Objective:To observe the effects of electroacupuncture(EA)on gut microbiota and serum inflammatory factors interleukin(IL)-1β and tumor necrosis factor(TNF)-α in Crohn disease(CD)model rats. Methods:Thirty-six Sprague-Dawley rats were randomly divided into a normal control(NC)group with 10 rats and a modeling group with 26 rats.In the modeling group,the CD rat model was prepared with 2,4,6-trinitrobenzene sulfonic acid(TNBS)enema.After successful modeling,the rats were randomly divided into a CD model(CD)group,an EA group,and a Western medicine(WM)group.The NC and CD groups received no treatment;the EA group was treated with EA for 20 min each time,with 7 consecutive days'intervention;the WM group received mesalazine enteric-coated tablet solution by gavage once a day for 7 d.The changes in body mass and disease activity index(DAI)were observed.Serum IL-1β and TNF-α were determined by enzyme-linked immunosorbent assay.Hematoxylin-eosin staining was used to observe the pathological changes of colon tissues,and 16S rDNA sequencing was used to analyze the structural changes of gut microbiota. Results:Compared with the NC group,the body mass of rats in the CD group decreased(P<0.01),and the DAI score increased(P<0.01);the colon tissue structure was disordered,and many inflammatory cells were present;also,IL-1β and TNF-α increased significantly(P<0.01).As a result,the diversity of gut microbiota decreased,and the abundance of some conditional pathogenic bacteria(such as Prevotella)increased,while the abundance of beneficial bacteria(such as Lactobacillus,Rochella,and Spirillum)decreased.After the intervention,compared with the CD group,the body mass of rats in the EA group and WM group increased(P<0.01);the DAI score decreased(P<0.01),the colon tissue structure improved,and the IL-1β and TNF-α levels decreased(P<0.01);the diversity of gut microbiota increased(P<0.05),and the abundance of some conditional pathogenic bacteria decreased while the abundance of beneficial bacteria increased in the EA group;whereas the diversity of gut microbiota in the WM group was not statistically different(P>0.05). Conclusion:EA can reduce the damage of colon mucosa,regulate the imbalance of gut microbiota,and inhibit the serum inflammatory factor IL-1β and TNF-α expression in CD rats.

Objective:To analyze the characteristics and possible influencing factors of cognitive impairment in patients with CSF1R related diseases (CRD), and provide a basis for the diagnosis, evaluation, treatment, and prognosis of CRD.Methods:A retrospective analysis was conducted on CRD patients diagnosed at the Shanghai Sixth People′s Hospital from April 1, 2018 to May 1, 2024. Information such as gender, age of onset, family history, Montreal Cognitive Assessment (MoCA) score, Mini Mental State Examination (MMSE) score, imaging features, and CSF1R gene mutations were collected to analyze the phenotypic characteristics of CRD patients with different cognitive levels. Multiple linear regression was used to identify factors that may be related to CRD cognitive dysfunction.Results:A total of 40 patients were collected, including 22 males and 18 females. 42.5%(17/40) of the patients had a family history, with an onset age of (39.6±7.9)years and an overall median disease duration of 1.25(1.00, 2.00)years. The MMSE score was (17.90±7.89)points and the MoCA score was (15.16±7.76)points. All patients had frontal leukoencephalopathies and no cerebellar involvement. The cognitive impairment of patients was multidimensional, mainly characterized by orientation disorders, structural barriers attention and calculation disorders, visual spatial and executive dysfunction, delayed recall disorders, and language dysfunction. Patients with onset age ≥40 years old had poorer abstract ability. In addition, patients with a positive family history had poorer immediate memory and naming abilities, while those with ventricular dilation had poorer scores in MMSE total score, MoCA total score, orientation, delayed recall ability, and naming ability.Conclusions:CRD patients generally exhibit significant impairment in multiple cognitive domains, mainly characterized by deficits in orientation, structure attention, and computational abilities. Patients with early onset, long course of illness, positive family history, and ventricular enlargement are more likely to experience partial cognitive decline.

Background: and Purpose X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene (GJB1) to extend the phenotypic and genetic description of CMTX1. Methods: Detailed clinical evaluations, sural nerve biopsy, and genetic analysis were applied to patients with CMTX1. Results: We collected 27 patients with CMTX1 with GJB1 mutations from 14 unrelated families. The age at onset (AAO) was 20.9±12.2 years (mean±standard deviation; range, 2–45 years). Walking difficulties, weakness in the legs, and pes cavus were common initial symptoms. Compared with female patients, males tended to have a younger AAO (males vs. females=15.4±9.6 vs. 32.0±8.8 years, p=0.002), a longer disease course (16.8±16.1 vs. 5.5±3.8 years, p=0.034), and more-severe electrophysiological results. Besides peripheral neuropathy, six of the patients had special episodic central nervous system (CNS) evidence from symptoms, signs, and/or reversible white-matter lesions. Neuropathology revealed the loss of large myelinated fibers, increased number of regenerated axon clusters with abnormally thin myelin sheaths, and excessively folded myelin. Genetic analysis identified 14 GJB1 variants, 6 of which were novel. Conclusions These findings expand the phenotypic and genetic spectrum of CMTX1. Although CMTX1 was found to have high phenotypic and CNS involvement variabilities, detailed neurological examinations and nerve conduction studies will provide critical clues for accurate diagnoses. Further exploration of the underlying mechanisms of connexin 32 involvement in neuropathy or CNS dysfunction is warranted to develop promising therapies.

Objective:To summarize and analyze the clinical and genetic characteristics of Chinese patients with adrenomyeloneuropathy (AMN).Methods:Clinical data were collected and analyzed retrospectively on AMN patients who were diagnosed by genetic testing in Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University School of Medicine from May 2008 to August 2022. Clinical characteristics of AMN patients with different types of gene mutations were compared. Loe score was used to evaluate the severity of white matter demyelinating, and the serum levels of very long-chain fatty acids (VLCFA) in patients with or without white matter demyelinating were compared. The motor function of the AMN patients was assessed using the Expanded Disability Status Scale (EDSS), and the association between EDSS scores and the course of disease was analyzed.Results:A total of 23 male patients with onset age of (29.52±9.91) years were included in this study. The first symptom of all patients was abnormal lower extremities, of which 17 patients showed stiffness and weakness in their lower limbs (73.9%, 17/23), and 6 patients showed numbness and pain in both lower limbs (26.1%, 6/23). The occurrence of symptoms was not related to the type of gene mutation. White matter demyelination occurred in 33.3% (7/21) of patients over a disease duration of (7.67±4.46) years. There was no statistically significant difference in serum VLCFA level between the white-matter demyelination group and the non-demyelination group. The EDSS score was positively correlated with the disease duration ( r=0.57, P=0.006). Sixteen ABCD1 gene mutations were found in this study, among which c.5_19delinsTCTCCAGG (p.P2Lfs *12) was reported for the first time. Four probands belonging to different families carried the c.1415_1416del (p.Q472Rfs *83) variant. Conclusions:Lower limb movement disorders and sensory dysfunction are the prominent clinical manifestations in AMN patients, with deterioration of motor function associated with the course of disease. AMN may be converted to cerebral type and VLCFA concentration is not associated with the phenotypic changes. The c.1415_1416del (p.Q472Rfs *83) mutation is a hot spot mutation of the disease.

Objective:To analyze genioglossus (GG) activation responses to the negative pressure of upper airway cavity during awake and different sleep stages in patients with different obstructive sleep apnea (OSA) graduation.Methods:This prospective cohort study started from August 2019 to January 2021, recruited 42 male OSA patients aged from 21 to 59 (38.77±8.42) years. After completing whole night polysomnography (PSG) and upper airway CT, each subject underwent drug-induced sleep with simultaneous monitoring of genioglossal electromyography (GGEMG) and pressure of epiglottis (P epi). Subjects were divided into three groups of mild OSA(7 males), moderate OSA(12 males), and severe OSA(23 males). The differences in upper airway CT measurements, parameters of GGEMG and P epi during awake and induced sleep were compared. Statistical analysis was conducted by SPSS 21.0. Results:There was no significant difference in the GGEMG parameters between the mild and moderate groups. In wakefulness, the peak phasic GGEMG of the severe group was higher than the mild group ( t=1.249, P=0.025), with no statistically difference in the corresponding P epi. In the sleep onset, the GGEMG parameters and P epi in severe group were higher than the other two groups. Linear regression analysis of the maximum GGEMG and maximum P epi at the end of obstructive apnea (OA) in all moderate plus severe patients ( n=35) was shown nonlinear correlation ( r=0.28, P=0.694). The airway length of the glossopharyngeal cavity was linearly correlated with the maximum P epi of OA ( r=0.468, R2=0.219, P=0.005). Conclusions:The individual difference of GG activation in OSA patients is related to the severity of the disease (frequency of respiratory events) and negative pressure stimulation. In moderate and severe OSA patients, GG activity is not in harmony with the corresponding negative pressure stimulation, which may be one of the mechanisms leading to the aggravation of OSA.

Objective:To investigate the clinical and genetic characteristics of patients with late-onset subtypes (adolescent or adult) of Krabbe disease.Methods:The clinical data of 7 patients with Krabbe disease admitted to Shanghai Jiao Tong University Affiliated Sixth People′s Hospital and Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from September 2006 to June 2021 were analyzed and Sanger sequencing of the galactosylceramidase (GALC) gene (NM_000153) and detection of the activity of GALC were conducted. A total of 61 cases of Krabbe disease reported in domestic literature were reviewed and summarized.Results:Among the 7 patients with Krabbe disease, there were 4 males and 3 females. All of them had lower limb weakness or walking difficulty as the initial symptoms, and presented as spastic paraplegia. The symptoms were relatively mild in patients with late onset. There were 4 out of 5 patients undergoing magnetic resonance imaging examination, who showed abnormal signals: 2 had brain atrophy and the remaining 2 had white matter lesions. A total of 5 GALC gene mutations were detected by genetic analysis. Among these, c.1901T>C (p.L634S), c.908C>T(p.S303F) and c.461C>A(p.P154H) are known variants, while c.50_51insTT (p.M17Ifs) and c.1130delT(p.L337X) are novel variants reported for the first time in this paper.Conclusions:Krabbe disease is a rare neurodegenerative disease with phenotypic heterogeneity, which is inherited in an autosomal recessive mode. The severity of clinical manifestations of Krabbe disease is correlated with the age of onset.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Objective:To explore the relationship between medical staff's engagement, perceived organizational support and turnover intention.Methods:In May 2019, 600 medical and nursing staff from a tertiary hospital in Tianjin were selected by random sampling method. The questionnaire survey was conducted by using Gallup Q12 questionnaire, perceived organizational support scale and turnover intention scale. The correlation between engagement, organizational support and turnover intention was analyzed by person correlation analysis and regression analysis, and multivariate stepwise linear analysis was used for multiple factor analysis Return.Results:the total average scores of engagement, sense of organizational support and turnover intention were (2.18±0.56) , (3.48±0.72) and (2.71±0.67) respectively. There was a positive correlation between engagement and perceived organizational support ( r=0.674, P<0.01) , and negatively correlated with turnover intention ( R=-0.416, -0.487, P<0.05) . The factors of turnover intention were engagement and organizational support (F=54.673, 81.558, P<0.01) . Perceived organizational support partially mediated the relationship between engagement and turnover intention ( P<0.01) . Conclusion:The engagement and organizational support of medical staff are related to turnover intention.

Objective:To understand the status quo of nurses' professional mission and explore the influencing factors of nurses' professional mission.Methods:From November to December, 2018, 316 nurses from three tertiary hospitals in Tianjin were selected as the research objects. The occupational mission scale was used to investigate the sense of professional mission, the nursing work environment scale was used for the nursing work environment survey, and the work family conflict scale was used for the work family conflict investigation. Pearson correlation analysis was used to analyze the correlation among nurses' sense of professional mission, nursing work environment and work family conflict; multiple linear regression analysis was used to analyze the influencing factors of nurses' sense of professional mission.Results:The score of professional mission of nurses was (2.90±0.56) . Average monthly income, nursing work environment and work family conflict were the influencing factors of nurses' professional mission ( P<0.05) . The results of hierarchical regression showed that the higher the average monthly income ( β=0.252) , the higher the sense of professional mission of nurses ( R2=0.064) ; after controlling general data, the two dimensions of nursing work environment: Nurses' participation in hospital affairs ( β=0.263) , high-quality nursing service foundation ( β=0.368) , and work family conflict ( β=-0.145) could explain 43.1% of the total variation of professional mission. Conclusion:The sense of professional mission of nurses is above the middle level. Nursing managers should start with the influencing factors such as average monthly income, nursing working environment and work family conflict, so as to stimulate or improve nurses' sense of professional mission.

Objective:To understand the status quo of nurses' professional mission and explore the influencing factors of nurses' professional mission.Methods:From November to December, 2018, 316 nurses from three tertiary hospitals in Tianjin were selected as the research objects. The occupational mission scale was used to investigate the sense of professional mission, the nursing work environment scale was used for the nursing work environment survey, and the work family conflict scale was used for the work family conflict investigation. Pearson correlation analysis was used to analyze the correlation among nurses' sense of professional mission, nursing work environment and work family conflict; multiple linear regression analysis was used to analyze the influencing factors of nurses' sense of professional mission.Results:The score of professional mission of nurses was (2.90±0.56) . Average monthly income, nursing work environment and work family conflict were the influencing factors of nurses' professional mission ( P<0.05) . The results of hierarchical regression showed that the higher the average monthly income ( β=0.252) , the higher the sense of professional mission of nurses ( R2=0.064) ; after controlling general data, the two dimensions of nursing work environment: Nurses' participation in hospital affairs ( β=0.263) , high-quality nursing service foundation ( β=0.368) , and work family conflict ( β=-0.145) could explain 43.1% of the total variation of professional mission. Conclusion:The sense of professional mission of nurses is above the middle level. Nursing managers should start with the influencing factors such as average monthly income, nursing working environment and work family conflict, so as to stimulate or improve nurses' sense of professional mission.