Objective The morphological and data characteristics of premature ventricular contraction(PVC)were obtained through dynamic electrocardiogram(DCG),and its correlation with new-onset major adverse cardiovascular events(MACE)was analyzed.Methods A total of 115 patients with PVC admitted to Huzhou First People's Hospital from January 2022 to January 2024 were retrospectively selected and divided into MACE group(n=31)and non-MACE group(n=84)according to the new-onset MACE.Collect the baseline data of patients,as well as DCG data such as the morphological and data characteristics of PVC.Collect the baseline data of patients,as well as DCG data such as the morphological and data characteristics of PVC.Multivariate Logistic regression was used to analyze the influencing factors of new-onset MACE in patients with PVC.The receiver operating characteristic(ROC)curve was drawn to analyze the predictive value of influencing factors for the risk of new-onset MACE in patients with PVC.Results There were statistically significant differences in gender,disease duration,QRS wave duration,PVC origin,PVC load,and Lown classification between two groups of patients(P＜0.05).Multivariate Logistic regression analysis showed that QRS wave duration(OR=1.070),PVC origin(OR=6.840)and PVC load(OR=2.583)were independent risk factors for new-onset MACE in PVC patients(P＜0.05).The ROC curve showed that the area under the curve for predicting new-onset MACE in PVC patients with QRS wave duration,PVC origin,and PVC load were 0.791,0.750,and 0.917 respectively.The predictive value of PVC load was the highest.Conclusion QRS wave duration,PVC origin and PVC load are related to new-onset MACE in PVC patients,and PVC load has a good predictive effect on the risk of new-onset MACE in PVC patients.

Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.

Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.

Objective The morphological and data characteristics of premature ventricular contraction(PVC)were obtained through dynamic electrocardiogram(DCG),and its correlation with new-onset major adverse cardiovascular events(MACE)was analyzed.Methods A total of 115 patients with PVC admitted to Huzhou First People's Hospital from January 2022 to January 2024 were retrospectively selected and divided into MACE group(n=31)and non-MACE group(n=84)according to the new-onset MACE.Collect the baseline data of patients,as well as DCG data such as the morphological and data characteristics of PVC.Collect the baseline data of patients,as well as DCG data such as the morphological and data characteristics of PVC.Multivariate Logistic regression was used to analyze the influencing factors of new-onset MACE in patients with PVC.The receiver operating characteristic(ROC)curve was drawn to analyze the predictive value of influencing factors for the risk of new-onset MACE in patients with PVC.Results There were statistically significant differences in gender,disease duration,QRS wave duration,PVC origin,PVC load,and Lown classification between two groups of patients(P＜0.05).Multivariate Logistic regression analysis showed that QRS wave duration(OR=1.070),PVC origin(OR=6.840)and PVC load(OR=2.583)were independent risk factors for new-onset MACE in PVC patients(P＜0.05).The ROC curve showed that the area under the curve for predicting new-onset MACE in PVC patients with QRS wave duration,PVC origin,and PVC load were 0.791,0.750,and 0.917 respectively.The predictive value of PVC load was the highest.Conclusion QRS wave duration,PVC origin and PVC load are related to new-onset MACE in PVC patients,and PVC load has a good predictive effect on the risk of new-onset MACE in PVC patients.

Objective:To investigate the molecular genetic and clinical characteristics of MEF2D-BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease.Methods:The medical record and experimental examination data of a 18-year-old female MEF2D-BCL9 fusion gene-positive B-ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D-BCL9 fusion gene-positive B-ALL were summarized.Results:This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset.MEF2D-BCL9 fusion gene was detected through RNA-sequencing (RNA-seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022.Conclusions:MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D-BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology.

Objective:To study the clinical features of neonatal hyperthyroidism.Methods:From September 2013 to September 2020, clinical data of neonates with hyperthyroidism admitted to the neonatal intense care unit of our hospital were retrospectively collected and analyzed.Results:A total of 7 neonates were included. The average gestation age was (35.8±2.3) weeks with 5 cases had GA<37 weeks. The median age of diagnostic was 16 d (7~18 d). The common clinical manifestations included tachycardia, irritability, low-grade fever, hyperhidrosis, bulimia, poor weight gain, diarrhea and jaundice. The levels of serum free triiodothyronine (FT 3) and thyroxine (FT 4) were elevated in all 7 cases and thyroid stimulating hormone (TSH) were decreased. The Doppler ultrasound of thyroid gland in two neonates revealed enlarged thyroid gland with abundant blood flow. All 7 mothers had hyperthyroidism with 4 mothers provided the history of hyperthyroidism and the other 3 were also confirmed after their infants were diagnosed. All 7 infants were treated with anti-thyroid drugs (ATD) and 2 were additionally given β-blockers to control heart rate. The median ATD duration was 40 d (7~58 d). 2 cases (both preterm infants) had slight decrease in FT 4 during medication. FT 4 of all 7 cases returned to normal before TSH. Conclusions:Neonatal hyperthyroidism has various and nonspecific clinical manifestations. Early diagnosis and timely treatment are important to prevent short-term and long-term adverse outcomes. Whether their mothers provide definite history of thyroid disorder or not, the thyroid function of the suspected neonates should be carefully monitored.

Objective:To analyze fetal sex chromosome abnormalities in prenatal diagnosis based on amniotic fluid cell culture.Methods:Clinical data of 12 164 pregnant women who underwent amniocentesis in Maternal and Child Health Hospital of Hunan Province from January 2017 to December 2020 were retrospectively analyzed. For those diagnosed with fetal sex chromosome abnormalities, the results of karyotyping and chromosome microarray analysis (CMA) were analyzed and described.Results:(1) Among the 12 164 cases, fetal sex chromosome abnormalities were detected in 387 cases (3.2%), including 351 cases with abnormal sex chromosome karyotype and 36 with sex chromosome microdeletion/microduplication. (2) High-risk patients indicated by non-invasive prenatal test (NIPT) had the highest proportion of sex chromosomes abnormalities (74.2%, 287/387), followed by those with other ultrasound abnormalities (8.5%, 33/387), high risk of Down syndrome screening (7.0%, 27/387), advanced maternal age (4.7%, 18/387), history of adverse pregnant or delivery (3.3%, 13/387), and nuchal translucency thickening or cervical lymphatic hygroma (2.3%, 9/387). (3) Detected chromosome karyotype abnormalities included numerical abnormalities [73.2%(257/351)], mosaicism [18.8(66/351)], and structural abnormalities [8.0%(28/351)], among which, 47,XXY [46.7%(120/257)], 45,X/46,XX[48.5%(32/66)], and X chromosome deletion [39.3%(11/28)] were the most common, respectively. Among 36 sex chromosome microdeletions/microduplications cases, 15(41.7%) were with pathogenic copy number variation (CNV), including 14 cases of X chromosome microdeletion/microduplication; 7(19.4%) with benign CNV, and 14(38.9%) with CNV of unknown clinical significance. The fragment size [ M (min-max)] of the 15 pathogenic CNV was 1.68 Mb(0.37-9.20 Mb). Of the nine cases with microdeletions, seven were found with deletion in the Xp22.31 region. Conclusions:Numerical abnormalities are the most common fetal sex chromosome abnormalities detected from amniotic fluid samples. Others included mosaicism and chromosome structure abnormalities.

OBJECTIVE: To detect fusion gene with pathological significance in a patient with refractory and relapsed acute B cell lymphoblastic leukemia (B-ALL) and to explore its laboratory and clinical characteristics. METHODS: Transcriptome sequencing was used to detect potential fusion transcripts. Other laboratory results and clinical data of the patient were also analyzed. RESULTS: The patient was found to harbor TCF3 exon 17-ZNF384 exon 7 in-frame fusion transcript. The minimal residual disease (MRD) has remained positive after multiple chemotherapy protocols including CD19-, CD22- targeted chimeric antigen receptor T cells immunotherapy. The patient eventually achieved complete remission and sustained MRD negativity after allogeneic hemopoietic stem cell transplantation (allo-HSCT). CONCLUSION Transcriptome sequencing can effectively detect potential fusion genes with clinical significance in leukemia. TCF3-ZNF384 positive B-ALL has unique laboratory and clinical characteristics, may not well respond to chemotherapy and immunotherapy, and is more likely to relapse. Timely allo-HSCT treatment may help such patients to achieve long-term disease-free survival. TCF3-ZNF384 positive B-ALL is not uncommon in pediatric patients but has not been effectively identified.
B-Lymphocytes ; Basic Helix-Loop-Helix Transcription Factors/genetics* ; Child ; Hematopoietic Stem Cell Transplantation ; Humans ; Laboratories ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy* ; Trans-Activators/genetics* ; Transcriptome

Objective:To investigate the incidence, prevalence and disease characteristics of Crohn′s disease (CD) in Zhangjiagang city.Methods:A cross-sectional study was conducted. During the period of January 1st to December 31st, 2017, through a voluntary consultation and the medical records retrieval of 5 hospitals in Zhangjiagang city (the First People′s Hospital of Zhangjiagang, Zhangjiagang Hospital of Traditional Chinese Medicine, Zhangjiagang Aoyang Hospital, Zhangjiagang Jinfeng People′s Hospital and Zhangjiagang Leyu Hospital) , the patients who were the registered residents of Zhangjiagang city and diagnosed as CD were collected and included in the study. The general clinical data and epidemiological data were collected by the questionnaire. The age-standardized prevalence and incidence of CD in Zhangjiagang city in 2017 was calculated. The clinical characteristics were described. The single factor analysis and multivariate Logistic regression analysis were performed to identify the independent influencing factors for delayed diagnosis.Results:A total of 123 CD patients were included and 14 patients were newly diagnosed in 2017. The age-standardized prevalence of CD was 12.08 per 100 000 persons in this city in 2017 and the age-standardized incidence was 1.54 per 100 000 persons. There were 73 male patients and 50 female patients, the ratio of male to female was 1.46∶1. The age at diagnosis was 39 (27, 51) years old. The peak ages of diagnosis were 20 to 29 years old and 40 to 49 years old and there were 27 (21.95%) and 25 (20.33%) patients in the two ages respectively. The duration was 45 (24, 82) months. The disease involved the terminal ileum in 72 patients (58.5%) including 2 (1.6%) in the upper gastrointestinal tract simultaneously, the colon in 28 (22.8%) and the ileocolon in 23 (18.7%) . The non-stricturing non-penetrating type of disease was observed in 71 patients (57.7%) , stricturing type in 42 patients (34.1%) , penetrating type in 10 patients (8.1%) . Twenty-three patients (18.7%) had simultaneous perianal disease. 5-aminosalicylic acid was used in 96 patients (78.0%) and nutritional support therapy was used in 64 patients (52.0%) . Delayed diagnosis occurred in 63 patients (51.2%) , the delayed diagnosis time was 8 (2, 36) months. Multivariate analysis showed that simultaneous perianal disease ( OR = 4.081, 95% CI: 1.159-14.367, P = 0.029) was the independent risk factor of delayed diagnosis, and urban resident ( OR = 0.169, 95% CI: 0.073-0.393, P<0.001) was the independent protection factor. Conclusions:The prevalence and incidence of CD in Zhangjiagang city are relatively high. There are more male CD patients and the distribution of age at diagnosis is bimodal. The terminal ileum is the most common site and non-stricturing non-penetrating type is most common in the city. 5-aminosalicylic acid and nutritional support therapy are the most common treatments. Over a half of the patients present delayed diagnosis. The patients with simultaneous perianal disease have higher risk of delayed diagnosis, while the urban patients have lower risk of delayed diagnosis.

Objective:To investigate the incidence, prevalence and disease characteristics of Crohn′s disease (CD) in Zhangjiagang city.Methods:A cross-sectional study was conducted. During the period of January 1st to December 31st, 2017, through a voluntary consultation and the medical records retrieval of 5 hospitals in Zhangjiagang city (the First People′s Hospital of Zhangjiagang, Zhangjiagang Hospital of Traditional Chinese Medicine, Zhangjiagang Aoyang Hospital, Zhangjiagang Jinfeng People′s Hospital and Zhangjiagang Leyu Hospital) , the patients who were the registered residents of Zhangjiagang city and diagnosed as CD were collected and included in the study. The general clinical data and epidemiological data were collected by the questionnaire. The age-standardized prevalence and incidence of CD in Zhangjiagang city in 2017 was calculated. The clinical characteristics were described. The single factor analysis and multivariate Logistic regression analysis were performed to identify the independent influencing factors for delayed diagnosis.Results:A total of 123 CD patients were included and 14 patients were newly diagnosed in 2017. The age-standardized prevalence of CD was 12.08 per 100 000 persons in this city in 2017 and the age-standardized incidence was 1.54 per 100 000 persons. There were 73 male patients and 50 female patients, the ratio of male to female was 1.46∶1. The age at diagnosis was 39 (27, 51) years old. The peak ages of diagnosis were 20 to 29 years old and 40 to 49 years old and there were 27 (21.95%) and 25 (20.33%) patients in the two ages respectively. The duration was 45 (24, 82) months. The disease involved the terminal ileum in 72 patients (58.5%) including 2 (1.6%) in the upper gastrointestinal tract simultaneously, the colon in 28 (22.8%) and the ileocolon in 23 (18.7%) . The non-stricturing non-penetrating type of disease was observed in 71 patients (57.7%) , stricturing type in 42 patients (34.1%) , penetrating type in 10 patients (8.1%) . Twenty-three patients (18.7%) had simultaneous perianal disease. 5-aminosalicylic acid was used in 96 patients (78.0%) and nutritional support therapy was used in 64 patients (52.0%) . Delayed diagnosis occurred in 63 patients (51.2%) , the delayed diagnosis time was 8 (2, 36) months. Multivariate analysis showed that simultaneous perianal disease ( OR = 4.081, 95% CI: 1.159-14.367, P = 0.029) was the independent risk factor of delayed diagnosis, and urban resident ( OR = 0.169, 95% CI: 0.073-0.393, P<0.001) was the independent protection factor. Conclusions:The prevalence and incidence of CD in Zhangjiagang city are relatively high. There are more male CD patients and the distribution of age at diagnosis is bimodal. The terminal ileum is the most common site and non-stricturing non-penetrating type is most common in the city. 5-aminosalicylic acid and nutritional support therapy are the most common treatments. Over a half of the patients present delayed diagnosis. The patients with simultaneous perianal disease have higher risk of delayed diagnosis, while the urban patients have lower risk of delayed diagnosis.