Zhonghua yi xue za zhi最新文献

To summarize the characteristics of urinary system symptoms in 11 patients with neuronal intranuclear inclusion disease (NIID), in order to improve the understanding of the disease. A retrospective analysis was performed on 15 patients with NIID of the First Affiliated Hospital of Zhengzhou University, which were enrolled between January, 2020 and December, 2022. All of them were confirmed by NOTCH2NLC gene and pathology. GGC repeated expansion mutationof NOTCH2NLC gene, the pathogenic gene of NIID, was detected by gene test, and eosinophilic intranuclear inclusions were detected by skin pathological biopsy. 4/15 patients started with urinary symptoms, 11/15 patients with NIID combined with different degrees of urinary system symptoms, manifested as frequent urination, weak urination, incontinence and other neurogenic bladder symptoms, and the serious patients due to long-term urinary retention, secondary ureteral dilation, hydronephrosis, even renal failure, some patients with urinary system symptoms may be earlier than other systems.

Objective: To analyze the treatment-free remission (TFR) outcomes in patients with chronic myeloid leukemia (CML) treated sequentially with nilotinib (NIL) after achieving deep molecular response (DMR) to imatinib (IM). Methods: Retrospectively enrolled 103 CML patients from 6 hematological centers in Henan Province who chose sequential NIL therapy or continued IM therapy after achieving DMR to first-line IM from June 2, 2013 to August 30, 2022. Among them, 42 cases were treated with sequential NIL and 61 cases continued IM therapy. The 42 patients in the sequential NIL group were further divided into 3 subgroups based on the duration of DMR at switching to sequential NIL therapy: Group 1 (17 cases): DMR duration<12 months at switching to sequential NIL therapy; Group 2 (8 cases): DMR duration≥12 months to<24 months at switching to sequential NIL therapy; Group 3 (17 cases): DMR duration≥24 months at switching to sequential NIL therapy. Follow-up ended on January 9, 2024, with a median follow-up of 40 (16, 91) months for the sequential NIL group and 49 (21, 123) months for the continuous IM group. Survival curves were plotted using the Kaplan-Meier method and the log-rank test was performed to compare the TFR rates between groups. Results: There were 19 males and 23 females with a median age [M (Q₁, Q₃)] of 43 (31, 50) years in the sequential NIL group. There were 32 males and 29 females with a median age of 41 (31, 50) years in the continuous IM group. Kaplan-Meier survival curve analysis showed that the TFR rate was higher in the sequential NIL group than in the continuous IM group (88.1% vs 63.9%, P=0.005). The results of subgroup analysis showed that the TFR rates in Group 1, Group 2 and Group 3 were 94.1%, 87.5% and 82.4%, respectively, with no statistically significant differences (all P>0.05).The TFR rate in Group 1 was higher than in the continued IM group (P=0.017), and there were no statistically significant differences in Group 2 and Group 3 compared with the continuous IM group(all P>0.05). Conclusion: Sequential NIL therapy after achieving DMR with IM therapy can improve the TFR rate in CML patients, especially in those with DMR duration<12 months before switching to sequential NIL therapy.

Objective: To explore the feasibility of using the entry point and screw path parameters of sacroiliac (S₂AI) screws inserted under O-arm 3D computer navigation as a reference for freehand screw insertion in patients with degenerative spinal deformities. Methods: A retrospective analysis was conducted on the clinical data of 66 patients with degenerative spinal deformities who received S₂AI screw fixation assisted by the O-arm 3D computer navigation system at Nanjing Drum Tower Hospital Affiliated with Nanjing University Medical School from January 2017 to April 2022. The patients included 6 males and 60 females, with a mean age of (64.3±5.9) years. Preoperatively, the entry point was set as the intersection of 1 mm from the outer and lower edges of the S₁ foramen, adjusted intraoperatively by navigation, and verified postoperatively by full spinal CT scans and 3D reconstructions. Using the S₁ screw entry point as the origin, the position of the bilateral S₂AI screw entry points, tailward angulation (SA), outward angulation (TA), and vertical distance from the entry point to the skin (SD) were measured on postoperative CT 3D images. The accuracy of S₂AI screw placement and any intraoperative and postoperative complications were recorded. Differences in entry point coordinates and screw path parameters between the left and right sides were compared. The intraclass correlation coefficient (ICC) was used to assess intra-observer and inter-observer agreement. Results: The coordinates and screw path parameters for the S₂AI screws placed using the O-arm navigation demonstrated good intra-observer and inter-observer consistency (ICC>0.75). The left entry point was located (8.08±1.39) mm laterally and (24.47±2.20) mm caudally from the S₁ entry point, while the right entry point was (8.09±1.41) mm laterally and (24.40±2.54) mm caudally, with no significant difference between the left and right sides (both P>0.05). The left TA was 46.33°±3.44°, SA was 39.14°±6.12°, and SD was (60.38±13.37) mm; the right TA was 46.37°±3.41°, SA was 39.59°±5.89°, and SD was (60.30±12.24) mm, with no significant differences between the left and right parameters (all P>0.05). There was no significant neurovascular complications intraoperatively or two weeks postoperatively, with a screw insertion accuracy of 97.7% (129/132). Conclusions: In the fixation of the pelvis in degenerative spinal deformities, the use of O-arm navigation-assisted S₂AI screw insertion has a high accuracy rate. It is recommended that for freehand screw insertion, the entry point should be located 24 mm caudally and 8 mm laterally from the outer and lower edges of the superior articular process of S₁, with an TA of approximately 46° and a SA of approximately 39°.

With the continuous development of science and technology, medical science, and bioengineering technology, various neuromodulation techniques, such as electrical, magnetic, acoustic, and optical modalities, are rapidly emerging in the therapeutic regime of psychiatric disorders. How to choose the appropriate noninvasive brain stimulation techniques for different psychiatric disorders and their clinical features is becoming a practical dilemma in clinical setting. In this paper, by describing the complex pathogenesis of psychiatric disorders and the limitations of existing therapeutic approaches on psychiatric disorders, combining with the characteristics of different neuromodulation techniques, we propose a new strategy of combined noninvasive brain stimulation to intervene in psychiatric disorders: high-intensity stimulation modulating the whole brain without inducing epilepsy should be as the basic treatment of psychiatric disorders, applying low-intensity stimulation with the advantage of specific targets/brain regions to modulate the residual symptoms or/and single symptom, and for refractory and acute psychiatric disorders, ECT/MECT is preferred for rapid symptom control; different noninvasive brain stimulation techniques can be combined with pharmacological and psychotherapeutic treatments, which will provide a new idea for the future development of this field.

Objective: To study biological variation (BV) and analytical performance specifications (APS) of 15 erythrocyte and related parameters. Methods: Sixty healthy participants from Beijing Hospital were prospectively recruited for the study, from July to December, 2023, including 30 males [aged (41.3±11.9) years] and 30 females [aged (40.3±12.4) years]. The study was designed based on the Biological Variation Data Critical Appraisal Checklist and the characteristics of erythrocyte detection. Whole blood samples were collected 10 times at 2-week intervals during 20 weeks. All samples were tested in duplicate using Mindray BC-7500 hematology analyzer and its accompanying reagents. Within-subject biological variation (CV_I) and between-subject biological variation (CV_G) were estimated by the nested ANOVA method. The BV data in this study were compared with the BV data of the European Database of Biological Variation. APS, reference change value (RCV) and index of individuality (II) were calculated. Results: The CV_I for 15 parameters ranged from 0.49% to 86.46%, and the CV_I data for red cell distribution width (RDW)-CV, RDW-SD, reticulocyte (RET) percentage, RET count, reticulocyte hemoglobin content (RHE), medium fluorescence reticulocyte (MFR) and high fluorescence reticulocyte (HFR) were significantly higher in females than in males (all P<0.05). The CV_G ranged from 1.27% to 100.79%, and the CV_G data for HFR were significantly different between genders (P<0.05). The CV_I data for red blood cell (RBC), hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC) and RHE in this study were lower than those recommended by the European database. The derived indicators of most parameters were influenced by gender. The II values for all parameters were<1.4, where the II values of MCHC and HFR were between 0.6 and 1.4; the II values for the remaining 13 parameters were<0.6. Conclusions: A BV study protocol for erythrocyte parameters is designed. When the reference intervals differ between genders, BV data should be calculated separately and the lower BV data are recommended for calculating APS; the RCV should be set separately for each gender.

Objective: To analyze the effect of single pigtail bile duct stents without lateral wings bile duct drainage after removal of common bile duct stones in endoscopic retrograde cholangiopancreatography (ERCP). Methods: Patients who underwent ERCP and implantation of a single pigtail bile duct stent for choledocholithiasis in Cholelithic Center of East Hospital Affiliated to Tongji University from January 2019 to September 2023 were retrospectively selected and divided into lateral wingless group (without the lateral wing) and lateral wing group(with the lateral wing) according to whether the lateral wings of the single pigtail bile plastic stents were preserved. The patients were followed up for 1 to 3 months. The stent detachment rate at 2 days, 1 week and 1 month, as well as the incidence of postoperative complications at 1 week and 1 month after ERCP were compared between the two groups. Results: A total of 402 patients were included, including 177 males and 225 females, aged 32-83 (58±12) years. There were 215 cases in the lateral wingless group and 187 cases in the lateral wing group. The stent detachment rate in the lateral wingless group was higher than that in the lateral wing group at 2 days after ERCP [12.6% (27/215) vs 5.9% (11/187), P=0.022]. The stent detachment rate in the lateral wingless was higher than that in the lateral wing group at 1 week after ERCP [87.0% (187/215) vs 25.1% (47/187), P<0.001]. The stent detachment rate in the lateral wing group was higher than that in the lateral wing group at 1 month after ERCP [97.2% (206/215) vs 67.3% (126/187), P<0.001]. The incidence of postoperative complications at 1 week after ERCP revealed no statistical significance between the two groups[(10.7% (23/215) vs 8.6% (16/187), P>0.05]. The incidence of postoperative complications at 1 month after ERCP in the lateral wingless group was lower than that in the lateral wing group [0.9% (2/215) vs 9.6% (18/187), P=0.001]. Conclusion: After the removal of choledocholithiasis with ERCP, bile is drained by a single pigtail bile duct stent with lateral removal, which has a high rate of natural shedding and a low incidence of complications.

To analyze the clinical efficacy and its influencing factors of ustekinumab (UST) in the treatment of patients with Crohn's disease (CD). From January 2021 to January 2024, CD patients who received UST treatment were retrospectively collected from the Second Affiliated Hospital of Wenzhou Medical University. Harvey-Bradshaw index were applied to assess clinical activity of CD patients, C-reactive protein was used to evaluate biochemical remission rate, and simplified Crohn's disease endoscopy score was used to evaluate the degree of intestinal inflammation. Logistic regression model was used to analyze the influencing factors for the clinical response rate at week 8, as well as the clinical remission rate and endoscopic remission rate at week 32. A total of 138 CD patients were included, including 93 males and 45 females. The age of diagnosis [M (Q₁, Q₃)] was 24 (19, 32) years old. At week 8, the clinical response rate and biochemical remission rate was 58.0% and 49.3%, respectively. Multivariate logistic regression model analysis showed that disease behavior (stenosis or penetration) was the risk factor of the clinical response rate at week 8 (OR=0.46, 95%CI: 0.23-0.95). The clinical remission rate and endoscopic remission rate at week 32 were 56.5% and 37.7%, respectively. Multivariate logistic regression model analysis showed that disease behavior (stenosis or penetration) was the risk factor of the clinical remission rates (OR=0.18, 95%CI: 0.08-0.42) and endoscopic remission rates (OR=0.25, 95%CI: 0.11-0.55) at week 32. Failure to achieve clinical response at week 8 was the risk factor of the clinical remission rates (OR=0.21, 95%CI: 0.09-0.52) and endoscopic remission rates (OR=0.19, 95%CI: 0.07-0.50) at week 32. UST treatment has good clinical efficacy in CD patients. CD patients with intestinal stenosis or penetrating lesions can decrease the efficacy of UST treatment. Failure to achieve clinical response at week 8 can decrease the efficacy at week 32.