Objective:To summarize the genotype and clinical phenotype of children with WWOX gene related developmental and epileptic encephalopathy (DEE).Methods:Case series studies. The clinical data of 12 children with WWOX gene related DEE who were admitted to the Neurological Department of Children′s Medical Center, Peking University First Hospital from June 2019 to December 2023 were analyzed. The children′s characteristics of gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among 12 children with WWOX gene related DEE, there were 7 boys and 5 girls, the age of seizure onset ranged from 10 days to 6 months (median 1.8 months). Multiple seizure types were observed, including focal seizures in 10 cases, epileptic spasms in 9 cases, tonic seizures in 4 cases, myoclonic seizures in 1 case. Among 12 cases, 9 cases had multiple seizure types. All 12 cases showed microcephaly and global developmental delay. Video electroencephalography showed slowed background activity in 6 cases, hyperarrhythmia in 6 cases, multifocal discharges in 6 cases, and focal discharges in 1 case. Epileptic spasms were detected in 8 cases, tonic seizures in 4 cases and myoclonic seizures in 1 case. Brain magnetic resonance imaging showed bilateral frontotemporal subarachnoid space widening in 5 cases, deep sulci in 3 cases, bilateral ventricular enlargement in 2 cases, callosal hypoplasia in 5 cases, and delayed white matter myelination in 3 cases. The phenotypes of 12 cases were consistent with the diagnosis of DEE, and 8 of them were diagnosed with infantile epileptic spasm syndrome. All the WWOX gene variants in 12 cases were complex heterozygous variants, including 20 variants, 11 variants and 1 large intragenic WWOX gene deletion (p.Ala149Thr, p.Arg156Ser, p.R167Tfs*8, p.Leu186Val, c.605+5G>A, p.Trp218*, p.His263Arg, p.Leu275fs*19*1, p.N285Kfs*10, p.Ser304Tyr, p.Met326Arg, loss1 exon2-8) had not been reported previously. The age of last follow-up ranged from 11 months to 5 years and 3 months. During the follow-up, 1 case died at the age of 1 year and 10 months, 2 cases were seizure-free, and 9 cases still had seizures after multiple anti-seizure medications.Conclusions:The seizure onset age of children with WWOX gene related DEE is usually less than 6 months, and some of them in neonate. The common seizure types include focal seizures and epileptic spasms. Children usually have microcephaly and global developmental delay. WWOX gene related DEE usually has drug refractory epilepsy.

Ovarian cysts are one of the most common gynecological diseases,and laparoscopic surgery has been considered as the main approach for treating benign ovarian tumors.Laparoendoscopic single site surgery(LESS)is favored by women due to its hidden scar in the umbilicus.Combining single-port laparoscopy with open surgery(OPEN)can enhance aesthetic outcomes,reduce surgical complexity,and preserve ovarian function better.The concept of LESS-OPEN pioneered by our team in China has shown significant efficacy in treating ovarian cysts.We also pioneered the construction of a feasibility prediction scoring system for laparoendoscopic single-site extracorporeal(LESS-E)ovarian cystectomy,and established an indication system for LESS-E surgery for ovarian cysts to guide surgeons in selecting surgical approaches.This paper aims to discuss the application of the LESS-OPEN technique in ovarian cystectomy and to explore its future prospects.

Objective:To analyze the clinical features, prognosis and risk factors of SARS-CoV-2 associated acute pancreatitis (SAAP), and provide a basis for early prevention and treatment of SAAP.Methods:Patients with coronavirus disease 19 infection (COVID-19) admitted to Zhejiang Provincial People's Hospital from December 1, 2022 to January 31, 2023 were retrospectively analyzed. Clinical characteristics such as age, gender and other data were recorded, and the indexes of blood routine, liver and kidney function, inflammatory factor, coagulation function, blood gas analysis, immunoglobulin and complement were collected after admission. Patients were divided into pancreatic injury group and non-pancreatic injury group according to the level of serum amylase/lipase. The difference of prognosis and related hematological parameters between the two groups was compared. Multifactorial logistic regression equation was constructed to analyze the risk factors of SAAP.Results:A total of 2 101 patients with COVID-19 who met the criteria were included, including 298 patients in the pancreatic injury group and 1 803 patients in the non-pancreatic injury group. 17 cases (5.7%) in the pancreatic injury group met the diagnostic criteria for AP. The age, male percentage and mortality rate of the pancreatic injury group were all significantly higher than those of the non-pancreatic injury group (all P<0.05). In the pancreatic injury group, white blood cell count, neutrophil-to-lymphocyte ratio, C-reactive protein (CRP), calcitoninogen, erythrocyte sedimentation rate, inflammatory cytokines, tumour necrosis factor, liver and kidney functions, coagulation (D-dimer and plasma fibrinogen degradation products), and lactate level were significantly higher than those in the non-pancreatic injury group (all P<0.05). Serum complement C3, albumin, albumin globule ratio and arterial oxygenation index were lower in the pancreatic injury group (all P<0.05). Multifactorial logistic regression analysis showed that gender, age, CRP, calcitoninogen, total bilirubin, creatinine, PaO 2, PaO 2/FiO 2 and lactate were independent risk factors for the occurrence of pancreatic injury in patients with COVID-19 (all P<0.05). Conclusions:Inflammation-related markers, D-dimer and fibrinogen degradation products were significantly higher in COVID-19 patients comorbid with pancreatic injury than in the patients without pancreatic injury. The risk of SAAP was significantly higher in male patients of senior age. Sex, age, CRP, calcitoninogen, total bilirubin, creatinine, oxygenation index, and lactic acid were independent risk factors for the onset of pancreatic injury in COVID-19 patients.

Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

Various species of Garcinia Linn.have been widely used as food and folk medicines,for their significant economic and pharmaceutical values.As the development of modern analysis technology,many phytochemistry methods were applied in the research of Garcinia Linn.,in which especially the liquid chromatography coupled with mass spectrometry (LC-MS),was increasingly used in chemical study for its rapid and accurate analysis.In this article,based on the published articles,the LC-MS methods used in the study of Garcinia Linn.,including the qualitative analysis,new compounds discovery and quantitative analysis were reviewed,and it would provide some information for the study of C arcinia Linn.in the future.

This study aimed at preparing the chemical reference substance of garcinol.A preparative high-speed countercurrent chromatography (HSCCC) was adopted for the isolation of garcinol from the twigs of Garcinia multifiora Champ,G.esculenta Y.H.Li and the fruits of G.xanthochymus Hook.f.ex T.Anders.The crude extracts were separated by HSCCC with two phase solvent systems composed of n-hexane-ethyl acetate-95％ ethanol-water (8∶8∶12∶4,volume ratio) using the upper stationary phase and the lower mobile phase.Under the conditions of a flow rate of 2.0 and 4.0 mL· min-1,and the apparatus rotation at 850 rpm,the column temperature at 25℃ and the detection wavelength at 254 nm,the fraction containing garcinol was purified by the Sephadex LH20 chromatography.The purity test in the extracts was determined by high-performance liquid chromatography.As a result,the contents of garcinol were 45,281 and 4080mg respectively separated from 104.765 g twigs of G.multiflora Champ,105.270 g G.esculenta Y.H.Li and 102.318 g the fruits of G.xanthochymus Hook.f.ex T.with the purity of 98.72％,98.36％ and 98.42％.Compared with the sample pretreatments and separation efficiency of the three plants,it was found that the fat-soluble extracts rapidly and efficiently extracted using n-hexane-ethyl acetate-95％ ethanol-water (5∶5∶5∶5,volume ratio) contained abundant garcinol taking fruits of G.xanthochymus Hook.f.ex T as the raw material with the combination of HSCCC and Sephadex LH-20 chromatography.In conclusion,it was indicated that the combination method is efficient with high operability and large preparation quantity.

Paridis Rhizoma is a rare Chinese herbal medicine with variety of medicinal values. In recent years, the demand for Paridis Rhizoma has increased gradually. Artificial cultivation has met difficulties, while exploitation of wild resources was caught in a vicious circle and has overdrawn seriously. So it is of great significance to enhance the protection of Paridis Rhizoma, carry out basic research, in order to solve problems in seeding breeding, promote artificial cultivation to meet the market need and achieve sustainable development and supply. This article reviewed the status qua of seedling breeding of Paridis Rhizoma, including seed breeding, tuber breeding and tissue culture, with a purpose to standardize planting of resource conservation and utilization of Paridis Rhizoma.

Garcinia plants are one of the rich sources of natural xanthones and benzophenones which have attracted a great deal of attention from the scientists in the fields of chemistry and pharmacology. Recently, many structurally unique constituents with various bioactivities, especially anti-tumor activity, have been isolated from Garcinia plants. This concise review focused on the anti-cancer activity natural products isolated from Chinese Garcinia plants, and the research finding by authors and collaborators over the past several years were cited.

Objective To establish an analytical method of chromatographic fingerprint of cortex moutan in Dianjiang County through HPLC;To provide reference for the quality control and general evaluation. Methods HPLC with Shim-pack VP-ODS C18 column (4.6 mm×250 mm, 5μm) was used;paeonol was taken as standard;the mobile phase was MeOH-H2O with liner gradient eluation;the delection mavelength was at 274 nm for paeonol and 230 nm for paeoniflorin;the flow rate was 1.0 mL/min. Fourteen batches of samples were analyzed to establish the fingerprint with paeonol and paeoniflorin as reference. Results The results of the 14 batches of samples and similarity evaluation showed that the similar degrees to the 10 batches among the 14 samples were between 0.968-0.998, which illustrated the good similar degrees among samples. Conclusion The established fingerprint with characteristics of stability, good reproducibility and simplicity, can be used for the quality evaluation and control of cortex moutan.

Objective To study the quality difference of various processing methods about Angelica dahurica. Methods Samples were selected from different places, clean silt by washing and brushing, cut slices and cut blocks in equal division, dried and comminution, to determine total ash, ethanol thermal extract, imperatorin content and HPLC fingerprint similarity. Results The content of total ash was the lowest in “washed”and “washed & cut slice” sample, dilute ethanol thermal extract was the highest in“cut blocks”and“washed&cut blocks”sample, imperatorin content was the highest in“non-washed”and“non-washed & cut slice” sample. Conclusion Washed and cut process is not suitable in place of origin about Angelica dahurica.