The clinical phenotype heterogeneity of epilepsy patients with ADGRV1 gene mutation is significant, ranging from self limiting febrile seizures to developmental epileptic encephalopathy, even causing sudden epileptic death. A case of infantile epileptic spasms syndrome with a novel heterozygous variant of the ADGRV1 gene c.4100C>A (p.Thr1367Lys) was reported in this article. The site of this variant had not been reported yet, and the clinical manifestations of the child mainly included epileptic spasms (first onset at 4 months old), mild growth and development delay, highly irregular video electroencephalogram, and effective treatment with adrenocorticotropic hormone.

Objective To evaluate the therapeutic efficacy for surgical treatments among patients with hepatic cystic echinococcosis in Gansu Province from 2006 to 2023, so as to provide insights into optimization of the diagnosis and treatment strategies against hepatic cystic echinococcosis. Methods The demographic and clinical data of all echinococcosis cases included in central government fiscal transfer payment program for echinococcosis control and undergoing surgical treatments in Gansu Province from 2006 to 2023 were captured. Hepatic cystic echinococcosis patients with complete medical records and follow-up data were included in the study, and patients’ characteristics, including hospital where patients received diagnosis and treatment, methods of case identification, year of surgery, classification of lesions, number of lesions, size of lesions, course of disease, surgical methods, and post-surgical follow-up data. The cure and recurrence of hepatic cystic echinococcosis were evaluated according to the Guidelines for Management of Echinococcosis Patients in the Central Government Fiscal Transfer Payment Program, and the cure and recurrent rates were calculated. Results Data were collected from 1 686 surgical patients with hepatic cystic echinococcosis. According to the inclusion and exclusion criteria, 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments were included during the period from 2006 to 2022, including 1 166 cured patients (95.42%) and 88 patients with postsurgical recurrence (7.20%), and the cure rate of surgical treatments appeared a tendency towards a rise among patients with hepatic cystic echinococcosis from 2008 to 2022 (χ²_trend = 19.39, P < 0.05). The cure rates of hepatic cystic echinococcosis were 100% (177/177), 94.81% (128/135) and 94.62% (861/910) among patients detected through regular physical examinations, screened by the central government fiscal transfer payment program for echinococcosis control, and those who passively sought healthcare services, respectively (χ² = 9.95, P < 0.05). The cure rates of hepatic cystic echinococcosis were 95.96% (1 046/1 090) among patients with a disease course of 2 years and less and 90.90% (120/132) among patients with a disease course of over 2 years (χ² = 6.87, P < 0.05), and there were significant differences in the cure rates among patients with hepatic cystic echinococcosis in terms of number of lesions (χ² = 24.44, P < 0.05) and surgical methods (P < 0.05). The cure rate of hepatic cystic echinococcosis patients was significantly higher following initiation of the central government fiscal transfer payment program for echinococcosis control (96.06%, 1 096/1 141) than before the program (86.42%, 70/81) (χ² = 16.06, P < 0.05), and the cure rate of hepatic cystic echinococcosis patients was significantly higher in designated hospitals (96.48%, 741/768) than in non-designated hospitals (93.37%, 366/392) (χ² = 5.78, P < 0.05). The median follow-up period was 4 (interquartile range, 7) years among 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments. The recurrent rate of hepatic cystic echinococcosis appeared a tendency towards a decline from 2008 to 2022 (χ²_trend = 36.86, P < 0.05), with a reduction from 23.08% (9/39) in 2008 to 1.85% (1/54) in 2021, and the post-surgical recurrence rate of hepatic cystic echinococcosis was lower following initiation of the central government fiscal transfer payment program for echinococcosis control (5.87%, 67 / 1 141) than before the program (25.93%, 21/81) (χ² = 45.51, P < 0.05). In addition, the post-surgical recurrence rate of hepatic cystic echinococcosis was higher in non-designated hospitals (10.46%, 41/392) than in designated hospitals (5.60%, 43/768) (χ² = 9.12, P < 0.05), and there was a significant difference in the post-surgical recurrence rate among patients with hepatic cystic echinococcosis in terms of surgical methods (P < 0.05), with the highest recurrence rate (11.54%) seen among patients undergoing percutaneous fine-needle aspiration of cyst fluids-based surgical procedures (P < 0.05). Conclusion Since the initiation of the central government fiscal transfer payment program for echinococcosis control in Gansu Province in 2006, an increase in the surgical cure rate and a reduction in the recurrence of hepatic cystic echinococcosis had been found among patients with hepatic cystic echinococcosis, indicating a high overall therapeutic efficacy.

Objective:This study aims to investigate the differences in emotional status and cognitive function among patients with vestibular migraine (VM), Meniere′s disease (MD), and their comorbidity (VMMD), and to analyze key factors influencing cognitive function.Methods:This cross-sectional study included 96 outpatients (32 males, 64 females, aged 21-73 years) from the Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, between December 2022 and December 2023. The study population consisted of 31 VM patients (VM group), 36 MD patients (MD group), and 29 VMMD patients (VMMD group), along with 32 healthy controls (16 males, 16 females, aged 19-74 years). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA), while emotional status and somatization symptoms were evaluated through the Generalized Anxiety Disorder scale, Patient Health Questionnaire Depression scale, Symptom Checklist-90, and the Self-rating Somatization Symptom scale. Multiple linear regression analysis was conducted to explore the influence of different variables on cognitive function.Results:The total MoCA score in the VMMD group (26.0 [24.5, 28.0]) was significantly lower than that in the control group (28.0 [27.0, 29.0]) and the MD group (28.0 [26.0, 30.0]) ( P=0.006). VMMD patients exhibited significant impairments in specific cognitive domains, including visuospatial/executive function, delayed recall, and orientation ( P<0.05). Patients with VM, MD, and VMMD showed higher rates of anxiety, depression, and somatization symptoms compared to the control group ( P<0.05), with the VMMD group experiencing the most severe emotional distress. Multiple linear regression analysis identified education level and vestibular disease type as key factors affecting cognitive function, with a university-level education predicting higher MoCA scores ( P<0.001), while VMMD was associated with cognitive decline ( P<0.01). Conclusions:Patients with VM and MD, particularly those with comorbid VMMD, exhibit significant emotional distress. Cognitive impairments are present in VM and VMMD patients, affecting different cognitive domains. These factors should be comprehensively considered in clinical assessments to develop more effective treatment strategies.

Objective:To discuss the differences in depression symptoms between genders and between only-children and non-only-children among adolescents through symptom network analysis of adolescent depression.Methods:A total of 650 adolescents were randomly selected from Chaoyang District,Changchun City,Jilin Province,and they were as the study samples.The Patient Health Questionnaire-9(PHQ-9)was used to assess depression symptoms in the adolescents;network analysis was performed on the survey results to identify the core symptoms of adolescent depression and to compare gender differences and differences between only-children and non-only-children in depression symptoms.Results:The core symptoms of the adolescent depression were depressed mood[Closeness(Clo)=1.700 5,Strength(Str)=1.722 8]and lack of energy[Betweenness(Bet)=1.875 1].No significant differences in core symptoms were observed between males and females,but significant differences were found between only-children and non-only-children.Depression manifestations in the only-children also included psychomotor agitation or retardation.In the depression symptom network of the adolescents,the strongest edge connection was between anhedonia and depressed mood[Edge strength(Edge strength)=0.322 5],and significant differences were observed between genders and between only-children and non-only-children.The symptom network in male adolescents was consistent with the overall pattern,whereas in female adolescents,the strongest connection was the biggest between psychomotor agitation or retardation and suicidal ideation or self-harm(Edge strength=0.320 5).The symptom network in only-children was consistent with the overall pattern,whereas in non-only-children,the strongest connection was between depressed mood and feelings of worthlessness(Edge strength=0.287 4).Conclusion:The core symptoms of the adolescent depression exhibit differences between only-children and non-only-children,and the edge strengths in the symptom network show variations by gender and between only-children and non-only-children.

Objective:This study aims to investigate the differences in emotional status and cognitive function among patients with vestibular migraine (VM), Meniere′s disease (MD), and their comorbidity (VMMD), and to analyze key factors influencing cognitive function.Methods:This cross-sectional study included 96 outpatients (32 males, 64 females, aged 21-73 years) from the Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, between December 2022 and December 2023. The study population consisted of 31 VM patients (VM group), 36 MD patients (MD group), and 29 VMMD patients (VMMD group), along with 32 healthy controls (16 males, 16 females, aged 19-74 years). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA), while emotional status and somatization symptoms were evaluated through the Generalized Anxiety Disorder scale, Patient Health Questionnaire Depression scale, Symptom Checklist-90, and the Self-rating Somatization Symptom scale. Multiple linear regression analysis was conducted to explore the influence of different variables on cognitive function.Results:The total MoCA score in the VMMD group (26.0 [24.5, 28.0]) was significantly lower than that in the control group (28.0 [27.0, 29.0]) and the MD group (28.0 [26.0, 30.0]) ( P=0.006). VMMD patients exhibited significant impairments in specific cognitive domains, including visuospatial/executive function, delayed recall, and orientation ( P<0.05). Patients with VM, MD, and VMMD showed higher rates of anxiety, depression, and somatization symptoms compared to the control group ( P<0.05), with the VMMD group experiencing the most severe emotional distress. Multiple linear regression analysis identified education level and vestibular disease type as key factors affecting cognitive function, with a university-level education predicting higher MoCA scores ( P<0.001), while VMMD was associated with cognitive decline ( P<0.01). Conclusions:Patients with VM and MD, particularly those with comorbid VMMD, exhibit significant emotional distress. Cognitive impairments are present in VM and VMMD patients, affecting different cognitive domains. These factors should be comprehensively considered in clinical assessments to develop more effective treatment strategies.

The clinical phenotype heterogeneity of epilepsy patients with ADGRV1 gene mutation is significant, ranging from self limiting febrile seizures to developmental epileptic encephalopathy, even causing sudden epileptic death. A case of infantile epileptic spasms syndrome with a novel heterozygous variant of the ADGRV1 gene c.4100C>A (p.Thr1367Lys) was reported in this article. The site of this variant had not been reported yet, and the clinical manifestations of the child mainly included epileptic spasms (first onset at 4 months old), mild growth and development delay, highly irregular video electroencephalogram, and effective treatment with adrenocorticotropic hormone.

Compared with the widely used rodents,pigs are anatomically,physiologically,and genetically more similar to humans,making them high-quality models for the study of liver diseases.Here,we review the latest research progress on pigs as a model of human liver disease,including methods for establishing them and their advantages in studying cystic fibrosis liver disease,acute liver failure,liver regeneration,non-alcoholic fatty liver disease,liver tumors,and xenotransplantation.We also emphasize the impor-tance of genetic engineering techniques,mainly the CRISPR/Cas9 system,which has greatly enhanced the utility of porcine models as a tool for substantially advancing liver disease research.Genetic engineering is expected to propel the pig as one of the irreplaceable animal models for future biomedical research.

Objective:To explore the clinical and genetic characteristics of five children with epilepsies due to variants of SCN8A gene. Methods:Clinical data of five children (four males and one female) admitted to Linyi People′s Hospital due to hereditary epilepsies between August 2015 and August 2022 were collected. Whole exome sequencing was carried out for these children, and candidate variants were verified by Sanger sequencing.Results:All of the five children were found to harbor variants of the SCN8A gene. Case 1, who had benign familial infantile epilepsy, inherited a known pathogenic c. 4840A>G variant from his father with similar symptoms. Cases 2 to 4 had presented with intermediate epilepsy. Among these, case 2 has harbored a de novo c. 3967G>A variant which was rated as pathogenic (PS1+ PS2+ PM1+ PM2_Supporting+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics. Cases 3 and 4 were found to respectively harbor a de novo c. 415A>T and a c. 4697C>T variant, which were both rated as likely pathogenic (PS2+ PM1+ PM2_Supporting+ PP3). Case 5, who had early-onset infantile epileptic encephalopathy transformed into Lennox Gastaut-like syndrome, has harbored a de novo c. 5615G>A variant, which was known to be pathogenic. The children had their age of onset ranging from 2 to 14 months, and all had focal seizures and generalized tonic clonic seizures. Four children (cases 1, 2, 3 and 5) had cluster seizures, four (cases 1 to 4) had become seizure-free after single or dual treatment and showed normal growth and development, whilst case 5 was drug-resistant and showed severe developmental retardation. Conclusion:The five children had new features such as cluster seizures, occasional benign seizures in adulthood, and intermediate epilepsy which are prone to relapse after discontinuation of medication, which may be attributed to the pathogenic variants of the SCN8A gene.

Objective:To investigate the clinical phenotype and genetic characteristics of infantile epileptic spasm syndrome caused by BRWD3 gene mutation. Methods:Clinical data of a child with BRWD3 related infantile epileptic spasm syndrome who was admitted to Department of Pediatric Neurology of Linyi People′s Hospital on August 2, 2019 were collected and followed up, whole exome sequencing technology and Sanger sequencing were applied to verify the child and his parents, and the pathogenicity of mutation site was analyzed. The studies till June 2023 were searched with keywords of " BRWD3" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical phenotype and genetic characteristics of patients with BRWD3 related epilepsy were summarized. Results:The patient was a 4 years and 4 months old boy, with a clinical phenotype including severe global development delay, focal seizures (the onset age was 4 months), epileptic spasm (the onset age was 6 months), autism, megacephaly, high forehead as well as hypsarrhythmia. The whole exome sequencing results showed a de novo and frameshift variation c.4318_4319del(p.Q1441Efs*20)(NM_153252) in the BRWD3 gene, and the variation was interpreted as pathogenic (PVS1+PS2+PM2) according to the American College of Medical Genetics and Genomics variant classification criteria and guidelines. A total of 7 English literature articles were retrieved reporting 16 cases of BRWD3 gene related epilepsy in children (including 1 case of infantile epileptic spasm syndrome), and there has been no report in China yet. Totally there were 17 cases of BRWD3 gene related epilepsy including this case. All the cases showed X chromosome dominant inheritance, of whom 15 cases showed minor variations, including 7 missense variations, 3 frameshift variations, 3 splicing variations, 2 nonsense variations, and the remaining 2 cases showed large segment deletions. A total of 15 different variants were found. The phenotypes of the 17 patients mainly included epileptic seizures (17/17), intellectual disability (10/17), motor development disorder (7/17), speech impairment (9/17), megacephaly (8/17), facial malformation (8/17), autism (4/17) and hypotonia (4/17). The common seizure types were found to be focal seizures, occasionally epileptic spasm seizures and tonic seizures. Conclusions:BRWD3 gene variation related epilepsy is an X chromosome dominant genetic disease with a wide clinical phenotype spectrum. BRWD3 gene mutation c.4318_4319del(p.Q1441Efs *20) could cause infantile epileptic spasm syndrome, manifested as severe global developmental delay, epileptic spasm, focal seizures, autism, craniofacial malformation and hypsarrhythmia. This research enriches BRWD3 gene mutation spectrum.

Objective:To discuss the effect of the force feedback perceptual rehabilitation training on finger motor function of the patients with finger motor dysfunction after stroke,and to provide the basis for the clinical application and promotion of the force feedback perceptual rehabilitation training.Methods:A total of 86 patients with hand dysfunction after stroke were randomly divided into experimental group(n=43)and control group(n=43),and 3 cases in each group fell off from the experiment,and 80 cases were ultimately completed.On this basis,the patients in two groups received the conventional rehabilitation training for 40 min.The patients in control group received the conventional hand function training for 20 min,while the patients in experimental group received the force feedback perception rehabilitation training for 20 min,once per day,5 days per week,for a total of 6 weeks.The hand function recovery of the patients were evaluated before and after treatment by Action Research Arm Test(ARAT),grip strength,modified Ashworth scale(MAS),total active motion(TAM),Fugl-Meyer motor function assessment-upper limb(FMA-UL)finger motor part score,and Barthel index(BI).Results:Before treatment,there were no statistically significant differences in ARAT total score,grip strength,MAS grade,TAM,FMA-UL finger motor part score,and BI score of the patients between two groups(P＞0.05).After treated for 6 weeks,the ARAT scores,grip strengths,TAM,FMA-UL finger motor part scores,and BI scores of the patients in two groups were all increased than those before treatment(P＜0.05),while the MAS grades of the patients had no significant differences(P＞0.05).After treated for 6 weeks,compared with control group,the grasp score and grip score in ARAT score,and the difference of total ARAT score of the patients in experimental group were increased(P＜0.05),the TAM after treatment and the differences of grip strength,TAM,and FMA-UL finger motor part score of the patients before and after treatment were increased(P＜0.05),while the pinch scores and gross movement scores in ARAT score,MAS grades,and the differences of BI score before and after treatment had no significant differences(P＞0.05).Conclusion:Force feedback perceptual rehabilitation training is helpful in improving the finger motor function of the patients with finger motor dysfunction after stroke.