Objective To explore the prognostic impact and clinical application value of therapeutic plasma exchange(TPE)intervention timing and liver injury periodization in patients with exertional heat stroke(EHS).Methods Data of 127 EHS patients from the First Medical Center of the General Hospital of the People′s Liberation Army from January 2011 to December 2023 were collected,then divided into the death group and the survival group based on therapeutic outcomes and into 5 stages according to the dynamic changes of ALT,AST,TBIL and DBIL.According to propensity score matching analysis,11 patients in the survival group and 12 patients in the death group were included in the statistical analysis,and 20 of them were treated with TPE.The changes in indicators and clinical outcomes before and after TPE were observed,in order to evaluate the impact of intervention timing on prognosis.Results Among the 23 patients,14 had no liver injury or could progress to the repair phase,resulting in 3 deaths(with the mortality rate of 21.43%),while 9 patients failed to pro-gress to the repair phase,resulting in 9 deaths(with the mortality rate of 100%),with significant differences(P＜0.05).The mortality rate of the first TPE intervention before the third stage of liver injury was 23.08%(3/13),while that of interven-tion after reaching or exceeding the third stage was 85.71%(6/7),and the difference was statistically significant(P＜0.05).Conclusion TPE should be executed actively in EHS patients combined with liver injury before the third phase to lock its pathological and physiological processes,thereby improving prognosis and reducing mortality.

OBJECTIVE: To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM). METHODS: A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients. RESULTS: This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic. CONCLUSION The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.
Humans ; Computational Biology ; Genetic Counseling ; Genomics ; Mutation ; Neurodevelopmental Disorders/genetics* ; Dyskinesias ; GTP-Binding Protein alpha Subunits, Gi-Go

ObjectiveTo observe the characteristics of gait symmetry and its influencing factors in patients with incomplete spinal cord injury (ISCI). MethodsFrom May, 2018 to November, 2021, 34 patients with ISCI in Beijing Bo'ai Hospital were divided into symmetrical injury of lower limb (SI) group and asymmetrical injury of lower limb (ASI) group according to the lower extremities motor score (LEMS). Three dimensional motion acquisition system and plantar pressure acquisition system were used for gait test. The symmetry indexes of step length, stance time and swing time were caculated. ResultsThe symmetry indexes of step length, stance time and swing time were significant lower in SI group than in ASI group (|t| > 2.619, P < 0.01). Stance time and swing time significantly correlated to the difference of bilateral LEMS in ASI group (r > 0.468, P < 0.01). Discriminant analysis showed that gait parameter equations were different for patients with different symmetry of lower limb injuries. ConclusionThe symmetry of lower limb motor function impacts gait symmetry for patients with ISCI, especially the difference value of bilateral total LEMS. Gait parameters can be used to determine the symmetry of lower limb injury in patients with ISCI.

ObjectiveTo explore the application of Brain and Spinal Injury Center (BASIC) score in evaluation of traumatic cervical spinal cord injury. MethodsFrom January, 2015 to December, 2021, 175 patients with traumatic cervical spinal cord injury in Beijing Bo'ai Hospital were analyzed. Gender, age, cause of injury, injury mechanism and American Spinal Injury Association Impairment Scale (AIS) grade were collected. The sagittal and axial T₂ weighted imaging (T₂WI) of the patients were evaluated with BASIC score, single/multi-segment injury, and with/without intramedullary hemorrhage. According to the injury mechanism, the patients were divided into two groups: with fracture/fracture dislocation (n = 92) and without fracture and dislocation (n = 83). The baseline demographic indicators and T₂WI evaluation indicators were compared between the two groups, and the relationship between AIS grade and BASIC score, intramedullary hemorrhage, single/multi-segment injury were investigated. ResultsThere were significant differences in gender, age and AIS grade, BASIC score, and the rates of inntramedullary hemorrhage and single segment injury of T₂WI between two groups (t = -10.276, χ² > 8.703, P < 0.01); however, no difference was found in the cause of injury (P > 0.05). The AIS grade was significantly correlated with the BASIC score (r = 0.790, P < 0.001). There was significant difference in AIS grade between intramedullary hemorrhage or not, and single/multi-segment injury (χ² > 5.516, P < 0.05). ConclusionThe BASIC score of T₂WI is a predictor of the severity of spinal cord injury after traumatic cervical spinal cord injury, and is different with the injury mechanisms.

Objective:To analyze the clinical characteristics and prognostic factors of high-risk neuroblastoma (HR-NB) patients with skeletal metastasis.Methods:The clinical features of 336 newly treated HR-NB patients with skeletal metastases admitted to the Department of Medical Oncology of Beijing Children′s Hospital, Capital Medical University from January 2007 to December 2018 were analyzed retrospectively.Kaplan-Meier method was used for the survival analysis, and Log- Rank test was used for univariate prognosis analysis.The Cox model was used to analyze the multifactorial prognostic analysis. Results:A total of 336 HR-NB patients were recruited, involving 188 males and 148 females with the median age of onset of at 43 (4-148) months.Skeletal metastases affected the viscerocranium (89 cases, 26.5%), neurocranium (193 cases, 57.4%), vertebrae (298 cases, 88.7%), sternum and ribs (183 cases, 54.5%), pelvis (270 cases, 80.4%), upper limbs (182 cases, 54.2%) and lower limbs (240 cases, 71.4%). The 5-year event-free survival (EFS) rate and overall survival (OS) rate were (30.4±2.7)% and (41.3±2.9)%, respectively.Univariate analysis showed a significantly lower 5-year OS rate in skeletal metastatic HR-NB patients with poor prognostic classification, the morphology of neuroblastoma (stroma-poor) and ganglioneuroblastoma (intermixed), high index of mitosis-karyorrhexis index, lactate dehydrogenase≥587 U/L, serum ferritin≥92 μg/L, MYCN amplification and 1p loss of heterozygosity, and metastases in the viscerocranium, neurocranium, vertebrae, sternum and ribs, pelvis, upper limbs and lower limbs (all P<0.05). The 5-year OS rate of HR-NB patients with all 7 regions of skeletal metastases was only (14.2±5.9)%, which was significantly lower than that in patients with a single region metastasis or multi-region metastases[(66.0±10.2)% vs.(43.6±3.4)%, χ2=45.722, P<0.05]. Cox multifactorial analysis showed that MYCN amplification ( HR=4.165, 95% CI: 2.356-7.363) and the viscerocranium metastasis ( HR=2.560, 95% CI: 1.519-4.315) were the independent risk factors affecting the prognosis of HR-NB patients with skeletal metastases (all P<0.05). Conclusions:The prognosis is extremely poor in HR-NB patients with multiple skeletal metastases at the initial diagnosis.The amplification of MYCN and the viscerocranium metastasis are the poor prognostic factors for HR-NB patients with skeletal metastases.

Human respiratory syncytial virus(hRSV)is one of the main pathogens that cause lower respiratory tract infection in infants and the elderly.hRSV genome contains 10 genes with a full length of 15 222 bp,encoding 11 proteins(9structural proteins and 2 non-structural proteins).Different proteins play different roles in the pathogenesis of hRSV.With the in-depth research on the biological and structural characteristics of hRSV,various types of hRSV vaccines have been developed,making rapid progress.For example,hRSV attenuated live vaccine hRSV ?NS2/?1313/I1314L has entered Phase II clinical trial,and hRSV subunit protein vaccine Pre-F-GCN4t has entered Phase III clinical trial.In this paper,the biological characteristics of hRSV and the types of hRSV vaccines with rapid progress are reviewed so as to provide a reference for the development of hRSV vaccines in China.

Mucinous adenocarcinoma of the prostate is a rare pathological type of prostate cancer. We reported one case. The patient went to see a doctor because of intermittent hematuria. He was diagnosed as prostate adenocarcinoma before operation. He underwent laparoscopic radical prostatectomy. Postoperative pathological examination showed mucinous adenocarcinoma of the prostate. The patient was followed up for six months. Imaging showed no signs of recurrence and metastasis with normal tPSA.

OBJECTIVE: To investigate the mechanism of regulatory T cells (Treg) in heat stroke (HS)-induced acute kidney injury (AKI). METHODS: Male SPF Balb/c mice were randomly divided into control group, HS group (HS+Rat IgG), HS+PC61 group, and HS+Treg group (n = 6). The HS mice model was established by making the body temperature of the mice reach 42.7 centigrade at room temperature 39.5 centigrade with relative humidity 60% for 1 hour. In HS+PC61 group, 100 μg PC61 antibody (anti-CD25) was injected through the tail vein in consecutive 2 days before the model was established to eliminate Tregs. Mice in HS+Treg group was injected with 1×10⁶ Treg via tail vein immediately after successful modeling. The proportion of Treg infiltrated in the kidney, serum creatinine (SCr) and histopathology, levels of interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) both in the serum and kidney tissue, as well as proportion of neutrophils and macrophages located in the kidney were observed at 24 hours after HS. RESULTS: HS dampened renal function and exaggerated kidney injury, up-regulated levels of inflammatory cytokines both in local kidney and circulation, and increased infiltration of neutrophils and macrophages to the injured kidneys. The proportion of Treg (Treg/CD4⁺) infiltrated in kidney was significantly decreased in HS group, compared with control group [(3.40±0.46)% vs. (7.67±0.82)%, P < 0.01]. Compared with HS group, local Tregs in kidney were almost completely depleted via PC61 antibody [(0.77±0.12)% vs. (3.40±0.46)%, P < 0.01]. Depletion of Tregs could exacerbate HS-AKI, indicating by increased serum creatinine [SCr (mmol/L): 348.22±35.36 vs. 254.42±27.40, P < 0.01] and pathological injury (Paller score: 4.70±0.20 vs. 3.60±0.20, P < 0.01), incremental levels of IFN-γand TNF-α both in injured kidney and serum [serum IFN-γ (ng/L): 747.70±64.52 vs. 508.46±44.79, serum TNF-α (ng/L): 647.41±26.62 vs. 464.53±41.80, both P < 0.01], and more infiltrated neutrophils and macrophages in the injured kidney [neutrophil proportion: (6.63±0.67)% vs. (4.37±0.43)%, macrophage proportion: (38.70±1.66)% vs. (33.19±1.55)%, both P < 0.01]. On the contrast, adoptive transfer of Tregs could reverse the aforementioned effects of Treg depletion, indicating by incremental proportion of Tregs in the injured kidney [(10.58±1.19)% vs. (3.40±0.46)%, P < 0.01], decreased serum creatinine [SCr (mmol/L): 168.24±40.56 vs. 254.42±27.40, P < 0.01] and pathological injury (Paller score: 2.73±0.11 vs. 3.60±0.20, P < 0.01), reduced levels of IFN-γ and TNF-α both in injured kidney and serum [serum IFN-γ (ng/L): 262.62±22.68 vs. 508.46±44.79, serum TNF-α (ng/L): 206.41±22.58 vs. 464.53±41.80, both P < 0.01], and less infiltrated neutrophils and macrophages in the injured kidney [neutrophil proportion: (3.04±0.33)% vs. (4.37±0.43)%, macrophage proportion: (25.68±1.93)% vs. (33.19±1.55)%, both P < 0.01]. CONCLUSIONS Treg might be involved in HS-AKI, possibly via down-regulation of pro-inflammatory cytokines and infiltration of inflammatory cells.
Male ; Animals ; Mice ; Rats ; T-Lymphocytes, Regulatory ; Creatinine ; Tumor Necrosis Factor-alpha ; Heat Stroke ; Acute Kidney Injury ; Cytokines ; Interferon-gamma

Objective:To establish a method for the determination of 4-methyl-2-pentanol in the air of workplace by gas chromatography.Methods:In January 2022, 4-methyl-2-pentanol in the air of workplace was collected by activated carbontube, eluted with dichloromethane-methanol (95∶5, V/ V), separated by capillary column and determined by gas chromatogram. Results:The limit of detection for 4-methyl-2-pentanol was 0.04 μg/ml. The linear range of 4-methyl-2-pentanol was 0.16-1616.60 μg/ml, with the regression equation of y=1.94 x-5.48, and the coefficient correlation was 0.99958, and the minimum detection concentration was 0.03 mg/m 3 (collected sample volume was 1.50 L). The within-run precisions were 1.08%-1.75% and the between-run precisions were 1.41%-2.52%. The desorption rates were 95.15%-99.91%. The samples could be stored at least 3 days at room temperature and 7 days at 4 ℃ without significant loss. Conclusion:The method has the advantages of good precision, high sensitivity and simple operation. It is suitable for the determination of 4-methyl-2-pentanol in the air of workplace.

Objective:To establish a method for the determination of 4-methyl-2-pentanol in the air of workplace by gas chromatography.Methods:In January 2022, 4-methyl-2-pentanol in the air of workplace was collected by activated carbontube, eluted with dichloromethane-methanol (95∶5, V/ V), separated by capillary column and determined by gas chromatogram. Results:The limit of detection for 4-methyl-2-pentanol was 0.04 μg/ml. The linear range of 4-methyl-2-pentanol was 0.16-1616.60 μg/ml, with the regression equation of y=1.94 x-5.48, and the coefficient correlation was 0.99958, and the minimum detection concentration was 0.03 mg/m 3 (collected sample volume was 1.50 L). The within-run precisions were 1.08%-1.75% and the between-run precisions were 1.41%-2.52%. The desorption rates were 95.15%-99.91%. The samples could be stored at least 3 days at room temperature and 7 days at 4 ℃ without significant loss. Conclusion:The method has the advantages of good precision, high sensitivity and simple operation. It is suitable for the determination of 4-methyl-2-pentanol in the air of workplace.