relationships between D,R,τ* and Pearson's correlation for bivariate normal random variables. The relationships serve as a basis for power comparison. Our theoretical results show that under a Gaussian equicorrelation alternative, (i) the proposed tests are superior to the two classic distance covariance/correlation based tests if the components of random vectors have very different scales; (ii) the asymptotic efficiency of the proposed tests based on D,τ* and R are sorted in a descending order.
Graphene is a promising candidate for the thermal management of downscaled microelectronic devices owing to its exceptional electrical and thermal properties. Nevertheless, a comprehensive understanding of the intricate electrical and thermal interconversions at a nanoscale, particularly in field-effect transistors with prevalent gate operations, remains elusive. In this study, nanothermometric imaging is used to examine a current-carrying monolayer graphene channel sandwiched between hexagonal boron nitride dielectrics. It is revealed for the first time that beyond the expected Joule heating, the thermoelectric Peltier effect actively plays a significant role in generating hotspots beneath the gated region. With gate-controlled charge redistribution and a shift in the Dirac point position, an unprecedented systematic evolution of thermoelectric hotspots, underscoring their remarkable tenability is demonstrated. This study reveals the field-effect Peltier contribution in a single graphene-material channel of transistors, offering valuable insights into field-effect thermoelectrics and future on-chip energy management.
Antimony sulfide (Sb2S3) has been recognized as a catalytic material for splitting water by solar energy because of its suitable narrow band gap, high absorption coefficient, and abundance of elements. However, many deep-level defects in Sb2S3 result in a significant recombination of photoexcited electron-hole pairs, weakening its photoelectrochemical performance. Here, by using a simple hydrothermal and spin-coating method, we fabricated a step-scheme heterojunction of Sb2S3/α-Fe2O3 to improve the photoelectrochemical performance of pure Sb2S3. Our Sb2S3/α-Fe2O3 photoanode has a photocurrent density of 1.18 mA/cm2 at 1.23 V vs reversible hydrogen electrode, 1.39 times higher than that of Sb2S3 (0.84 mA/cm2). In addition, our heterojunction has a lower onset potential, a higher absorbance intensity, a higher incident photon-to-current conversion efficiency, a higher applied bias photon-to-current efficiency, and a lower charge transfer resistance compared to pure Sb2S3. Based on ultraviolet photoelectron spectroscopy, we constructed a step-scheme band structure of Sb2S3/α-Fe2O3 to explain its photoelectrochemical enhancement. This work offers a promising strategy to optimize the performance of Sb2S3 photoelectrodes for solar-driven photoelectrochemical water splitting.
Context: Hepatobiliary disease requires surgical treatment and T-tube installment postoperatively, and discharged patients' usually still have a T tube. Little nursing care is available in China for patients after discharge, resulting in postdischarge complications. Also, the incidence of nutritional risk in patients with hepatobiliary surgery is high. Objective: The study aimed to investigate the benefits of a precede-proceed model-dominant nursing combined with nutritional support for patients discharged after hepatobiliary surgery with a T tube, so as to improve their prognoses and promote their rehabilitation. Design: The research team conducted a prospective, single-center, randomized controlled trial. Setting: The study took place at Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine in Wuhan, Hubei, China. Participants: Participants were 120 patients discharged after hepatobiliary surgery at the hospital between June 2020 and June 2022. Interventions: The research team randomly divided participants into two groups using the random number table method, each with 60 participants: (1) an intervention group, which received precede-proceed model-dominant nursing combined with nutrition support and (2) a control group, which received routine care. Outcome Measures: At baseline and postintervention, the research team assessed: (1) nutritional status, (2) self-care agency, (3) compliance, (4) quality of life (QoL), (5) incidence of complications. Results: At baseline, no significant differences existed between the groups in nutritional status, self-care agency, QoL, or compliance (all P > .05). Postintervention compared to the control group, the intervention group's: (1) nutritional status, including albumin (P = .015), hemoglobin (P < .001), growth hormone (P < .001), BW (P = .047), BMI (P = .046), TST (P = .001), and MAMC (P = .016) were significantly higher and transferrin (P < .001) and NRS-2002 score (P < .001) were significantly lower; (2) self-care agency, including self-concept, self-responsibility, health knowledge, and self-nursing skills were significantly higher (all P < .001); (3) compliance scores, including observing the volume and color of bile correctly, clamping and opening the T tube properly, replacing the drainage bag correctly and in a timely manner, regularly disinfecting the skin around the drainage tube, keeping a balanced diet, adhering to medical regimens, exercising adequately were significantly higher (all P < .001); (4) QoL was significantly higher (P < .001); and (5) incidence of complications was significantly lower (P = .008). Conclusions: Precede-proceed model-dominant nursing combined with nutrition support can significantly improve nutritional status, self-care agency, and QoL and can significantly decrease the incidence of complications for patients discharged after hepatobiliary surgery with a T tube and is worthy of promotion in clinics.
The study aimed to assess the effects of breast-conserving surgery (BCS) versus mastectomy on survival and quality of life in Stages I, II, and III breast cancer, providing solid evidence for clinical decisions. We conducted a meta-analysis of randomized controlled trials on breast cancer treatments, searching databases such as PubMed and the Cochrane Library to compare BCS, and mastectomy's effects on survival and quality of life. A combined total of 16 734 patients in the control group and 17 435 patients in the experimental group were included in this analysis. This meta-analysis used RevMan 5.3 (Cochrane Collaboration, Copenhagen, Denmark) software for analysis. Our meta-analysis of 34 169 patients from 11 studies showed that BCS significantly reduced the overall recurrence rate at a median follow-up of 29 months, with a mean difference of 1.27 and a 95% confidence interval of 1.19-1.36, strongly supporting its effectiveness (P < .00001). Furthermore, our analysis found no significant increase in 5-year local recurrence rates for BCS versus mastectomy, indicating its long-term effectiveness with a mean difference of 1.13 (95% confidence interval: [1.03, 1.24], P = .01). Additionally, there was a notable decrease in tissue ischaemic necrosis among patients who had received BCS, with a mean difference of 0.37 (95% confidence interval: [0.33, 0.42], P < .00001), underscoring its benefits and long-term viability. BCS resulted in fewer cases of tissue ischaemic necrosis and higher body image scores compared with mastectomy, suggesting that it is a preferable option for better cosmetic outcomes and potentially favourable effects on prognosis and quality of life.
Breast Neoplasms , Mastectomy, Segmental , Mastectomy , Quality of Life , Randomized Controlled Trials as Topic , Humans , Breast Neoplasms/surgery , Breast Neoplasms/mortality , Female , Neoplasm Recurrence, Local , Survival Rate
The contamination of microplastics in terrestrial geoenvironment (CMTG) is widespread and severe and has, received considerable attention. However, studies on CMTG are in their initial stages. The literature on CMTG published in the past decade was analyzed through bibliometric analysis, such as the annual publications, countries with the highest contributions, prolific authors, and author keywords. The sources, compositions, migrations and environmental impacts of CMTG are summarized, and possible future directions are proposed. This study analyzed the annual publications, countries with the highest contributions, prolific authors, and author keywords related to microplastics. The results demonstrated that 15,306 articles were published between 2014 and 2023. China is the leading country in terms of the total number of publications. The main sources of CMTG include landfills, agricultural non-point sources, sewage treatment systems and transportation systems. The composition of the CMTG exhibits significantly temporal and spatial variability from different sources. The migration paths of the CMTG were within the soil, groundwater seepage and wind transportation of suspended particles. Microplastics increase soil cohesion, decrease porosity, reduce pore scale, decrease air circulation, and increase water retention capacity, and the exudation of highly water-soluble additives in microplastics can cause secondary contamination of geological entities. Microplastics have an adverse effect on plant growth, animal digestion, microbial activity, energy and lipid metabolism, oxidative stress, and respiratory diseases in humans. It is recommended to develop more efficient and convenient quantitative testing methods for microplastics, formulate globally harmonized testing and evaluation standards, include microplastic testing in testing programs for contaminated soils, and develop efficient methods for the remediation of microplastic contaminated geological bodies.
Background and aim: Vancomycin, a glycopeptide antimicrobial drug. PPK has problems such as difficulty in accurately reflecting inter-individual differences, and the PPK model may not be accurate enough to predict individual pharmacokinetic parameters. Therefore, the aim of this study is to investigate whether the application of machine learning combined with the PPK method can improve the prediction of vancomycin CL in adult Chinese patients. Methods: In the first step, a vancomycin CL prediction model for Chinese adult patients is given by PPK and Hamilton Monte Carlo sampling is used to obtain the reference CL of 1,000 patients; the second step is to obtain the final prediction model by machine learning using an appropriate model for the predictive factor and the reference CL; and the third step is to randomly select, in the simulated data, a total of 250 patients for prediction effect evaluation. Results: XGBoost model is selected as final machine learning model. More than four-fifths of the subjects' predictive values regarding vancomycin CL are improved by machine learning combined with PPK. Machine learning combined with PPK models is more stable in performance than the PPK method alone for predicting models. Conclusion: The first combination of PPK and machine learning for predictive modeling of vancomycin clearance in adult patients. It provides a reference for clinical pharmacists or clinicians to optimize the initial dosage given to ensure the effectiveness and safety of drug therapy for each patient.
BACKGROUND: Placenta accreta spectrum often leads to massive hemorrhage and even maternal shock and death. This study aims to identify whether cervical length and cervical area measured by magnetic resonance imaging correlate with massive hemorrhage in patients with placenta accreta spectrum. METHODS: The study was conducted at our hospital, and 158 placenta previa patients with placenta accreta spectrum underwent preoperative magnetic resonance imaging examination were included. The cervical length and cervical area were measured and evaluated their ability to identify massive hemorrhage in patients with placenta accreta spectrum. RESULTS: The cervical length and area in patients with massive hemorrhage were both significantly smaller than those in patients without massive hemorrhage. The results of multivariate analysis show that cervical length and cervical area were significantly associated with massive hemorrhage. In all patients, a negative linear was found between cervical length and amount of blood loss (r =-0.613), and between cervical area and amount of blood loss (r =-0.629). Combined with cervical length and cervical area, the sensitivity, specificity, and the area under the curve for the predictive massive hemorrhage were 88.618%, 90.209%, and 0.890, respectively. CONCLUSION: The cervical length and area might be used to recognize massive hemorrhage in placenta previa patients with placenta accreta spectrum.
Placenta Accreta , Placenta Previa , Pregnancy , Female , Humans , Placenta Previa/diagnostic imaging , Placenta Previa/surgery , Placenta Accreta/surgery , Cervix Uteri/diagnostic imaging , Blood Loss, Surgical , Magnetic Resonance Imaging/methods , Retrospective Studies , Placenta
BACKGROUND: The interplay between exosomes and the tumor microenvironment (TME) remains unclear. We investigated the influence of exosomes on the TME in hepatocellular carcinoma (HCC), focusing on their mRNA expression profile. METHODS: mRNA expression profiles of exosomes were obtained from exoRBase. RNA sequencing data from HCC patients' tumors were acquired from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC). An exosome mRNA-related risk score model of prognostic value was established. The patients in the two databases were divided into high- and low-risk groups based on the median risk score value, and used to validate one another. Functional enrichment analysis was performed based on a differential gene prognosis model (DGPM). CIBERSORT was used to assess the abundance of immune cells in the TME. The correlation between the expression levels of immune checkpoint-related genes and DGPM was analyzed alongside the prediction value to drug sensitivity. RESULTS: A prognostic exosome mRNA-related 4-gene signature (DYNC1H1, PRKDC, CCDC88A, and ADAMTS5) was constructed and validated. A prognostic nomogram had prognostic ability for HCC. The genes for this model are involved in extracellular matrix, extracellular matrix (ECM)-receptor interaction, and the PI3K-Akt signaling pathway. Expression of genes here had a positive correlation with immune cell infiltration in the TME. CONCLUSIONS: Our study results demonstrate that an exosome mRNA-related risk model can be established in HCC, highlighting the functional significance of the molecules in prognosis and risk stratification.
Carcinoma, Hepatocellular , Exosomes , Liver Neoplasms , Humans , Carcinoma, Hepatocellular/genetics , Exosomes/genetics , RNA, Messenger/genetics , Tumor Microenvironment , Phosphatidylinositol 3-Kinases , Liver Neoplasms/genetics , Prognosis , Risk Factors , Microfilament Proteins , Vesicular Transport Proteins
There are close links between solar UV radiation, climate change, and plastic pollution. UV-driven weathering is a key process leading to the degradation of plastics in the environment but also the formation of potentially harmful plastic fragments such as micro- and nanoplastic particles. Estimates of the environmental persistence of plastic pollution, and the formation of fragments, will need to take in account plastic dispersal around the globe, as well as projected UV radiation levels and climate change factors.
Solar Energy , Ultraviolet Rays , Ultraviolet Rays/adverse effects , Climate Change , Environmental Pollution , Weather
A sensitive electrochemical platform was constructed with NH2-Cu-MOF as electrochemical probe to detect antibiotics using CRISPR/Cas12a system triggered by hybridization chain reaction (HCR). The sensing system consists of two HCR systems. HCR1 occurred on the electrode surface independent of the target, generating long dsDNA to connect signal probes and producing a strong electrochemical signal. HCR2 was triggered by target, and the resulting dsDNA products activated the CRISPR/Cas12a, thereby resulting in effective and rapid cleavage of the trigger of HCR1, hindering the occurrence of HCR1, and reducing the number of NH2-Cu-MOF on the electrode surface. Eventually, significant signal change depended on the target was obtained. On this basis and with the help of the programmability of DNA, kanamycin and ampicillin were sensitively detected with detection limits of 60 fM and 10 fM (S/N = 3), respectively. Furthermore, the sensing platform showed good detection performance in milk and livestock wastewater samples, demonstrating its great application prospects in the detection of antibiotics in food and environmental water samples.
Anti-Bacterial Agents , Biosensing Techniques , Electrochemical Techniques/methods , CRISPR-Cas Systems , Biosensing Techniques/methods , Nucleic Acid Hybridization
OBJECTIVE: Head-up tilt test (HUTT) is an important tool in the diagnosis of pediatric vasovagal syncope. This research will explore the relationship between syncopal symptoms and HUTT modes in pediatric vasovagal syncope. METHODS: A retrospective analysis was performed on the clinical data of 2513 children aged 3-18 years, who were diagnosed with vasovagal syncope, from Jan. 2001 to Dec. 2021 due to unexplained syncope or pre-syncope. The average age was 11.76 ± 2.83 years, including 1124 males and 1389 females. The patients were divided into the basic head-up tilt test (BHUT) group (596 patients) and the sublingual nitroglycerine head-up tilt test (SNHUT) group (1917 patients) according to the mode of positive HUTT at the time of confirmed pediatric vasovagal syncope. RESULTS: (1) Baseline characteristics: Age, height, weight, heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), and composition ratio of syncope at baseline status were higher in the BHUT group than in the SNHUT group (all P < 0.05). (2) Univariate analysis: Age, height, weight, HR, SBP, DBP, and syncope were potential risk factors for BHUT positive (all P < 0.05). (3) Multivariate analysis: syncope was an independent risk factor for BHUT positive, with a probability increase of 121% compared to pre-syncope (P<0.001). CONCLUSION: The probability of BHUT positivity was significantly higher than SNHUT in pediatric vasovagal syncope with previous syncopal episodes.
Optical sensors with in-cell logic and memory capabilities offer new horizons in realizing machine vision beyond von Neumann architectures and have been attempted with two-dimensional materials, memristive oxides, phase-changing materials etc. Noting the unparalleled performance of superconductors with both quantum-limited optical sensitivities and ultra-wide spectrum coverage, here we report a superconducting memlogic long-wave infrared sensor based on the bistability in hysteretic superconductor-normal phase transition. Driven cooperatively by electrical and optical pulses, the device offers deterministic in-sensor switching between resistive and superconducting (hence dissipationless) states with persistence > 105 s. This results in a resilient reconfigurable memlogic system applicable for, e.g., encrypted communications. Besides, a high infrared sensitivity at 12.2 µm is achieved through its in-situ metamaterial perfect absorber design. Our work opens the avenue to realize all-in-one superconducting memlogic sensors, surpassing biological retina capabilities in both sensitivity and wavelength, and presents a groundbreaking opportunity to integrate visional perception capabilities into superconductor-based intelligent quantum machines.
Lysozyme, a common antimicrobial agent, is widely used in the food, biopharmaceutical, chemical, and medicine fields. Rapid and effective isolation of lysozymes is an everlasting topic. In this work, ethylene vinyl alcohol (EVOH) copolymer nanofibrous membranes with a gradient porous structure used for lysozyme adsorption were prepared through layer-by-layer nanofiber wet-laying and a cost-efficient ultraviolet (UV)-assisted graft-modification method, where benzophenone was used as an initiator and 2-acrylamide-2-methylpropanesulfonic acid as a modifying monomer. As indicated in the Fourier Transform Infrared (FTIR) and X-ray photoelectric energy spectrometer (XPS) investigation, sulfonic acid groups were introduced on the surface of the modified nanofibrous membrane, which possessed the ability to adsorb lysozyme. Compared with membranes with homogenous porous structures, membranes with a gradient porous structure present higher static (335 mg/g) and dynamic adsorption capacities (216.3 mg/g). Meanwhile, the adsorption capacity remained high after five cycles of the adsorption-desorption process. The results can be attributed to the gradient porous structure rather than the highest porosity and specific surface area. This suggests that the membrane with comprehensive separation performance can be designed from the view of the transmembrane porous structure, which is of significance for the development of next-generation advanced chromatographic membranes.
Membrane distillation (MD) has emerged as a promising technology for desalination and concentration of hypersaline brine. However, the efficient preparation of a structurally stable and salinity-resistant membrane remains a significant challenge. In this study, an amphiphobic polytetrafluoroethylene nanofibrous membrane (PTFE NFM) with exceptional resistance to scaling has been developed, using an energy-efficient method. This innovative approach avoids the high-temperature sintering treatment, only involving electrospinning with PTFE/PVA emulsion and subsequent low-temperature crosslinking and fluorination. The impact of the PVA and PTFE contents, as well as the crosslinking and subsequent fluorination on the morphology and MD performance of the NFM, were systematically investigated. The optimized PTFE NFM displayed robust amphiphobicity, boasting a water contact angle of 155.2º and an oil contact angle of 132.7º. Moreover, the PTFE NFM exhibited stable steam flux of 52.1 L·m-2·h-1 and 26.7 L·m-2·h-1 when fed with 3.5 wt % and 25.0 wt % NaCl solutions, respectively, and an excellent salt rejection performance (99.99 %, ΔT = 60 °C) in a continuous operation for 24 h, showing exceptional anti-scaling performance. It also exhibited stable anti-wetting and anti-fouling properties against surfactants (sodium dodecyl sulfate) and hydrophobic contaminants (diesel oil). These results underscore the significant potential of the PTFE nanofibrous membrane for practical applications in desalination, especially in hypersaline or polluted aqueous environments.
Distillation , Membranes, Artificial , Nanofibers , Polytetrafluoroethylene , Polytetrafluoroethylene/chemistry , Nanofibers/chemistry , Distillation/methods , Halogenation , Water Purification/methods
MAPKKs, as one of the main members of the mitogen-activated protein kinase (MAPK) cascade pathway, are located in the middle of the cascade and are involved in many physiological processes of plant growth and development, as well as stress tolerance. Previous studies have found that StMAPKK5 is responsive to drought and salt stress. To further investigate the function and regulatory mechanism of StMAPKK5 in potato stress response, potato variety 'Atlantic' was subjected to drought and NaCl treatments, and the expression of the StMAPKK5 gene was detected by qRT-PCR. StMAPKK5 overexpression and RNA interference-mediated StMAPKK5 knockdown potato plants were constructed. The relative water content, superoxide dismutase (SOD), catalase (CAT), and peroxidase (POD) activities, as well as proline (Pro) and malondialdehyde (MDA) contents of plant leaves, were also assayed under drought and NaCl stress. The StMAPKK5 interacting proteins were identified and validated by yeast two-hybrid (Y2H) and bimolecular fluorescence complementation (BiFC). The results showed that the expression of StMAPKK5 was significantly up-regulated under drought and NaCl stress conditions. The StMAPKK5 protein was localized in the nucleus, cytoplasm, and cell membrane. The expression of StMAPKK5 affected the relative water content, the enzymatic activities of SOD, CAT, and POD, and the proline and MDA contents of potatoes under drought and salt stress conditions. These results suggest that StMAPKK5 plays a significant role in regulating drought and salt tolerance in potato crop. Yeast two-hybrid (Y2H) screening identified four interacting proteins: StMYB19, StZFP8, StPUB-like, and StSKIP19. BiFC confirmed the authenticity of the interactions. These findings suggest that StMAPKK5 is crucial for potato growth, development, and response to adversity.
Solanum tuberosum , Solanum tuberosum/genetics , Droughts , Saccharomyces cerevisiae , Sodium Chloride/pharmacology , Salt Stress , Proline , Superoxide Dismutase , Water
OBJECTIVE: To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD). METHODS: A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out. Sanger sequencing was used for validating the candidate variants. RESULTS: The child has manifested short stature, mid-face hypoplasia, joint laxity, internal knee rotation, irregularities in the metaphysis of long bones, and flat and concave lumbar vertebrae. WES revealed that she has harbored compound heterozygous variants of the TONSL gene, namely c.3088G>T (p.Glu1030*) and c.3053G>A (p.Arg1018His), which were inherited from her phenotypically normal parents. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3088G>T variant was classified as likely pathogenic (PVS1+PM2_Supporting), whilst the c.3053G>A was classified as a variant of uncertain significance (PM2_Supporting+PM3+PP3). CONCLUSION: The c.3088G>T and c.3053G>A compound heterozygous variants of the TONSL gene probably underlay the pathogenesis in this patient. Above finding has facilitated the clinical diagnosis and genetic counseling for her family.
Exome Sequencing , Heterozygote , Humans , Female , Infant , Mutation , Dwarfism/genetics , Phenotype , Matrilin Proteins
