Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

Objective To investigate the clinical and imaging features of adult brain stroke with Wallerian degeneration.Methods The clinical and imaging data of 3 adult patients with post-stroke Wallerian degeneration were retrospectively analyzed,and the literature was reviewed.Results All the three patients had a history of stroke,and the disease recurred several months later.Head MRI examination showed abnormal signals in the pontine,which were consistent with the disfigurement of the pyramidal tract of the primary lesion.Combined with the clinical symptoms of the patients,they were diagnosed as post-stroke Wallerian degeneration.Conclusions Patients with Wallerian degeneration after stroke may show changes in clinical symptoms,and are easily misdiagnosed as cerebral infarction,often with poor prognosis.Clinical awareness of this disease should be improved to avoid misdiagnosis,so as to improve the prognosis of patients and improve the quality of life.

Objective To observe the effects of Banxia Xiexin Decoction on intestinal microbes and 5-HT in ulcerative colitis(UC)model mice induced by drinking sodium dextran sulfate(DSS),and to analyze the mechanism of Banxia Xiexin Decoction in treating UC from the perspective of brain-gut axis.Methods 40 male C57BL6/J mice were randomly divided into control group,model group,positive drug(mesalazine)group and Banxia Xiexin decoction group.All mice except control group were induced by 2.5%DSS solution for 7 days to establish UC model.From the 8th day,mice in the above groups were given intragastric administration of sterilized water,mesalazine aqueous solution and Banxia Xiexin decoction aqueous solution.HE staining was used to observe histopathological changes of colon,ELISA to detect 5-HT content in serum,colon and brain tissues,and 16S rRNA sequencing to further detect the changes of fecal flora in model mice.Results Compared with model group,DAI index of experimental mice model group was significantly decreased after Banxia Xiexin Decoction intervention(P<0.05);IL-2,IL-4 and IFN-γ were significantly recovered(P<0.05).The histopathological score of proximal and distal colon was significantly decreased(P<0.01).Moreover,the peripheral 5-HT level was significantly decreased(P<0.05),but the central had an increasing trend.Results of intestinal flora showed that the relative abundance of Clostridium_sensu_stricto_1,unclassified_p__Firmicutes increased(P<0.05),while Lachnospiraceae_NK4A136_group,Lachnoclostridium,norank_f__Oscillospiraceae and Eubacterium_xylanophilum_group decreased(P<0.05).It was also found that there were significant correlations between intestinal microflora and peripheral and central 5-HT levels.Conclusion Banxia Xiexin Decoction could play a role in treating ulcerative colitis by improving the intestinal microbial composition structure of UC mice to reduce peripheral 5-HT levels and increase central 5-HT levels,thereby improving intestinal inflammatory response and relieving anxiety.

Objective:To analyze the preliminary explorations and practical effects of strengthening the process management of nursing special projects in a tertiary general hospital, so as to explore the refined management strategy of hospital projects and provide reference for improving the management level of the research project.Methods:This article takes a series of refined measures taken by the hospital in the process management of nursing special projects from August 2016 to August 2021 as the research example, including setting up subject directions around key disciplines, setting application conditions at different levels, standardizing selection procedures, strengthening mid-term assessments, strictly controlling final acceptance, establishing integrity files, and promoting the transformation of scientific achievements, etc. and these measures are deeply analyzed and discussed.Results:Through a series of measures, the hospital nursing team has significantly improved in terms of research paper publication, patent authorization, approval of projects above the bureau level, and nursing specialties ranking of Chinese hospital Science and Technology Evaluation Metrics (STEM) in the past six years.Conclusions:By strengthening the process management of nursing special research project, the construction level of nursing disciplines has been significantly improved, and the development of nursing disciplines has been greatly promoted.

Objective: To explore the clinical application value of mixed reality technology in locating perforator vessels and assisting perforator vessel dissection to harvest anterolateral thigh flaps. Methods: Six patients who needed anterolateral thigh flap repair after resection of oral and maxillofacial tumors were recruited from the Department of Oral and Maxillofacial Surgery of Nanchong Central Hospital from January 2020 to January 2021. Before surgery, the CT angiography data of the lower limbs of the patients carrying the calibration points were imported into the data workstation to perform 3D reconstruction of the perforator vessels and surrounding tissues of the thigh, and the reconstruction results were imported into Microsoft HoloLens 2 glasses. During the operation, calibration was performed at the calibration point of the operative area so that the preoperative reconstruction results were superimposed on the operative area through Microsoft HoloLens 2 glasses. The clinical application value of mixed reality technology assisted perforator vessel location and anatomy of anterolateral femoral perforator flap was discussed from six aspects: whether the perforator vessel was reconstructed preoperatively, intraoperative calibration time, whether the actual position of the perforating vessels passing through the fascia lata fulcrum deviated from the preoperative reconstruction result within 1 cm, time required to harvest the flap, and whether the actual route of the perforator vessel was consistent with the reconstruction result, and whether the postoperative flap survived. Results : The position and course of perforating vessels were successfully reconstructed in 6 cases before the operation. The actual course of perforating vessels during the operation was consistent with the reconstruction results. The deviation between the actual position of the perforating points and the preoperative reconstruction results was within 1 cm, which met the requirements of the actual asisting of the anterolateral thigh flap. The average time of flap harvest was (70.50 ± 7.20) min. The average calibration time was (13.33 ± 5.50) min. All flaps survived. Conclusions Mixed reality technology projects the reconstruction results of anterolateral femoral perforator vessels directly into the operative area, which provides a new method for asisting localization and anatomy of anterolateral femoral flap perforator vessels and reduces the possibility of injury to perforator vessels.

The aim of this paper was to investigate the effect of Banxia Xiexin Decoction(BXD) on inflammatory factors and intestinal flora in a dextran sulfate sodium induced ulcerative colitis(DSS-UC) mouse model, and to explore the mechanism of BXD in treating ulcerative colitis from the perspective of flora disorder. Forty C57 BL/6 J mice were randomly divided into control group, model group and BXD group. A 2.5% DSS-induced ulcerative colitis model was established. On the 8 th day, normal saline, normal saline, and BXD were given daily for 14 days. After 14 days, HE staining was used to observe histopathological changes of the colon. Serum inflammatory factor content was detected by ELISA, and the change of intestinal flora in mice feces was detected by 16 S rRNA sequencing technology. Compared with control group, the colonic tissue of mice in model group was damaged seriously, and the contents of IL-6 and TNF-α in serum were significantly increased(P<0.05). Compared with model group, mice in BXD group had less colonic damage, and the contents of IL-6, TNF-α in serum were decreased significantly(P<0.05). After creation, the richness of Patescibacteria was increased significantly at the phylum level(P<0.05). At the same time, the richness of Faecalibaculum(P<0.01), norank_f_Muribaculaceae(P<0.01) were decreased significantly at the genus level, while the richness of Turicibacter(P<0.01), Romboutsia(P<0.01), Clostridium_sensu_stricto_1(P<0.01) were increased significantly. After the intervention with BXD, the content of Patescibacteria was significantly reduced at the phylum level(P<0.05), and the contents of Lactobacillus(P<0.01), Clostri-dium_sensu_stricto_1(P<0.01), Enterorhabdus(P<0.01), Candidatus_Saccharimonas(P<0.05), Eubacterium_fissicatena_group(P<0.05) were decreased significantly at the genus level, while the contents of Dubosiella, Bacteroides and Allobaculum were increased significantly. Therefore, BXD could significantly improve the symptoms of DSS-UC mice. It not only could reduce the contents of IL-6 and TNF-α, but also could reduce the richness of Patescibacteria at the phylum level, and those of Clostridium_sensu_stricto_1, Candidatus_Saccharimonas, Eubacterium_fissicatena_group at the genus level. Inaddition, BXD could increase the richness of Bacteroides and Bifidobacterium. It suggested that BXD could play a role in the treatment of ulcerative colitis partially through reducing inflammatory factors and regulating the structure of the gut microbiota.
Animals ; Colitis ; Colitis, Ulcerative/drug therapy* ; Colon ; Dextran Sulfate/toxicity* ; Disease Models, Animal ; Drugs, Chinese Herbal ; Gastrointestinal Microbiome ; Mice ; Mice, Inbred C57BL ; Sulfates

Objective:To investigate the relationship between the degree of basilar artery stenosis and the short-term prognosis in patients with isolated pontine infarction.Methods:One hundred and thirty-seven patients with isolated pontine infarction within 1 month after symptom onset admitted to our hospital from April 2016 to April 2018 were consecutively included.Based on modified Rankin scale(mRS)socres, patients were divided into the good outcome group(mRS score≤2)and the poor outcome group(mRS score>2). Venous blood samples were taken for biochemical testing on admission or the next day.Baseline National Institutes of Health Stroke Scale(NIHSS)scores and demographic data were recorded and compared between the two groups.The degree of basilar artery stenosis was assessed by magnetic resonance angiography(MRA), and subjects were divided into the non-stenosis, mild stenosis, middle stenosis and severe stenosis subgroups.Results:There were 108 patients in the good outcome group and 29 in the poor outcome group.The baseline NIHSS score(2.71±0.22 vs.7.10±0.59, t=6.99, P<0.01)and total cholesterol[(4.29±0.101)mmol/L vs.(4.76±0.17)mmol/L, t=2.21, P=0.03]were lower in the good outcome group than in the poor outcome group.The proportion of patients without stenosis was higher(76 or 70.4% vs.5 or 17.2%, χ2=26.70, P<0.01)and the proportion of patients with severe stenosis were lower(4 or 3.7% vs.7 or 24.1%, P=0.002)in the good outcome group than in the poor outcome group.Binary logistics regression analysis showed that baseline NIHSS score( OR=1.658, 95% CI: 1.327-2.071, P=0.000)and degree of basilar artery stenosis( OR=2.071, 95% CI: 1.159-3.701, P=0.014)were risk factors for the short-term prognosis. Conclusions:The degree of basilar artery stenosis is a risk factor for the short-term prognosis in patients with isolated pontine infarction, and patients with severer stenosis will have a poorer prognosis.

Objective To investigate the efficacy and safety of domestic bortezomibˉbased chemotherapy for patients with multiple myeloma (MM). Methods The clinical data of 60 MM patients treated with domestic bortezomibˉbased chemotherapy regimen (the observation group) in the First Affiliated Hospital of Zhengzhou University from April 2018 to October 2018 were retrospectively analyzed, which were compared with 112 MM patients treated with original treatment regimen (the control group) at the same hospital from November 2010 to November 2014. According to the disease stage, the patients were divided into newly diagnosed MM (NDMM) group and relapsed refractory MM (RRMM) group, and efficacy and adverse reactions of domestic bortezomib were evaluated. Results The total response rate (ORR) of the observation group was 71.7% (43/60), severe complete response (sCR) + complete response (CR) rate was 16.7% (10/60), very good partial response (VGPR) rate was 18.3% (11/60), and partial response (PR) rate was 36.7% (22/60). The ORR of NDMM group (45 cases) and RRMM group (15 cases) was 82.2% (37/45) and 40.0% (6/15), respectively, and the difference was statistically significant (χ2＝ 9.877, P < 0.05). There was no significant difference between ISS stage Ⅰ+Ⅱ and stage Ⅲ [ORR: 75.7% (28/37) vs. 65.2% (15/23), respectively; χ2＝0.764, P >0.05]. ORR and CR rates in the NDMM group and RRMM group of the observation group and the control group were not statistically different (all P>0.05). In the treatment of bortezomibˉbased chemotherapy, the common adverse reaction was peripheral neuropathy, mostly belonging to grade 1-2. Other side effects included hematocytopenia, gastrointestinal events and herpes zoster, which could be alleviated or restored to normality after supportive treatments. One patient died of pulmonary infection, respiratory failure and septic shock during the intermittent period of chemotherapy. Conclusion ORR of domestic bortezomibˉbased chemotherapy in treatment of the patients with MM is high, and the incidence of adverse reactions shows no significant increase compared with original drugs.

Objective To investigate the correlation between serum uric acid level and short-term outcome of acute isolated pontine infarction. Methods From April 2016 to April 2018, consecutive patients with acute isolated pontine infarction admitted to the Department of Neurology, Kaifeng Central Hospital were enrolled. The baseline clinical data were collected. Fasting venous blood was collected on the day of admission or the morning of the next day for blood biochemical tests. The National Institutes of Health Stroke Scale (NIHSS) was used to assess the severity of neurological deficit. According to the modified Rankin Scale score at discharge or 14 dafter onset, the patients were divided into good outcome group (≤2) and poor outcome group ( > 2 ). Multivariate logistic regression analysis was used to determine the independent risk factors for short-term poor outcome. Results A total of 137 patients were enrolled in the study, 108 (78.8% ) had a good outcome, and 29 (21.2% ) had a poor outcome. The baseline NIHSS score (median [ interquartile range]: 2.5 [1.0-4.0] vs. 8.5 [5.5-10.0 ]; Z= 6.092, P< 0.001 ) and total cholesterol levels (4.290 ± 0.101 mmol/L vs. 4.763 ± 0.171 mmol/L; t=2.214, P=0.028] in the good outcome group were significantly lower than those in the poor outcome group, while serum uric acid level (329.769 ± 8.122μmol/L vs. 257.103 ± 14.290μmol/L; t=4.190, P<0.001) was significantly higher than that in the poor outcome group. Multivariate logistic regression analysis showed that high serum uric acid levels were independently associated with short-term good outcomes in patients with isolated pontine infarction (odds ratio [ OR] 0.377, 95% confidence interval [ CI] 0.203-0.702; P=0.002), while high NIHSS score (OR 1.762, 95% CI 1.375-2.258; P<0.001) and hypertension (OR 5. 353, 95% CI 1.333-21.502; P= 0.018 ) were independently associated with short-term poor outcomes. Conclusion High baseline serum uric acid levels are associated with short-term good outcomes in patients with acute isolated pontine infarction.