ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease （AECOPD） with phlegm turbidity obstructing lung syndrome， and to investigate its effects on inflammatory factors， immune function， and the programmed death-1（PD-1）/programmed death-ligand 1 （PD-L1） signaling pathway. MethodsA randomized controlled study was conducted， enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital， Beijing University of Chinese Medicine， from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table， with 45 patients in each group. The control group received conventional Western medical treatment， while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy， COPD Assessment Test （CAT） score， modified Medical Research Council Dyspnea Scale （mMRC）， 6-minute walk test （6MWT）， serum inflammatory factors， T lymphocyte subsets， and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% （33/42） in the control group and 95.35% （41/43） in the observation group， with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant （χ² = 5.136， P<0.05）. After treatment， both groups showed significant reductions in CAT and mMRC scores （P<0.05， P<0.01） and significant increases in 6MWT compared to baseline （P<0.01）. The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein （CRP）， procalcitonin （PCT）， interleukin-6 （IL-6）， tumor necrosis factor-α （TNF-α）， monocyte chemoattractant protein-1（MCP-1）， and macrophage inflammatory protein-1α （MIP-1α） were significantly reduced in both groups （P<0.05， P<0.01）， with greater reductions in the observation group （P<0.05， P<0.01）. CD8⁺ levels were significantly reduced （P<0.01）， while CD3⁺， CD4⁺， and CD4⁺/CD8⁺ levels were significantly increased in both groups after treatment （P<0.05， P<0.01）， with more significant improvements observed in the observation group （P<0.05， P<0.01）. Serum PD-1 levels were reduced （P<0.05， P<0.01）， and PD-L1 levels were increased significantly in both groups after treatment （P<0.05， P<0.01）， with more pronounced changes in the observation group （P<0.05）. ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors， improving immune function， and regulating the PD-1/PD-L1 signaling pathway.

ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease （AECOPD） with phlegm turbidity obstructing lung syndrome， and to investigate its effects on inflammatory factors， immune function， and the programmed death-1（PD-1）/programmed death-ligand 1 （PD-L1） signaling pathway. MethodsA randomized controlled study was conducted， enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital， Beijing University of Chinese Medicine， from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table， with 45 patients in each group. The control group received conventional Western medical treatment， while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy， COPD Assessment Test （CAT） score， modified Medical Research Council Dyspnea Scale （mMRC）， 6-minute walk test （6MWT）， serum inflammatory factors， T lymphocyte subsets， and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% （33/42） in the control group and 95.35% （41/43） in the observation group， with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant （χ² = 5.136， P<0.05）. After treatment， both groups showed significant reductions in CAT and mMRC scores （P<0.05， P<0.01） and significant increases in 6MWT compared to baseline （P<0.01）. The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein （CRP）， procalcitonin （PCT）， interleukin-6 （IL-6）， tumor necrosis factor-α （TNF-α）， monocyte chemoattractant protein-1（MCP-1）， and macrophage inflammatory protein-1α （MIP-1α） were significantly reduced in both groups （P<0.05， P<0.01）， with greater reductions in the observation group （P<0.05， P<0.01）. CD8⁺ levels were significantly reduced （P<0.01）， while CD3⁺， CD4⁺， and CD4⁺/CD8⁺ levels were significantly increased in both groups after treatment （P<0.05， P<0.01）， with more significant improvements observed in the observation group （P<0.05， P<0.01）. Serum PD-1 levels were reduced （P<0.05， P<0.01）， and PD-L1 levels were increased significantly in both groups after treatment （P<0.05， P<0.01）， with more pronounced changes in the observation group （P<0.05）. ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors， improving immune function， and regulating the PD-1/PD-L1 signaling pathway.

OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing

Objective:To compare the efficacy of conventional Western medicine alone and acupuncture combined with acupoint application in treating intestinal dysfunction secondary to mechanical ventilation in elderly patients with emergency sepsis.Methods:A retrospective analysis was performed on 111 elderly patients with mechanical ventilation for sepsis admitted to the emergency department of Dongzhimen Hospital of Beijing University of Chinese Medicine from January 2019 to June 2021. They were divided into two groups according to the time of admission: Western medicine treatment group alone (patients from January 2019 to December 2019, n=47) and acupuncture combined with acupoint application group (patients from January 2020 to June 2021, n=64). Acupuncture combined with acupoint application group was treated with acupuncture combined with acupoint application on the basis of conventional Western medicine. The intestinal dysfunction score, abdominal circumference and mortality after 4 weeks were compared between the two groups. Results:The abdominal circumference and intestinal dysfunction score in acupuncture combined with acupoint application group were significantly lower than those before treatment [(100.56±9.34)cm vs (106.25±9.74)cm; (0.92±0.72)point vs (2.31±0.69)point, all P< 0.05], while there was no significant difference in the above indexes before and after treatment in the Western medicine treatment group (all P>0.05). The abdominal circumference, intestinal dysfunction score and mortality after 4 weeks in the acupuncture combined with acupoint application group were significantly lower than those in the Western medicine treatment group [(100.56±9.34)cm vs (108.09±10.52)cm; (0.92±0.72)point vs (2.43±0.62)point; (29.7%, 19/64) vs (48.9%, 23/47), all P<0.05]. Conclusions:The curative effect of acupuncture combined with acupoint application in the treatment of intestinal dysfunction secondary to mechanical ventilation in elderly patients with sepsis in emergency is better than that of routine treatment of Western medicine alone. The gastrointestinal function and prognosis of patients have been significantly improved, which is worthy of clinical promotion.

Objective:To optimize the preparation technic of Chuanxiong Rhizoma with vacuum steam method, and to investigate the anti-inflammatory and analgesic activity of Chuanxiong Rhizoma decoction pieces with Central Composite Design-Response Surface Method. Methods:Taking the content of ferulic acid as the evaluation index and the moistening temperature, moistening time and vacuum time as the observation indexes, the moistening technic of Chuanxiong Rhizoma was optimized by Response Surface Method, and selected the optimized plan. The anti-inflammatory and analgesic activities of Chuanxiong Rhizoma were investigated by auricle swelling induced by xylene and writhing induced by glacial acetic acid. Results:The optimum vacuum moistening technic was that the softening temperature was 80 ℃, the softening time was 50 min and the vacuum time was 45 min. The content of ferulic acid in Chuanxiong Rhizoma produced by this technic is highand could decreased the times of wrinkle reaction induced by acetic acid in mice, prolonged the latent period, and obviously or partially inhibitied the ear swelling degree induced byxylene in rats. Conclusions:The Response Surface Method technic of Chuanxiong Rhizoma is easy to operate with high accuracy. The vacuum steam treatment was more obvious than traditional technology group. It provides reference for the subsequent production of Chuanxiong Rhizoma decoction pieces and have the certain value for its promotion and application.

Objective To analyze the genotype-phenotype correlation in 5 families with congenital ectopia lentis (CEL) accompanied with cardiovascular abnormal manifestation.Methods Detailed clinical data of 15 family members in 5 families were collected from August 2017 to March 2018 in Zhongshan Ophthalmic Center,including examination of the condition of lens before and after mydriasis by slit-lamp,evaluation of the cardiovascular system using transthoracic echocardiography,and evaluation of the degree of involvement of the subjects' skeletal system using X-ray images.Genomic DNAs were extracted from whole blood sample of the 5 probands and 10 relatives,and screened for FBN1 mutation by targeted exome sequencing.The possible genotype-phenotype correlation was analyzed by reviewing previous literatures into these mutation sites.The study followed the principles of the Helsinki Declaration and written informed consent was obtained from each subject prior to any examination.Results All of the five probands were diagnosed as CEL accompanied with cardiovascular abnormal manifestation.FBN1 gene mutations were identified in all of the five probands,including four missense mutations (c.2741G＞T,c.2585G＞T,c.1633C＞T,c.4260C＞G) and one splicing mutation (c.2114-1G＞C).It was predicted that all of the 5 mutations would alter the protein structure.Conclusions FBN1 gene has a high degree of clinical heterogeneity,and the early detection of ocular phenotypes combined with genetic screening is of great significance in the diagnosis of cardiovascular abnormalities.

Objective To investigate the reasons of failure of burr hole craniotomy with drainage in patients with chronic subdural hematoma (CSDH) and advantages of survived neuroendoscopic surgery. Methods One hundred patients with CSDH, admitted to our hospital from May 2015 to May 2019, were enrolled. All patients were initially treated by burr hole craniotomy with drainage; 15 showed drainage failure and received survived neuroendoscopic hematoma evacuation. The preoperative and postoperative clinical features and treatment efficacy of these 15 patients were analyzed. Results Out of the 15 failed patients, 6 had drainage tube misplacement, and the other 9 showed drainage obstacle with separated hematoma. In 6 with drainage tube misplacement, 2 had drainage tube placed into the brain tissues, 3 had drainage tube located in the subendothelium of the hematoma, and one had drainage tube located outside the hematoma. Fifteen patients underwent neuroendoscopic hematoma resection, and the curative effect was significant. After 6 months of follow-up, the hematoma disappearance. Two patients were left with limb weakness due to catheter injury and brain tissues during the initial operation. Glasgow outcome scale indicated good prognosis in the remaining 13 patients. Conclusions Burr hole craniotomy should be standardized, and the drainage tube should be located in the hematoma cavity and thorough rinse should be performed. Neuroendoscopic hematoma evacuation is an effective remedy for failure of the first drilling and drainage surgery.

Objective To explore the aberrance of brain activity in healthy young adults with apolipoprotein E (APOE) ε2, ε3 and ε4 allele by the method of functional connectivity density(FCD). Method Two hundred and thirteen young healthy adults underwent the 3 T resting-state functional MRI, the neuropsychological tests and genotype testing for ε2, ε3 and ε4 allele. Age-and gender-matched individuals,including 14 subjects with APOE ε2,31 subjects with APOE ε4 and 31 subjects with APOE ε3 were enrolled for final analysis.FCD mapping was used to compare the brain functional connective networks among the three groups.All results were corrected with a Gaussian random field(GRF)(voxel-level of P<0.01 and joint cluster-level of P<0.05). Correlation analysis was performed between abnormal short-and long-range FCD values and neuropsychological scores. Results Compared with APOE ε3 carriers, the short-and long-range FCD values of APOE ε2 carriers were increased in the frontal lobe,particularly in the medial prefrontal lobe(37 voxels,t=3.54),anterior cingulate cortex(36 voxels,t=3.19)and orbital frontal cortex(41 voxels, t=3.72), while APOE ε4 carriers showed decreased short-range FCD in the bilateral cuneus(38 voxels, t=-3.68). Moreover, the long-range FCD values of APOE ε4 group were decreased in right orbital frontal cortex(46 voxels,t=-4.56)and increased in the right inferior parietal lobe(31 voxels,t=3.49)compared with that of APOE ε2 group. No significant correlation was detected with Bonferroni correction. Conclusions The opposite FCD alteration in cuneus and inferior parietal lobe might be the early existence of inhibitory and compensatory mechanism modulated by the ε4 allele in the young age, while the increased FCD in frontal lobe might be the underlying protective mechanism of delaying the onset of Alzheimer's disease.

Objective To analyze prevalence and determinants of medical adhesive-related skin injury (MARSI) in peripherally inserted central catheter implanted patients with lung cancer,to create evidence for improved clinical care.Methods A cross-sectional observational study design was adopted.Skin pictures and electronic medical records of 200 lung cancer patients who visited Shanghai Chest Hospital for PICC between June 2017 and September 2017 were analyzed to calculate prevalence of MARSI and identify related factors.Results The prevalence of MARSI was 31.5％ (63/200),and mechanical trauma accounted for 50.8％ of all cases (32/63).Age,diabetes and anaphylaxis were significantly related to MARSI.Conclusion Analysis of MARSI in PICC implanted patients with lung cancer provided evidence for improved clinical care of such patients.

Objective At present, there is no study on effect of levetiracetam(LEV) on the gray matter structure remodeling in benign epilepsy children with central temporal spikes(BECTS).The purpose of this study was to study the influence of LEV on the gray matter structure in BECTS and to evaluate the mechanism of LEV on the brain structure of BECTS through using voxel-based MRI morphological(VBM) methods.Methods From January 2014 to September 2016, twenty-four BECTS treated with LEV(LEV group), twenty-four drug-na?ve BECTS(untreated group) and twenty-four normal children(normal group) consulted in department of Neurology, Nanjing Children′s Hospital and the Nanjing Military Region, Nanjing General Hospital were continuously included to receive three-dimensional T1-weighted imaging with 3T MRI and the gray matter volume was calculated by VBM.We compared the difference of grey matter volumes of the three groups and analyzed their correlation with epilepsy duration, age of onset and medication time and other clinical index.Results Compared with the normal group, the grey matter volume of bilateral thalamus were decreased, and the volume of bilateral Rolandic areas, anterior insula/frontal operculum/frontal triangle, left supplementary motor area, paracentral lobule, precentral gyrus, superior frontal gyrus and right middle frontal gyrus were increased in the untreated group, but the grey matter volume of the bilateral Rolandic areas, frontal operculum and left supplementary motor area were decreased in the LEV group.Compared with the untreated group, the grey matter volume of bilateral supplementary motor, left paracentral lobule, precentral gyrus, bilateral anterior insula/frontal operculum/frontal triangle, left superior frontal gyrus and right middle frontal gyrus in the LEV group were decreased.The grey matter volume of left anterior insula/frontal operculum areas was negatively correlated with the medication time in LEV group(r=-0.527, P<0.01).Conclusion T The mainly representations of BECTS are thalamic gray matter damage and epileptic-related cortical area irritation structural abnormalities, but the LEV could reshape the epilepsy-related cortical area and the gray matter in the brain area associated with clinical symptoms.