1.Sini decoction alleviates inflammation injury after myocardial infarction through regulating arachidonic acid metabolism.
Cuiping LONG ; Qian ZHOU ; Min XU ; Xin DING ; Xingxing ZHANG ; Ya ZHANG ; Yuping TANG ; Guangguo TAN
Chinese Herbal Medicines 2025;17(1):148-155
OBJECTIVE:
Myocardial inflammation during myocardial infarction (MI) could be inhibited by regulating arachidonic acid (AA) metabolism. Recent studies demonstrated that Sini Decoction (SND) was identified to be an effective prescription for treating heart failure (HF) caused by MI. But the anti-inflammatory mechanism of SND remained unclear. The work was designed to investigate the anti-inflammatory mechanism of SND through the AA metabolism pathway in vitro and in vivo experiments.
METHODS:
An inflammatory injury model of H9c2 cells was established by lipopolysaccharide (LPS)-stimulated macrophage-conditioned medium (CM). The MI model was built by the ligation of left anterior descending (LAD) branch of coronary artery in rat. Meanwhile, the rats were divided into five groups: sham group, MI group, MI + Celecoxib group, MI + low-dose SND group (SND-L) and MI + high-dose SND group (SND-H). Cardiac function, histopathological changes and serum cytokines were examined four weeks later. Western blot analysis was conducted to verify the key enzymes levels in the AA metabolic pathway, including phospholipase A2 (PLA2), cyclooxygenases (COXs) and lipoxygenases (LOXs).
RESULTS:
These in vivo results demonstrated that SND could improve the cardiac function and pathological changes of rats with MI, and regulate the key inflammatory molecules in the AA metabolism pathway, including sPLA2, COX-1, COX-2, 5-LOX and 15-LOX. In vitro, SND could decrease the release of pro-inflammatory cytokines including TNF-α and IL-6 and inhibit cell apoptosis in CM-induced H9c2 cells. Moreover, SND could protect H9c2 cells from the damage of CM by regulating nuclear factor kappa-B (NF-κB) signal pathway and the expression of COX-2.
CONCLUSION
SND may be a drug candidate for anti-inflammatory treatment during MI by regulating the multiple targets in the AA metabolism pathway.
2.Predictive value of oxygenation index at intensive care unit admission for 30-day mortality in patients with sepsis.
Chunhua BI ; Manchen ZHU ; Chen NI ; Zongfeng ZHANG ; Zhiling QI ; Huanhuan CHENG ; Zongqiang LI ; Cuiping HAO
Chinese Critical Care Medicine 2025;37(2):111-117
OBJECTIVE:
To investigate the predictive value of oxygenation index (PaO2/FiO2) at intensive care unit (ICU) admission on 30-day mortality in patients with sepsis.
METHODS:
A retrospective study was conducted. Patients with sepsis who were hospitalized in the ICU of the Affiliated Hospital of Jining Medical University from April 2015 to October 2023 were enrolled. The demographic information, comorbidities, sites of infection, vital signs and laboratory test indicators at the time of admission to the ICU, disease severity scores within 24 hours of admission to the ICU, treatment process and prognostic indicators were collected. According to the PaO2/FiO2 at ICU admission, patients were divided into Q1 group (PaO2/FiO2 of 4.1-16.4 cmHg, 1 cmHg ≈ 1.33 kPa), Q2 group (PaO2/FiO2 of 16.5-22.6 cmHg), Q3 group (PaO2/FiO2 of 22.7-32.9 cmHg), and Q4 group (PaO2/FiO2 of 33.0-94.8 cmHg). Differences in the indicators across the four groups were compared. Multifactorial Cox regression analysis was used to assess the relationship between PaO2/FiO2 and 30-day mortality of patients with sepsis. The predictive value of PaO2/FiO2, sequential organ failure assessment (SOFA) and acute physiology and chronic health evaluation II (APACHE II) on 30-day prognosis of patients with sepsis was analyzed by receiver operator characteristic curve (ROC curve).
RESULTS:
A total of 1 711 patients with sepsis were enrolled, including 428 patients in Q1 group, 424 patients in Q2 group, 425 patients in Q3 group, and 434 patients in Q4 group. 622 patients died at 30-day, the overall 30-day mortality was 36.35%. There were statistically significant differences in age, body mass index (BMI), history of smoking, history of alcohol consumption, admission heart rate, respiratory rate, APACHE II score, SOFA score, Glasgow coma score (GCS), site of infection, Combined chronic obstructive pulmonary disease (COPD), blood lactic acid (Lac), prothrombin time (PT), albumin (Alb), total bilirubin (TBil), pH, proportion of mechanical ventilation, duration of mechanical ventilation, proportion of vasoactive medication used, and maximal concentration, length of ICU stay, hospital stay, incidence of acute kidney injury, in-hospital mortality, 30-day mortality among the four groups. Multivariate Cox regression analysis showed that after adjusting for confounding factors, for every 1 cmHg increase in PaO2/FiO2 at ICU admission, the 30-day mortality risk decreased by 2% [hazard ratio (HR) = 0.98, 95% confidence interval (95%CI) was 0.98-0.99, P < 0.001]. The 30-day mortality risk in the Q4 group was reduced compared with the Q1 group by 41% (HR = 0.59, 95%CI was 0.46-0.76, P < 0.001). The fitted curve showed that a curvilinear relationship between PaO2/FiO2 and 30-day mortality after adjustment for confounders. In the inflection point analysis, for every 1 cmHg increase in PaO2/FiO2 at PaO2/FiO2 < 28.55 cmHg, the risk of 30-day death in sepsis patients was reduced by 5% (HR = 0.95, 95%CI was 0.94-0.97, P < 0.001); when PaO2/FiO2 ≥ 28.55 cmHg, there was no statistically significant association between PaO2/FiO2 and the increase in the risk of 30-day death in sepsis (HR = 1.01, 95%CI was 0.99-1.02, P = 0.512). ROC curve analysis showed that the area under the curve (AUC) for the prediction of 30-day mortality by admission PaO2/FiO2 in ICU sepsis patients was 0.650, which was lower than the predictive ability of the SOFA score (AUC = 0.698) and APACHE II score (AUC = 0.723).
CONCLUSION
In patients with sepsis, PaO2/FiO2 at ICU admission is strongly associated with 30-day mortality risk, alerting healthcare professionals to pay attention to patients with low PaO2/FiO2 for timely interventions.
Humans
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Sepsis/mortality*
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Intensive Care Units
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Retrospective Studies
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Prognosis
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Hospital Mortality
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Oxygen
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Male
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Predictive Value of Tests
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Female
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Middle Aged
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Aged
3.Exploring the nursing characteristics and management for patients with high levels of human leukocyte antigen (HLA) - antibodies undergoing different desensitization strategies before allogeneic hematopoietic stem cell transplantation (allo-HSCT)
Danping ZHOU ; Yanting GU ; Yin LU ; Cuiping ZHANG ; Shiyuan ZHOU ; Xiaohong ZHOU ; Xiaming ZHU
Chinese Journal of Blood Transfusion 2025;38(12):1687-1694
Objective: To investigate the efficacy, nursing characteristics, and management of different desensitization strategies before allogeneic hematopoietic stem cell transplantation (allo-HSCT) among patients with high level of human leukocyte antigen (HLA) antibodies. Methods: A retrospective analysis was conducted on 82 patients with high levels of HLA antibodies who underwent allo-HSCT at the First Affiliated Hospital of Soochow University and Suzhou Hopes Hematonosis Hospital between January 2020 to November 2023. Patients were divided into two groups based on the desensitization strategy they received: the anti-CD20 monoclonal antibody combined with therapeutic plasma exchange (TPE) group (n=50) and the anti-CD20 monoclonal antibody combined with Protein A immunoabsorption group (n=32). The differences of efficacy between the desensitization strategies were analyzed. The safety of both desensitization strategies were assessed by close monitoring of adverse events throughout the treatment. The nursing characteristics and interventions specific to these strategies were comprehensively summarized. Results: There were no significant differences in age, gender, and diagnosis between the two groups of patients receiving different desensitization strategies (P>0.05). Following desensitization in the immunoadsorption group, the mean fluorescence intensity (MFI) levels of anti-HLA Class I antibody decreased significantly compared to initial screening (P=0.048), while the decrease in MFI values of anti-HLA Class II antibody was not statistically significant (P=0.173). In the TPE group, the MFI levels for both anti-HLA Class I and II antibodies after desensitization decreased significantly compared to initial screening (P=0.025 and 0.028, respectively). Monitoring of adverse events during desensitization treatment, found that patients in the immunoadsorption group experienced mild decreases in blood pressure during the process, with two patients developing severe hypotension. No allergic reactions occurred, and no damage of liver or kidney function was observed after the immunoadsorption. In the immunoadsorption group, a total of 19 patients underwent sera immunoglobulin assays before and after immunoadsorption. Compared to the initial screening, the immunoglobulin G (IgG) levels significantly decreased after immunoadsorption (P<0.001). In TPE group, 12 patients experienced mild hypotension during the plasma exchange process, but no severe hypotension was observed. One patient developed an allergic reaction. After the TPE treatment, no damage of liver or kidney function was observed, nor any decrease of IgG levels. In terms of safety of intravenous access, neither group experienced severe complications such as catheter-related bloodstream infections or deep vein thrombosis. In the TPE group, catheter occlusion occurred during the process of plasma exchange in 2 patients, while no such incident was observed in the immunoadsorption group. Patients of both groups exhibited anxiety and depression before treatment. After psychological care, the scores for anxiety and depression significantly decreased (P<0.001). Conclusion: Both desensitization strategies significantly decreased the HLA antibodies in highly sensitized patients with high level of HLA antibodies undergoing allo-HSCT. For patients receiving immunoabsorption, nursing care should focus on preventing and managing hypotension and implementing infection-prevention measures due to IgG depletion. In contrast, for those undergoing TPE, vigilant monitoring and prompt management of potential allergic reactions are essential components of nursing practice.
4.Analysis of the current quality of life status and influencing factors of sepsis survivors in intensive care unit
Cuiping HAO ; Qiuhua LI ; Cuicui ZHANG ; Fenfen ZHANG ; Yaqing ZHANG ; Lina ZHU ; Huanhuan CHENG ; Yinghao LI ; Qinghe HU
Chinese Critical Care Medicine 2024;36(1):23-27
Objective:To explore the current situation and influencing factors of quality of life of septic patients in intensive care unit (ICU) after discharge, and to provide theoretical basis for clinical early psychological intervention and continuity of care.Methods:A prospective observational study was conducted. The septic patients who were hospitalized in the department of critical care medicine of the Affiliated Hospital of Jining Medical University and discharged with improvement from January 1 to December 31, 2022 were selected as the research objects. The demographic information, basic diseases, infection site, vital signs at ICU admission, severity scores of the condition within 24 hours after ICU admission, various biochemical indexes, treatment process, and prognostic indexes of all the patients were recorded. All patients were assessed by questionnaire at 3 months of discharge using the 36-item short-form health survey scale (SF-36 scale), the activities of daily living scale (ADL scale), and the Montreal cognitive assessment scale (MoCA scale). Multiple linear regression was used to analyze the factors influencing the quality of life of septic patients after discharge from the hospital.Results:A total of 200 septic patients were discharged with improvement and followed up at 3 months of discharge, of which 150 completed the questionnaire. Of the 150 patients, 57 had sepsis and 93 had septic shock. The total SF-36 scale score of septic patients at 3 months of discharge was 81.4±23.0, and the scores of dimensions were, in descending order, role-emotional (83.4±23.0), mental health (82.9±23.6), bodily pain (82.8±23.3), vitality (81.6±23.2), physical function (81.4±23.5), general health (81.1±23.3), role-physical (79.5±27.0), and social function (78.8±25.2). There was no statistically significant difference in the total SF-36 scale score between the patients with sepsis and septic shock (82.6±22.0 vs. 80.7±23.6, P > 0.05). Incorporating the statistically significant indicators from linear univariate analysis into multiple linear regression analysis, and the results showed that the factors influencing the quality of life of septic patients at 3 months after discharge included ADL scale score at 3 months after discharge [ β= 0.741, 95% confidence interval (95% CI) was 0.606 to 0.791, P < 0.001], length of ICU stay ( β= -0.209, 95% CI was -0.733 to -0.208, P = 0.001), duration of mechanical ventilation ( β= 0.147, 95% CI was 0.122 to 0.978, P = 0.012), total dosage of norepinephrine ( β= -0.111, 95% CI was -0.044 to -0.002, P = 0.028), mean arterial pressure (MAP) at ICU admission ( β= -0.102, 95% CI was -0.203 to -0.007, P = 0.036) and body weight ( β= 0.097, 95% CI was 0.005 to 0.345, P = 0.044). Conclusions:The quality of life of patients with sepsis at 3 months after discharge is at a moderately high level. The influencing factors of the quality of life of patients with sepsis at 3 months after discharge include the ADL scale score at 3 months after discharge, the length of ICU stay, the duration of mechanical ventilation, the total dosage of norepinephrine, MAP at ICU admission and body weight, and healthcare professionals should enhance the treatment and care of the patients during their hospitalization based on the above influencing factors, and pay attention to early psychological intervention and continued care for such patients.
5.Relationship between gratitude and academic burnout in college students
Ping ZHANG ; Cuiping TU ; Lange ZHANG ; Fang FU
Chinese Mental Health Journal 2024;38(1):89-93
Objective:To explore the relationship between gratitude and academic burnout incollege students,as well as the role of psychological well-being and proactive coping in their relationship.Methods:A total of 1 038 college students from 4 universities were selected andassessedwith the Gratitude Scale(GQ-6),Flourishing Scale(FS),Proactive Coping Scale(PCS)and Maslach Burnout Inventory-General Survey(MBI-GS).SPSS macro pro-gram Process and Bootstrap method were used to test the mediating effect.Results:The MBI-GS scores were higher in boys than in girls(P<0.01),and higher in those with left behind experience thanin those without left behind ex-perience(P<0.001).The GQ-6 scores were negatively associated with the MBI-GS scores(β=-0.19,P<0.001).PCS scores played an independent mediating role between GQ-6 scores and MBI-GS scores(Indirect effect=0.05,95%CI=0.02-0.09),while the scores of psychological well-being and proactive coping had a chain mediating effect between gratitude scores and academic burnout scores(Indirect effect=0.06,95%CI=0.03~0.01).Conclusion:It suggests that gratitude is related to academic burnout in college students,and proactive cop-ing plays an independent mediating role,while psychological well-being and proactive coping play a chain media-ting role.
6.The experience of the nursing students upon the hospice care practice: a Meta-synthesis
Yucheng MENG ; Cuiping XU ; Guangya WANG ; Xin ZHANG ; Qiuyue ZHANG
Chinese Journal of Practical Nursing 2024;40(2):149-156
Objective:To systematically evaluate and integrate the qualitative research of nursing students participating in hospice care practice experience, to provide a basis for the better development of hospice care education.Methods:A computer search was conducted on the China national knowledge infrastructure, Chinese Biomedical Literature Database, VIP database, Wanfang Medical Database, Cochrane Library, Embase, Web of Science, and PubMed for qualitative research on nursing students' participation in hospice care practices. The search period was from the establishment of the database to February 2023. The quality of the included literature was evaluated using the qualitative research quality evaluation criteria of the Australian JBI Evidence Based Health Care Center. A aggregative integration method was used for result integration.Results:A total of 16 articles were included, and 46 major research results were extracted and summarized into 9 new categories, forming 4 integrated results: providing hospice care services for patients and their families; emotional experience of nursing dying patients; coping with negative experience and harvesting personal growth; needs and difficulties.Conclusions:Nursing students experience multiple emotional experiences in hospice care practice, and are eager to help and support in various aspects. It is suggested for managers to pay attention to the inner experience and needs of nursing students, improve hospice care education in China, and improve the end-of-life care ability of nursing students.
7.Analysis of imaging signs of giant cell tumor of hand and foot bones
Yaqing DUAN ; Qiujuan ZHANG ; Bo ZHANG ; Cuiping MAO ; Nan ZHANG
Journal of Practical Radiology 2024;40(4):613-616
Objective To investigate the characteristics of imaging signs of giant cell tumor(GCT)of the hand and foot bones.Methods The clinical,X-ray,CT and MRI images of 18 cases of GCT of hand and foot bones diagnosed by pathology were analyzed retrospectively.And compared with 54 cases of long bone GCT imaging manifestations.Results Among the 18 GCT cases of hand and foot bones,there were 8 cases of hand,10 cases of foot,including 12 cases of short tubular bone and 6 cases of tarsal bone.All lesions were dilatant osteolytic bone destruction involving the joint surface,in which the short tubular bone GCT showed central growth,the tumor occupied the entire wide diameter of the bone,the lesion range was long,consistent with the bone axis,easy to invade the surrounding soft tissue,sclerotic edge,bone ridge,lobed and periosteal reaction were rare,and prone to recurrence after surgery.The GCT of tarsal bone and short tubular bone showed eccentric growth,and there was statistical difference(P<0.05).The probability of pathological fracture in GCT of long bone was significantly greater than that of short tubular bone.There was no significant difference between the two groups in swelling growth,involvement of bone end and ethmoid sign of bone cortex.Conclusion Compared with long bone GCT,hand and foot bones are rare occurrence site of GCT,which is more aggressive than long bone GCT and prone to recurrence after surgery.Full attention should be paid to its imaging characteristics to provide more accurate image information for clinical treatment strategies.
8.Construction and validation of a predictive model for early occurrence of lower extremity deep venous thrombosis in ICU patients with sepsis
Zhiling QI ; Detao DING ; Cuihuan WU ; Xiuxia HAN ; Zongqiang LI ; Yan ZHANG ; Qinghe HU ; Cuiping HAO ; Fuguo YANG
Chinese Critical Care Medicine 2024;36(5):471-477
Objective:To investigate the risk factors of lower extremity deep venous thrombosis (LEDVT) in patients with sepsis during hospitalization in intensive care unit (ICU), and to construct a nomogram prediction model of LEDVT in sepsis patients in the ICU based on the critical care scores combined with inflammatory markers, and to validate its effectiveness in early prediction.Methods:726 sepsis patients admitted to the ICU of the Affiliated Hospital of Jining Medical University from January 2015 to December 2021 were retrospectively included as the training set to construct the prediction model. In addition, 213 sepsis patients admitted to the ICU of the Affiliated Hospital of Jining Medical University from January 2022 to June 2023 were retrospectively included as the validation set to verify the performance of the prediction model. Clinical data of patients were collected, such as demographic information, vital signs at the time of admission to the ICU, underlying diseases, past history, various types of scores within 24 hours of admission to the ICU, the first laboratory indexes of admission to the ICU, lower extremity venous ultrasound results, treatment, and prognostic indexes. Lasso regression analysis was used to screen the influencing factors for the occurrence of LEDVT in sepsis patients, and the results of Logistic regression analysis were synthesized to construct a nomogram model. The nomogram model was evaluated by receiver operator characteristic curve (ROC curve), calibration curve, clinical impact curve (CIC) and decision curve analysis (DCA).Results:The incidence of LEDVT after ICU admission was 21.5% (156/726) in the training set of sepsis patients and 21.6% (46/213) in the validation set of sepsis patients. The baseline data of patients in both training and validation sets were comparable. Lasso regression analysis showed that seven independent variables were screened from 67 parameters to be associated with the occurrence of LEDVT in patients with sepsis. Logistic regression analysis showed that the age [odds ratio ( OR) = 1.03, 95% confidence interval (95% CI) was 1.01 to 1.04, P < 0.001], body mass index (BMI: OR = 1.05, 95% CI was 1.01 to 1.09, P = 0.009), venous thromboembolism (VTE) score ( OR = 1.20, 95% CI was 1.11 to 1.29, P < 0.001), activated partial thromboplastin time (APTT: OR = 0.98, 95% CI was 0.97 to 0.99, P = 0.009), D-dimer ( OR = 1.03, 95% CI was 1.01 to 1.04, P < 0.001), skin or soft-tissue infection ( OR = 2.53, 95% CI was 1.29 to 4.98, P = 0.007), and femoral venous cannulation ( OR = 3.72, 95% CI was 2.50 to 5.54, P < 0.001) were the independent influences on the occurrence of LEDVT in patients with sepsis. The nomogram model was constructed by combining the above variables, and the ROC curve analysis showed that the area under the curve (AUC) of the nomogram model for predicting the occurrence of LEDVT in patients with sepsis was 0.793 (95% CI was 0.746 to 0.841), and the AUC in the validation set was 0.844 (95% CI was 0.786 to 0.901). The calibration curve showed that its predicted probability was in good agreement with the actual probabilities were in good agreement, and both CIC and DCA curves suggested a favorable net clinical benefit. Conclusion:The nomogram model based on the critical illness scores combined with inflammatory markers can be used for early prediction of LEDVT in ICU sepsis patients, which helps clinicians to identify the risk factors for LEDVT in sepsis patients earlier, so as to achieve early treatment.
9.3D amide proton transfer weighted imaging combined with diffusion weighted imaging for differentiating benign and malignant bone and soft tissue tumors
Ying LI ; Jingliang CHENG ; Cuiping REN ; Yong ZHANG ; Wenhua ZHANG ; Liangjie LIN
Chinese Journal of Medical Imaging Technology 2024;40(10):1572-1576
Objective To explore the value of 3D amide proton transfer weighted imaging(APTWI),diffusion weighted imaging(DWI)and the combination for differentiating benign and malignant bone and soft tissue tumors.Methods Non-contrast MRI,APTWI and DWI of pelvis or lower extremity were prospectively acquired in 96 patients with bone and soft tissue tumors.MTRasym and ADC maps were obtained based on APTWI and DWI calculation with an offset of 3.5 ppm,respectively,and the maximum asymmetric magnetization transfer rate(MTRasym)(MTRasymmax),the mean MTRasym(MTRasymmean)and the minimum MTRasym(MTRasymmin),as well as the maximum apparent diffusion coefficient(ADC)(ADCmax),the mean ADC(ADCmean)and the minimum ADC(ADCmin)values were measured.The above parameters were compared between benign and malignant tumors.Then receiver operating characteristic curve was drawn,and the area under the curve(AUC)was calculated to evaluate the efficacy of APTWI,DWI and the combination.Results Among 96 patients,there were 41 benign and 55 malignant pelvic or lower limb bone and soft tissue tumors.In benign tumors,MTRasym(3.5 ppm)values,including MTRasymmax.MTRasymmean and MTRasymmin were significantly higher,whereas ADC values including ADCmax,ADCmeanand ADCmin were significantly lower than those in malignant tumors(all P<0.05).AUC of MTRasymmax and ADCmin for differentiating benign and malignant bone and soft tissue tumors was 0.791 and 0.873,respectively,being not statistically different(P=0.122),but both lower than that of their combination(AUC=0.944,P<0.001,P=0.041).Conclusion APTWI combined with DWI had high efficacy for differentiating benign and malignant bone and soft tissue tumors.
10.Clinical and molecular genetic analysis of 18 cases of cerebrotendinous xanthomatosis
Cong TIAN ; Zhifei CHU ; Tongxia ZHANG ; Bing ZHAO ; Xiuhe ZHAO ; Cuiping ZHAO ; Chuanzhu YAN ; Yuying ZHAO
Chinese Journal of Neurology 2024;57(11):1217-1226
Objective:To analyze the clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis (CTX) to increase the awareness of the disease among clinicians.Methods:The clinical data, including the age of onset and diagnosis, clinical manifestations, neuroimaging and neuroelectrophysiology and the genetic data of patients diagnosed with CTX in the Department of Neurology, Qilu Hospital of Shandong University from March 2017 to December 2023 were retrospectively collected and analyzed.Results:A total of 18 patients were enrolled in this study, including 12 males and 6 females.The onset age was 10 (6, 29) years, with a minimum onset age of 3 years and a maximum onset age of 32 years; the period from onset to diagnosis was 19.00 (8.75, 24.25) years, with the shortest being 6 months and the longest being 35 years. Among the 18 patients, 16 patients had symptoms and signs of spastic paralysis, 9 patients had cognitive impairment and peripheral neuropathy, 8 patients had cerebellar ataxia, 3 patients had mental disorders, 3 patients had autonomic nervous dysfunction, and only 2 patients had seizures. Among the non-neurological symptoms, 9 patients had Achilles tendon xanthoma, of whom 1 patient was accompanied by patellar tendon xanthoma; 8 patients had adolescent cataracts, 6 patients had chronic diarrhea since childhood. All patients underwent brain MRI examination, among whom 15 patients had cerebellar dentate nucleus involvement, 10 patients had corticospinal tract involvement and 2 patients had normal brain MRI. Fourteen patients underwent nerve conduction and electromyography examinations, among whom 9 patients presented with multiple peripheral neuropathy characterized by motor or motor sensory demyelination. A total of 17 CYP27A1 gene variants were detected in 18 patients. The c.1420C>T and c.1263+1G>A were the hot-spot mutations in this cohort. Conclusions:Spastic paralysis, cerebellar ataxia, tendon xanthoma and adolescent cataracts are typical manifestations of CTX. The cerebellar dentate nucleus and corticospinal tract are mainly involved on the neuroimaging. It should be noted that some patients lack the typical characteristics mentioned above. The c.1420C>T and c.1263+1G>A are the hot-spot mutations in this cohort.

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