1.Association of the total burden of cerebral small vessel disease with the level of tumor necrosis factor-α and prognosis in patients with acute ischemic stroke
Journal of Apoplexy and Nervous Diseases 2026;43(1):20-27
Objective To investigate the association of the total burden of cerebral small vessel disease (CSVD) with the level of tumor necrosis factor-α(TNF-α) and prognosis in patients with ischemic stroke (AIS). Methods A total of 120 patients with AIS who were admitted to our hospital from January 2022 to December 2023 were enrolled as subjects, and all patients underwent cranial MRI scanning. Baseline data and TNF-α level were compared between the patients with different total burden scores of CSVD, and the correlation between TNF-α level and CSVD total burden score was analyzed. TNF-α level and CSVD total burden score were compared between the AIS patients with different prognoses to investigate the influence of TNF-α and CSVD total burden score on the short-term prognosis of AIS, as well as their value in predicting the short-term prognosis of AIS. Results There were significant differences in age, the proportion of patients with hyperlipidemia, the proportion of patients with smoking, and the levels of TNF-α and Hcy between the patients with different CSVD total burden scores (P<0.05). The level of TNF-α was positively correlated with the number of lacunar cerebral infarcts, Fazekas score of white matter lesions, and EPV score (r=0.654, 0.775, 0.820, P<0.05), but it had no linear correlation with the number of cerebral microbleeds (r=-0.035,P>0.05). The logistic regression analysis showed that before correction, age, hyperlipidemia, smoking, TNF-α,and Hcy were significantly correlated with lacunar infarction, white matter lesions, EPV severity, cerebral microbleeds,and CSVD total burden score (P<0.05), and after correction, TNF-α was still significantly correlated with lacunar infarction, white matter lesions,cerebral microbleeds, EPV severity, and CSVD total burden scores (P<0.05). There were significant differences in CSVD total burden score and TNF-α between the patients with a good prognosis and those with a poor prognosis(P<0.05).TNF-α combined with CSVD total burden score had the largest area under the receiver operating characteristic curve(AUC) of 0.912 in predicting the short-term prognosis of AIS,which was significantly higher than the AUC of TNF-α or CSVD total burden score used alone(P<0.05). Conclusion The increase in TNF-α level has a certain relationship with CSVD total burden score and short-term prognosis in AIS patients, and the combination of TNF-α level and CSVD total burden score has a relatively high clinical application value in predicting the short-term prognosis of AIS patients.
Prognosis
2.Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene.
Lihuan SHI ; Shan HUANG ; Xing XIE ; Pengkai FAN ; Haili GAO ; Yanna MAO
Chinese Journal of Medical Genetics 2026;43(2):90-95
OBJECTIVE:
To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene.
METHODS:
A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001).
RESULTS:
Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively.
CONCLUSION
The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans
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Male
;
Child
;
Female
;
Leukemia, Myeloid, Acute/drug therapy*
;
Oncogene Proteins, Fusion/genetics*
;
Translocation, Genetic
;
Retrospective Studies
;
RNA-Binding Protein FUS/genetics*
;
Chromosomes, Human, Pair 16/genetics*
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Adolescent
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Child, Preschool
;
Chromosomes, Human, Pair 21/genetics*
;
Prognosis
;
Treatment Outcome
3.Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements.
Yuanyuan WANG ; Shuzhen FU ; Yong SHEN ; Qingxia XU
Chinese Journal of Medical Genetics 2026;43(4):265-272
OBJECTIVE:
To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.
METHODS:
The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).
RESULTS:
Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.
CONCLUSION
The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans
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Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
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Female
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Male
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Myeloid-Lymphoid Leukemia Protein/genetics*
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Histone-Lysine N-Methyltransferase/genetics*
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Adult
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Adolescent
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Chromosomes, Human, Pair 11/genetics*
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Child
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Transcriptional Elongation Factors/genetics*
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Gene Rearrangement
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Oncogene Proteins, Fusion/genetics*
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Retrospective Studies
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Young Adult
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Middle Aged
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Prognosis
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Child, Preschool
;
DNA-Binding Proteins/genetics*
4.Safety and efficacy of remote ischemic conditioning in patients with acute ischemic stroke undergoing mechanical thrombectomy
Journal of Apoplexy and Nervous Diseases 2025;42(9):777-782
Objective To investigate the safety and efficacy of remote ischemic conditioning (RIC) in the treatment of patients with acute ischemic stroke undergoing mechanical thrombectomy. Methods This was a single-center randomized parallel-controlled clinical study. A total of 40 patients with anterior circulation large-vessel occlusive ischemic stroke who were admitted to Baoji High-Tech Hospital within 24 hours after onset and underwent emergency mechanical thrombectomy from July 2023 to July 2024 were enrolled and randomly assigned to the experimental group and the control group at a ratio of 1∶1. The patients in the experimental group received standardized RIC treatment (cuff pressure 200 mmHg), while those in the control group received sham RIC intervention (cuff pressure 60 mmHg), and the course of treatment was 7 days for both groups. The two groups were compared in terms of baseline information, safety assessment indicators (including hemorrhagic transformation, symptomatic intracranial hemorrhage, and adverse events), and efficacy evaluation indicators [including NIHSS score, Barthel index, and mRS score after 7 days of treatment, as well as the proportion of patients with good prognosis (an mRS score of 0-2) and excellent prognosis (an mRS score of 0-1) at follow-up on day 90]. Results A total of 39 patients were finally included in the analysis, with 19 in the experimental group and 20 in the control group. At follow-up on day 90, 3 patients were lost to follow-up, and 18 patients in each group were included in the analysis. There were no significant differences between the two groups in all baseline data (P0.05) except sex (P=0.048). The safety analysis showed that during hospitalization, there were no deaths in either group, and there were no significant differences in hemorrhagic transformation, symptomatic intracranial hemorrhage, and adverse events between the two groups (P0.05). One patient in the control group and 2 patients in the experimental group died at follow-up on day 90, with no significant difference between the two groups(P0.999). The efficacy analysis showed that after 7 days of treatment, there were no significant differences in NIHSS score, Barthel index, and mRS score between the two groups (P0.05). At follow-up on day 90 after surgery, 10 patients in the experimental group and 9 patients in the control group had a good prognosis (55.6% vs 50.0%, P0.99), and 10 patients in the experimental group and 6 patients in the control group had an excellent prognosis (55.6% vs 33.3%, P=0.315). Conclusion RIC has good safety and efficacy in the treatment of patients with acute ischemic stroke after mechanical thrombectomy, with a tendency to improve 90-day functional prognosis.
Prognosis
5.Dual rheumatoid factor and anti-cyclic citrullinated peptide antibody positivity affects the manifestations of rheumatoid arthritis.
Li Huan Angela Marie CHAN ; Khai Pang LEONG ; Justina Wei Lynn TAN ; Xiao GAO ; Wei Qiang SEE ; Ee Tzun KOH
Singapore medical journal 2025;66(9):486-491
INTRODUCTION:
Rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibody (ACPA) are used in the diagnosis and prognostication of rheumatoid arthritis (RA). We wanted to determine the specific contributions of RF and ACPA to the biological nature of RA and whether they act synergistically.
METHODS:
We identified 731 patients from our prospective multi-ethnic RA cohort and categorised them into four groups: ACPA-positive, RF-positive, doubly positive and doubly negative. We compared the demographics, Disease Activity Score-28, Health Assessment Questionnaire score, quality of life using Short Form 36 and the use of prednisolone and disease-modifying antirheumatic drugs (DMARDs) of these patient groups.
RESULTS:
Four hundred and ninety-one patients (67.2%) were ACPA+RF+, 54 (7.4%) were ACPA+RF-, 82 (11.2%) were ACPA-RF+ and 104 (14.2%) were ACPA-RF-. Mean disease duration before the study entry was not different in the four groups. Patients with older age of onset were less likely to be positive for RF and ACPA. Fewer ACPA+RF+ patients were in remission compared to those in the other groups ( P < 0.05). Erythrocyte sedimentation rate (ESR) was higher at study entry in the ACPA+RF+ group (40.4 mm/h vs. 30.6-30.9 mm/h, P < 0.05). Prednisolone and number of DMARDs used were higher in the ACPA+RF+ group compared to the doubly negative group. There were no differences in the functional status and quality of life.
CONCLUSIONS
RA patients who were positive for both ACPA and RF had lower remission rate, higher baseline ESR and required more corticosteroid and DMARD treatment compared to those who were singly positive or doubly negative. Being doubly positive confers a worse outcome to RA patients.
Humans
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Arthritis, Rheumatoid/diagnosis*
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Male
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Female
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Middle Aged
;
Rheumatoid Factor/blood*
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Anti-Citrullinated Protein Antibodies/blood*
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Adult
;
Quality of Life
;
Prospective Studies
;
Antirheumatic Agents/therapeutic use*
;
Aged
;
Peptides, Cyclic/immunology*
;
Prednisolone/therapeutic use*
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Surveys and Questionnaires
;
Severity of Illness Index
;
Prognosis
6.Association between the pattern of carotid artery calcification and the short-term prognosis of patients with acute cerebral infarction
Journal of Apoplexy and Nervous Diseases 2025;42(1):38-41
Objective To investigate the association between the pattern of carotid artery calcification and the prognosis of patients with acute cerebral infarction after 3 months of treatment. Methods A total of 112 patients who were diagnosed with acute ischemic stroke (AIS) in our hospital from March 2021 to September 2022 were enrolled as subjects. CT angiography was performed within 24 hours after admission, and the carotid artery was assessed in terms of calcification pattern (no calcification, intimal calcification, and medial calcification) and calcification load (low and high calcification). After 7 days of treatment, CT reexamination was performed to evaluate hemorrhagic transformation and infarct volume. The patients were followed up for 3 months, and according to the modified Rankin Scale (mRS) score, they were divided into good prognosis group (82 patients with an mRS score of <3 points) and poor prognosis group (30 patients with an mRS score of ≥3 points). Results Compared with the good prognosis group, the poor prognosis group had a significantly higher proportion of patients with an age of ≥70 years, a mean systolic blood pressure of ≥165 mmHg, a fasting blood glucose level of ≥7.5 mmol/L, an NIHSS score of ≥12 on admission, intimal calcification, medial calcification, high calcification, hemorrhagic transformation, and an infarct volume of ≥50 mm3 (P<0.05). The multivariate logistic regression analysis showed that NIHSS score ≥12 on admission, intimal calcification, hemorrhagic transformation, and infarct volume ≥50 mm3 were risk factors for poor prognosis (P<0.05). Conclusion Intimal calcification of the carotid artery may be associated with the poor short-term prognosis of AIS patients, which can be used as a new noninvasive indicator for predicting prognosis.
Prognosis
7.Analysis of influencing factors for early neurological deterioration in isolated basal ganglia lacunar infarction
Journal of Apoplexy and Nervous Diseases 2025;42(1):42-46
摘要
目的 探讨孤立性基底节区腔隙性脑梗死早期神经功能恶化(END)的相关影响因素。方法 连续性收集2020年1月—2023年12月就诊于郑州大学人民医院的孤立性基底节区腔隙性脑梗死患者236例,临床资料完整,根据是否出现END将患者分为END组59例及非END组177例,比较患者一般资料,使用多因素二元Logistic回归分析基底节区腔隙性脑梗死患者发生END的影响因素。结果 急性孤立性基底节区腔隙性脑梗死END发生率为25%(59/236),END组病灶累及内囊后肢患者比例、入院NIHSS评分、HbA1c水平、收缩压、女性均高于非END组,两组比较差异有统计学意义(P<0.05)。多因素二元Logistic回归模型分析显示病灶累及内囊后肢(OR=3.167,95%CI 1.305~7.690,P=0.011)是END发生的独立危险因素,HbA1c水平(OR=6.368,95%CI 1.555~26.075,P=0.010)、入院NIHSS评分(OR=2.019,95%CI 1.236~3.299,P=0.005)、收缩压(OR=1.626,95%CI 1.373~1.926,P<0.001)是END发生的相关危险因素。结论 孤立性基底节区腔隙性脑梗死END发生率较高,与病灶累及内囊后肢、入院NIHSS评分高、HbA1c水平升高、收缩压高相关。
Abstract
Objective To identify influencing factors for early neurological deterioration (END) in isolated basal ganglia lacunar infarction (iBGLI). Methods Clinical data were continuously collected from 236 patients with iBGLI confirmed by magnetic resonance imaging between January 2020 and December 2023. The patients were divided into END group (n=59) and non-ED group (n=177) according to the presence or absence of END. General patient information was compared between the two groups, and factors influencing the occurrence of END in patients with iBGLI were identified by multivariate binary logistic regression. Results The incidence of END in acute iBGLI was 25% (59/236). The percentage of patients with lesions affecting the posterior limb of the internal capsule, admission NIHSS score, HbA1c level, systolic blood pressure, and number of females were significantly higher in the END group than in the non-END group (all P<0.05). Multivariate binary logistic regression showed that lesions affecting the posterior limb of the internal capsule (odds ratio (OR=3.167,95%CI 1.305~7.690,P=0.011) was an independent risk factor for the development of END,whereas HbA1c level(OR=6.368,95%CI 1.555~26.075,P=0.010), admission NIHSS score(OR=2.019,95%CI 1.236~3.299, P=0.005), and systolic blood pressure(OR=1.626,95%CI 1.373~1.926,P<0.001) were associated risk factors for END. Conclusion The higher incidence of END in iBGLI is associated with lesions affecting the posterior limb of the internal capsule, admission NIHSS score, HbA1c level, and systolic blood pressure.
Prognosis
8.Research advances in the application of transcranial magnetic stimulation in functional impairment in stroke
Journal of Apoplexy and Nervous Diseases 2025;42(3):273-278
Stroke is a cerebrovascular disease with high fatality and disability rates, which brings heavy psychological burden along with physical disorder to patients. In recent years, transcranial magnetic stimulation (TMS) has attracted great attention in the research on functional prognosis of stroke patients. TMS can reveal the degree of corticospinal tract injury from a neurophysiological point of view and provide key information for functional recovery, and it is widely used in the rehabilitation treatment of post-stroke dysfunction. This article reviews the basic principle, classification, mechanism of TMS in promoting functional recovery of stroke, as well as its application in rehabilitation treatment, so as to lay a foundation for individualized neurological rehabilitation and improve the long-term prognosis of patients to the largest extent.
Stroke
;
Prognosis
9.Clinical features,recurrence risk,and long-term prognosis of anti-myelin oligodendrocyte glycoprotein-IgG associated disorders: An analysis of 91 cases
Journal of Apoplexy and Nervous Diseases 2025;42(4):341-351
Objective To investigate the clinical features and treatment of anti-myelin oligodendrocyte glycoprotein-IgG associated disorders (MOGAD) and the risk factors for recurrence and poor long-term prognosis. Methods A total of 91 patients who were diagnosed with MOGAD in The First Affiliated Hospital of Zhengzhou University from January 2018 to March 2023 were enrolled,and their clinical features and auxiliary examinations were analyzed,as well as the risk factors for recurrence and long-term prognosis. Results Among the 91 patients,69 experienced the first attack of MOGAD,and there were 39 female patients and 47 children (aged<18 years). The proportion of patients with acute disseminated encephalomyelitis among children was significantly higher than that among adults (42.6% vs 18.2%,P=0.012),while the proportion of patients with transverse myelitis among adults was significantly higher than that among children (29.5% vs 2.1%,P<0.001). The proportion of patients receiving hormones combined with immunoglobulins during hospitalization among children was significantly higher than that among adults (36.2% vs 11.4%,P=0.006),and the children had a significantly better Expanded Disability Status Scale (EDSS) score than the adults at discharge [1(0,1) vs 2(0,4.75),P=0.007]. Visual impairment was an independent risk factor for increased recurrence risk (OR=4.215,95%CI 1.236-14.377,P=0.022). A higher EDSS score at discharge (OR=5.05,95%CI 1.27-20.07,P=0.021) and a higher number of attacks (OR=9.235,95%CI 1.352-63.10,P=0.023) were independent factors for poor long-term prognosis,while a steroid maintenance time of >5 weeks at initial diagnosis (OR=0.001,95%CI 0.00-0.33,P=0.001) was an independent factor for improving long-term prognosis. Conclusion For patients newly diagnosed with MOGAD,especially those with a high EDSS score at discharge and features indicating a high risk of recurrence (such as visual impairment),it is recommended that they receive an appropriate course of steroid maintenance treatment after acute-stage treatment.
Recurrence
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Prognosis
10.Association between beat-to-beat blood pressure variability and prognosis in patients with acute ischemic stroke undergoing mechanical thrombectomy
Journal of Apoplexy and Nervous Diseases 2025;42(6):545-549
Objective To investigate the association between beat-to-beat blood pressure variability(BPV)and prognosis in patients with acute ischemic stroke(AIS)undergoing mechanical thrombectomy(MT). Methods A retrospective study was conducted among 52 AIS patients who underwent MT in Stroke Center of The First Hospital of Jilin University,and beat-to-beat BPV was monitored during hospitalization. The patients were followed up to observe modified Rankin Scale(mRS)score on day 90 after disease onset,and the patients were divided into good prognosis group(mRS≤1)and poor prognosis group(mRS>1). The two groups were compared in terms of beat-to-beat BPV during hospitalization. A multivariate logistic regression analysis was used to investigate the association between beat-to-beat BPV and prognosis. Results Compared with the good prognosis group,the poor prognosis group had significantly higher beat-to-beat successive variation(SV)and average real variability(ARV)of systolic blood pressure(SBP)[SBP-SV: 2.63(1.84,3.48)vs 3.28(2.87,4.08),P=0.032; SBP-ARV: 2.06(1.30,2.55)vs 2.59(2.23,3.53),P=0.006]. After adjustment for confounding factors such as age,sex,risk factors for stroke,and baseline NIHSS score,the multivariate logistic regression analysis showed that beat-to-beat SBP-SV(OR=2.760,95%CI 1.168-6.522,P=0.021)and SBP-ARV(OR=3.916,95%CI 1.278-12.002,P=0.017)were associated with the poor prognosis of patients. Conclusion Beat-to-beat BPV is independently associated with 90-day poor prognosis in AIS patients undergoing MT,and therefore,it can be used as a predictive factor for prognosis.
Prognosis

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