Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

Objective To investigate the perioperative outcomes and postoperative pregnancy outcomes of patients with intrauterine adhesions(IUA)treated by see-and-treat hysteroscopy and traditional hysteroscopy in transcervical resection of adhesions(TCRA).Methods A retrospective cohort study was performed on 485 patients with moderate-to-severe IUA who met the inclusion criteria and admitted in our hospital from January 2019 to December 2021.According to surgical approaches,the patients were assigned into a see-and-treat mode group and a traditional mode group.After clinical diagnosis(ultrasound and symptoms)of IUA,the patients from the former group received direct hysteroscopic adhesion separation surgery,and those of the latter group were diagnosed by outpatient hysteroscopy first and then hysteroscopic adhesion separation surgery.The perioperative indicators,postoperative three-dimensional transvaginal ultrasound(3D-TVUS)examination related characteristics,postoperative menstrual recovery,postoperative pregnancy outcomes,obstetric related complications,and neonatal outcomes were collected and compared between the 2 groups.Results Among the enrolled 485 patients,there were 277 in the see-and-treat group and 208 in the traditional group.The success rate of surgical treatment was 89.89%in the see-and-treat group and 92.79%in the traditional group,but no statistical difference was seen between them(Chi-square=1.234,P=0.267).3D-TVUS examination displayed that the see-and-treat mode group obtained better improvement of endometrial morphology,uterine morphology and menstruation after operation than the traditional group(P<0.001).The postoperative pregnancy rate was slightly higher in the see-and-treat group than the traditional mode group(58.84%vs 58.17%,P=0.882).However,the see-and-treat mode showed obvious advantage in the postoperative natural pregnancy rate,with a rate of 90.80%,obviously higher than that in the traditional mode group(81.82%,P=0.026).The live birth rate was 70.55%in the see-and-treat mode group,excluding 1 case with ongoing pregnancy in the second trimester and 1 case with ongoing pregnancy in the third trimester,and the rate was 74.38%in the traditional group,excluding 3 cases with ongoing pregnancy in the third trimester,but there was no statistical difference between the 2 groups(P=0.303).In terms of obstetric-related complications,there were 0 cases of blood transfusion during delivery hospitalization in the see-and-treat group,while there were 7 cases in the traditional group(P=0.003).In neonatal outcomes,the rate of transfer to the pediatric department was 10.43%in the see-and-treat mode group and 22.22%in the traditional mode group(P=0.021).For health economics,the see-and-treat hysteroscopy group demonstrated a significant advantage over the traditional hysteroscopy group(P<0.001).There was no significant difference in pain scores between the 2 groups.Conclusion The see-and-treat approach is a safe,feasible,and highly efficient strategy for integrating the diagnosis and treatment of IUA,enabling maximal minimization of surgical trauma while optimizing time and cost efficiency.

Deep medullary veins(DMVs)are critical components of the cerebral medullary venous system,responsible for venous drainage of the deep cerebral white matter.Recent research indicates that DMVs are closely related to cerebral small vessel disease(CSVD)and associated cognitive disorders.The morphological structure of DMVs can be clearly visualized on susceptibility weighted imaging and quantitative susceptibility mapping,which could potentially serve as markers for assessing the severity of CSVD.This article reviewed the anatomical characteristics and physiological functions of DMVs,as well as the mechanistic correlations between DMVs and various CSVD imaging markers,aiming to provide novel theoretical insights for early diagnosis and clinical management of CSVD.

Deep medullary veins(DMVs)are critical components of the cerebral medullary venous system,responsible for venous drainage of the deep cerebral white matter.Recent research indicates that DMVs are closely related to cerebral small vessel disease(CSVD)and associated cognitive disorders.The morphological structure of DMVs can be clearly visualized on susceptibility weighted imaging and quantitative susceptibility mapping,which could potentially serve as markers for assessing the severity of CSVD.This article reviewed the anatomical characteristics and physiological functions of DMVs,as well as the mechanistic correlations between DMVs and various CSVD imaging markers,aiming to provide novel theoretical insights for early diagnosis and clinical management of CSVD.

Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

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 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 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.