Homophily modulates double descent generalization in graph convolution networks.

Graph neural networks (GNNs) excel in modeling relational data such as biological, social, and transportation networks, but the underpinnings of their success are not well understood. Traditional complexity measures from statistical learning theory fail to account for observed phenomena like the double descent or the impact of relational semantics on generalization error. Motivated by experimental observations of "transductive" double descent in key networks and datasets, we use analytical tools from statistical physics and random matrix theory to precisely characterize generalization in simple graph convolution networks on the contextual stochastic block model. Our results illuminate the nuances of learning on homophilic versus heterophilic data and predict double descent whose existence in GNNs has been questioned by recent work. We show how risk is shaped by the interplay between the graph noise, feature noise, and the number of training labels. Our findings apply beyond stylized models, capturing qualitative trends in real-world GNNs and datasets. As a case in point, we use our analytic insights to improve performance of state-of-the-art graph convolution networks on heterophilic datasets.

The role of (18F)-fluoro-D-glucose positron emission tomography/computed tomography in the surveillance of abnormal myocardial energy metabolism and cardiac dysfunction in a rat model of cardiopulmonary resuscitation.

PURPOSE: To investigate the feasibility and usefulness of 2-deoxy-2-(18F)-fluoro-D-glucose positron emission tomography/computed tomography [(18F)-FDG PET/CT] as a novel examination in the surveillance of abnormal myocardial energy metabolism and cardiac dysfunction after cardiopulmonary resuscitation (CPR). METHODS: Thirteen male Sprague-Dawley rats were randomly divided into a sham group (n = 4), CPR group (n = 4), and trimetazidine (TMZ) + CPR group (n = 5). The expression levels of the myocardial injury marker cardiac troponin I (CTNI) in serum were tested at 6 hours after CPR or TMZ + CPR. The ejection fraction and fraction shortening were evaluated by echocardiography. (18F)-FDG PET/CT was used to measure the FDG uptake and the standardized uptake value (SUV) after CPR or TMZ + CPR for 6 hours. The intermediary carbohydrate metabolites of glycolysis including phosphoenolpyruvate, 3-phospho-D-glycerate, and the lactate/pyruvate ratio were detected through the multiple reaction monitoring approach. Simultaneously, the authors also tested the expression levels of the total adenosine triphosphate (ATP) and the key intermediate products of glucose ovidation as alpha ketoglutarate, citrate, and succinate in the myocardium. RESULTS: The authors found that the aerobic oxidation of glucose was reduced, and the anaerobic glycolysis was significantly enhanced in the myocardium in the early stage of CPR. Meanwhile, the myocardial injury marker CTNI was upregulated considerably (P = 0.014, P = 0.021), and the left ventricular function of the animal heart also markedly deteriorated with the downregulation of ATP after CPR. In contrast, myocardial injury and cardiac function were greatly improved with the increase of ATP in the CPR + TMZ group. In addition, aerobic glucose oxidation metabolites were significantly increased (P < 0.05) and anaerobic glycolysis metabolites were significantly decreased (P < 0.05) after CPR in the myocardium. Surprisingly, (18F)-FDG PET/CT could track the above changes by detecting the FDG uptake value and the SUV. CONCLUSION: Glucose metabolism is an essential factor for myocardial self-repair after CPR. (18F) FDG PET/CT, as a non-invasive technology, can monitor myocardial energy metabolism and cardiac function by tracking changes in glucose metabolism after CPR.

In-hospital nursing care intervention increasing the effect of vacuum sealing drainage on wound healing: A meta-analysis.

Vacuum sealing drainage (VSD) could effectively drain superficial wounds and deep tissues, which is beneficial for wound healing. More incentives in nursing care to improve the therapeutic effect of VSD on wound healing were further investigated. Different databases were retrieved for full-text publications about the comparison between intervention nursing care and regular nursing care. Heterogeneity was detected by I2 method, and a random-effect model was applied for data pooling if there existed heterogeneity. Publication bias was analysed by a funnel plot. Eight studies with 762 patients were included for final meta-analysis. In the nursing care intervention group, shorter hospital stay duration (pooled SMD = -2.602, 95% confidence interval: -4.052--1.151), shorter wound healing time (pooled SMD = -1.105, 95% confidence interval: -1.857--0.353), lower pain score (pooled SMD = -2.490, 95% confidence interval: -3.521--1.458), lower drainage tube blocked rate (pooled RR = 0.361, 95% confidence interval: 0.268-0.486), and higher nursing satisfaction (pooled RR = 1.164, 95% confidence interval: 1.095-1.237) was confirmed. More active and incentive nursing care could significantly improve the therapeutic effect of VSD on wound healing, in terms of hospitalisation time, wound healing time, painful symptoms, drainage tube blockage, and nursing satisfaction.

Study on the effect of Pogostemon cablin Benth on skin aging based on network pharmacology.

BACKGROUND: At present, there is still little research on the anti-aging effect of Pogostemon cablin Benth (PCB) on human skin. In this paper, the mechanism of anti-aging effect of PCB on human skin was studied by using network pharmacology and molecular docking methods. OBJECTIVE: To analyze the pharmacological mechanism of PCB in the treatment of skin aging, so as to provide reference for new drug development and clinical application. METHODS: Active ingredients and related targets of PCB and skin aging-related disease targets are obtained through public databases, and the "drug-disease-target" and protein-protein interaction (PPI) network diagrams were constructed with the help of software to screen the core targets; Then GO analysis and KEGG pathway analysis were performed on the target; Finally, the molecular docking between the components and the targets were verified. RESULTS: After screening, 112 intersection targets of active compounds of skin aging and PCB were obtained. Through GO and KEGG enrichment analysis, it is found that these biological processes mainly focus on epithelial cell proliferation, aging, growth factors, longevity regulation pathway, cancer pathway, AGE-RAGE signal pathway, PI3K Akt signal pathway and IL-17 signal pathway. The molecular docking results showed that quercetin, apigenin, irisnepalensis isoflavone, 3,23-dihydroxy-12-oleorene-28-oleic acid, 5-hydroxy-7,4'- dimethoxyflavone and other major compounds were connected with TP53, JUN, HSP90AAL, AKT1 and MAPK1 through hydrogen bonds, and there was high binding energy between them. CONCLUSION: Through multi-target prediction and molecular docking verification, it shows that PCB provides a strong effect in the treatment of skin aging, which provides a reference for its further research.

Efficacy and safety of filgotinib in patients with rheumatoid arthritis and inadequate response to disease-modifying antirheumatic drugs (DMARDs): A meta-analysis of randomized controlled trials.

BACKGROUND: Filgotinib has been approved for the treatment of rheumatoid arthritis (RA) in adults who respond inadequately to disease-modifying antirheumatic drugs (DMARDs) in Europe and Japan. Several randomized controlled trials (RCTs) have investigated its efficacy and safety in adult patients with RA. This meta-analysis aimed to study the efficacy and safety of filgotinib in patients with RA withan inadequate response to methotrexateor other DMARDs. METHODS: A systematic literature search was conducted to identify articles in PubMed, MEDLINE, EMBASE, and Cochrane Library from inceptionto December 1, 2021. Outcomes of interest included ACR20/50/70 responses, DAS28-CRP ≤ 3.2, SF-36 PCS Score, FACIT-fatigue, SDAI,CDAI, and HAQ-DI, which were assessed after treatment. The safety outcomes included treatment-emergent adverse events (TEAEs) and serious TEAEs. Odds ratios (ORs) with 95% confidence intervals (CI) were pooled for categorical variables, and the mean difference with 95%CI were pooled for continuous variables. We used Review Manager 5.3 for the standard meta-analysis. This study followed the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). RESULTS: Four RCTs comparing filgotinib (200 and 100 mg once daily) with placebo were identified. Compared with placebo, 200 and 100 mg filgotinib was more effective in achieving ACR20/50/70 responses and other outcomes at weeks 12 and 24 (P < 0.05), with no significant difference in safety outcomes (P > 0.05). Filgotinib 200 mg performed better than filgotinib 100 mg in terms of ACR20/50 responses, DAS28-CRP ≤ 3.2, SDAI, and CDAI at weeks 12 and 24, and caused fewer serious TEAEs than the 100 mg dose. CONCLUSIONS: Filgotinib is effective in the treatment of RA, and the 200 mg dose has a more beneficialprofile thanthe 100 mg dose.

[Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I].

OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: The child was subjected to chromosomal microarray analysis (CMA) and targeted capture next-generation sequencing for the exons of genes related to genetic and metabolic diseases. Candidate variants were verified by Sanger sequencing of the child and his parents. RESULTS: CMA suggested that the child has a 47,XYY karyotype. Next-generation sequencing revealed that the child has harbored compound heterozygous variants of the AUH gene, including c.677G>A (p.R226H) and c.373C>T (p.R125W), which were respectively inherited from his parents. Based on the American college of Medical Genetics and Genomics (ACMG) standards and guidelines, the c.677G>A (P.r226h) variant was predicted as variant of uncertain significance (PM2+PP4+PP3), whilst the c.373C>T (P.R125W) variant was predicted as likely pathogenic (PM1+PM2+PP3+PP4). CONCLUSION: The child had XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I due to biallelic pathogenic variants of the AUH gene.

Comparative analysis and influencing factors of hospitalization expenses of three single diseases in a tertiary Class A general hospital.

OBJECTIVE: To compare the hospitalization expenses among three single diseases in The First Affiliated Hospital of Hebei North University (a tertiary Class A general hospital), and analyze the factors affecting hospitalization costs, so as to provide some basis for controlling the unreasonable increase of hospitalization expenses as well as to render references for medical management. METHODS: By retrospective investigation, we selected the basic information of inpatient medical records and detailed billing of patients hospitalized in our hospital from Jan. 1, 2016 to Dec. 31, 2018. The collected data were sorted based on the International Classification of Diseases (ICD-10). Finally, 1,199 cases of frequently-occurring diseases and common illnesses such as rectal cancer (RC), nodular goiter (NG) and chronic renal failure (hemodialysis, HD) (CRF) were selected to conduct descriptive statistics on influencing factors and cost structure. The influencing factors of hospitalization expenses were identified by one-way analysis of variance (ANOVA) and multiple linear regression analysis. RESULTS: The hospitalization cost of inpatients with RC or CRF (HD) mainly spent on drugs, diagnosis and materials. As to NG, the cost of surgery, diagnosis and materials were the main components of hospitalization costs. Occupation and length of stay (LOS) were identified as the main influencing factors of hospitalization expenses for RC patients. While age and LOS were the main influencing factors of hospitalization cost for NG patients, and LOS alone for patients with CRF (HD). A across-sectional study was conducted on the CRF (HD) patients over 60 years old. CONCLUSIONS: In order to reasonably control inpatient medical expenses, comprehensive intervention should be carried out in clinical work, from rational drug use and selection of consumables, to shorten the hospitalization days to an appropriate level and reduce the waste of medical resources.

HLB induce changes in the tree physiology of citron (Citrus medica L. var. sarcodactylis Swingle).

Huanglongbing (HLB) is a highly destructive disease that decreases the yield and quality of Citrus medica L. var. sarcodactylis Swingle (C. medica var. sarcodactylis) and poses a great threat to the development of the global citrus industry. To explore the influence of HLB infection on C. medica var. sarcodactylis, levels of photosynthetic pigments, malondialdehyde (MDA), and carbohydrates, as well as antioxidant enzyme activities, were measured. The results show that HLB infection decreased photosynthetic pigment content, increased MDA content and antioxidant enzyme activities, and caused various changes in carbohydrate levels in stem, fruit, and leaf tissues. Transcriptomic analysis of C. medica var. sarcodactylis was also used to identify key genes related to the carbohydrate metabolic synthesis pathway in C. medica var. sarcodactylis. The C. medica var. sarcodactylis ADP-glucose pyrophosphorylase1 (CmAGP1), CmAGP2, C. medica var. sarcodactylis Granule-bound starch synthase (CmGBSS), C. medica var. sarcodactylis Sucrose synthases1 (CmSUS1), CmSUS2, C. medica var. sarcodactylis Sucrose phosphate synthase (CmSPS), C. medica var. sarcodactylis alkaline/neutral invertase1 (CmNi1), CmNi2, CmNi3 and CmNi4 were successfully cloned and identified, and differential expression analysis showed that HLB infection significantly upregulated these genes in stems and leaves. In conclusion, HLB infection causes cellular damage, a reduction in photosynthetic capacity, decreased pathogen resistance, and severe disorders in carbohydrate metabolism in C. medica var. sarcodactylis. Supplementary Information: The online version contains supplementary material available at 10.1007/s12298-022-01129-z.

The value of prenatal magnetic resonance imaging and postnatal follow-up using Gesell Developmental Schedules score for mild-to-moderate simple bilateral fetal ventriculomegaly.

OBJECTIVE: To investigate the relationship of mild-to-moderate simple bilateral fetal ventriculomegaly with postnatal neurological development. METHODS: Cases of simple lateral ventricular dilatation (273) were divided into bilateral mild dilatation (10.0-12.0 mm, 62), bilateral moderate dilatation (12.1-15.0 mm, 29), unilateral mild dilatation (133), and unilateral moderate dilatation (49) groups. The control group comprised 50 normal fetuses. Neurological development was assessed using Gesell Developmental Schedules (GDS) at postnatal 3, 6, 12, and 18 months. RESULTS: At postnatal 6, 12, and 18 months, the GDS score was higher for bilateral than for unilateral dilatation (p < .05). At postnatal 3 and 6 months, the GDS score was higher for the bilateral dilatation groups than for the control group (p < .05). At postnatal 6, 12, and 18 months, the GDS score was higher for the bilateral moderate dilatation group than for the unilateral moderate dilatation group (p < .05). Further, at postnatal 3, 6, 12, and 18 months, the GDS score was higher for the bilateral moderate dilatation group than for the control group (p < .05). CONCLUSION: At postnatal month 6, the GDS evaluation results of the bilateral dilatation groups were significantly inferior compared to those of the unilateral dilatation group.

Inhibiting Cardiac Mitochondrial Fatty Acid Oxidation Attenuates Myocardial Injury in a Rat Model of Cardiac Arrest.

Mitochondrial fatty acid oxidation (FAO) is involved in myocardial damage after cardiopulmonary resuscitation (CPR). This study is aimed at investigating the effect of inhibiting mitochondrial FAO on myocardial injury and the underlying mechanisms of postresuscitation myocardial dysfunction. Rats were induced, subjected to 8 min of ventricular fibrillation, and underwent 6 min of CPR. Rats with return of spontaneous circulation (ROSC) were randomly divided into the Sham group, CPR group, and CPR + Trimetazidine (TMZ) group. Rats in the CPR + TMZ group were administered TMZ (10 mg/kg) at the onset of ROSC via the right external jugular vein, while rats in the CPR group were injected with equivalent volumes of vehicle. The sham rats were only administered equivalent volumes of vehicle. We found that the activities of enzymes related to cardiac mitochondrial FAO were partly improved after ROSC. TMZ, as a reversible inhibitor of 3-ketoacyl CoA thiolase, inhibited myocardial mitochondrial FAO after ROSC. In the CPR + TMZ group, the levels of mitochondrial injury in cardiac tissue were alleviated following attenuated myocardial damage and oxidative stress after ROSC. In addition, the disorder of cardiac mitochondrial metabolism was ameliorated, and specifically, the superfluous succinate related to mitochondrial reactive oxygen species (ROS) generation was decreased by inhibiting myocardial mitochondrial FAO with TMZ administration after ROSC. In conclusion, in the early period after ROSC, inhibiting cardiac mitochondrial FAO attenuated excessive cardiac ROS generation and preserved myocardial function, probably by alleviating the dysfunction of cardiac mitochondrial metabolism in a rat model of cardiac arrest.

Optimal networks for dynamical spreading.

The inverse problem of finding the optimal network structure for a specific type of dynamical process stands out as one of the most challenging problems in network science. Focusing on the susceptible-infected-susceptible type of dynamics on annealed networks whose structures are fully characterized by the degree distribution, we develop an analytic framework to solve the inverse problem. We find that, for relatively low or high infection rates, the optimal degree distribution is unique, which consists of no more than two distinct nodal degrees. For intermediate infection rates, the optimal degree distribution is multitudinous and can have a broader support. We also find that, in general, the heterogeneity of the optimal networks decreases with the infection rate. A surprising phenomenon is the existence of a specific value of the infection rate for which any degree distribution would be optimal in generating maximum spreading prevalence. The analytic framework and the findings provide insights into the interplay between network structure and dynamical processes with practical implications.

Network temporality can promote and suppress information spreading.

Temporality is an essential characteristic of many real-world networks and dramatically affects the spreading dynamics on networks. In this paper, we propose an information spreading model on temporal networks with heterogeneous populations. Individuals are divided into activists and bigots to describe the willingness to accept the information. Through a developed discrete Markov chain approach and extensive numerical simulations, we discuss the phase diagram of the model and the effects of network temporality. From the phase diagram, we find that the outbreak phase transition is continuous when bigots are relatively rare, and a hysteresis loop emerges when there are a sufficient number of bigots. The network temporality does not qualitatively alter the phase diagram. However, we find that the network temporality affects the spreading outbreak size by either promoting or suppressing, which relies on the heterogeneities of population and of degree distribution. Specifically, in networks with homogeneous and weak heterogeneous degree distribution, the network temporality suppresses (promotes) the information spreading for small (large) values of information transmission probability. In networks with strong heterogeneous degree distribution, the network temporality always promotes the information spreading when activists dominate the population, or there are relatively fewer activists. Finally, we also find the optimal network evolution scale, under which the network information spreading is maximized.

Long Non-Coding RNA GATA6-AS1 Sponges miR-324-5p to Inhibit Lung Cancer Cell Proliferation and Invasion.

BACKGROUND: Long non-coding RNAs (lncRNAs), which are key regulators of gene expression, are involved in lung cancer progression. Although numerous differentially expressed lncRNAs have been reported, merely a limited number of studies have been performed to verify their functions in lung cancer. METHODS: RNA sequencing data were re-analyzed to investigate the GATA6-AS1 expression in lung cancer. RT-qPCR was performed to verify the expression of GATA6-AS1 in collected tissue samples and cell lines. CCK-8 and transwell assays were carried out to evaluate the role of GATA6-AS1 in lung cancer cells. Dual-luciferase reporter assay and bioinformatic analysis were used to explore the miRNA which can be sponged by GATA6-AS1 in lung cancer cells. RESULTS: Currently, we focused on exploring the role and mechanisms of GATA6-AS1 in lung cancer. Expression of GATA6-AS1 was decreased in lung cancer based on the analysis of RNA sequencing dataset, TCGA data and RT-qPCR of clinical tissue samples. Via overexpression of GATA6-AS1, it was revealed that GATA6-AS1 inhibited lung cancer cell proliferation and invasion. Oncogene miR-324-5p was predicted to interact with GATA6-AS1. RT-qPCR and dual-luciferase reporter assay verified the regulation of miR-324-5p by GATG6-AS1 in lung cancer cells. Overexpression of GATA6-AS1 increased the expression of FBXO11 and SP1, two target genes of miR-324-5p. We further showed that miR-324-5p mimic reversed the effect of GATA6-AS1 overexpression in lung cancer cells. CONCLUSION: Overall, our findings demonstrated GATA6-AS1 as a novel tumor suppressor in lung cancer.

[Identification of LINS1 gene variant in a patient with severe mental retardation].

OBJECTIVE: To explore the genetic basis of a child with idiopathic mental retardation. METHODS: Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS). RESULTS: No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance. CONCLUSION: A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.

4-Hydroxyphenylpyruvate Dioxygenase-Like Protein Promotes Pancreatic Cancer Cell Progression and Is Associated With Glutamine-Mediated Redox Balance.

Tumor cells develop a series of metabolic reprogramming mechanisms to meet the metabolic needs for tumor progression. As metabolic hubs in cells, mitochondria play a significant role in this process, including energy production, biosynthesis, and redox hemostasis. In this study, we show that 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL), a previously uncharacterized protein, is positively associated with the development of pancreatic ductal adenocarcinoma (PDAC) and disease prognosis. We found that overexpression of HPDL in PDAC cells promotes tumorigenesis in vitro, whereas knockdown of HPDL inhibits cell proliferation and colony formation. Mechanistically, we found that HPDL is a mitochondrial intermembrane space localized protein that positively regulates mitochondrial bioenergetic processes and adenosine triphosphate (ATP) generation in a glutamine dependent manner. Our results further reveal that HPDL protects cells from oxidative stress by reprogramming the metabolic profile of PDAC cells toward glutamine metabolism. In short, we conclude that HPDL promotes PDAC likely through its effects on glutamine metabolism and redox balance.

Efficacy of Sinus Tarsal Approach Compared With Conventional L-Shaped Lateral Approach in the Treatment of Calcaneal Fractures: A Meta-Analysis.

Background: This study aims to compare the efficacy of the sinus tarsal approach (STA) with that of the conventional L-shaped lateral approach (CLSLA) in the treatment of calcaneal fractures by meta-analysis. Methods: PubMed, Embase, Web of Science, the Chinese National Knowledge Infrastructure, and China Wanfang database were searched to collect clinical randomized or non-randomized controlled trials of STA and CLSLA in the treatment of calcaneal fractures from January 2010 to May 2020. The data were analyzed by Stata 15.0 software. Results: A total of 12 clinical trials were included, all of which were retrospective studies, including 961 patients. The results showed that when STA was compared with CLSLA, there was no difference in operation time with mean difference (MD) = -5.51 [95% confidence interval (CI): -12.57 to 1.55, P > 0.05], less bleeding during operation with MD = -18.49 (95% CI:-23.79 to -13.18), no difference in Böhler angle after an operation with MD = 0.78 (95% CI: -0.09 to 1.65) and in Gissane angle with MD = -0.07 (95% CI: -1.90 to 1.77), no difference in American Orthopedic Foot and Ankle Society score with MD = 2.16 (95% CI: -1.07 to 5.38), higher-excellent and better rate of Maryland food function with relative ratio = 1.12 (95% CI: 1.04 to 1.20), and lower of incidence of postoperative complications with relative ratio = 0.23 (95% CI: 0.14-0.37). Conclusion: STA was more effective than CLSLA in the treatment of calcaneal fractures. Moreover, STA had advantages in less intraoperative bleeding, higher-excellent and better rate of Maryland foot function, lower incidence of postoperative complications, and higher safety.

Misinformation spreading on correlated multiplex networks.

The numerous expanding online social networks offer fast channels for misinformation spreading, which could have a serious impact on socioeconomic systems. Researchers across multiple areas have paid attention to this issue with a view of addressing it. However, no systematical theoretical study has been performed to date on observing misinformation spreading on correlated multiplex networks. In this study, we propose a multiplex network-based misinformation spreading model, considering the fact that each individual can obtain misinformation from multiple platforms. Subsequently, we develop a heterogeneous edge-based compartmental theory to comprehend the spreading dynamics of our proposed model. In addition, we establish an analytical method based on stability analysis to obtain the misinformation outbreak threshold. On the basis of these theories, we finally analyze the influence of different dynamical and structural parameters on the misinformation spreading dynamics. Results show that the misinformation outbreak size R(∞) grows continuously with the effective transmission probability ß once ß exceeds a certain value, that is, the outbreak threshold ßc. Large average degrees, strong degree heterogeneity, or positive interlayer correlation will reduce ßc, accelerating the outbreak of misinformation. Besides, increasing the degree heterogeneity or a more positive interlayer correlation will enlarge (reduce) R(∞) for small (large) values of ß. Our systematic theoretical analysis results agree well with the numerical simulation results. Our proposed model and accurate theoretical analysis will serve as a useful framework to understand and predict the spreading dynamics of misinformation on multiplex networks and thereby pave the way to address this serious issue.

[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders].

OBJECTIVE: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. METHODS: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. RESULTS: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. CONCLUSION: A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

Optimizing spreading dynamics in interconnected networks.

Adding edges between layers of interconnected networks is an important way to optimize the spreading dynamics. While previous studies mostly focused on the case of adding a single edge, the theoretical optimal strategy for adding multiple edges still need to be studied. In this study, based on the susceptible-infected-susceptible model, we investigate the problem of maximizing the stationary spreading prevalence in interconnected networks. For two isolated networks, we maximize the spreading prevalence near the critical point by choosing multiple interconnecting edges. We present a theoretical analysis based on the discrete-time Markov chain approach to derive the approximate optimal strategy. The optimal interlayer structure predicted by the strategy maximizes the spreading prevalence, meanwhile minimizing the spreading outbreak threshold for the interconnected network simultaneously. Numerical simulations on synthetic and real-world networks show that near the critical point, the proposed strategy gives better performance than connecting large degree nodes and randomly connecting.

Optimal interlayer structure for promoting spreading of the susceptible-infected-susceptible model in two-layer networks.

Real-world systems, ranging from social and biological to infrastructural, can be modeled by multilayer networks. Promoting spreading dynamics in multilayer networks may significantly facilitate electronic advertising and predicting popular scientific publications. In this study, we propose a strategy for promoting the spreading dynamics of the susceptible-infected-susceptible model by adding one interconnecting edge between two isolated networks. By applying a perturbation method to the discrete Markovian chain approach, we derive an index that estimates the spreading prevalence in the interconnected network. The index can be interpreted as a variant of Katz centrality, where the adjacency matrix is replaced by a weighted matrix with weights depending on the dynamical information of the spreading process. Edges that are less infected at one end and its neighborhood but highly infected at the other will have larger weights. We verify the effectiveness of the proposed strategy on small networks by exhaustively examining all latent edges and demonstrate that performance is optimal or near-optimal. For large synthetic and real-world networks, the proposed method always outperforms other static strategies such as connecting nodes with the highest degree or eigenvector centrality.