Objective Taking into account the physical and mental characteristics of patients with COPD,we develop and implement a lung rehabilitation education game software,aiming to explore more effective health education practices for COPD.Methods Drawing on the Health Belief Model theory,the game content was developed by semi-structured interviews,brainstorming sessions,and expert consultations,and it was implemented via a WeChat mini program.Patients with COPD from the respiratory department of a tertiary general hospital of Luzhou city between March and October 2023 were conveniently selected as the study subjects.Among them,40 patients from July to October 2023 were designated as an experimental group,and another 40 from March to June 2023 constituted a control group.The experimental group was provided with routine health education combined with pulmonary rehabilitation games,whereas the control group received standard health education.After the intervention,the researchers compared the COPD knowledge questionnaire scores and pulmonary rehabilitation adherence between the 2 groups,and assessed the satisfaction of both patients and nurses with the software.Results No sample detachment.The score of the COPD knowledge questionnaire in the experimental group was higher than that in the control group,and the difference was statistically significant(Z=5.361,P＜0.001).The proportion of patients in the experimental group with good adherence to pulmonary rehabilitation(85％)was significantly higher than it in the control group(25％),(x2=29.091,P＜0.001).The patients'overall satisfaction rate with the game was 95％,with operational effectiveness receiving the highest satisfaction rating at 97％.Conclusion The pulmonary rehabilitation education game for patients with COPD can improve their knowledge of COPD,enhance their compliance with pulmonary rehabilitation.Patients have high satisfaction with the software.The software enriches the clinical health education methods,which can be used in clinical practice.

Objective:To explore the differences in the standardized z-score amplitude of low-frequency fluctuations (zALFFs) across different brain regions between children with global developmental delay (GDD) and healthy children (HC) using functional near-infrared spectroscopy (fNIRS), and correlating zALFF values with the subjects′ Gesell Developmental Scale (GDS) scores.Methods:Thirty-one children aged 2-4 years with GDD and 29 HC of the same age were studied. fNIRS was used to record both groups′ brain activity in response to natural stimuli and to measure any changes in oxygenated hemoglobin (HbO) levels in cerebral blood flow. zALFF values were calculated and the values of 44 channels were compared between the two groups. The correlations between zALFF values and GDS scores were computed.Results:The zALFF values of the children with GDD were significantly lower than those of the HC in the right frontal pole (channel 10) and the right pre-motor and supplementary motor areas (channel 43). In contrast, the zALFF values in the left pre-motor and supplementary motor areas (channels 24 and 26) were significantly higher in the children with GDD compared to the HC. Spearman ranked correlation analysis revealed that the zALFF values in the right pre-motor and supplementary motor areas (channel 43) were positively correlated with socialization scores on the GDS ( r=0.37, P≤0.05). Conclusions:The delays in cognitive and motor development in children with GDD may be associated with functional abnormalities in the right frontal polar region and the bilateral premotor and supplementary motor areas. zALFF values from the right premotor and supplementary motor areas are positively correlated with social skills.

Objective:To explore the clinical, genetic, and therapeutic prognostic characteristics of two pediatric cases of Lesch-Nyhan syndrome (LNS) in order to enhance understanding of this disease and investigate more effective treatment strategies.Methods:Clinical data were collected from two children clinically diagnosed with LNS who were treated at Anhui Provincial Children′s Hospital from April 2023 to January 2024. Data were collected retrospectively and included clinical manifestations (symptoms, signs, laboratory and imaging findings), treatment course, and follow-up results. Peripheral venous blood samples (2 mL each) were obtained from children 1 and his parents. Whole-exome sequencing (WES) was performed. Candidate variants were validated by Sanger sequencing to confirm the genetic etiology.Standard bioinformatic analysis of the raw WES data was conducted, including quality control, alignment, variant calling, and annotation. Candidate pathogenic variants were filtered using population frequency databases (e.g., gnomAD), disease databases (e.g., OMIM, ClinVar), and multiple in silico pathogenicity prediction tools (e.g., SIFT, PolyPhen-2, CADD). Phenotype matching was integrated using Human Phenotype Ontology (HPO) terms. Pathogenicity classification of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (2015). This study was approved by the Medical Ethics Committee of Anhui Children′s Hospital, Children′s Hospital of Fudan University (Approval No.: EYLL-2014-027).Results:Case 1, a 4-year-old boy presented with "developmental delay for over 3 years, accompanied by abnormal postures and involuntary lip-biting". Physical examination revealed limb dystonia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant in the HPRT1 gene, c. 135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, confirming the diagnosis of LNS. This variant was absent from population databases (gnomAD, 1000 Genomes, dbSNP). Protein function prediction tools consistently indicated pathogenic or likely pathogenic variant (SIFT, PolyPhen-2, CADD, and REVEL scores all reached pathogenic thresholds). Protein structural modeling revealed that the mutation disrupts the hydrogen-bonding network, compromising tetramer stability. ACMG classification designated it as likely pathogenic (PM1 + PM2_Supporting + PM5 + PP3). The patient was treated with benhaxol hydrochloride, baclofen, and clonazepam to improve neurological symptoms, and also received treatment with febuxostat in the nephrology department to manage purine metabolism. After one year of follow-up, the patient′s abnormal posture showed slight improvement, self-injurious behavior persisted but was managed with protective gloves, blood uric acid levels normalized, and renal stones decreased. Case 2, a 13-year-old boy was hospitalized in the nephrology department due to a urinary tract infection. Following successful infection treatment, his limb dystonia worsened, leading to his transfer to the neurology ward. The patient had a history of delayed motor and language development, abnormal postures, and lip-biting self-injurious behavior, with elevated blood uric acid levels, leading to an LNS diagnosis. The parents declined genetic testing due to financial constraints. Following discharge, the patient did not adhere to the prescribed medication regimen or attend scheduled outpatient visits. The patient had died by the time of the 4-month follow-up contact. Conclusion:HPRT1 gene variants are the genetic cause of LNS in children, and the HPRT1 gene is the only known pathogenic gene for LNS. Early genetic diagnosis, strict adherence to multidisciplinary comprehensive treatment, and intensive intervention for self-injurious behaviors are crucial for improving the quality of life and prolonging survival in children with LNS.

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.

Chaihu Guizhi Ganjiangtang （CGG）is a classic prescription in the Treatise on Cold Damage，which has the effects of clearing and relieving stagnation heat in Shaoyang，warming and dissolving water drink，and relieving the pivot mechanism. It is a classic prescription for treating spleen deficiency and liver depression and stopping internal stagnation caused by water drink. The formula is exquisite and well-matched and is often modified and used by ancient and modern medical practitioners to treat various miscellaneous diseases of internal and external medicine，with significant therapeutic effects. In recent years，with the rapid development of modern pharmacology，research on the micro mechanism of CGG has been continuously developed and deepened，providing new ideas for the treatment of diseases with CGG. Therefore，the authors systematically searched databases such as China National Knowledge Infrastructure，Wanfang Data Knowledge Service Platform，VIP Database， and PubMed for literature on the clinical application and pharmacological mechanism of CGG published by Chinese and foreign scholars in recent years. This article summarized the literature from two aspects：the modern clinical application and mechanism of action of CGG and elaborated on the diseases treated by CGG in modern literature，involving digestive system，respiratory system，nervous system，endocrine system，circulatory system，urinary system，gynecology，as well as its application in reducing the side effects of radiotherapy and chemotherapy， gynecology， dermatology， ophthalmology， and orthopedics. At the same time，the mechanism of CGG in treating diseases may be related to anti-inflammatory，anti-oxidative stress， regulation of immunity， anti-fibrosis， anti-tumor， improvement of gastrointestinal flora and motility， protection of liver tissue， reduction of blood lipids and blood sugar， and regulation of hormone levels.

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 explore the clinical, genetic, therapeutic and prognostic characteristics of two children with Lesch-Nyhan syndrome (LNS) in order to enhance understanding of this disease and formulate more effective therapeutic strategies. METHODS: Clinical data were collected from two children clinically diagnosed with LNS who were treated at Anhui Provincial Children's Hospital from April 2023 to January 2024. Data were retrospectively collected and included clinical manifestations (symptoms, signs, laboratory and imaging findings), treatment course, and results of follow-up. Peripheral venous blood samples were obtained from child 1 and his parents. Whole-exome sequencing (WES) was performed. Candidate variants were validated by Sanger sequencing. Standard bioinformatic analysis of the raw WES data was conducted, including quality control, alignment, variant calling, and annotation. Candidate pathogenic variants were filtered using population frequency databases (e.g., gnomAD), disease databases (e.g., OMIM, ClinVar), and multiple in silico pathogenicity prediction tools (e.g., SIFT, PolyPhen-2, CADD). Phenotype matching was integrated using Human Phenotype Ontology (HPO) terms. Pathogenicity classification of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (2015). This study was approved by the Medical Ethics Committee of Anhui Children's Hospital, Children's Hospital of Fudan University (Ethics No.: EYLL-2014-027). RESULTS: Child 1, a 4-year-old boy, had presented with developmental delay for over 3 years, accompanied by abnormal postures and involuntary lip-biting. Physical examination revealed limb dystonia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant of the HPRT1 gene, c.135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, which confirmed the diagnosis of LNS. This variant was absent from population databases (gnomAD, 1000 Genomes, dbSNP). Protein function prediction tools consistently indicated it as a pathogenic or likely pathogenic variant (SIFT, PolyPhen-2, CADD, and REVEL scores all reached pathogenic thresholds). Protein structural modeling revealed that the variant may disrupt the hydrogen-bonding network compromising the tetramer stability. ACMG classification designated it as likely pathogenic (PM1+PM2_Supporting+PM5+PP3). The patient was treated with benhaxol hydrochloride, baclofen, and clonazepam to improve his neurological symptoms, in addition with treatment with febuxostat from the Nephrology Department to manage his purine metabolism. After one year of follow-up, the patient's abnormal posture showed slight improvement, self-injurious behavior persisted but was managed with protective gloves, blood uric acid levels normalized, and renal stones decreased. Case 2, a 13-year-old boy, was hospitalized to the Nephrology Department due to urinary tract infection. Following successful control of the infection, his limb dystonia has worsened, leading to his transfer to the Neurology Ward. The patient had a history of delayed motor and language development, abnormal postures, and lip-biting self-injurious behavior, with elevated blood uric acid levels, leading to the diagnosis of LNS. His parents had declined genetic testing due to financial constraints. Following discharge, the patient did not adhere to the prescribed medication regimen or attend scheduled outpatient visits. The patient had died by the time of the 4-month follow-up contact. CONCLUSION Variants of the HPRT1 gene probably underlay the LNS in the two children, and the HPRT1 is the only known pathogenic gene for LNS. Early genetic diagnosis, strict adherence to multidisciplinary comprehensive treatment, and intensive intervention for self-injurious behaviors are crucial for improving the quality of life and prolonging the survival of children with LNS.
Humans ; Male ; Lesch-Nyhan Syndrome/diagnosis* ; Exome Sequencing ; Child, Preschool ; Phenotype ; Infant ; Child ; Female ; Retrospective Studies ; Mutation

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.