Objectives:To analyze the clinical characteristics of upper cervical vertebrae with dumbbell schwannoma,and to explore its clinical symptoms,imaging features,and treatment plans.Methods:A retro-spective analysis was performed on 14 patients with upper cervical intra-and extraspinal dumbbell-shaped schwannoma admitted to the Spinal Surgery Department of Southern Theater General Hospital from January 2022 to June 2024,including 9 males and 5 females,aged 43.64±11.96 years(25-61 years).According to the location,size,scope of the tumor,and relationship with the surrounding important tissue structure in upper cervical spine,the relevant clinical treatment data were analyzed and the surgical treatment plan was dis-cussed.Cervical X-ray,CT and MRI examinations were regularly performed after surgery to evaluate the con-ditions of complete resection of tumor and recurrence,the stability of the upper cervical spine and whether the internal fixation was loose or broken.The recovery of spinal nerve function and pain improvement were evaluated by the Japanese Orthopaedic Association(JOA)and visual analogue scale(VAS)scores.Results:All the patients underwent complete tumor resection in one stage,and the postoperative JOA score(10.14±1.55 vs 13.86±1.06,P=0.005)and VAS score(2.42±1.29 vs 0.64±0.71,P=0.000)were statistically different from those before surgery.Postoperative tumor histopathology was confirmed as schwannoma in all the 14 patients.The follow-up time was 6 months to 2 years.No recurrence of tumor was found,neurological symptoms were significantly improved,and no upper cervical instability appeared.Conclusions:For patients with intra-and extra-spinal dumbbell-shaped schwannoma in the upper cervical spine,complete resection of the tumor in one stage of posterior approach can be given priority.If the important stable tissue structure of the upper cervical spine is destroyed,upper cervical spine fixation and fusion should be performed to ensure the stabil-ity of upper cervical spine after tumor resection.

The classical latent structure method does not consider the influence of primary and secondary symptoms,syndromes and symptoms in the analysis and modeling of syndromes.In this paper,based on the data of damp-heat in intestine and stomach syndrome involving 1087 diabetic patients,the classical latent structure analysis was used to obtain the quantitative syndrome diagnostic rules.Then,using Constrained Latent Tree Analysis(CLTA),the quantitative syndrome diagnostic rules containing primary and secondary symptoms were obtained as follows,primary symptoms include halitosis(2.3),yellow tongue coating(2),abdominal distension(2.3),greasy tongue coating(2.1),loose stool or loose stool(1.5),red tongue(1.3),smooth pulse(1.4).Secondary symptoms include epigastric distension(1.1).Compared with the traditional latent structure analysis method,the rules established by CLTA are more compatible with the concept of differentiating primary and secondary symptoms and the common practice of TCM.The quantitative syndrome diagnostic rules of damp-heat in intestine and stomach syndrome constructed by the CLTA method have considerable objectivity in the modeling process.The diagnostic rules established were also compatible with the qualitative concept of TCM theory in stratifying primary and secondary symptoms.Finally,the diagnostic rules are obtained by logistic regression analysis,and the accuracy of the three rules is compared.The results show that the rule recognition accuracy obtained by CLTA is the highest.Therefore,the syndrome diagnostic rules of damp-heat in intestine and stomach obtained from the analysis of CLTA are in line with the constraint semantics of primary and secondary diseases and the theory of traditional Chinese medicine.

Objective:To analyze the effect and safety of tirofiban bridging combined with aspirin for anti-platelet therapy in patients with acute cerebral infarction (ACI) beyond the thrombolytic time window.Methods:Sixty patients with ACI treated in Beijing Royal Hospital from January 2021 to September 2022 were retrospectively analyzed. Among them, 30 cases were treated with tirofiban bridging aspirin as the observation group, while 30 cases were treated with aspirin alone as the control group. The total effective rate of clinical treatment, the degree of neurological deficit, the degree of disease outcome and the incidence of adverse reactions were compared between the two groups. The degree of neurological deficit was evaluated using the National Institutes of Health stroke scale (NIHSS), and the degree of disease outcome was evaluated using the modified Rankin scale (mRS).Results:The overall effective rate in the observation group was significantly higher than that in the control group: 93.3% (28/30) vs. 66.7% (20/30), with a statistically significant difference ( χ2 = 10.97, P<0.01). Before treatment, there was no statistically significant difference in NIHSS score between the two groups ( P>0.05). However, after treatment, the NIHSS score in the observation group was significantly lower than that in the control group: (2.83 ± 1.87) scores vs. (4.93 ± 3.05) scores, indicating a significant difference ( t = -3.21, P = 0.002). No significant difference was observed in mRS score between the two groups before treatment( P>0.05). After treatment, the observation group showed significantly lower mRS score compared to the control group: 2.00 (1.00, 2.00) scores vs. 3.00 (2.00, 4.00) scores ( P = 0.006). There was no statistical difference in the incidence of adverse reactions between the observation group and control groups ( P>0.05). Conclusions:Tirofiban bridging aspirin has stronger inhibitory effect on platelet activity than simple application of aspirin for ACI patients with ultra-thrombolytic window, which can rapidly improve the degree of neurological impairment and daily living ability of patients, and the incidence of adverse reactions has not increased significantly.

Objectives:To analyze the clinical characteristics of upper cervical vertebrae with dumbbell schwannoma,and to explore its clinical symptoms,imaging features,and treatment plans.Methods:A retro-spective analysis was performed on 14 patients with upper cervical intra-and extraspinal dumbbell-shaped schwannoma admitted to the Spinal Surgery Department of Southern Theater General Hospital from January 2022 to June 2024,including 9 males and 5 females,aged 43.64±11.96 years(25-61 years).According to the location,size,scope of the tumor,and relationship with the surrounding important tissue structure in upper cervical spine,the relevant clinical treatment data were analyzed and the surgical treatment plan was dis-cussed.Cervical X-ray,CT and MRI examinations were regularly performed after surgery to evaluate the con-ditions of complete resection of tumor and recurrence,the stability of the upper cervical spine and whether the internal fixation was loose or broken.The recovery of spinal nerve function and pain improvement were evaluated by the Japanese Orthopaedic Association(JOA)and visual analogue scale(VAS)scores.Results:All the patients underwent complete tumor resection in one stage,and the postoperative JOA score(10.14±1.55 vs 13.86±1.06,P=0.005)and VAS score(2.42±1.29 vs 0.64±0.71,P=0.000)were statistically different from those before surgery.Postoperative tumor histopathology was confirmed as schwannoma in all the 14 patients.The follow-up time was 6 months to 2 years.No recurrence of tumor was found,neurological symptoms were significantly improved,and no upper cervical instability appeared.Conclusions:For patients with intra-and extra-spinal dumbbell-shaped schwannoma in the upper cervical spine,complete resection of the tumor in one stage of posterior approach can be given priority.If the important stable tissue structure of the upper cervical spine is destroyed,upper cervical spine fixation and fusion should be performed to ensure the stabil-ity of upper cervical spine after tumor resection.

The classical latent structure method does not consider the influence of primary and secondary symptoms,syndromes and symptoms in the analysis and modeling of syndromes.In this paper,based on the data of damp-heat in intestine and stomach syndrome involving 1087 diabetic patients,the classical latent structure analysis was used to obtain the quantitative syndrome diagnostic rules.Then,using Constrained Latent Tree Analysis(CLTA),the quantitative syndrome diagnostic rules containing primary and secondary symptoms were obtained as follows,primary symptoms include halitosis(2.3),yellow tongue coating(2),abdominal distension(2.3),greasy tongue coating(2.1),loose stool or loose stool(1.5),red tongue(1.3),smooth pulse(1.4).Secondary symptoms include epigastric distension(1.1).Compared with the traditional latent structure analysis method,the rules established by CLTA are more compatible with the concept of differentiating primary and secondary symptoms and the common practice of TCM.The quantitative syndrome diagnostic rules of damp-heat in intestine and stomach syndrome constructed by the CLTA method have considerable objectivity in the modeling process.The diagnostic rules established were also compatible with the qualitative concept of TCM theory in stratifying primary and secondary symptoms.Finally,the diagnostic rules are obtained by logistic regression analysis,and the accuracy of the three rules is compared.The results show that the rule recognition accuracy obtained by CLTA is the highest.Therefore,the syndrome diagnostic rules of damp-heat in intestine and stomach obtained from the analysis of CLTA are in line with the constraint semantics of primary and secondary diseases and the theory of traditional Chinese medicine.

Objective:To analyze the effect and safety of tirofiban bridging combined with aspirin for anti-platelet therapy in patients with acute cerebral infarction (ACI) beyond the thrombolytic time window.Methods:Sixty patients with ACI treated in Beijing Royal Hospital from January 2021 to September 2022 were retrospectively analyzed. Among them, 30 cases were treated with tirofiban bridging aspirin as the observation group, while 30 cases were treated with aspirin alone as the control group. The total effective rate of clinical treatment, the degree of neurological deficit, the degree of disease outcome and the incidence of adverse reactions were compared between the two groups. The degree of neurological deficit was evaluated using the National Institutes of Health stroke scale (NIHSS), and the degree of disease outcome was evaluated using the modified Rankin scale (mRS).Results:The overall effective rate in the observation group was significantly higher than that in the control group: 93.3% (28/30) vs. 66.7% (20/30), with a statistically significant difference ( χ2 = 10.97, P<0.01). Before treatment, there was no statistically significant difference in NIHSS score between the two groups ( P>0.05). However, after treatment, the NIHSS score in the observation group was significantly lower than that in the control group: (2.83 ± 1.87) scores vs. (4.93 ± 3.05) scores, indicating a significant difference ( t = -3.21, P = 0.002). No significant difference was observed in mRS score between the two groups before treatment( P>0.05). After treatment, the observation group showed significantly lower mRS score compared to the control group: 2.00 (1.00, 2.00) scores vs. 3.00 (2.00, 4.00) scores ( P = 0.006). There was no statistical difference in the incidence of adverse reactions between the observation group and control groups ( P>0.05). Conclusions:Tirofiban bridging aspirin has stronger inhibitory effect on platelet activity than simple application of aspirin for ACI patients with ultra-thrombolytic window, which can rapidly improve the degree of neurological impairment and daily living ability of patients, and the incidence of adverse reactions has not increased significantly.

BACKGROUND: Rheumatoid arthritis (RA), a chronic systemic autoimmune disease, is characterized by synovitis and progressive damage to the bone and cartilage of the joints, leading to disability and reduced quality of life. This study was a randomized clinical trial comparing the outcomes between withdrawal and dose reduction of tofacitinib in patients with RA who achieved sustained disease control. METHODS: The study was designed as a multicenter, open-label, randomized controlled trial. Eligible patients who were taking tofacitinib (5 mg twice daily) and had achieved sustained RA remission or low disease activity (disease activity score in 28 joints [DAS28] ≤3.2) for at least 3 months were enrolled at six centers in Shanghai, China. Patients were randomly assigned (1:1:1) to one of three treatment groups: continuation of tofacitinib (5 mg twice daily); reduction in tofacitinib dose (5 mg daily); and withdrawal of tofacitinib. Efficacy and safety were assessed up to 6 months. RESULTS: Overall, 122 eligible patients were enrolled, with 41 in the continuation group, 42 in the dose-reduction group, and 39 in the withdrawal group. After 6 months, the percentage of patients with a DAS28-erythrocyte sedimentation rate (ESR) of <3.2 was significantly lower in the withdrawal group than that in the reduction and continuation groups (20.5%, 64.3%, and 95.1%, respectively; P  < 0.0001 for both comparisons). The average flare-free time was 5.8 months for the continuation group, 4.7 months for the dose reduction group, and 2.4 months for the withdrawal group. CONCLUSION: Withdrawal of tofacitinib in patients with RA with stable disease control resulted in a rapid and significant loss of efficacy, while standard or reduced doses of tofacitinib maintained a favorable state. TRIAL REGISTRATION Chictr.org, ChiCTR2000039799.
Humans ; Quality of Life ; China ; Arthritis, Rheumatoid/drug therapy* ; Piperidines/therapeutic use* ; Treatment Outcome ; Antirheumatic Agents/therapeutic use* ; Pyrroles/therapeutic use*

OBJECTIVE: To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions. METHODS: All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA). For 10 couples with recurrent spontaneous abortions but normal CMA results for abortive tissues, non-in vitro fertilization-embryo transfer (IVF-ET) pregnancies and no previous history of live births and no structural abnormalities of the uterus, peripheral venous blood samples were collected. Genomic DNA was subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing and bioinformatics analysis. Multifactorial unconditional logistic regression analysis was carried out to analyze the factors that may affect chromosomal abnormality in spontaneous abortions, such as the age of the couple, number of previous spontaneous abortions, IVF-ET pregnancy and history of live birth. The incidence of chromosomal aneuploidies in spontaneous abortions during the first trimester was compared in young or advanced-aged patients by chi-square test for liner trend. RESULTS: Among the 1 065 spontaneous abortion patients, 570 cases (53.5%) of chromosomal abnormalities were detected in spontaneous abortion tissues, which included 489 cases (45.9%) of chromosomal aneuploidies and 36 cases (3.4%) of pathogenic/likely pathogenic copy number variations (CNVs). Trio-WES results have revealed one homozygote variant and one compound heterozygote variants in two pedigrees, both of which were inherited from the parents. One likely pathogenic variant was detected in the patient from two pedigrees. Multifactorial unconditional Logistic regression analysis suggested that age of patient was an independent risk factor of chromosome abnormalities (OR = 1.122, 95%CI: 1.069-1.177, P < 0.001), the number of previous abortions and IVF-ET pregnancy were independent protective factors for chromosomal abnormalities (OR = 0.791, 0.648; 95%CI: 0.682-0.916, 0.500-0.840; P = 0.002, 0.001), whilst the age of husband and history of live birth were not (P > 0.05). The incidence of aneuploidies in the abortive tissues has decreased with the number of previous spontaneous abortions in young patients (χ² = 18.051, P < 0.001), but was not significantly correlated with the number of previous spontaneous abortions in advanced-aged patients with spontaneous abortions (P > 0.05). CONCLUSION Chromosomal aneuploidy is the main genetic factor for spontaneous abortion, though CNVs and genetic variants may also underlie its genetic etiology. The age of patients, number of previous abortions and IVF-ET pregnancy are closely associated with chromosome abnormalities in abortive tissues.
Pregnancy ; Humans ; Female ; Aged ; Abortion, Spontaneous/genetics* ; DNA Copy Number Variations ; Chromosome Aberrations ; Chromosome Disorders/genetics* ; Aneuploidy ; Abortion, Habitual/genetics*

Objective:To investigate the RHD genotypes of RhD-negative pregnant women and explore the optimum strategy for fetal RHD screening among this population in the region. Methods:This prospective study recruited 33 cases of RhD-negative singleton pregnancies at ≥12 weeks of gestation in Nanjing Drum Tower Hospital from March to November 2021. On the basis of RHD genotyping, quantitative real-time polymerase chain reaction (PCR) was used to amplify the exons 5 and 10 of RHD gene in the circulating cell-free DNA of RhD-negative pregnant women harboring whole RHD gene deletion and RHD-CE(2-9)- D. High-throughput sequencing was performed to detect chr1:25648453 locus from circulating cell-free DNA in plasma of RhD-negative pregnant women harboring RHD 1227A mutation to screen the fetal RhD blood group. Neonatal umbilical cord blood samples were collected for verifying fetal RHD genotyping. Descriptive statistical analysis was used. Results:Whole RHD gene deletion homozygous genotype ( n=20, 60.6%), RHD-CE(2-9) -D/whole RHD gene deletion heterozygous genotype ( n=5, 21.2%), RHD 1227A/whole RHD gene deletion heterozygous genotype ( n=7, 15.2%) and RHD 711delC/whole RHD gene deletion heterozygous genotype ( n=1) were identified in the 33 RhD-negative pregnant women. In the 25 cases with whole RHD gene deletion homozygous genotype or RHD-CE(2-9)- D/whole RHD gene deletion heterozygous genotype, 22 fetuses were RhD-positive and three were RhD-negative based on prenatal screening, which were confirmed by the neonatal serological test results after birth. In the seven cases carrying RHD 1227A/whole RHD gene deletion heterozygous genotype, all fetuses were RhD-positive, which were consistent with the results of serological detection after delivery. The case harboring RHD 711delC/whole RHD gene deletion heterozygous genotype did not receive fetal RHD screening. Conclusions:This study suggests that whole RHD gene deletion homozygous genotype is the most common allele in RhD-negative population in this area, followed by RHD 1227A/whole RHD gene deletion heterozygous genotype and RHD- CE(2-9)- D/whole RHD gene deletion heterozygous genotype. For women with whole RHD gene deletion homozygous genotype, RHD- CE(2-9)- D, or RHD 1227A mutation, fetal RHD screening with quantitative real-time PCR and high-throughput sequencing are important for the management of RhD-negative pregnant women.

Benign distal biliary strictures (BDBS) are fibrous tissue proliferation and biliary stricture caused by long-term stimulation of the affected bile ducts due to non-neoplastic factors such as iatrogenic injury, chronic inflammation, and bile duct stones, which further leads to recurrent cholangitis, obstructive jaundice, and liver impairment. Relieving distal biliary obstruction and maintaining bile duct patency for a long time are the core of the treatment of BDBS. With the continuous innovation of endoscopic retrograde cholangiopancreatography techniques, new techniques such as endoscopic stenosis dilatation, stent implantation, and magnetic compression anastomosis are gradually becoming effective treatment methods for BDBS. This article elaborates on the advances in endoscopic therapy for BDBS, so as to provide a reference for clinical research.