Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome

Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JLNS), a rare form of LQTS with congenital sensorineural deafness, in Chinese individuals.Three JLNS kindreds from the Chinese National LQTS Registry were investigated. Mutational screening of KCNQ1 and KCNE1 genes was performed by polymerase chain reaction and direct DNA sequence analysis. LQTS phenotype and therapeutic outcomes were evaluated for all probands and family members.We identified 7 KCNQ1 mutations. c.1032_1117dup (p.Ser373TrpfsX10) and c.1319delT (p.Val440AlafsX26) were novel, causing JLNS in a 16-year-old boy with a QTc (QT interval corrected for heart rate) of 620 ms and recurrent syncope. c.605-2A>G and c.815G>A (p.Gly272Asp) caused JLNS in a 12-year-old girl and her 5-year-old brother, showing QTc of 590 to 600 ms and recurrent syncope. The fourth JLNS case, a 46-year-old man carrying c.1032G>A (p.Ala344Alasp) and c.569G>A (p.Arg190Gln) and with QTc of 460 ms, has been syncope-free since age 30. His 16-year-old daughter carries novel missense mutation c.574C>T (p.Arg192Cys) and c.1032G>A(p.Ala344Alasp) and displayed a severe phenotype of Romano-Ward syndrome (RWS) characterized by a QTc of 530 ms and recurrent syncope with normal hearing. Both the father and daughter also carried c.253G>A (p.Asp85Asn; rs1805128), a rare single nucleotide polymorphism (SNP) on KCNE1. Bizarre T waves were seen in 3/4 JLNS patients. Symptoms were improved and T wave abnormalities became less abnormal after appropriate treatment.This study broadens the mutation and phenotype spectrums of JLNS. Compound heterozygous KCNQ1 mutations can result in both JLNS and severe forms of RWS in Chinese individuals.SCI(E)CPCI-S(ISTP)PubMed0MEETING ABSTRACT267-75

Radiomics analysis of R2* maps to predict early recurrence of single hepatocellular carcinoma after hepatectomy

ObjectivesThis study aimed to evaluate the effectiveness of radiomics analysis with R2* maps in predicting early recurrence (ER) in single hepatocellular carcinoma (HCC) following partial hepatectomy.MethodsWe conducted a retrospective analysis involving 202 patients with surgically confirmed single HCC having undergone preoperative magnetic resonance imaging between 2018 and 2021 at two different institutions. 126 patients from Institution 1 were assigned to the training set, and 76 patients from Institution 2 were assigned to the validation set. A least absolute shrinkage and selection operator (LASSO) regularization was conducted to operate a logistic regression, then features were identified to construct a radiomic score (Rad-score). Uni- and multi-variable tests were used to assess the correlations of clinicopathological features and Rad-score with ER. We then established a combined model encompassing the optimal Rad-score and clinical-pathological risk factors. Additionally, we formulated and validated a predictive nomogram for predicting ER in HCC. The nomogram’s discrimination, calibration, and clinical utility were thoroughly evaluated.ResultsMultivariable logistic regression revealed the Rad-score, microvascular invasion (MVI), and α fetoprotein (AFP) level > 400 ng/mL as significant independent predictors of ER in HCC. We constructed a nomogram based on these significant factors. The areas under the receiver operator characteristic curve of the nomogram and precision-recall curve were 0.901 and 0.753, respectively, with an F1 score of 0.831 in the training set. These values in the validation set were 0.827, 0.659, and 0.808.ConclusionThe nomogram that integrates the radiomic score, MVI, and AFP demonstrates high predictive efficacy for estimating the risk of ER in HCC. It facilitates personalized risk classification and therapeutic decision-making for HCC patients

The impact of farm household tourism operations on poverty reduction and conservation under the control policies of China’s protected areas

Against the global trend of increasing multiple participants involvement in protected areas management, the Chinese government has implemented a series of stricter policies since 2015. Tourism is an important alternative livelihood for farmers near protected areas. Based on survey data from 1,028 households in six protected areas, this study uses the propensity score matching (PSM) method to empirically examine the change effects of poverty reduction and conservation of farmers engaged in tourism under the influence of protected areas tourism management policies. The PSM method reduces sample self-selection bias and improves the accuracy of research conclusions. The findings reveal that irrespective of whether the areas are subjected to regulatory policies or not, tourism operations are significantly and inversely correlated with households’ multidimensional poverty index, and are notably positively correlated with their comprehensive conservation index. Consequently, tourism operations exhibit substantial poverty alleviation and protective effects. However, the current suite of protected areas control policies has curtailed the sustainable growth of tourism within these areas, resulting in 9.64% decrease in poverty alleviation effects and 10.33% decrease in protective effects derived from tourism operations. Despite their restrictive impacts on tourism, these policies have yielded some positive outcomes, fostering social equity within protected areas and catalyzing the transition from traditional livelihoods. Drawing upon these empirical findings, this study proposes recommendations and directions for fine-tuning China’s existing regulatory policies pertaining to tourism in protected areas

Subinhibitory Concentrations of Perilla Oil Affect the Expression of Secreted Virulence Factor Genes in Staphylococcus aureus

BACKGROUND: The pathogenicity of staphylococcus aureus is dependent largely upon its ability to secrete a number of virulence factors, therefore, anti-virulence strategy to combat S. aureus-mediated infections is now gaining great interest. It is widely recognized that some plant essential oils could affect the production of staphylococcal exotoxins when used at subinhibitory concentrations. Perilla [Perilla frutescens (L.) Britton], a natural medicine found in eastern Asia, is primarily used as both a medicinal and culinary herb. Its essential oil (perilla oil) has been previously demonstrated to be active against S. aureus. However, there are no data on the influence of perilla oil on the production of S. aureus exotoxins. METHODOLOGY/PRINCIPAL FINDINGS: A broth microdilution method was used to determine the minimum inhibitory concentrations (MICs) of perilla oil against S. aureus strains. Hemolysis, tumour necrosis factor (TNF) release, Western blot, and real-time RT-PCR assays were performed to evaluate the effects of subinhibitory concentrations of perilla oil on exotoxins production in S. aureus. The data presented here show that perilla oil dose-dependently decreased the production of α-toxin, enterotoxins A and B (the major staphylococcal enterotoxins), and toxic shock syndrome toxin 1 (TSST-1) in both methicillin-sensitive S. aureus (MSSA) and methicillin-resistant S. aureus (MRSA). CONCLUSIONS/SIGNIFICANCE: The production of α-toxin, SEA, SEB, and TSST-1 in S. aureus was decreased by perilla oil. These data suggest that perilla oil may be useful for the treatment of S. aureus infections when used in combination with β-lactam antibiotics, which can increase exotoxins production by S. aureus at subinhibitory concentrations. Furthermore, perilla oil could be rationally applied in food systems as a novel food preservative both to inhibit the growth of S. aureus and to repress the production of exotoxins, particularly staphylococcal enterotoxins

Comparison of osteogenic capability of 3D-printed bioceramic scaffolds and granules with different porosities for clinical translation

Pore parameters, structural stability, and filler morphology of artificial implants are key factors influencing the process of bone tissue repair. However, the extent to which each of these factors contributes to bone formation in the preparation of porous bioceramics is currently unclear, with the two often being coupled. Herein, we prepared magnesium-doped wollastonite (Mg-CSi) scaffolds with 57% and 70% porosity (57-S and 70-S) via a 3D printing technique. Meanwhile, the bioceramic granules (57-G and 70-G) with curved pore topography (IWP) were prepared by physically disrupting the 57-S and 70-S scaffolds, respectively, and compared for in vivo osteogenesis at 4, 10, and 16 weeks. The pore parameters and the mechanical and biodegradable properties of different porous bioceramics were characterized systematically. The four groups of porous scaffolds and granules were then implanted into a rabbit femoral defect model to evaluate the osteogenic behavior in vivo. 2D/3D reconstruction and histological analysis showed that significant bone tissue production was visible in the central zone of porous granule groups at the early stage but bone tissue ingrowth was slower in the porous scaffold groups. The bone tissue regeneration and reconstruction capacity were stronger after 10 weeks, and the porous architecture of the 57-S scaffold was maintained stably at 16 weeks. These experimental results demonstrated that the structure-collapsed porous bioceramic is favorable for early-stage osteoconduction and that the 3D topological scaffolds may provide more structural stability for bone tissue growth for a long-term stage. These findings provide new ideas for the selection of different types of porous bioceramics for clinical bone repair

Atmospheric dielectric barrier discharge and its application to surface modification of blood-filtering nonwoven fabrics

432-438Electricity parameters of discharge current and discharge power measured by the oscilloscope have been analyzed by using improved dielectric barrier discharge equipment. After carefully controlled discharge voltage, current, power and gap between the electrodes, an improved quasi-stable atmospheric pressure dielectric barrier discharge plasma source is achieved. This plasma source has been used to modify the surface of melt-blown polybutylene terephthalate (PBT) nonwovens. It is observed that both the wettablity and permeation of treated melt-blown PBT nonwovens are greatly improved. The result is of great importance to dielectric barrier discharge at atmospheric pressure and its application to surface modification of textile materials

The Role of the Forest Recreation Industry in China’s National Economy: An Input–Output Analysis

Forest recreation not only enables directly creates impacts on the entire tourism industry but also indirectly creates effects on other industries composed in an economic system via inter-industrial interdependence, such as backward and forward linkages or interactions. However, due to the lack of data available, few studies have been made exclusively for evaluating the impacts of forest recreation on the economy in a national dimension. Therefore, this paper attempts to analyze the economic impacts of the forest recreation industry. Using an input–output modeling approach, the industrial linkage and a cluster of economic multipliers are estimated based on new input–output tables for 2012, 2017, and 2018 that includes the forest recreation industry. The results indicate that, first, both the forward and backward linkages caused by forest recreation show rising trends over the analysis periods and the backward linkages are stronger than forward linkages. Second, the economic contribution of forest recreation has been strengthened, although the multipliers have shown a downward trend. The total output impact in 2018 is calculated to be $838.187 billion, with a total added impact of$352.713 billion. Furthermore, forest recreation could create over 18 million jobs with an average annual growth rate of 15.73%, which are mainly in the catering, accommodation, and retail industries with low skill requirements. Finally, policy applications are proposed to provide reliable and useful information for future planning and investment decision associated with the forestry and ecotourism industry