Child ; Humans ; Male ; Muscles ; pathology ; physiopathology ; Myopathies, Structural, Congenital ; diagnosis ; Prognosis

Objective To explore the feasibility to apply case mix index ( CMI) in risk assessment of clinical nursing units. Methods Questionnaire was designed and used to evaluate risk ratings for 43 nursing units with wards, with the survey results subject to expert scoring. The units consisted of 16 in surgical system, 15 in internal medicine, and 7 in traditional Chinese medicine system. Statistical method was used to analyze the correlation of the expert scoring and CMI. Results The CMI of nursing units and expert scoring results had strong correlation (r=0. 69, P<0. 05). Two groups of data in surgical system and internal medicine system were highly correlated (r= 0. 716, P<0. 05; r= 0. 643, P<0. 05 respectively), while the two groups of data in traditional Chinese medicine system had no correlation (r=0. 572, P>0. 05). Conclusions CMI can be used as a reference for dynamic risk assessment of nursing units.

Objective To investigate the specpfic electric fiberobronchoscopic manifestations of refractory Mycoplasma pneumoniae pneumonia(RMPP) and explore the level of IL-17,IL-18,PTX3 in bronchoalveolar lavage fluid(BALF) and their clinical sigfinance.Methods To select patients who were diagnosed as MPP and examined by fiberobronchoscopy in acute stage.Dividing them into groups:(1) RMPP group (60cases):dividing RMPP patients into three groups according to if they were treated by systemic corticosteroids or immunoglobulin before the examination of fiberbronchoscope,① RMPP-A group:both are not used.②RMPP-B group:use systemic corticosteroids.③ RMPP-C:both are used.(2)general MPP group(35 cases).15 children with foreign body in bronchus were enrolled as control group.Firstly,to analysis the electric fiberobronchoscopic manifestations of all the cases.Secondly,the cases who had BALF samples in all group were selected,the levels of IL-17,IL-18 and PTX3 are detected by ELISA.Results Under electric fiberobronchoscopy,that the proportions of RMPP group with mucosal erosion,necrotic mucous membrane peeling,sputum bolt blockage in bronchial lumen or moulding are higher than general MPP group.The levels of IL-17,IL-18 and PTX3 in BALF of all MPP cases are higher than control group (P ＜ 0.05),but only the difference of IL-18 between RMPP group and general MPP group has statistical significance (P ＜ 0.05).The levels of IL-17,IL-18 and PTX3 in BALF of RMPP-B group are all higher than RMPP-A group (P ＜ 0.05).Conclusion Mucosal erosion,necrotic mucosa peeling and sputum bolt,moulding are the characteristic manifestations of RMPP,and can help identify RMPP.IL-17,IL-l8 and PTX3 all participated in the pathogenesis of RMPP.Only the level of IL-18 in BALF can be the predictive marker of RMPP.Systemic corticosteroids may inhibit the levels of IL-17,IL-18 and PTX3 of RMPP patients.

Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.

Objective:To compare the clinical effects of platelet-rich plasma (PRP) and sodium hyaluronate on rotator cuff injury.Methods:From February 2022 to December 2022, 226 patients with rotator cuff injury caused by military training were treated at Department of Orthopaedics, Jinling Hospital, School of Medicine, Nanjing University. They were all male, aged (24.5±3.7) years, and their time from injury to treatment was (4.6±2.2) months. They were divided into 2 even groups according to different treatments: an observation group of 113 cases into whose subacromial space PRP was injected, and a control group of 113 cases into whose subacromial space sodium hyaluronate was injected. In both groups, the injection was performed once a week for consecutive 3 weeks. The 2 groups were compared in terms of visual analogue scale (VAS) and Constant-Murley shoulder function scale (CMS) before treatment and 4 and 8 weeks after treatment, and the levels of TNF- α and IL-6 in the shoulder synovial fluid before treatment and 8 weeks after treatment. Results:There was no statistical difference between the 2 groups in general clinical data before treatment, indicating comparability ( P>0.05). At 4 and 8 weeks after treatment, compared with the pre-treatment values, the VAS scores were significantly decreased and the Constant-Murley scores significantly increased in both groups ( P<0.001). At 4 and 8 weeks after treatment, the VAS scores in the observation group (3.1±0.9 and 1.5±0.5) were significantly lower than those in the control group (3.7±0.8 and 2.3±0.6) while the Constant-Murley scores in the observation group (58.6±4.5 and 72.2±4.1) significantly higher than those in the control group (55.2±5.3 and 67.8±5.0) ( P<0.001). At 8 weeks after treatment, the levels of TNF- α and IL-6 in the 2 groups were significantly lower than the levels before treatment ( P<0.001). At 8 weeks after treatment, the levels of TNF- α and IL-6 in the observation group [(2.9±0.9) μg/L and (0.8±0.2) μg/L] were significantly lower than those in the control group [(4.0±0.4) μg/L and (1.1±0.4) μg/L] ( P<0.001). Conclusion:Injection of PRP or sodium hyaluronate can relieve pain and improve shoulder function obviously in patients with rotator cuff injury, but PRP is superior to sodium hyaluronate in the treatment of rotator cuff injury.

AIM: To analyze the chemical ingredients of Qingxin-zishen prescription decoction (QZPD) and predict its main pharmacodynamic substances and mechanism in the prevention and treatment of menopause syndrome (MPS) with the help of high performance liquid chromatography-quadrupole-time of flight mass spectrometry (HPLC-Q-TOF/MS) combined with network pharmacology. METHODS: The chemical ingredients of QZPD were identified after analyzing the retention time, exact mass, secondary mass spectrometry fragmentation and other information obtained from HPLC-Q-TOF/MS and comparing them with the established chemical ingredients database and the literatures. The targets of ingredients in QZPD were predicted by Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP) and SwissTargetPrediction database. The disease targets of MPS were obtained through Online Mendelian Inheritance in Man (OMIM) and GeneCards Database. Gene ontology (GO) function enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis of potential targets were analyzed with the Metascape database. Cytoscape 3.7.2 software was used to construct the network of active components-key targets-pathways. AutoDockTools 4.2.5 software was applied in the molecular docking verification between the key active components and key targets. RESULTS: A total of 83 components were identified in QZPD and 847 drug targets were predicted. After intersection them with 3 050 disease targets, 395 common targets were obtained. After network topology analysis, 74 key targets were obtained, involving mitogen-activated protein kinase (MAPK), phosphatidylinositol-3 kinase/protein kinase B (PI3K/Akt), transforming growth factor-β (TGF-β) and other signaling pathways. Molecular docking analysis results indicated that 23 key active components, such as berberine, epiberberine, coptisine, geissoschizine methyl ether, liensinine, norcoclaurine, palmatine, quercetin, and luteolin, had good binding activity with several of the key targets. CONCLUSION: This study preliminarily identifies the potential effective chemical ingredients of QZPD, predicts its targets in the prevention and treatment of MPS, which provides supporting information for the further study of the pharmacodynamic substances and mechanisms of QZPD.

CRISPR-Cas Systems ; Embryo, Mammalian ; Gene Editing ; methods ; HEK293 Cells ; Humans ; Polycomb Repressive Complex 1 ; genetics ; Zygote