Objective:To investigate the neural function and Insulin-like growth factor-1 (IGF-1) in post-stroke depression (PSD) model rats. The effect of IGF-1 on mitogen activated protein kinase (MAPK) signaling pathway.Methods:15 male SD rats were selected as sham-operation group. PSD rat model was prepared by Longa method and chronic unpredictability mild stress method with 70 rats. The successfully constructed PSD rats were divided into model group, fluoxetine group (2.31 mg/kg fluoxetine, gavage), electroacupuncture group [stimulation of "Baihui"(GV20), "Fengfu"(GV16), "Shenting"(GV24) and "Taichong"(LR3) acupoints by electroacupuncture]and positive drug group [stimulation of "Baihui"(GV20), "Fengfu"(GV16), "Shenting"(GV24) and "Taichong"(LR3) acupoints by electroacupuncture + 5 μl of Sb202190 solution was injected into the lateral ventricle with a concentration of 10 μmol/L]. According to random number table method, with 15 rats in each group. Each group received relevant administration, and the rats' body mass was measured at the end of treatment. mNSS scale was used to evaluate the neurological impairment of rats; the behavioral function of rats was evaluated by sugar water preference test and forced swimming test; Nissl and TUNEL staining were used to observe the number of NissL bodies and the apoptosis rate of neurons in hippocampus; the level of serum IGF-1 was Nissl by enzyme-linked immunosorbent assay (ELISA); Western blot was used to detect the expressions of Caspase-3, Bax, Bcl-2, brain-derived neurotrophic factor (BDNF), cyclic adenosine monophosphate response element binding protein (CREB), p-CREB, IGF-1, mitogen activated protein kinase (MEK), p-MEK, ERK, p-ERK, JNK, p-JNK, p38 mitogen activated protein kinase (p38), p-p38 protein in brain tissue.Results:Compared with the model group, the weight of rats increased in the fluoxetine, electroacupuncture, and positive drug groups ( P<0.05); mNSS and forced swim test immobility time decreased ( P<0.05). Sucrose consumption percentage and struggling time in the forced swim test were markedly elevated ( P<0.05); Nissl body counts in hippocampal neurons increased ( P<0.05), accompanied by reduced neuronal apoptosis rates ( P<0.05); serum IGF-1 level significantly increased ( P<0.05); the protein expressions of Caspase-3 and Bax in hippocampus decreased ( P<0.05), while the protein expressions of Bcl-2, p-CREB/CREB, BDNF, IGF-1, p-MEK/MEK, p-ERK/ERK, p-JNK/JNK and p-p38/p38 increased ( P<0.05). Conclusions:Electroacupuncture can improve neural function and depressive behavior in rats, reduce pathological damage in hippocampus, increase the number of Nissl bodies, and inhibit apoptosis. The mechanism of electroacupuncture may be related to the increase of IGF-1 and the activation of MAPK signaling pathway.

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). METHODS: A child with HHS diagnosed at the Affiliated Hospital of Jining Medical University due to "developmental delay and anaemia" on April 27, 2024 was selected as the study subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members. Whole-exome sequencing was carried out, and candidate variant was verified by Sanger sequencing of his family members and bioinformatics analysis using CASAVA v1.8.2. The pathogenicity of the candidate variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by the American College of Medical Genetics and Genomics (ACMG). Relevant literature on HHS cases reported in China was reviewed to analyze the clinical and genetic characteristics. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-10-C003). RESULTS: The child, a 7-month-old boy, had mainly manifested with growth retardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency and bone marrow failure. Routine blood test indicated pancytopenia. The immunological workup showed reduction of B cells, NK cells and immunoglobulins. Cranial MRI demonstrated the volume of bilateral cerebellar hemispheres and brainstem and corpus callosum was small. Whole-exome sequencing revealed that he has harbored a hemizygous c.103_105del (p.Glu35del) variant of the DKC1 gene. Sanger sequencing showed that his mother and two sisters have carried the same variant. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PM1+PM4+PS4_Supporting+PM2_Supporting). Four relevant literature were retrieved, which has involved 8 HHS cases. Together with the patient from this study, they have consisted of 8 males and 1 females. The most common symptoms of the 9 patients were blood system abnormalities and developmental delay. All patients had shown cerebellar dysplasia and anemia/erythrocytopenia. Among them, 3 cases have harbored TINF2 gene variants, and 6 cases had harbored DKC1 gene variants. The c.103_105del variant has not been reported in China previously. CONCLUSION The hemizygous c.103_105del (p.Glu35del) variant of the DKC1 gene probably underlay the disease in this child. Above finding has expanded the mutational and phenotypic spectra of the DKC1 gene, and has facilitated early diagnosis of HHS in this child.
Humans ; Infant ; Male ; Cell Cycle Proteins/genetics* ; Dyskeratosis Congenita/genetics* ; Exome Sequencing ; Fetal Growth Retardation/genetics* ; Intellectual Disability/genetics* ; Microcephaly/genetics* ; Mutation ; Nuclear Proteins/genetics* ; X-Linked Intellectual Disability/genetics*

Objective The purpose of this article is to summarize and review the current status of the construction of clinical research evaluation systems in domestic public hospitals,identify existing problems in the evaluation system,and propose development strategies and suggestions.Methods Retrieved relevant articles,dissertations and policies from the past five years(2018-2022),screened the titles,viewed the full texts of 52 selected papers and their references,and summarized them.Results The"five-only"indicators have long been an important indicator for evaluating clinical research in public hospitals,but in today's scientific research environment and policy environment,the"five-only"evaluation system has revealed its utilitarian draw-backs and gradually evolved into a hindrance to scientific research.It is urgent to break through the"five-only"orientation and establish a clinical research evaluation system oriented towards"transforming and applying transformation of scientific research achievements".Conclusion The evaluation system for clinical research should break the previous"five-only"evaluation model based on quantity-oriented scientific research evaluation.We can draw on the framework of the research output,influence,and environment indicators in the UK's REF Excellence Framework model,combine the American APT system and the Chinese STEM indicator dimensions,explore multi-outcome evaluation,integrate developmental indicators,and continuously improve the indica-tor system and application methods in practice to promote the development of clinical research in public hospitals.

Objective: To explore the association among neck-shoulder pain (NSP), low back pain (LBP) and co occurring symptoms with mental sub health in adolescents, so as to provide evidence for improving physical and mental health of adolescents. Methods: Stratified cluster random sampling method was used to select 7 986 students from 12 middle and high schools in Shenzhen, Nanchang, and Shenyang cities from October to December 2019. The Assessment of Spinal Health of Youth (ASHY) and the Brief Instrument on Psychological Health of Youth (BIOPHY) were used to assess NSP, LBP and mental sub health. Binary Logistic regression model was used to analyze the association between NSP, LBP and co occurring symptoms with mental sub health in adolescents. Results: The detection rates of adolescents with NSP, LBP and co occurring symptoms and mental sub health were 9.1% , 9.8%, 9.5%, and 10.0%, respectively. The co occurring rate of neck shoulder pain, low back pain and mental sub health was 3.2%. After adjusting for confounding variables such as gender, age, being an only child, family residence, and parental education level, NSP ( OR=6.01, 95%CI =5.02-7.19), LBP ( OR=5.08, 95%CI =4.25-6.07), and co occurring symptoms ( OR= 5.96 , 95%CI =4.98-7.12) in adolescents were positively correlated with mental sub health risk ( P <0.01). Stratifying the gender, boys with NSP, LBP and co occurring symptoms ( OR =6.84, 5.80, 6.74)had a higher risk of mental sub health compared to girls ( OR =5.52, 4.65, 5.49) ( P <0.01). Conclusions NSP, LBP and co occurring symptoms in adolescents are associated with mental sub health. The mental health status of boys is more affected by NSP, LBP and their co occurring symptoms. Measures should be taken to improve spinal health in adolescents to reduce the incidence of mental sub health.

Objective To explore the diagnostic value of serum neuronal Per-Arnt-Sim domain protein 4(NPASDP-4)and myelin basic protein(MBP)expression in patients with Parkinson's disease in relation to cognitive impairment(CI)and severity.Methods Selected and 138 Parkinson's disease patients admitted to the 909th Hospital of the Joint Logistics Support Force of the People's Liberation Army of China as the Parkinson's disease group,and 69 healthy people in the physical examination center of the hospital were in the healthy control group.Patients with Parkinson's disease were divided into normal cognitive function group(n=55),mild CI group(n=51)and dementia group(n=32)according to whether CI occurred and its severity.General data of subjects was collected,the serum levels of NPASDP-4 and MBP were detected by ELISA,correlation analysis was adopted by Spearman rank correlation or Pearson linear correlation,diagnostic value was analyzed by ROC curve,and influencing factors were analyzed by multivariate Logistic regression.Results Compared with the healthy control group,the levels of serum NPASDP-4(6.75±0.48 ng/ml vs 2.38±0.31 ng/ml)and MBP(8.34±0.65 μg/L vs 3.54±0.42 μg/L)in the Parkinson's disease group were increased with statistical significance(r=68.751,55.761,all P＜0.05).There were significant differences in H-Y stage among the normal cognitive function group,mild CI group and dementia group(x2=7.788,P＜0.05).Compared with the group with normal cognitive function(47.92±11.63 score),the mild CI group(50.78±13.69 score)and the dementia group(41.95±10.36 score)showed an increase in UPDRS-Ⅲ scores,and the differences were statistically significant(H=6.672,all P＜0.05).In normal cognitive function group,mild CI group and dementia group,the course of disease,and serum NPASDP-4(5.89±0.40,6.83±0.55,8.12±0.54 ng/ml)and MBP(6.65±0.56,8.94±0.69,10.27±0.70μg/L)levels were significantly increased(H=207.950,355.594,allP＜0.05),while MMSE score(28.47±0.94,24.51±1.35,17.09±2.57 score),MoCA score(27.45±1.03,20.18±1.92,11.75±2.53 score)and GPCOG total score(13.47±0.69,10.25±1.04,8.97±0.82 score)were significantly decreased,and the differences were statistically significant(H=515.005,775.933,327.584,all P＜0.05),respectively.The serum levels of NPASDP-4 and MBP in Parkinson's disease patients were significantly positively correlated with the course of disease(r=0.316,0.358),H-Y stage(r=0.345,0.384)and UPDRS-Ⅲ score(r=0.371,0.396),and significantly negatively correlated with MMSE score(r=-0.468,-0.517),MoCA score(r=-0.504,-0.569)and GPCOG total score(r=-0.527,-0.538)(all P＜0.05),respectivey.The areas under the curve(AUC)of the serum levels of NPASDP-4,MBP and their combination in diagnosing of Parkinson's disease were 0.850,0.930 and 0.960,respectively.The AUC of the serum levels of NPASDP-4 and MBP and their combination in diagnosing the severity of CI in patients with Parkinson's disease were 0.866,0.803 and 0.933,respectively.H-Y stage metaphase[OR(95％CI):4.725(1.742～12.814)],H-Y stage advanced[OR(95％CI):5.083(1.919～13.464)],UPDRS-Ⅲ score[OR(95％CI):3.257(1.464～7.246)],NPASDP-4[OR(95％CI):5.324(1.516～18.701)]and MBP[OR(95％CI):5.769(2.459～13.533)]were the influential factors for CI in patients with Parkinson's disease(all P＜0.05).NPASDP-4[OR(95％CI):4.768(2.382～9.543)]and MBP[OR(95％CI);5.846(3.141～10.882)]were the influential factors for the severity of CI in patients with Parkinson's disease(all P＜0.05).Conclusion The serum levels of NPASDP-4 and MBP in patients with Parkinson's disease were high,and they were closely related to CI and its severity,which may have certain clinical diagnostic value.

Objective:To explore the application and clinical efficacy of functional neural navigation multimodal image fusion technology combined with intraoperative fluorescein sodium in the surgery of lung cancer brain metastases.Methods:Forty patients with lung cancer and brain metastasis admitted to the Department of Neurosurgery of Inner Mongolia Autonomous Region People's Hospital from January 2020 to January 2024 were collected as the observation group. Another 40 patients with lung cancer brain metastases who underwent microscopic resection at Inner Mongolia Autonomous Region People's Hospital from January 2016 to December 2019 were selected as the control group. All patients received head CT examination, head MRI examination, MRI enhanced sequence and MRA, MRV and DWI sequence scanning before operation. Functional neural navigation system was used to perform preoperative multi-modal image fusion to realize three-dimensional display of tumor lesions, and display the position relationship between tumor and functional areas, conduction bundles and large blood vessels, so as to make preoperative navigation plan. After conducting a fluorescein sodium allergy test on the patient before surgery, a small dose of fluorescein sodium (2 mg/kg) was intravenously injected during the operation. During the operation, neuro navigation was combined with fluorescein sodium to perform tumor resection by displaying the boundary between tumor tissue and normal brain tissue under a Pentero 900 Zeiss microscope 560 fluorescence mode. Both groups collected tumor tissue samples for pathological classification and immunohistochemical analysis, comparing and analyzing differences in tumor resection degree, postoperative occurrence of new neurological dysfunction, postoperative muscle strength improvement, changes in KPS scores before and after surgery, and the occurrence of complications. The metric data that conforms to normal distribution is represented by xˉ± s, and the comparison of means between two groups is conducted using independent sample t-test. Calculate the percentage based on the count data, and compare the inter group rates using the χ2 test. P<0.05 indicates statistical significance of the difference. Results:Compared with the control group, the total tumor resection rate of observation group (75.0% (30/40) ) and KPS score of 3 months after surgery (82.5% (33/40)) were better than those of the control group (52.5% (21/40) and 60% (24/40)), and the differences were statistically significant ( χ2 value was 4.94 and 4.38, P values were 0.026 and 0.036). The rate of postoperative new neurological dysfunction in the observation group (22.5% (9/40)) was lower than that in the control group (45.0% (18/40)), and the difference between the two groups was statistically significant ( χ2=4.53, P=0.033). The length of hospital stay ((21.48±3.23) days), operation time ((216.65±56.76) points) and complication rate (37.5% (15/40)) in observation group were lower than those in control group ((22.43±2.34) days, (225.62±37.68) points, 45.0% (18/40)). However, the difference was not statistically significant ( t/ χ2 values were 1.51, 0.83, and 0.46, respectively; P values were 0.136, 0.408, and 0.496, respectively). The 12-month survival rate of observation group (67.5%(27/45) respectively was significantly higher than that of control group (40.0%(16/40) respectively, and the difference was statistically significant ( χ2=6.08, P=0.014). Conclusion:Functional neural navigation multimodal image fusion technology combined with intraoperative fluorescein sodium can accurately locate the tumor and determine the boundary relationship between the tumor and normal brain tissue during lung cancer brain metastasis surgery, improve tumor resection rate, enhance patient quality of life, and ultimately improve patient prognosis without increasing the risk of related complications.

Objective:To explore the influence of pulmonary nodule size, nodule location, fissure, surgical approach, surgical entrance, postoperative pathology, surgical method and other factors on the relevant information of basal segmentectomy under thoracoscopy.Methods:Retrospectively analyze 103 patients who underwent thoracoscopic basal segmentectomy of the lung from January 2023 to February 2024. According to the classification of nodule size, nodule position, development of pulmonary fissure, surgical approach, number of surgical entrance, postoperative pathology, surgical method, tc., the influence of single factor Logistic regression analysis was used to explore the influence of various factors on the relevant information of pulmonary basal segmentectomy under thoracoscopy. Results:When the dependent variable was the surgery duration, single factor analysis showed that CT location( P=0.024), nodule composition( P=0.029), surgical entry( P=0.002), surgical method( P<0.001), and surgical approach( P=0.052) significantly influenced the surgery duration. Variables with P<0.1 in the single factor analysis were included in the multivariate analysis, which showed that surgical entry and surgical method significantly influenced surgery duration( P<0.05). When the dependent variable was the total hospitalization cost, single factor analysis showed that CT location, surgical approach, and surgical method significantly influenced the total hospitalization cost( P<0.1). Multiple factor analysis showed that the surgical method affected the total hospitalization cost, with significantly higher costs when S9 or S10 lung segments were resected( P=0.050). When the dependent variable was postoperative drainage duration, single factor analysis showed that the condition of the lung fissures significantly influenced postoperative drainage duration( P=0.028). Multiple factor regression analysis showed that incomplete lung fissure development significantly increased the possibility of postoperative air leaks( P=0.034). Conclusion:The surgical access may significantly affect the operation time, which is the use of uniport thoracoscopy is shorter than the multi-port operation time, the surgical method does not contain S9/S10 is shorter than that of S9/S10, and the total cost of hospitalization is lower. The completeness of the fissure will significantly decrease the possibility of postoperative pulmonary leakage.

To investigate the correlation between plasma D-dimer and subtype，severity and functional prognosis of patients with acute ischemic stroke. Methods The clinical，imaging and laboratory data of patients with acute ischemic stroke were confirmed by clinical and imaging in Peking Union Medical College Hospital from January 2013 to December 2020 were analyzed retrospectively. Results There were 1034 patients with acute ischemic stroke confirmed by clinical and imaging，of which 845 patients completed the detection of plasma D-dimer level within 24 hours and were included in this study. Plasma D-dimer levels was significantly different in different stroke subtypes （P<0.001）. Plasma D-dimer levels was positively correlated with NIHSS score （r=0.166，P<0.001） and mRS score （r=0.125，P<0.001）. Binary regression analysis showed that plasma D-dimer level was associated with poor functional prognosis （unadjusted OR=1.058，95%CI 1.019～1.099；adjusted model 1 OR=1.026，95%CI 1.014～1.091；adjusted model 2 OR=1.022，95%CI 0.984～1.061）. NIHSS score played a full mediation effect between plasma D-dimer level and poor functional prognosis. The sensitivity of plasma D-dimer levels in predicting the prognosis of poor functional prognosis was 54.9%，the specificity was 66.1%，and the area under the receiver operating characteristic （ROC） curve was 0.609.Conclusion We had shown that plasma D-dimer levels are significantly correlated with the etiological classification and severity of acute ischemic stroke，and plasma D-dimer levels may affect the functional prognosis through this correlation. In addition，plasma D-dimer levels can be used to predict poor functional prognosis of acute ischemic stroke.

In recent years, the global incidence of asthma is still on the rise.Studies have shown that exercise not only promotes bone development and improves cardiovascular fitness in children, but also facilitates symptom control, reduces medication use, and improves asthma-related quality of life in children with asthma.Exercise can cause asthma attacks and aggravation of symptoms, and some children with asthma have poor tolerance to exercise.This article provides a review of the current status of exercise in children with asthma, the use of exercise prescription in children with asthma, exercise-induced bronchospasm, and the choice of exercise prescription.

Objective:To investigate the clinical, skeletal muscle pathological, and genetic characteristics of fatal infantile hypertonic myofibrillar myopathy (FIHMM).Methods:The clinical manifestations, laboratory assessments data and gene sequencing results of 10 patients diagnosed with FIHMM in Shenzhen Children′s Hospital from February 2017 to April 2021 were retrospectively analyzed.Magnetic resonance imaging (MRI) of both musculoskeletal system and the brain, and electromyogram (EMG) were performed in 3 cases, while muscle biopsy was performed in 2 cases.Results:Among these 10 cases, 1 case was from Northeast China and 1 case from East China, while the rest 8 cases were from South China.Eight of the 10 patients were male, and the other 2 cases were female.They were all born normal and not related to each other.The age of onset varied from 2 to 12 months.The main clinical manifestations for all the patients were progressive rigidity of the rectus abdominis (8 cases), neck muscles (7 cases), rectus abdominis (2 cases) and intercostal muscles (1 case), resulting in respiratory failure.Mildly to moderately elevated serum creatine kinase level was detected (436-5 804 IU/L) (reference range: 24-229 IU/L). Complex repetitive discharges can be seen in the EMG, without any myotonic potential.Muscle fiber degeneration, necrosis, and vacuolar degeneration were noted in the histopathological examination of the vastus lateralis and rectus abdominis.An abnormal red granular deposit was observed in a portion of the field of the modified Gomory Trichrome staining.Immunohistochemistry showed substantial deposition of desmin.Under the electron microscopy, the sarcomere structure of the muscle fibers was seriously disordered, with the destruction of Z-bands and the presence of granular deposits.The whole-exome sequencing identified the same homozygous variation c. 3G>A, p.Met1? of CRYAB gene in all the patients, but heterozygous variation in their parents. Conclusions:Axial muscles involvement, such as rectus abdominis rigidity, is the main clinical characteristic of FIHMM.c.3G>A, p.Met1? mutation in the CRYAB gene is a hotspot mutation in Chinese children.