Objective:To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods:The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1 (FGLDS1) associated with chromosome 2p24.3p24.2 microdeletion were collected. The clinical and genetic variation characteristics of the patient were summarized, and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results:The boy was 12 years and 5 months old. He presented with backward physical development, motor development retardation, low intelligence, special body and facial appearance, finger developmental deformity and other manifestations, accompanied by hyperactivity and aggressive behavior, impulsive irritability, self-injury and other behavior problems. The proband showed normal chromosome karyotype; the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region, and 10 genes including MYCN gene (exons 1 to 3) in the deleted region.The same deletion was not found in either of his parents. The genetic features of 11 cases (including this case) with chromosome 2p microdeletion were summarized, all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion, and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1. Conclusion:The proband is consistent with the clinical presentation of the typical Feingold syndrome, and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.

Objective:To explore the mechanism of peritoneal dialysis solution (PDS)-induced peritoneal microinflammation through activation of ceramide (CER) in peritoneal dialysis model mice.Methods:Thirty 5-week-old male C57BL/6 mice weighing about 22 g were used to set up peritoneal dialysis models, and then were randomly divided into 4 groups: sham operation group (1.5 ml sterilized water, n=7), high glucose-PDS group (1.5 ml 4.25% PDS, n=8), high glucose-PDS+ acid sphingomyelinase (ASMase) inhibitor desipramine (DES) group (1.5 ml sterilized water+10 mg/kg DES, n=8), high glucose-PDS+Src kinase inhibitor PP2 group (1.5 ml sterilized water +1 mg/kg PP2, n=7), with intraperitoneal injection once a day. After 28 days, the mice were sacrificed to retain peritoneal tissues. HE staining and Masson staining were used to observe the histological changes of peritoneum. Immunohistochemistry was used to detect the Toll-like receptor 4 (TLR4) and macrophages. High performance liquid chromatography, liquid chromatography/mass spectrometry and immunofluorescence were used to detect the expression of ASMase and CER. Real-time quantitative PCR was used to detect the mRNA levels of c-Src, p-Src, interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α). Western blotting was used to detect the protein levels of c-Src, and p-Src. Enzyme-linked immunosorbent assay was used to detect the serum C reactive protein (CRP), IL-6 and TNF-α. Results:(1) High glucose-PDS led to peritoneal hyperplasia, collagen deposition and fibrosis in the peritoneal dialysis mice, indicating successful modeling. Compared with high glucose-PDS group, peritoneal hyperplasia, collagen deposition and fibrosis of mice treated with DES and PP2 were significantly improved (all P<0.05). (2) Compared with sham operation group, ASMase activation and CER level of peritoneal tissues were significantly higher in high glucose-PDS group, and DES could significantly inhibit activated ASMase and increased CER expression caused by high glucose-PDS (both P<0.05). PP2 had no significant effect on ASMase activation and CER level (both P>0.05). (3) Compared with sham operation group, there were more TLR4 and macrophage positive staining cells in peritoneal tissues in high glucose-PDS group, and the mRNA expression levels of IL-6 and TNF-α in peritoneal tissues and serum CRP, IL-6 and TNF-α were higher (all P<0.05). DES and PP2 could significantly inhibit the increased TLR4, macrophages and related inflammatory factors induced by high glucose-PDS (all P<0.05). (4) Compared with sham operation group, c-Src and p-Src mRNA and protein expression levels of peritoneal tissues in high glucose-PDS group were significantly higher (all P<0.05). PP2 significantly inhibited the increased p-Src mRNA and protein levels caused by high glucose-PDS (both P<0.05), but had no significant effect on the mRNA and protein expression levels of c-Src (both P>0.05). DES had no significant effect on the mRNA and protein expression levels of c-Src and p-Src (all P>0.05). Conclusions:High glucose-PDS may enhance the expression of CER through stimulating the activity of ASMase, phosphorylate Src, activate TLR4 and induce inflammatory damage of peritoneum in peritoneal dialysis model mice.

OBJECTIVE: To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism. METHODS: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger sequencing. RESULTS: WES has identified a heterozygous c.1729G>C (p.G577R) variant of NTRK1 gene and two heterozygous variants of OCA2 gene, namely c.1363A>G (p.R455G) and c.1182+1G>A. WGS has identified two additional heterozygous variants c.(851-798C>T; 851-794C>G) in deep intronic regions of the NTRK1 gene. CONCLUSION The compound heterozygous variants of the NTRK1 gene probably underlay the congenital insensitivity to pain with anhidrosis. And the compound heterozygous variants of the OCA2 gene probably underlay the albinism in the proband. In the case where no variant is detected by WES in the coding region, WGS should be considered to screen potential variants in the whole genome.
Albinism ; Child ; DNA Mutational Analysis ; Hereditary Sensory and Autonomic Neuropathies/genetics* ; Heterozygote ; Humans ; Membrane Transport Proteins ; Mutation ; Pedigree

Objective:To establish a predictive model that can predict the effectiveness and safety of endoscopic surgery for pediatric upper urinary tract calculi, and evaluate its diagnostic efficacy through internal validation.Methods:The data was selected from the prospective database of pediatric upper tract calculi constructed by Beijing Friendship Hospital Affiliated to Capital Medical University from June 2014 to April 2019. A total of 348 children were recruited in this investigation including 250 boys and 98 girls, with a median age of 3.0 years(Interquartile Range 1.4, 7.0 years). Totally 375 endoscopic surgeries were performed, with an overall stone free rate (SFR) of 88.0% (330/375) and complication rate (CR) of 23.2% (87/375). This research used univariate and multivariate logistic regression analysis to evaluate and screen the predictors of SFR and CR. The nomogram of SFR and CR was established by using the selected predictive factors. The differentiation degree of the model was evaluated by the area under the curve (AUC), the consistency between the prediction probability and the actual risk was evaluated by the calibration curve, and the clinical benefits of the model application were assessed by the decision curve.Results:The results of multivariate analysis demonstrated that stone burden, operation duration, intraoperative perfusion, stone location and operative options were the postoperative predictors of SFR and CR for children. Besides, BMI was also a predictor of postoperative CR. The AUC of the model (model 1: SFR; model 2: CR) based on the above predictive factors was 0.81 and 0.73, respectively. The predictive probability of the calibration curve showed that the model had a good consistency with the actual value. The decision curve showed that the application of model 1 to predict SFR had significant clinical benefits when the threshold value was greater than 20%, and the application of model 2 to predict the postoperative CR had a significant clinical benefit when the threshold was greater than 10%.Conclusions:Nomogram based on stone burden, operation time, intraoperative perfusion, stone location and operative options was validated internally with preferable predictive power on the effectiveness and safety of pediatric endoscopic surgery. This model can be used to predict the clinical effects of pediatric endoscopic lithotripsy. BMI was also an important factor for the safety of pediatric endoscopic procedures.

Trauma is the leading cause of death for people under 40 years old in the world. At present, the rescue and treatment system of trauma patients in China is not yet well established, and the mortality of trauma patients is higher than those in the developed countries. Improving the treatment system is the key to reducing the trauma mortality. In order to innovate the service mode of trauma first aid, further promote the establishment of regional trauma first aid system, improve the ability of trauma treatment, reduce the mortality and disability rate of trauma patients in Jiangxi Province, recently Health Commission of Jiangxi Province and the First Affiliated Hospital of Nanchang University have reached a consensus on the establishment of Jiangxi trauma first aid center. In order to provide reference for the construction of trauma treatment system, the author analyzes the following aspects including functional positioning, basic requirements, organization management, and evaluation of core indicators.

Objective To research the clinical characteristics of neonates with non-immune hydrops fetalis.Methods The clinical data of eleven non-immune hydrops fetalis who admitted from January 2015 to November 2016 were retrospectively studied.Imaging manifestations,cause analysis and outcomes were explored and analyzed with descriptive statistical methods.Results The most common abnormal images in this study were hydrothorax,seroperitoneum and subcutaneous edema.Of all the cases,cardiac anomalies were in 2 cases,chylothorax in 3 cases,chromosome abnormality in 1 case,meconium peritonitis in 1 case,bladder rupture in 1 case and unknown reasons in 3 cases.Of all the cases,3 cases were terminated pregnancy before 28 weeks,2 cases were fetal intrauterine death,and 6 cases were live births,among whom 2 cases died within 48 h of newborn and 3 cases survived.Placental pathologic conditions of 8 cases were edematous placentas.Conclusions The mortality of non-immune hydrops fetalis is high.Its etiology,pathogenesis and the timing of pregnancy termination need to be explored.

In cell image sequences, due to the nonlinear and nonGaussian motion characteristics of active cells, the accurate prediction and tracking is still an unsolved problem. We applied extended Kalman particle filter (EKF-PF) here in our study, attempting to solve the problem. Firstly we confirmed the existence and positions of the active cells. Then we established a motion model and improved it via adding motion angle estimation. Next we predicted motion parameters, such as displacement, velocity, accelerated velocity and motion angle, in region centers of the cells being tracked. Finally we obtained the motion traces of active cells. There were fourteen active cells in three image sequences which have been tracked. The errors were less than 2.5 pixels when the prediction values were compared with actual values. It showed that the presented algorithm may basically reach the solution of accurate predition and tracking of the active cells.
Algorithms ; Artificial Intelligence ; Cell Movement ; Cell Tracking ; methods ; Forecasting ; Image Enhancement ; methods ; Image Interpretation, Computer-Assisted ; methods ; Models, Theoretical

Analysis of neural stem cells' movements is one of the important parts in the fields of cellular and biological research. The main difficulty existing in cells' movement study is whether the cells tracking system can simultaneously track and analyze thousands of neural stem cells (NSCs) automatically. We present a novel cells' tracking algorithm which is based on segmentation and data association in this paper, aiming to improve the tracking accuracy further in high density NSCs' image. Firstly, we adopted different methods of segmentation base on the characteristics of the two cell image sequences in our experiment. Then we formed a data association and constituted a coefficient matrix by all cells between two adjacent frames according to topological constraints. Finally we applied The Hungarian algorithm to implement inter-cells matching optimally. Cells' tracking can be achieved according to this model from the second frame to the last one in a sequence. Experimental results showed that this approaching method has higher accuracy compared with that using the topological constraints tracking alone. The final tracking accuracies of average of sequence I and sequence II have been improved 10.17% and 4%, respectively.
Algorithms ; Animals ; Cell Count ; Cell Movement ; Cell Tracking ; statistics & numerical data ; Image Processing, Computer-Assisted ; methods ; Microscopy, Fluorescence ; Models, Theoretical ; Neural Stem Cells ; cytology

ObjectiveToexploretheeffectof ceremideonprocess of peritoneal mesothelial cells(PMCs) apoptosis induced by peritoneal dialysis solution(PDS).Methods PMCs were cultured with normal DMEM,1.5％ PDS and 4.25％ PDS.4.25％ mannitol was used as high osmotic pressure control.Ceremide were detected by LC-MS-MS.Flow cytometry was used in apoptosis analysis.Bax,p53 and bcl-2 protein expressions were detected by Western blotting.Results (1) PDS caused the increase of intracellular ceremide in PMCs,and normal and high osmotic pressure controls had no such effect.As the acidic sphigomyelinase inhibitor,desipramine significantly inhibited the production of ceramide induced by 4.25％ PDS [(56.08±12.24) μg/L vs (91.25:t:15.89) μg/L,P＜0.01]. (2) Compared with 1.5％ PDS,4.25％ PDS stimulated PMCs apoptosis (26.65％±6.21％ vs 4.04％±1.86％,P＜0.01),up-regulated bax and p53 proteins expression (P＜0.01),and down-regulated bcl-2 protein exprssion(P＜0.05).Desipramine obviously inhibited the apoptosis induced by 4.25％ PDS,decreased bax and p53 proteins expression,increased bcl-2 protein expression(P＜0.05).Exogenous C2-ceremide reversed the effect of desipramine(P＜0.05).Conclusion The increase of intracellular ceremide may play an important role in the PMCs apoptosis induced by high glucose PDS.

ObjectiveTo investigate the effects of glioma microenvironment and COX-2 inhibitor celecoxib on the phenotypes and function of dendritic cell (DC).MethodsThe expression of cyclooxygenase-2 (COX-2) and prostaglandin E2 (PGE2) production were detected in glioma C6 cells treated with different concentration of celecoxib.Monocytes were isolated from human peripheral blood and cultured with 200 ng/ml rhGM-CSF and 50 ng/ml rhIL-4,either C6 tumor cells supernatant (TSN) or TSN from C6 cells treated with celecoxib to generate DCs.Cell morphology was observed.Cell phenotype including CD1a,CD80,CD83 and D86 were analyzed on a FACScan.Production of IL-12 in DC supernatant and the potential to stmiulate allogeneic T cell proliferation were detected.ResultsThe expression of COX-2 and PGE2 production in C6 cells decreased after treated with celecoxib in a concentration dependant manner.Typical DCs were induced in all groups and the expression of CD1a ((75.56±2.40)％,(75.09±3.67)％,(76.03 ±3.43)％),CD83((72.04±3.45)％,(71.44±3.78)％,( 73.63 ± 3.31 ) ％ ) had no difference (P ＞ 0.05 ).Expression of CD80 ( ( 58.41 ± 3.85 ) ％ ),CD86 ( ( 58.22 ±3.25)％ ) in DC with TSN obviously decreased compared with normal group( (70.36 ± 2.91 )％,(69.31 ±4.29 ) ％,P ＜ 0.01 ) as well as the IL-12 production ( ( 137.88 ± 5.33 ) pg/ml,( 186.04 ± 4.76 ) pg/ml) and the potential to stmiulate allogeneic T cell proliferation ( P ＜ 0.01 ).Celecoxib increased the expression of CD80,CD86 (66.83 ± 2.51,63.51 ± 5.47,P＜ 0.01 ) in DC and the same as IL-12 production( ( 170.31 ± 3.46) pg/ml,P ＜ 0.01 ) and the potential to stmiulate allogeneic T cell proliferation ( P ＜ 0.01 ),which were lower than the normal level.ConclusionGlioma microenvironment may induce the celecoxib can inhibit the expression of COX-2 and PGE2 in gliomas cells and improve the phenotypes and function defect of DCs.