Objective:To investigate the clinical and electroencephalogram (EEG) characteristics of pattern-sensitive epilepsy (PSE).Methods:This retrospective case summary study enrolled 4 pediatric patients with PSE treated at the Peking University People′s Hospital from January 2015 to September 2023.The clinical data, EEG findings, treatments, and prognosis were retrospectively analyzed.Results:Among the 4 patients, 3 were female, and 2 had developmental delays before the onset of the disease.Spontaneous seizures occurred in 3 cases, including spasticity and tonic seizures in case 1, atypical absence seizures, myoclonic seizures, and general tonic-clonic seizures in case 3, and eyelid myoclonic seizures in case 4.All 4 cases exhibited pattern-induced reflex seizures, and pattern-induced seizures with photosensitivity were monitored by EEG in 3 cases.Of the 3 cases, 1 had myoclonic seizures, 1 had eyelid myoclonic seizures, and 1 had both myoclonic seizures and focal to bilateral tonic-clonic seizures.Two out of the 4 patients were diagnosed with epilepsy syndromes: Lennox-Gastaut syndrome and epilepsy with eyelid myoclonia.All 4 patients had interictal discharges, including 2 cases of generalized discharges, 1 case of multifocal discharges combined with generalized discharges, and 1 case of anterior head discharges.Three cases underwent the detection of whole exon gene and copy number variation, and 1 case showed a novel heterozygous mutation c. 73T>C(p.W25R) in the MBD5 gene on chromosome 2.Three patients were treated with antiseizure medication (ASM), while 1 did not receive ASM treatment because the seizures were all induced.However, none of the 4 had seizures under control after 5 to 10 years of follow-up. Conclusions:PSE is more common in female children and may co-occur with developmental delays and intellectual disabilities.In PSE children, the EEG shows mostly generalized discharges, spontaneous seizures, induced seizures, and predominantly generalized seizures coexist.Reflex seizures in PSE patients are more difficult to control with ASM treatment.

Aim To explore the effect of targeted inhi-bition of co-signaling molecule B7-H3 on the growth,migration,and angiogenesis ability of human umbilical vein endothelial cells(HUVECs).Methods Small interference RNA was used to knock down HUVECs B7-H3 molecules.CCK-8 test was used to detect cell proliferation at 24 h,48 h and 72 h.Transwell test was then used to detect 24 h cell migration,and three-dimensional cell culture was used to observe cell angio-genesis.Results Compared with the negative control group(siRNA-Control),siRNA-720,siRNA-1707 and siRNA-1690 had different inhibitory effects on the expression of B7-H3.B7-H3 inhibition of siRNA-1690 was significantly higher than that of siRNA-720 and siRNA-1707,and siRNA-1690 sequence was chosen for follow-up experiment.The results of CCK-8 cell vi-ability assay showed that the proliferation ability of HU-VECs decreased by 24％,22％(P＞0.05,compared with 24 h)and 15％(P＜0.05,compared with 48 h)respectively at 24 h,48 h and 72 h after B7-H3 knockout.The migration ability of B7-H3 for 24 h was significantly lower than that of siRNA-Control group(P＜0.01).The results of three-dimensional cell cul-ture showed that the angiogenic ability of HUVECs de-creased significantly after si-B7-H3 knockdown of B7-H3 gene(P＜0.01).Conclusion Targeting B7-H3 inhibits the growth,migration,and angiogenesis of hu-man umbilical vein endothelial cells.

Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.

AIM To establish a two reference substances for determination of multiple components(TRSDMC)method for the simultaneous content determination of neochlorogenic acid,chlorogenic acid,cryptochlorogenic acid,luteolin-7-O-glucuronide,isochlorogenic acid B,isochlorogenic acid A,isochlorogenic acid C,deoxyelephantopin,isodeoxyelephantopin,isoscabertopin and scabertopin in Elephantopus scabre L..METHODS The analysis was performed on a 35℃thermostatic Waters Symmetry C18,Phenomenex C18,Agilent ZORBAX Eclipse Plus C18 columns(4.6 mm×250 mm,5.0 μm),with the mobile phase comprising of acetonitrile and 0.1%phosphoric acid flowing at 1.0 mL/min in a gradient elution manner,and the detection wavelengths were set at 220,326 nm.Chlorogenic acid was used as an internal standard to calculate the relative correction factors of neochlorogenic acid,cryptochlorogenic acid,luteolin-7-O-glucuronide,isochlorogenic acid B,isochlorogenic acid A and isochlorogenic acid C,while isodeoxyelephantopin was used as an internal standard to calculate the relative correction factors of deoxyelephantopin,scabertopin and isoscabertopin,after which the content determination was made.Subsequently,cluster analysis,principal component analysis and orthogonal partial least squares-discriminant analysis were conducted.RESULTS Eleven constituents showed good linear relationships within their own ranges(r≥0.999 0),whose average recoveries were 95.3%-103.4%with the RSDs of 0.32%-3.45%.The result obtained by TRSDMC approximated those obtained by external standard method.Isochlorogenic acid A,isochlorogenic acid C,isochlorogenic acid B,chlorogenic acid,luteolin-7-O-glucuronide and cryptochlorogenic acid were taken as quality differential constituents.CONCLUSION This reliable and stable method can be used for the quality control of E.scabre.

OBJECTIVES: To compare the effect of different frequency of acupoint thread-embedding on weight loss in subjects with overweight/obesity of spleen deficiency and dampness retention. METHODS: A total of 126 subjects with overweight/obesity of spleen deficiency and dampness retention were randomized into a 2-week group(63 cases, 13 cases dropped out)and a 3-week group(63 cases, 11 cases dropped out, 1 case was eliminated). The two groups were treated with acupoint thread-embedding once every 2 weeks and once every 3 weeks respectively, Zhongwan(CV 12), Shuifen(CV 9), Qihai(CV 6), Guanyuan(CV 4) and bilateral Zhangmen(LR 13), Tianshu(ST 25), Liangmen(ST 21), Daheng(SP 15), Fujie(SP 14), Pishu(BL 20), Yinlingquan(SP 9)were selected. Four times were required in the two groups. Before and after treatment, follow-up after 2 months of treatment completion, the body mass index(BMI), body weight, waist circumference, hip circumference, waist-to-hip ratio, obesity degree, fat percentage(F%), skin fold thickness were observed in the two groups. RESULTS: After treatment and in follow-up, the BMI, body weight, waist circumference, hip circumference, waist-to-hip ratio, obesity degree, F%, skin fold thickness in the two groups were decreased compared with those before treatment (P<0.001, P<0.01), the changes of BMI, body weight, obesity degree, F%, skin fold thickness in the 2-week group were larger than those in the 3-week group(P<0.05, P<0.01, P<0.001). CONCLUSIONS The effect of acupoint thread-embedding once every 2 weeks on weight loss in subjects with overweight/obesity of spleen deficiency and dampness retention is superior to that once every 3 weeks.
Humans ; Acupuncture Points ; Overweight/therapy* ; Spleen ; Obesity/therapy* ; Body Weight ; Acupuncture Therapy ; Weight Loss

XueBiJing is an intravenous five-herb injection used to treat sepsis in China.The study aimed to develop a liquid chromatography-tandem mass spectrometry(LC-MS/MS)-or liquid chromatography-ultraviolet(LC-UV)-based assay for quality evaluation of XueBiJing.Assay development involved identifying marker constituents to make the assay therapeutically relevant and building a reliable one-point cali-brator for monitoring the various analytes in parallel.Nine marker constituents from the five herbs were selected based on XueBiJing's chemical composition,pharmacokinetics,and pharmacodynamics.A selectivity test(for"similarity of response")was developed to identify and minimize interference by non-target constituents.Then,an intercept test was developed to fulfill"linearity through zero"for each analyte(absolute ratio of intercept to C response,＜2％).Using the newly developed assays,we analyzed samples from 33 batches of XueBiJing,manufactured over three years,and found small batch-to-batch variability in contents of the marker constituents(4.1％-14.8％),except for senkyunolide I(26.5％).

Aim To investigate the role of aberrant cytokeratin 18(CK18) expression in breast cancer metastasis, anrl to elucidate the mechanism by identif¬ying its target.Methods The expression of CK.18 in human breast cancer tissues and cells was determined using immunohistochemical staining and Western blot, respectively.CK18 expression in human breast cancer MCF-7 cells was effectively down-regulated by shRNA, and its effect on breast cancer metastasis was further determined by scratch wound healing assay.The co-lo- cation of CK18 and non-muscle II A ( NMIIA) in MCF-7 cells was examined using double immunofluo¬rescence staining.The effect of CK18 down-regulation on the levels of NMIIA and c-Abl-ERK signaling was quantified by Western blot.Results Lower CK18 lev¬els was found in metastatic than that in primary breast cancer tissues and in highly invasive MDA-MB-231 than that in MCF-7 cells.CK.18 down-regulation pro¬moted the wound repair ability of MCF-7 cells 72h after scratch.CK18 and NMIIA were shown to co-locate in cytoplasm of MCF-7 cells.Moreover, down-regulation of CK18 increased NMIIA expression and activated the c-Abl-ERK signaling pathway in MCF-7 cells.Con¬clusions Down-regulation of CK18 could promote me¬tastasis of breast cancer, which is related to increased NMIIA expression and the activation of c-Abl-ERK sig¬naling pathway.

Aim To investigate the expression of Foxos in human umbilical vein endothelial cells(HUVECs)with insulin resistance(IR)induced by high glucose and high fat(HG/HF)stress and its significance.Methods First, the IR model of endothelial cells was established by HG /HF stress.The differential expression of Foxos gene in normal(Ctrl )group and HG /HF group was observed, and the subtypes with the most significant changes in Foxos were screened out, such as Foxo6.Next, Foxo6 was silenced to observe its role in endothelial cell with IR.Finally, whether the mechanism of Foxo6-mediated IR was related to the interaction of NF-κB signaling was investigated.Results The expression increase of Foxo6 was the most significant among Foxos under the IR condition induced by HG/HF.Using a small RNA interference and plasmid transfection technique, we found that the silence effect of the siRNA3 fragments targeting Foxo6 was the most significant among the siRNAs.Moreover, the further study showed that silencing the Foxo6 gene could significantly reverse the endothelial IR induced by HG/HF, and the mechanism of the reversal effect was related to the interaction between the Foxo6 and NF-κB signal.Conclusions Foxo6 mediates the endothelial cell IR induced by the HG /HF stress.The underlying mechanism is that Foxo6 can interact with NF-κBp65 and activate NF-κB signaling pathway.Silencing Foxo6 can improve the IR of vascular endothelial cells induced by HG /HF stress.

Alzheimer's disease is an age-related neurodegenerative disease, and its pathogenesis has not been fully elucidated.In recent years the role of metal ions in the development and de-velopment of Alzheimer's disease has been brought into foeus.This paper reviews the homeostasis imbalance of metal ions, in- eluding the essential metal ions for human body such as Fe~ + / Fe3+ , CuV Cu2 + , Zn2 + , Mg2 + , as well as non-essential metal ions such as Al '+ and Hg"+ , involved in the pathogenesis of AI), aiming to provide research clues for anti-AD dnig targeting metal ions.

Breast cancer is a malignant tumor with high mortality, and multidrug resistance (MDR) mediated by ABCG2 (ATP-Binding cassette G2) is an important cause of chemotherapy failure. It is an urgent problem to explore the mechanism of ABCG2-mediated drug resistance and its key molecules. Epithelial cell adhesion molecule (EpCAM) is involved in multiple tumor drug resistance and is closely related to breast cancer MDR. However, its role in ABCG2-mediated breast cancer drug resistance has not been clarified. The purpose of this study was to explore the regulation of EpCAM on ABCG2-mediated MDR in breast cancer cells and its mechanism. CCK8 cytotoxicity assays confirmed that the drug resistance of MCF-7/MX cell line to mitoxantrone (MX) was significantly increased compared with MCF-7 drug-sensitive strain of human breast cancer. Western blotting results showed that ABCG2 was highly expressed and EpCAM was up-regulated in MCF-7/MX cells compared with MCF-7. SiRNA knockdown of EpCAM in MCF-7/MX cells down-regulated ABCG2 expression and restored sensitivity to MX. Cell morphology was observed under an inverted microscope, and it was found that knocking down EpCAM reduced cell-cell connections between MCF-7/MX cells. The co-localization of EpCAM and claudin 1 in MCF-7/MX cells was observed by immunofluorescence. Furthermore, Western blotting results showed that EpCAM knockdown reduced claudin 1 expression in MCF-7/MX cells. In conclusion, EpCAM may promote ABCG2-mediated mMDR in breast cancers by enhancing intercellular tight junctions through interaction with claudin 1.