Objective:To analyze the clinical phenotypes and genetic characteristics of pediatric patients with neurofibromatosis type 1 (NF1).Methods:A cross-sectional study was adopted. Clinical and imaging data of 25 pediatric patients diagnosed as having NF1 in Department of Pediatric Neurology, Linyi People's Hospital Affiliated to Shandong Second Medical University from January 2024 to July 2025 were collected. Whole exome sequencing and Sanger sequencing were used to conduct genetic testing on the pediatric patients and his/her parents. Protein 3D modeling of the domestic and foreign unreported variations was conducted using SWISS-MODEL software.Results:Among the 25 pediatric patients with NF1, 14 were male (56%) and 11 were female (44%), with age ranging from 8 months to 18 years. All pediatric patients exhibited café-au-lait macules, and 7 (28%) presented with plexiform neurofibromas. Genetic test identified 4 types of NF1 variants: nonsense variant ( n=11, 44%), frameshift variant ( n=9, 36%), missense variant ( n=3, 12%), and splice-site variant ( n=2, 8%). Importantly, 5 novel NF1 variants were discovered, including c.3455T>A, c.3709dupG, c.2665_2684del, c.7092_7095delinsTA, and c.3260del. Three pediatric patients inherited NF1 variant from their parents, while the remaining 22 harbored de novo mutation. Conclusion:NF1 exhibits a broad clinical spectrum, primarily affecting the skin and nervous system; this study identifies 5 previously unreported variants, expanding the genetic profile of NF1.

Objective To investigate whether Danlou tablet-containing serum ameliorates lipid deposition in HepG2 cells by regulating oxidative stress.Methods Optimal treatment conditions,including concentration and exposure time of Danlou tablet and concentration of oleic acid,were determined,and their effects on cell viability were assessed using the CCK-8 assay.An in vitro model of lipid depo-sition was established by inducing HepG2 cells with oleic acid.HepG2 cells were divided into control,model(treated with oleic acid),and Danlou tablet groups(treated with oleic acid and Danlou tablet).Intracellular lipid droplets were visualized using oil red O staining.Lipid content including non-esterified fatty acid(NEFA)and triglyceride(TG),as well as oxidative stress markers in the cell supernatant,were quantified by enzyme-linked immunosorbent assay.Ultimately,reactive oxygen species(ROS)levels were measured using a fluores-cent probe.Results The optimal conditions were 10％Danlou tablet,24-hour treatment,and 800 μmol/L oleic acid.Compared with the control group,the model group exhibited significantly increased lipid droplet number and size,elevated supernatant levels of NEFA,TG,malondialdehyde,cyclooxygenase-2,and ROS(P＜0.01),and decreased levels of catalase and superoxide dismutase(P＜0.01).Compared with the model group,the Danlou tablet group showed reduced lipid deposition and oxidative stress markers,and increased antioxidant enzyme activity.Conclusion Danlou tablet may ameliorate oleic acid-induced lipid deposition in HepG2 cells by regulating oxidative stress response.

Objective To investigate whether Danlou tablet-containing serum ameliorates lipid deposition in HepG2 cells by regulating oxidative stress.Methods Optimal treatment conditions,including concentration and exposure time of Danlou tablet and concentration of oleic acid,were determined,and their effects on cell viability were assessed using the CCK-8 assay.An in vitro model of lipid depo-sition was established by inducing HepG2 cells with oleic acid.HepG2 cells were divided into control,model(treated with oleic acid),and Danlou tablet groups(treated with oleic acid and Danlou tablet).Intracellular lipid droplets were visualized using oil red O staining.Lipid content including non-esterified fatty acid(NEFA)and triglyceride(TG),as well as oxidative stress markers in the cell supernatant,were quantified by enzyme-linked immunosorbent assay.Ultimately,reactive oxygen species(ROS)levels were measured using a fluores-cent probe.Results The optimal conditions were 10％Danlou tablet,24-hour treatment,and 800 μmol/L oleic acid.Compared with the control group,the model group exhibited significantly increased lipid droplet number and size,elevated supernatant levels of NEFA,TG,malondialdehyde,cyclooxygenase-2,and ROS(P＜0.01),and decreased levels of catalase and superoxide dismutase(P＜0.01).Compared with the model group,the Danlou tablet group showed reduced lipid deposition and oxidative stress markers,and increased antioxidant enzyme activity.Conclusion Danlou tablet may ameliorate oleic acid-induced lipid deposition in HepG2 cells by regulating oxidative stress response.

Objective:To analyze the clinical phenotypes and genetic characteristics of pediatric patients with neurofibromatosis type 1 (NF1).Methods:A cross-sectional study was adopted. Clinical and imaging data of 25 pediatric patients diagnosed as having NF1 in Department of Pediatric Neurology, Linyi People's Hospital Affiliated to Shandong Second Medical University from January 2024 to July 2025 were collected. Whole exome sequencing and Sanger sequencing were used to conduct genetic testing on the pediatric patients and his/her parents. Protein 3D modeling of the domestic and foreign unreported variations was conducted using SWISS-MODEL software.Results:Among the 25 pediatric patients with NF1, 14 were male (56%) and 11 were female (44%), with age ranging from 8 months to 18 years. All pediatric patients exhibited café-au-lait macules, and 7 (28%) presented with plexiform neurofibromas. Genetic test identified 4 types of NF1 variants: nonsense variant ( n=11, 44%), frameshift variant ( n=9, 36%), missense variant ( n=3, 12%), and splice-site variant ( n=2, 8%). Importantly, 5 novel NF1 variants were discovered, including c.3455T>A, c.3709dupG, c.2665_2684del, c.7092_7095delinsTA, and c.3260del. Three pediatric patients inherited NF1 variant from their parents, while the remaining 22 harbored de novo mutation. Conclusion:NF1 exhibits a broad clinical spectrum, primarily affecting the skin and nervous system; this study identifies 5 previously unreported variants, expanding the genetic profile of NF1.

Herpes simplex encephalitis is known to cause intracranial hypertension and cerebral edema. When cerebral edema occurs, venous sinuses are compressed, resulting in congestion and thrombosis. An arteriovenous fistula may form as a result, particularly in conjunction with superior sagittal sinus thrombosis. In this report, the authors describe a patient with protein S and C deficiency who developed venous sinus thrombosis and dural arteriovenous fistula after experiencing herpes simplex encephalitis.

Embolic stroke of undetermined source （ESUS） is currently considered to be a subtype of cryptogenic stroke featuring embolic stroke on imaging but with no specific or recognized cause of stroke identified after careful diagnostic evaluation. It was speculated that anticoagulant therapy was more effective than antiplatelet therapy for secondary prevention of stroke in patients with ESUS. However， in fact， several ESUS trials showed that anticoagulant therapy was neither safer nor more effective compared with aspirin. Therefore， a more accurate understanding and determination of the etiology of ESUS is the key to treatment. In this paper， we discuss the background， definition， and diagnosis of ESUS， and analyze its etiology and the relationship between emboli and ESUS from the perspective of embolus source， with the aim to improve clinicians'understanding of ESUS.

Physical activity is closely related to the prognosis, recovery, and quality of life of childhood and adolescents with cancer. This article reviewed the assessment tools, influencing factors and major forms of intervention. The aim is to promote healthcare professionals to pay attention to the physical activity for childhood and adolescents with cancer, and provide reference for research on physical activity, and developing interventions to improve physical activity.

Objective:To investigate the potential risk factors for cryptogenic stroke (CS) in patients with patent foramen ovale (PFO).Methods:Patients underwent PFO closure in the Department of Cardiovascular Surgery, the Second Hospital of Hebei Medical University from June 2018 to December 2021 were enrolled retrospectively. Transesophageal echocardiography was used to evaluate the morphological characteristics of foramen ovale and right-to-left shunt (RLS). Multivariate logistic regression analysis was used to determine the independent risk factors for CS in patients with PFO. Results:A total of 203 patients with PFO were enrolled. Their age was 41.9±14.3, and 116 patients (57.1%) were male. There were 102 patients in CS group and 101 patients in non-stroke group. The age, body mass index, systolic blood pressure and diastolic blood pressure, and the constituent ratios of male, hypertension, diabetes, hyperlipidemia and smoking of the CS group were significant higher than those of the non-stroke group (all P<0.05). The PFO channel of the CS group was longer, wider and more combined with resting RLS (all P<0.05). Multivariate logistic regression analysis showed that systolic blood pressure (odds ratio [ OR] 1.065, 95% confidence interval [ CI] 1.022-1.111; P=0.003), PFO length ( OR 1.124, 95% CI 1.004-1.258; P=0.043) and resting RLS ( OR 5.449, 95% CI 2.283-13.004; P<0.001) were the independent risk factors for CS in patients with PFO. Conclusion:Systolic blood pressure, PFO length and the presence of resting RLS are the independent risk factors for CS in patients with PFO.

Cryptogenic stroke (CS) is a type of stroke that can not find the exact cause after using the standard clinical examination procedure of stroke. In recent years, many studies have shown that patent foramen ovale (PFO) is closely associated with CS, and its main pathogenesis is paradoxical embolism. In clinical practice, ultrasound is often used for PFO screening. In the context of PFO, the secondary prevention of CS includes drug therapy and PFO closure, but the choice of treatment is still controversial. Screening and evaluation of possible PFO will help to develop secondary prevention strategies for patients with CS, especially those who can benefit from PFO closure.

Objective:To explore the application effect of marital self-disclosure in young and middle-aged patients with early-stage lung cancer and their spouses.Methods:Using the convenient sampling method, a total of 86 patients with early-stage lung cancer who were admitted to the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2019 were selected as the research objects. They were divided into the control group ( n=44) and the experimental group ( n=42) by random number table method. The experimental group was given marital self-disclosure intervention on the basis of routine nursing, while the control group was given routine nursing. Before and after the intervention, Self-rating Anxiety Scale (SAS) , Herth Hope Index (HHI) and Caregiver Reaction Assessment (CRA) were used to compare the effects of intervention. In the end, 39 valid data were obtained in the control group and 38 in the experimental group. Results:After the intervention, the SAS score of the experimental group was lower than that of the control group, and the difference was statistically significant ( P<0.05) . The scores of all dimensions of HHI in the experimental group were higher than those in the control group, and the differences were statistically significant ( P<0.05) . There were statistically significant differences between the two groups in the mean scores of dimensions of self-esteem, disturbed time schedule and lack of family support in spouse CRA ( P < 0.05) . There was no statistically significant difference in the mean score of health problems and economic problems in spouse CRA between the two groups ( P>0.05) . Conclusions:Marital self-disclosure intervention can effectively reduce the anxiety level of young and middle-aged patients with early-stage lung cancer, enhance the hope level of patients and reduce the caring pressure of the patients' spouses.