Objective To investigate the prognostic value of serum thrombospondin-1(THBS-1)combined with Alberta Stroke Program Early CT Score(ASPECTS)in patients with acute cerebral infarction with large vessel occlusion(ACI-LVO).Methods A total of 198 ACI-LVO patients admitted to the hospital from January 2022 to October 2024 were prospectively enrolled(ACI-LVO group).Patients were categorized into mild,moderate,and severe subgroups based on National Institutes of Health Stroke Scale(NIHSS)scores,and into good or poor prognosis groups based on 90-day outcomes.Serum THBS-1 levels were measured using ELISA,and ASPECTS scores were calculated.Spearman correlation analysis was used to assess the relationship between THBS-1,ASPECTS,and NIHSS scores.Prognostic factors and predictive values of THBS-1 and ASPECTS were also analyzed.Results Among the 198 patients,58 had mild,67 had moderate,and 73 had severe ACI-LVO.Serum THBS-1 levels increased,and ASPECTS scores decreased progressively with worsening disease severity(P<0.05).NIHSS scores were positively correlated with serum THBS-1 and negatively correlated with ASPECTS scores(P<0.05).The 90-day poor outcome rate was 37.37％(74/198).Independent risk factors for poor prognosis included older age,modified thrombolysis in cerebral infarction score of 0～2a,higher NIHSS score,larger infarct volume,hemorrhagic transformation,and elevated THBS-1.A higher ASPECTS score was an independent protective factor(P<0.05).The area under the curve(AUC)for predicting prognosis was 0.794 for THBS-1,0.831 for ASPECTS,and 0.903 for their combination,with the combined model showing superior predictive value(P<0.05).Conclusions Elevated serum THBS-1 and decreased ASPECTS scores are associated with increased disease severity and poorer prognosis in ACI-LVO patients.The combination of serum THBS-1 and ASPECTS score provides high predictive value for assessing prognosis in ACI-LVO patients.

Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.

Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:This study aims to explore whether there are specific behavioral deficits of response inhibition and emotional processing in patients with checking obsessive-compulsive disorder (OCD) and those with washing OCD.Methods:A cross-sectional study was conducted from January 2020 to December 2022, collecting clinical data from 75 OCD patients at the outpatient psychological consultation clinic of Xiangya Second Hospital and the clinical psychology department of Hunan Brain Hospital. The sample included 40 OCD patients with checking type (checking group, 24 males, 16 females, aged 14-34 years, mean age 22.1±5.0 years) and 35 OCD patients with washing type (washing group, 12 males, 23 females, aged 14-41 years, mean age 22.6±6.7 years). An age-matched healthy control group (control group) of 80 individuals (HCs, 37 males and 43 females, aged 14-25 years, mean age 20.8±1.9 years) was also recruited. All participants completed the Go/No-go task and Hariri task with behavioral data recorded. The Dimensional Yale-Brown Obsessive-Compulsive Scale was used to assess the severity of OCD symptoms. The Center for Epidemiologic Studies Depression Scale (CES-D) and State Anxiety Inventory (STAI) were used to assess the severity of depression and anxiety. A 3 (group: checking OCD, washing OCD and HC)×2 (task type: Go vs. No-go/Shape vs. Face) repeated-measures ANOVA was conducted to compare the behavioral performance across tasks.Results:Compared with HC group, both checking OCD group and washing OCD group had significantly higher scores in depression and anxiety ( F=85.43, 32.33,both P<0.05). When performing Go/No-go task, a significant group×task interaction effect was observed ( F3(2, 152)=3.23, P3=0.042, partialη32=0.04). In the checking OCD group, No-go accuracy was significantly lower than Go accuracy (accuracy=0.821 vs. 0.893, P<0.001); the checking OCD had significantly lower accuracy than HC in the No-go task (accuracy=0.821 vs. 0.876, P=0.005); there were no significant group differences between the washing OCD and HC in the No-go task ( P>0.05). When performing Hariri task, a significant group×task interaction effect was found ( F3(2, 152)=4.91, P3=0.009, partial η32=0.06). The washing OCD group showed significantly lower accuracy in matching emotional faces than the control group (0.879 vs. 0.936, P=0.001), whereas the checking OCD group showed no significant difference from the HC ( P>0.05); there were no significant group differences in shape matching task ( P>0.05). The accuracy of shape matching task was significantly higher than face matching task in the three groups (shape: checking OCD=0.936,washing OCD=0.929,HC=0.943; face:checking OCD=0.877,washing OCD=0.844,HC=0.917;all P>0.05). Conclusions:Checking OCD and washing OCD exhibit distinct behavioral impairment patterns in response inhibition and emotional processing. Checking-type OCD is primarily characterized by impaired response inhibition, whereas washing-type OCD is mainly associated with deficits in emotion processing.

Objective To explore the effects of CDP-diacylglycerol synthase 1(CDS1)on autophagy and amyloid deposition in hippocampal neurons of mice and the related mechanism.Methods Congo red and immunohistochemical staining were used to observe the amyloid deposition in hippocampus of amyloid precursor protein(APP)/presenilin 1(PS1)double-transgenic mice.Lentivirus-mediated overexpression of APP was induced in HT22 cells,and Congo red staining was used to observe the amyloid deposition in HT22 cells.The protein expression levels of microtubule-associated protein 1 light chain 3(LC3)-Ⅱ and P62 in the hippocampus of APP/PS1 double-transgenic mice and APP-overexpressed HT22 cells were detected by Western blotting.The differential protein CDS1 was screened based on the hippocampal proteomics results of APP/PS1 double-transgenic mice.The expression of CDS1 protein in hippocampal tissue of APP/PS1 transgenic mice and APP-overexpressed HT22 cells was detected by Western blotting.After lentivirus-mediated APP overexpression in HT22 cells,CDS1 was overexpressed,and the protein expression levels of LC3-Ⅱ and P62 were detected by Western blotting.Results β-amyloid protein(Aβ)was deposited in the hippocampus of APP/PS1 mice and in HT22 cells overexpressing APP.The levels of LC3-Ⅱ and P62 protein in the hippocampus of APP/PS1 double-transgenic mice and APP-overexpressed HT22 cells were significantly increased.A differential metabolic pathway,glycerophospholipid metabolic pathway,was screened by Kyoto Encyclopedia of Genes and Genomes pathway analysis in the proteomic results of APP/PS1 double-transgenic mice,and the differential protein CDS1 was obtained.Compared with wild-type C57BL/6 mice,APP/PS1 double-transgenic mice exhibited a significantly decrease in CDS1 protein expression in the hippocampus(0.46±0.07 vs 1.00±0.25,P＜0.01).Similarly,lentivirus-mediated overexpression of APP in HT22 cells resulted in decreased CDS1 protein levels compared to cells infected with empty viral vector controls(0.68±0.18 vs 1.00±0.13,P＜0.01).The autophagy flow of nerve cells was significantly restored after the CDS1 overexpression in APP-overexpressed HT22 cells(LC3-Ⅱ:1.00±0.15 vs 0.21±0.05,P＜0.01;P62:1.00±0.16 vs 0.67±0.10,P＜0.01),and Aβ deposition was significantly decreased.Conclusion Downregulation of CDS1 expression can induce dysfusion of autophagosome and lysosome,promoting amyloid deposition in hippocampus of mice with Alzheimer's disease.

Alzheimer's disease(AD)is a progressive neurodegenerative disease with hidden onset.Recent researches have shown that apolipoprotein E4(APOE4)is a high-risk genetic factor of AD,and the clinical symptoms in APOE4 genotype AD patients are closely related to metabolic disorders.This paper reviewed the role of APOE4 in the pathogenesis of AD,and it is indicated that APOE4 contributes to the injury of the cerebral blood-brain barrier,is associated with the disorder of cerebral glucose and lipid metabolism,and leads to the damage of the scavenging ability of microglia.Moreover,this paper explored the approach of early intervention of AD with traditional Chinese medicine(TCM)based on the APOE4 pathogenesis.Based on the pathogenesis of AD being deficiency in origin and excess in superficiality,and under the guidance of the principle of prevention before illness in TCM,it is proposed that early TCM intervention for APOE4 genotype AD patients with metabolic disorders can be performed through improving the phlegm-dampness constitution,by focusing on insulin resistance-related indicators,and with traditional Chinese drug therapy based on syndrome differentiation alone or together with comprehensive management of exercises,diet control and drug interventions,thus to reduce or delay the onset of APOE4 genotype AD.

Objective:To investigate the prevalence of sarcopenia and potential influencing factors in middle-aged and elderly populations in Zhejiang Province.Methods:Data were obtained from Zhejiang Provincial Household Economic Status Survey, a cross-sectional survey was condcuted in middle-aged and olde adults selected through multi-stage sampling in three cities in Zhejiang (Huzhou, Jiaxing and Shaoxing) in July 2023. A total of 3 019 study participants, average age 62.3 years old, 53.5% men, were included according to the inclusion and exclusion criteria. Sarcopenia screening was conducted by using the questionnaire with five sarcopenia related-items. Univariable and multivariable logistic regression analysis was used to identify the factors associated with sarcopenia.Results:The prevalence of sarcopenia in the middle-aged and old study participants was 4.47%. Significant differences were observed between the participants with or without sarcopenia in terms of age, educational level, BMI, alcohol consumption status, diet habit, physical activity level, sleep quality, number of chronic diseases, childhood socioeconomic status, adulthood community socioeconomic status, muscle strength, walking assistance, ability to stand from seat, ability to climb stairs, and fall frequency ( P<0.05). Multivariable logistic regression analysis revealed that old age (≥75 years: OR=2.82, 95% CI: 1.60-4.97), low body weight ( OR=1.96, 95% CI: 1.06-3.62), unhealthy diet habit ( OR=1.57, 95% CI: 1.01-2.46), physical inactivity ( OR=5.80, 95% CI: 3.09-10.88), poor or very poor sleep quality ( OR=1.65, 95% CI:1.23-2.41), number of chronic diseases (1 chronic disease: OR=1.84, 95% CI: 1.08-3.14; 2 chronic diseases: OR=3.22, 95% CI: 1.81-5.71; 3 or more chronic diseases: OR=3.74, 95% CI: 2.11-6.65), poor childhood socioeconomic status ( OR=2.98, 95% CI: 1.23-7.20), and poor adulthood community socioeconomic status ( OR=3.87, 95% CI: 1.63-9.17) were significant risk factors for sarcopenia. Conclusions:The prevalence of sarcopenia was relatively low in middle-aged and old population in Zhejiang. Age, BMI, unhealthy diet, physical activity level, sleep quality, number of chronic diseases, childhood socioeconomic status, and adulthood community socioeconomic status were identified as significant influencing factors.

Tacrolimus is an immunosuppressant that was clinically used for organ transplantation in the 1990s. In the early 2000s, tacrolimus began to be used to treat pediatric kidney diseases in China. This article reviews the therapeutic effects, clinical dosages, and treatment methods of tacrolimus in the treatment of steroid-resistant, steroid-dependent, frequently relapsing, different pathological types, and monogenic mutation-related childhood nephrotic syndrome. It explores the clinical guiding role of machine learning in tacrolimus treatment for childhood nephrotic syndrome, aiming to provide references for the clinical research and application of tacrolimus in pediatric kidney diseases.

Objective To explore the trajectory of disability acceptance and the factors influencing it in first stroke patients.Methods A total of 202 first-ever stroke patients admitted to Wenzhou Central Hospital from December 2022 to December 2023 were selected,low acceptance group(n=38),medium acceptance group(n=96),and high acceptance group(n=68)based on the trajectory of disability acceptance after discharge.Multivariate Logistic regression was applied to explore the factors affecting disability acceptance in first-episode stroke patients.Results The total score of acceptance of disability scale-revised(ADS-R)in stroke patients was(89.93±13.51)points.There were differences between three groups in terms of age,education level,family income,caregiver or no caregiver,severity of illness,medical social support scale(MOS-SSS)scores,herth hope index(HHI)scores,and patient health questionnaire depression scale-9 scores(P＜0.05).Multivariate Logistic regression analysis reveled that age(OR=12.419,95％CI:3.967-38.882),absence of caregiver(OR=5.793,95％CI:1.989-16.875),severity of the condition(OR=5.724,95％CI:1.927-16.999)were risk factors affecting disability acceptance in first-episode stroke patients(P＜0.05),while educational level(OR=0.207,95％CI:0.069-0.624),household income(OR=0.238,95％CI:0.079-0.712),and MOS-SSS score(OR=0.502,95％CI:0.303-0.832)were protective factors(P＜0.05).Conclusion There are three different trajectories of disability acceptance in first-episode stroke patients.Age,presence or absence of caregivers,severity of the condition,education level,household income,and MOS-SSS score are influencing factors of disability acceptance in first-episode stroke patients and can be used as predictive factors for disability acceptance trajectories.

Objective To establish an expert consensus on the management of low anterior resection syndrome(LARS)in patients with rectal cancer post-surgery(hereinafter referred to as"consensus"),aiming to standardize the related work of medical institutions in the context of post-operative LARS.Methods A comprehensive search of domestic and international databases was conducted to collect guidelines,expert consensuses,systematic reviews,evidence summaries,and original research related to post-operative LARS in rectal cancer published from the establishment of the databases until August 2024.Based on clinical practice experience,a preliminary draft of the"consensus"was formed.From September to November 2024,22 experts were invited to participate in 2 rounds of expert consultations,during which the draft content was revised and improved,and the final version of the"consensus"was determined through expert validation.Results A total of 22 experts responded,achieving a response rate of 100％.The effective recovery rate of the consultation questionnaires in both rounds was 100％,with an expert authority coefficient of 0.89,a judgment coefficient of 0.97,and a familiarity degree of 0.84.The Kendall harmony coefficients for the 2 rounds of expert consultations were 0.122 and 0.136,respectively(P＜0.001).This consensus covers 5 main aspects:definition,assessment,prevention,treatment,and follow-up management of LARS.Conclusion This consensus demonstrates a high level of scientific rigor and can provide a strong reference for clinical nursing personnel in the specialized care of rectal cancer patients with post-operative LARS.