Seizure Pathways Changes at the Subject-Specific Level via Dynamic Step Effective Network Analysis.

The variability in the propagation pathway in epilepsy is a main factor contributing to surgical treatment failure. Ways to accurately capture the brain propagation network and quantitatively assess its evolution remain poorly described. This work aims to develop a dynamic step effective network (dSTE) to obtain the propagation path network of multiple seizures in the same patient and explore the degree of dissimilarity. Multichannel stereo-electroencephalography (sEEG) signals were acquired with ictal processes involving continuous changes in information propagation. We utilized high-order dynamic brain networks to obtain propagation networks through different levels of linking steps. We proposed a dissimilarity index based on singular value decomposition to quantitatively compare seizure pathways. Simulated data were generated through The Virtual Brain, and the reliability of this method was verified through ablation experiments. By applying the proposed method to two datasets consisting of 29 patients total, the evolution processes of each patient's seizure networks was obtained, and the within-patient dissimilarities were quantitatively compared. Finally, three types of brain network connectivity patterns were found. Type I patients have a good prognosis, while type III patients are prone to postoperative recurrence. This method captures the evolution of seizure propagation networks and assesses their dissimilarity more reliably than existing methods, demonstrating good robustness for studying the propagation path differences for multiple seizures in epilepsy patients. The three different patterns will be important considerations when planning epilepsy surgery under sEEG guidance.

Abnormal and Changing Information Interaction in Adults with Attention-Deficit/Hyperactivity Disorder Based on Network Motifs.

Network motif analysis approaches provide insights into the complexity of the brain's functional network. In recent years, attention-deficit/hyperactivity disorder (ADHD) has been reported to result in abnormal information interactions in macro- and micro-scale functional networks. However, most existing studies remain limited due to potentially ignoring meso-scale topology information. To address this gap, we aimed to investigate functional motif patterns in ADHD to unravel the underlying information flow and analyze motif-based node roles to characterize the different information interaction methods for identifying the abnormal and changing lesion sites of ADHD. The results showed that the interaction functions of the right hippocampus and the right amygdala were significantly increased, which could lead patients to develop mood disorders. The information interaction of the bilateral thalamus changed, influencing and modifying behavioral results. Notably, the capability of receiving information in the left inferior temporal and the right lingual gyrus decreased, which may cause difficulties for patients in processing visual information in a timely manner, resulting in inattention. This study revealed abnormal and changing information interactions based on network motifs, providing important evidence for understanding information interactions at the meso-scale level in ADHD patients.

Subject-Independent EEG Classification of Motor Imagery Based on Dual-Branch Feature Fusion.

A brain computer interface (BCI) system helps people with motor dysfunction interact with the external environment. With the advancement of technology, BCI systems have been applied in practice, but their practicability and usability are still greatly challenged. A large amount of calibration time is often required before BCI systems are used, which can consume the patient's energy and easily lead to anxiety. This paper proposes a novel motion-assisted method based on a novel dual-branch multiscale auto encoder network (MSAENet) to decode human brain motion imagery intentions, while introducing a central loss function to compensate for the shortcomings of traditional classifiers that only consider inter-class differences and ignore intra-class coupling. The effectiveness of the method is validated on three datasets, namely BCIIV2a, SMR-BCI and OpenBMI, to achieve zero calibration of the MI-BCI system. The results show that our proposed network displays good results on all three datasets. In the case of subject-independence, the MSAENet outperformed the other four comparison methods on the BCIIV2a and SMR-BCI datasets, while achieving F1_score values as high as 69.34% on the OpenBMI dataset. Our method maintains better classification accuracy with a small number of parameters and short prediction times, and the method achieves zero calibration of the MI-BCI system.

Artificial Intelligence Algorithm-Based Computed Tomography Images in the Evaluation of the Curative Effect of Enteral Nutrition after Neonatal High Intestinal Obstruction Operation.

In this study, CT image technology based on level set intelligent segmentation algorithm was used to evaluate the postoperative enteral nutrition of neonatal high intestinal obstruction and analyze the clinical treatment effect of high intestinal obstruction, so as to provide a reasonable research basis for the clinical application of neonatal high intestinal obstruction. 60 children with high intestinal obstruction treated in the hospital were selected as the research objects. Based on the postoperative enteral nutrition treatment, they were divided into control group (noncatheterization group)-parenteral nutrition support. In the observation group, gastric tube was placed through nose for nutritional support. Then, CT images based on level set segmentation algorithm were used to compare the intestinal recovery of the two groups, and the biochemical indexes and hospitalization were compared. The level set algorithm can accurately segment the lesions in CT images. The segmentation time of the level set algorithm was shorter than that of the traditional algorithm (24.34 ± 2.01 s vs. 75.21 ± 5.91 s), and the segmentation accuracy was higher than that of the traditional algorithm (84.71 ± 3.91% vs. 70.04 ± 3.71%, P < 0.05). The weight of children in the observation group (100 ± 7 g) was higher than that in the control group (54 ± 5 g), and the ICU monitoring time (12.01 ± 2.65 days) and the hospital stay (17.82 ± 3.11 days) were shorter than those in the control group (13.42 ± 2.95 days, 19.13 ± 3.22 days, all P < 0.05). The level set segmentation algorithm can accurately segment the CT image, so that the disease location and its contour can be displayed more clearly. Moreover, the nasal placement of jejunal nutrition tube can effectively improve the intestinal function of children, maintain the steady-state environment of intestinal bacterial growth, and significantly improve the clinical treatment effect, which is worthy of clinical application and promotion.

Five years follow-up of juvenile lupus nephritis: a single-center retrospective cohort study.

BACKGROUND: We analyze the clinical manifestations and 5 years of follow-up outcomes of children with lupus nephritis (LN) and provide a reference for clinicians. METHODS: The clinical data of children diagnosed with LN (n=62) from January 2012-2015 were collected and analyzed. RESULTS: The median age at the diagnosis was 12.0 years. The female to male ratio was 3.4:1. The most prevalent clinical features were mucocutaneous involvement and hematological involvement. Renal biopsy was performed on 38 patients. Class IV and class V were the most common findings. The lupus activity was improved markedly after 3 months treatment. The rate of survival was 98.3% in 5 years. The most common side effects of corticosteroid and other immunosuppressive agent drug treatment were corticosteroid-related hypertension and high intraocular pressure. The rate of cataracts, osteoporotic fracture, and visual field defects increased as the treatment progressed. Especially, the incidence of visual field defects in children is higher than adults. CONCLUSIONS: The LN children showed a good prognosis. During the follow-up process, the adverse drug reactions, such as hormone-related hypertension and ocular hypertension, especially the visual field defects caused by hydroxychloroquine, cannot be excluded. However, multicenter long term follow-up studies are essential to substantiate the current data.

Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.

BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients. METHODS: Primary immunodeficiency disease panel or whole-exome sequencing was performed for suspected cases, and assays for adenosine deaminase 2 (ADA2) enzyme activity were also carried out for the patients and their parents. Case reports of Chinese and non-Chinese patients with DADA2 were searched in PubMed and Chinese national databases. RESULTS: Seven unrelated children from China with DADA2 were included in our study. Five were identified at Peking Union Medical College Hospital, and two had been reported previously (1 on PubMed and 1 in Chinese literature). Fourteen mutations in ADA2 were identified, 7 of which have not previously been reported in non-Chinese patients. Four children who underwent enzymatic analysis had lower ADA2 activity compared with their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, and neurologic involvement. Treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on phenotype and severity. CONCLUSION: This study includes the largest number of Chinese DADA2 patients to date. We recommend the combination of enzymatic analysis with gene screening to confirm the diagnosis. Different genotypes were observed among Chinese DADA2 patients; most phenotypes were similar to those of non-Chinese DADA2 patients, except for growth retardation. Disease remission might not be achieved with anti-IL-6 therapy.

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Objective: Monogenic autoinflammatory diseases (AIDs) are inborn disorders caused by innate immunity dysregulation and characterized by robust autoinflammation. We aimed to present the phenotypes and genotypes of Chinese pediatric monogenic AID patients. Methods: A total of 288 pediatric patients clinically suspected to have monogenic AIDs at the Department of Pediatrics of Peking Union Medical College Hospital between November 2008 and May 2019 were genotyped by Sanger sequencing, and/or gene panel sequencing and/or whole exome sequencing. Final definite diagnoses were made when the phenotypes and genotypes were mutually verified. Results: Of the 288 patients, 79 (27.4%) were diagnosed with 18 kinds of monogenic AIDs, including 33 patients with inflammasomopathies, 38 patients with non-inflammasome related conditions, and eight patients with type 1 interferonopathies. Main clinical features were skin disorders (76%), musculoskeletal problems (66%), fever (62%), growth retardation (33%), gastrointestinal tract abnormalities (25%), central nervous system abnormalities (15%), eye disorders (16%), ear problems (9%), and cardiopulmonary disorders (8%). The causative genes were ACP5, ADA2, ADAR1, IFIH1, LPIN2, MEFV, MVK, NLRC4, NLRP3, NLRP12, NOD2, PLCG2, PSMB8, PSTPIP1, TMEM173, TNFAIP3, TNFRSF1A, and TREX1. Conclusions: The present study summarized both clinical and genetic characteristics of 18 kinds of monogenic AIDs found in the largest pediatric AID center over the past decade, with fever, skin problems, and musculoskeletal system disorders being the most prevalent clinical features. Many of the mutations were newly discovered. This is by far the first and largest monogenic AID report in Chinese pediatric population and also a catalog of the phenotypic and genotypic features among these patients.

The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) has many clinical features overlapping with familial Mediterranean fever (FMF), which is caused by mutations in MEFV gene. And FMF patients were easily misdiagnosed as sJIA in China. So we speculate that MEFV is critical genetic background for sJIA and influences patients' severity. In this study, we aim to figure out whether MEFV mutations are risk factor for the occurrence of sJIA and to study the association of MEFV mutations with disease severity of sJIA patients. METHODS: The present study includes 57 sJIA children and 2573 healthy controls. Odd ratio with 95% confidence interval based on allelic frequency of MEFV mutations or variants was used to evaluate their contribution to sJIA susceptibility. Meta-analysis was then performed to reach comprehensive conclusion. All included sJIA patients were grouped by presence and number of MEFV mutations. Clinical data and indicators of disease severity were compared among different groups. Multiple linear regression method was used to find out whether the number of MEFV variants is associated with the severity of sJIA. Kaplan-Meier curves and log rank test were used to estimate the probability of the first relapse. RESULTS: The MEFV mutations of our subjects predominantly existed in exons 2 and 3. No significant difference was found in allelic frequency between sJIA children and healthy controls. Meta-analysis demonstrated that p.M694V/I was a risk factor for sJIA (pooled OR: 7.13, 95% CI: 3.01-16.89). The relative period of activity was significantly lower in the one mutation group than those with more than one mutation (p = 0.0194). However, no relevance was found in multiple linear regression models. CONCLUSIONS: The mutation p.M694V/I in MEFV might be a risk factor for sJIA. SJIA patients carrying more than one heterozygous mutation in MEFV tend to be more severe than those containing only one, but studies in other cohort of patients need to be performed to validate it.

Characterization of microbiota in systemic-onset juvenile idiopathic arthritis with different disease severities.

BACKGROUND: Systemic-onset juvenile idiopathic arthritis (SoJIA) is one of most serious subtypes of juvenile idiopathic arthritis. Although the pathogenesis of SoJIA remains unclear, several studies have suggested a correlation between gut dysbiosis and JIA. Further understanding of the intestinal microbiome may help to establish alternative ways to treat, or even prevent, the disease. AIM: To explore alterations in fecal microbiota profiles in SoJIA patients and to evaluate the correlations between microbiota and clinical parameters. METHODS: We conducted an observational single-center study at the Pediatric Department of Peking Union Medical College Hospital. Children who were diagnosed with SoJIA at our institution and followed for a minimum period of six months after diagnosis were recruited for the study. Healthy children were recruited as a control group (HS group) during the same period. Clinical data and stool samples were collected from SoJIA patients when they visited the hospital. RESULTS: The SoJIA group included 17 active and 15 inactive consecutively recruited children; the control group consisted of 32 children. Firmicutes and Bacteroidetes were the two most abundant phyla among the total sample of SoJIA children and controls. There was a significant difference among the three groups in observed species, which was the highest in the Active-SoJIA group, followed by the Inactive-SoJIA group and then HS group (Active-SoJIA vs HS: P = 0.000; and Inactive-SoJIA vs HS: P = 0.005). We observed a lower Firmicutes/Bacteroidetes ratio in SoJIA patients (3.28 ± 4.47 in Active-SoJIA, 5.36 ± 8.39 in Inactive-SoJIA, and 5.67 ± 3.92 in HS). We also observed decreased abundances of Ruminococcaceae (14.9% in Active-SoJIA, 17.3% in Inactive-SoJIA, and 22.8% in HS; Active-SoJIA vs HS: P = 0.005) and Faecalibacterium (5.1% in Active-SoJIA, 9.9% in Inactive-SoJIA, and 13.0% in HS; Active-SoJIA vs HS: P = 0.000) in SoJIA compared with HS. By contrast, the abundance of Bacteroidaceae was the highest in the Active-SoJIA group, followed by the Inactive-SoJIA and HS groups (16.5% in Active-SoJIA, 12.8% in Inactive-SoJIA, and 9.7% in HS; Active-SoJIA vs HS: P = 0.03). The Spearman correlation analysis revealed a negative correlation between Proteobacteria or Enterobacteriaceae and juvenile arthritis disease activity score on 27 joints (JADAS-27). CONCLUSION: The composition of the intestinal microbiota is different in SoJIA patients compared with healthy children. The dysbiosis presents partial restoration in inactive status patients.

[A clinical analysis of 15 children with systemic lupus erythematosus accompanied by pulmonary hypertension].

OBJECTIVE: To evaluate the clinical features, laboratory findings, diagnosis and treatment, and prognosis of children with systemic lupus erythematosus (SLE) accompanied by pulmonary hypertension (PH). METHODS: The clinical symptoms, laboratory findings, echocardiographic features, SLE disease activity index, and treatment outcome of 15 hospitalized children with SLE accompanied by PH were retrospectively analyzed. RESULTS: Among the 15 patients, the median interval from diagnosis of SLE to diagnosis of PH was 0.1 year (range: 0-6.5 years). Aside from PH-related symptoms, Raynaud's phenomenon was observed in 6 (40%) of the 15 patients. There was no significant difference in SLE disease activity (evaluated by complements 3 and 4 levels, erythrocyte sedimentation rate, and positive rate of anti-double-stranded DNA) between patients with mild-to-moderate PH and those with severe PH (P<0.05). As for treatment, 13 patients received immunosuppressive therapy with glucocorticoids, and among them 2 patients received PH-targeted therapy. During a median follow-up of 8.0 years (range: 0.5-18.1 years) since the diagnosis of PH, 2 deaths were noted with class III or IV cardiac function (World Health Organization), while the other patients were in a stable condition. CONCLUSIONS: Raynaud's phenomenon is a common clinical manifestation in children with SLE accompanied by pulmonary hypertension (PH). PH severity is not significantly associated with SLE disease activity, and thus greater focus should be placed upon early screening of pulmonary arterial pressure in SLE patients. Early diagnosis and early treatment can improve the prognosis of children with SLE.

Knowledge, attitude, and practices (KAP) and risk factors analysis related to cystic echinococcosis among residents in Tibetan communities, Xiahe County, Gansu Province, China.

Cystic echinococcosis (CE) is a global parasitic zoonosis caused by Echinococcus granulosus. The disease is highly endemic in western China, especially in Tibetan areas, because of poor economic development and hygiene conditions, limited community knowledge of CE, a large scale of dogs, and home slaughtering of livestock. Although many researchers have analyzed risk factors of CE transmission in Tibetan Plateau, there are rare reports of knowledge, attitude, and practice (KAP) of residents about CE in Tibetan communities. In our current study, community based cross-sectional study was conducted in three townships in Xiahe County, Gannan Tibetan Autonomous Prefectures of Gansu Province from May to September 2013. A total of 972 participants originating from Tibetan communities of 31 villages in the 3 townships were registered and data were collected using structured questionnaires. From the total of 972 study participants (457 males and 515 females), 65.9% heard of the disease CE. Most of them (96.1%) would like to accept CE inspection. About half of the peoples feed their dogs often and major of them do not play with the dogs. Risk factors included resident, knowing dog could be infected, knowing eating could be route of infection, oldest dog's age, usually feed your dog by self, feed dogs with internal organs. In general our findings showed that most of residents had positive attitude toward treatments of the disease, but their practice about disease prevention and control was low. Therefore, our study called for continued and strengthened education of changing the life style, especially the behaviors related to dogs.

P1 gene of Mycoplasma pneumoniae in clinical isolates collected in Beijing in 2010 and relationship between genotyping and macrolide resistance.

BACKGROUND: Mycoplasma pneumoniae is a common pathogen that caused community-acquired pneumonia (CAP). P1 protein served as major adhesion and immunodominant protein in Mycoplasma pneumoniae, but little about P1 gene was learned and the relationship between P1 genotype and macrolide resistance has yet to be explored. METHODS: The DNA sequence of the entire P1 gene from 35 strains isolated from clinical specimens collected in Beijing, China, in 2010 was determined. The resulting sequences were checked for known macrolide resistance mutations, such as A2063G, A2064G, C2617G in domain V of 23S rRNA. Antibiotic susceptibility test was done to further identify macrolide resistant strains. RESULTS: Thirty-four clinical strains were type 1, and were identical to type 1 reference strain MP129. Only one clinical strain, MpYYM22, was type 2, and proved to be variant 2c. One synonymous point mutation in the P1 type 1 gene from two isolates was identified relative to the MP129 P1 sequence at nucleotide position (nt) 552 (C>A), while another two isolates had missense mutations at nt 2504 (G>A). This point mutation caused an amino acid change from glycine to glutamic acid. An AGT tri-nucleotide variable-number tandem repeat (VNTR), coding for serine and repeating 6-11 times, up to 15-16 times, was found in the region between the RepMP4 and RepMP2/3 elements in the 35 isolates examined. All 35 clinical strains, including MpYYM22, demonstrated macrolide resistance with the range of minimum inhibitory concentration (MIC) of erythromycin from 64 to 256 µg/ml, having an A2063G transition in domain V of the 23S rRNA gene. CONCLUSIONS: P1 type 1 was the dominant type of Mycoplasma pneumoniae in Beijing in 2010, although variant 2c strains were present. More samples are needed to determine whether there is a relationship between the P1 genotype and macrolide resistance, as the 35 strains examined did not allow a conclusive result. However, the AGT tri-nucleotide VNTR may be a more informative locus for multi-locus VNTR analysis.