ObjectiveTo evaluate the clinical efficacy of Huayu Tongluo Formula （化瘀通络方， HTF） in patients with mid-stage diabetic kidney disease of blood stasis syndrome and explore its potential mechanisms. MethodsA multi-center， randomized， double-blind， placebo-controlled clinical trial was conducted. Ninety patients of mid-stage diabetic kidney disease of blood stasis syndrome were divided into a control group of 46 cases and a treatment group of 44 cases. Both groups received conventional western medicine treatment， the treatment group additionally taking HTF， while the control group taking a placebo of the formula. The treatment was administered once daily for 24 weeks. The primary outcomes included 24-hour urine total protein （24 h-UTP）， serum albumin （Alb）， glycated hemoglobin （HbA1c）， and serum creatinine （Scr）.The secondary outcomes included changes in levels of endothelin-1 （ET-1）， nitric oxide （NO）， vascular endothelial growth factor （VEGF）， and traditional Chinese medicine （TCM） syndrome scores before and after treatment. Clinical efficacy was evaluated based on TCM syndrome scores and overall disease outcomes. Adverse reactions and endpoint events were recorded. ResultsIn the treatment group after treatment， 24 h-UTP， ET-1， and VEGF levels significantly decreased （P＜0.05）， Alb and NO levels significantly increased （P＜0.05）； while the TCM syndrome scores for edema， lumbar pain， numbness of limbs， dark purple lips， dark purple tongue or purpura， and thin， rough pulse all significantly decreased （P＜0.05）. In the control group， no significant changes were observed in any of the indicators after treatment （P＞0.05）.Compared with the control group， the treatment group showed significant reductions in 24 h-UTP， ET-1， and VEGF levels， and increases in Alb and NO levels （P＜0.05）. The TCM syndrome scores for edema， lumbar pain， dark purple tongue or purpura， and thin， rough pulse were all lower in the treatment group than in the control group （P＜0.05）. The total effective rate of TCM syndrome in the treatment group was 59.09% （26/44）， and the overall clinical effective rate was 45.45% （20/44）. In the control group， these rates were 15.22% （7/46） and 8.7% （4/46）， respectively， with the treatment group showing significantly better outcomes （P＜0.05）. A total of 7 adverse events occurred across both groups， with no significant difference （P＞0.05）. No endpoint events occurred during the study. ConclusionOn the basis of conventional treatment of Western medicine， HTF can further reduce urinary protein levels and improve clinical symptoms in patients with mid-stage diabetic kidney disease of blood stasis syndrome. The mechanism may be related to its effects on endothelial function.

Objective:To summarize domestic and foreign transitional readiness assessment tools for adolescents with chronic diseases and analyze the current status of their application in the clinic, so as to provide references for healthcare professionals to select appropriate tools.Methods:China National Knowledge Infrastructure, Wanfang Data, VIP and China Biomedical Literature Database, PubMed, Web of Science, Embase, Medline, CINAHL, Cochrane Library and scholar.google.com were searched for literature related to the assessment tools of transition readiness in adolescents with chronic illnesses from inception to March 29, 2024. Two researchers independently screened the literature and extracted the data.Results:A total of 491 articles were initially retrieved and 24 were included, involving a total of 8 transitional readiness assessment tools for adolescents with chronic diseases, including the Transition Readiness Assessment questionnaire, the University of North Carolina TRxANSITION Scale, Am I ON TRAC for adult care? Questionnaire, Transition Questionnaire, Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire, Good 2 Go Questionnaire, State Assessment Questionnaire for Transition, and Self-assessment Scale of Transition Readiness for Adolescents. The Transition Readiness Assessment questionnaire and Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire have good reliability and validity, comprehensive evaluation, wide applicability, simple use, and are suitable for clinical use.Conclusions:The quality of existing tools for assessing transitional readiness of adolescents with chronic diseases is mixed. The Transition Readiness Assessment questionnaire and Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire are more appropriate options in the clinic, but they still need to be improved. Future studies need to continue to introduce tools to assess transitional readiness for chronic diseases in adolescents and develop localized assessment tools.

Objective:To compare the anterior long-segment fixation, posterior long-segment fixation, and combined anterior-posterior fixation in the treatment of ankylosing spondylitis with cervical fracture (ASCF).Methods:A retrospective study was conducted to analyze the 153 patients with ASCF who had been treated at Department of Orthopaedics, Peking University Third Hospital and Department of Orthopedics, Luoche Central Hospital between January 2014 and December 2023. The cohort included 86 males and 67 females, with an age of (41.6±11.5) years, a disease duration of (10.0±3.9) years, and an interval from injury to surgery of (3.3±1.4) d. By Frankel's classification for preoperative nerve injury, 57 cases were grade B, 51 grade C, and 45 grade D. Based on the surgical approaches, the patients were divided into 3 groups: an anterior group ( n=63) undergoing the anterior cervical long-segment fixation, a posterior group ( n=51) undergoing the posterior cervical long-segment fixation, and a combination group ( n=39) undergoing combined anterior-posterior cervical fixation. Surgical time, intraoperative blood loss, fracture healing, complications, and changes in Frankel grading for spinal cord injury were compared among the 3 groups. Results:There was no statistically significant difference in the preoperative general data among the 3 groups, indicating comparability ( P > 0.05). All patients were followed up for (33.5±12.0) months after surgery. In the anterior group, the surgical time [(103.0±16.8) min] was significantly shorter than that in the posterior group [(148.4±17.7) min] and that in the combination group [(228.5±23.9) min], the intraoperative blood loss [(92.8±27.8) mL] was significantly less than that in the posterior group [(477.5±109.5) mL] and that in the combination group [(769.5±136.9) mL], and the incidence of complications [9.5% (6/63)] was significantly lower than that in the posterior group [41.2% (21/51)] and that in the combination group [53.8% (21/39)] (all P<0.05). There was no statistically significant difference in the fracture healing time among the 3 groups ( P=0.111). At the last follow-up, X-ray and CT scans showed no loosening or breakage of internal fixation in all the 3 groups. The Frankel grading at the last follow-up: 12 cases of grade C, 15 cases of grade D, and 36 cases of grade E in the anterior group; 3 cases of grade B, 12 cases of grade C, 12 cases of grade D, and 24 cases of grade E in the posterior group; 6 cases of grade C, 12 cases of grade D, and 21 cases of grade E in the combination group. At the last follow-up, all patients showed a significant improvement compared to their Frankel grades before surgery ( P<0.001), but there was no statistically significant difference between the 3 groups ( H=2.238, P=0.327). Conclusions:In the treatment of ASCF, anterior long-segment fixation is advantageous over posterior long-segment fixation and combined anteri-or-posterior fixation due to its shorter surgical time, reduced intraoperative blood loss, and a lower complication incidence. All the 3 surgical approaches demonstrate comparable outcomes in terms of fracture healing time, radiographic stability, and final neurological recovery.

Objective:To summarize domestic and foreign transitional readiness assessment tools for adolescents with chronic diseases and analyze the current status of their application in the clinic, so as to provide references for healthcare professionals to select appropriate tools.Methods:China National Knowledge Infrastructure, Wanfang Data, VIP and China Biomedical Literature Database, PubMed, Web of Science, Embase, Medline, CINAHL, Cochrane Library and scholar.google.com were searched for literature related to the assessment tools of transition readiness in adolescents with chronic illnesses from inception to March 29, 2024. Two researchers independently screened the literature and extracted the data.Results:A total of 491 articles were initially retrieved and 24 were included, involving a total of 8 transitional readiness assessment tools for adolescents with chronic diseases, including the Transition Readiness Assessment questionnaire, the University of North Carolina TRxANSITION Scale, Am I ON TRAC for adult care? Questionnaire, Transition Questionnaire, Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire, Good 2 Go Questionnaire, State Assessment Questionnaire for Transition, and Self-assessment Scale of Transition Readiness for Adolescents. The Transition Readiness Assessment questionnaire and Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire have good reliability and validity, comprehensive evaluation, wide applicability, simple use, and are suitable for clinical use.Conclusions:The quality of existing tools for assessing transitional readiness of adolescents with chronic diseases is mixed. The Transition Readiness Assessment questionnaire and Self-Management and Transition to Adulthood with Rx=Treatment Questionnaire are more appropriate options in the clinic, but they still need to be improved. Future studies need to continue to introduce tools to assess transitional readiness for chronic diseases in adolescents and develop localized assessment tools.

Objective:To compare the anterior long-segment fixation, posterior long-segment fixation, and combined anterior-posterior fixation in the treatment of ankylosing spondylitis with cervical fracture (ASCF).Methods:A retrospective study was conducted to analyze the 153 patients with ASCF who had been treated at Department of Orthopaedics, Peking University Third Hospital and Department of Orthopedics, Luoche Central Hospital between January 2014 and December 2023. The cohort included 86 males and 67 females, with an age of (41.6±11.5) years, a disease duration of (10.0±3.9) years, and an interval from injury to surgery of (3.3±1.4) d. By Frankel's classification for preoperative nerve injury, 57 cases were grade B, 51 grade C, and 45 grade D. Based on the surgical approaches, the patients were divided into 3 groups: an anterior group ( n=63) undergoing the anterior cervical long-segment fixation, a posterior group ( n=51) undergoing the posterior cervical long-segment fixation, and a combination group ( n=39) undergoing combined anterior-posterior cervical fixation. Surgical time, intraoperative blood loss, fracture healing, complications, and changes in Frankel grading for spinal cord injury were compared among the 3 groups. Results:There was no statistically significant difference in the preoperative general data among the 3 groups, indicating comparability ( P > 0.05). All patients were followed up for (33.5±12.0) months after surgery. In the anterior group, the surgical time [(103.0±16.8) min] was significantly shorter than that in the posterior group [(148.4±17.7) min] and that in the combination group [(228.5±23.9) min], the intraoperative blood loss [(92.8±27.8) mL] was significantly less than that in the posterior group [(477.5±109.5) mL] and that in the combination group [(769.5±136.9) mL], and the incidence of complications [9.5% (6/63)] was significantly lower than that in the posterior group [41.2% (21/51)] and that in the combination group [53.8% (21/39)] (all P<0.05). There was no statistically significant difference in the fracture healing time among the 3 groups ( P=0.111). At the last follow-up, X-ray and CT scans showed no loosening or breakage of internal fixation in all the 3 groups. The Frankel grading at the last follow-up: 12 cases of grade C, 15 cases of grade D, and 36 cases of grade E in the anterior group; 3 cases of grade B, 12 cases of grade C, 12 cases of grade D, and 24 cases of grade E in the posterior group; 6 cases of grade C, 12 cases of grade D, and 21 cases of grade E in the combination group. At the last follow-up, all patients showed a significant improvement compared to their Frankel grades before surgery ( P<0.001), but there was no statistically significant difference between the 3 groups ( H=2.238, P=0.327). Conclusions:In the treatment of ASCF, anterior long-segment fixation is advantageous over posterior long-segment fixation and combined anteri-or-posterior fixation due to its shorter surgical time, reduced intraoperative blood loss, and a lower complication incidence. All the 3 surgical approaches demonstrate comparable outcomes in terms of fracture healing time, radiographic stability, and final neurological recovery.

Objective:To investigate the impact of the interval period between biopsy and MR examination on tumor detection and extraprostatic extension (EPE) assessment for prostate cancer (PCa) using multi-parametric MRI (mpMRI).Methods:The study was cross-sectional and retrospectively included 130 patients with PCa who underwent RP and preoperative systematic biopsies followed by mpMRI between January 2021 and December 2022 in the First Medical Center of Chinese PLA General Hospital. Patients were divided into 3 groups according to interval following biopsy (group A,<3 weeks, 31 cases; group B, 3-6 weeks, 67 cases; group C,>6 weeks, 32 cases). The percentages of hemorrhage volume in the total prostate were drawn on T 1WI and calculated. The junior, senior and expert radiologists independently localized the index lesions and calculated the accuracy for tumor detection, in addition to assessing the probabilities of EPE according to EPE grade. The correlation between the hemorrhage extent and interval was analyzed using the Spearman correlation coefficient. The accuracy for tumor detection was compared using χ2 test among groups. The diagnostic performance of the radiologists for EPE prediction was assessed using the receiver operating characteristic curve, and the differences between the corresponding area under the curve (AUC) were compared using the DeLong test. Results:The percentage of hemorrhage was correlated with the interval between biopsy and MR examination ( r=-0.325, P<0.001). The detection accuracy of junior radiologist was 83.9% (26/31), 76.1% (51/67), and 78.1% (25/32) in group A, B and C, respectively; no differences were observed in the detection accuracy among three groups ( χ2=0.76, P=0.685). The detection accuracy of senior radiologist was 83.9% (26/31), 80.6% (54/67), and 71.9% (23/32) in 3 groups with no differences ( χ2=1.53, P=0.464). The detection accuracy of expert radiologist was 80.6% (25/31), 77.6% (52/67), and 93.8% (30/32) with no differences ( χ2=3.95, P=0.139). The AUC (95% CI) for predicting EPE were 0.830 (0.652-0.940), 0.704 (0.580-0.809), 0.800 (0.621-0.920) in the group A, B and C for junior radiologist; 0.876 (0.708-0.966), 0.768 (0.659-0.863), 0.896 (0.736-0.975) for senior radiologist; and 0.866 (0.695-0.961), 0.813 (0.699-0.895), 0.852 (0.682-0.952) for expert radiologist, respectively. No differences were observed among the subgroups in each radiologist ( P>0.05). Conclusion:The interval period does not significantly affect the detection accuracy and EPE assessment of PCa using mpMRI. There is probably no necessity for prolonged intervals following systematic biopsy to preserve the clarity of MRI interpretation for PCa.

Objective:To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA). Methods:Two male children with complicated SMA diagnosed at the Children′s Hospital Affiliated to Capital Institute of Pediatrics respectively in July 2021 and April 2022 due to delayed or retrograde motor development were selected as the study subjects. Clinical data of the children were collected. Primary culture of skin fibroblasts was carried out, and peripheral blood samples were collected from both children and their parents. Multiplex ligation-dependent probe amplification, combined long-range PCR and nested PCR, and Sanger sequencing were carried out to detect the copy number and variants of the SMN1 gene. Absolute quantitative real-time PCR, Western blotting and immunofluorescence were used to determine the transcriptional level of the SMN gene, expression of the SMN protein, and the number of functional SMN protein complexes (gems body), respectively. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Capital Institute of Pediatrics (Ethics No. SHERLLM2021009). Results:Child 1, a 1-year-old boy, was clinically diagnosed with type 1 SMA. Child 2, a 2-and-a-half-year-old boy, was clinically diagnosed with type 3 SMA. Both children were found to harbor a paternally derived SMN1 deletion and a maternally derived SMN1 gene variant, namely c. 824G>T (p.Gly275Val) and c. 884A>T (p.*295Leu). Compared with the normal controls and carriers, the levels of full-length SMN1 transcripts in their peripheral blood and skin fibroblast cell lines were significantly decreased ( P<0.05), and the levels of SMN protein normalized to that of β-actin, and the numbers of gems bodies in the primary fibroblast cells were also significantly lower ( P<0.05). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic (PS3+ PM3+ PM5+ PP3; PS3+ PM3+ PM4+ PP3). Following the diagnosis, both children had received nusinersen treatment. Although their motor function was improved, child 1 still died at the age of 2 due to severe pulmonary infection. The walking ability of child 2 was significantly improved, and his prognosis appeared to be good. Conclusion:Two cases of clinically complicated SMA have been confirmed by genetic testing and experimental studies, which has provided a reference for their accurate treatment.

Objectives:To investigate the effect of fat suppression (FS) T 2WI on the interobserver agreement and diagnostic performance of clear cell likelihood score version 2.0 (ccLS v2.0) for clear cell renal cell carcinoma (ccRCC). Methods:In this retrospective study, the MR images of 111 patients with pathologically confirmed small renal masses (SRM) from January to December 2021 were analyzed in the First Medical Centre, Chinese PLA General Hospital. Of the 111 SRM, 82 cases were ccRCC and 29 cases were non-ccRCC. Two radiologists independently assessed ccLS scores based on T 2WI signal intensity (hypointense, isointense, hyperintense) and other MRI features (ccLS-T 2WI). After a one-month interval, the ccLS scores were independently evaluated utilizing the frequency-selective saturation FS-T 2WI and other MRI features (ccLS-FS-T 2WI). Fisher′s exact test was used to compare the difference in SRM signal intensity on T 2WI and FS-T 2WI. The weighted Kappa test was performed to assess the interobserver agreement of the two radiologists, and differences in the weighted Kappa coefficients were compared using the Gwet consistency coefficient. Receiver operating characteristic curves were drawn to evaluate the diagnostic performance of ccLS-T 2WI and ccLS-FS-T 2WI in diagnosing ccRCC, and the area under the curve (AUC) was compared utilizing the DeLong test. Results:The signal intensity of 111 SRM on T 2WI and FS-T 2WI had statistically significant difference (χ 2=126.33, P<0.001), consistent in 88 cases (79.3%) and varied in 23 cases (20.7%). The weighted Kappa coefficient of ccLS-T 2WI was 0.57 (95%CI 0.45-0.69) between the two radiologists, and the weighted Kappa coefficient of ccLS-FS-T 2WI was 0.55 (95%CI 0.42-0.67), and the difference was not statistically significant ( t=-0.65, P=0.520). The AUC of ccLS-T 2WI for ccRCC diagnosis was 0.92 (95%CI 0.86-0.97), while the AUC of ccLS-FS-T 2WI for ccRCC diagnosis was 0.91 (95%CI 0.85-0.96), and the difference was not statistically significant ( Z=1.50, P=0.133). Conclusions:The interobserver agreement and diagnostic performance of ccLS v2.0 based on T 2WI and FS-T 2WI sequences for ccRCC are comparable, and FS-T 2WI is applicable for the clinical application of ccLS v2.0.

Objective:To investigate the clinical and MRI features of the mixed epithelial and stromal tumor family (MESTF) of the kidney.Methods:From January 2009 to September 2021, 42 patients with pathologically-proven MESTF from the First Medical Center of Chinese PLA General Hospital were collected in this retrospective study. Clinical information, MRI features, and pathological results were documented. According to the Bosniak classification (BC) version 2019, all MESTFs were divided into cystic MESTFs (36 cases) and solid-cystic MESTFs (6 cases). The R.E.N.A.L. nephrometry score (RNS), lesion size, laterality, location, margin, shape, growth pattern, presence of protruding into renal sinus, hemorrhage, and enhancement pattern were evaluated and documented. Based on BC versions 2005 and 2019, all the cystic MESTFs were assessed and divided into low (Ⅰ, Ⅱ, ⅡF) and high (Ⅲ, Ⅳ) grades. The independent sample t test or Mann-Whitney U test were performed to compare age, RNS, and lesion size between cystic MESTFs and solid-cystic MESTFs. Pearson χ 2 test, continuity-adjusted χ 2 test or Fisher exact probability test were utilized to evaluated the differences of clinical and MRI features and the distribution of low or high grades in two versions of BC. Results:Forty-two MESTFs were unilateral and solitary masses, 25 males and 17 females, with a mean age of (41±13) years old. Compared to solid-cystic MESTFs, cystic MESTFs were prone to demonstrate endophytic growth pattern (χ 2=17.77, P<0.001), and no significant differences in other clinical and MRI features were observed between cystic and solid-cystic MESTFs (all P>0.05). There were 7 low-grade and 29 high-grade tumors in the BC version 2005, respectively. Meanwhile, 24 low-grade and 12 high-grade tumors in the BC version 2019, respectively. The distribution of low or high-grade tumors in the two versions of BC had a statistically significant difference (χ 2=16.37, P<0.001). Conclusion:MESTFs demonstrated middle-age onset and no gender predilection. Cystic MESTFs are more likely to exhibit endophytic growth pattern with low-grade classification in BC system version 2019.

Objective:To explore the distribution of the copy number of survival motor neuron gene 2 ( SMN2) and the transcript level of the full-length SMN2 ( fl-SMN2) transcript level in patients with type 1-3 spinal muscular atrophy (SMA), and to evaluate their influences on disease severity, progression, and prognosis. Methods:It was a retrospective study involving 78 therapy-naive SMA patients with SMN1 gene homozygous deletion who were diagnosed and treated in the Capital Institute of Pediatrics from January 2019 to December 2021.Cross-sectional clinical data, including age at onset, motor milestones, and complications were recorded.They were followed up for monitoring motor function degeneration and survival.The copy number of SMN2 and the transcript level of fl-SMN2 were detected.Differences between groups were compared by the Student′s t-test or One- Way ANOVA or Chi- square test.Kaplan-Meier analysis was used for survival analysis, and Kendall′ s tau- c was performed to assess the correlation of these two biomarkers with SMA phenotypes, age at onset, motor milestones, and survival. Results:Of the 78 SMA patients, there were 17 cases (21.8%) of type 1, 34 cases(43.6%) of type 2, and 27 cases(34.6%) of type 3.Seven cases(41.2%) type 1 SMA patients died, with a median survival time of 11 months, and no deaths were observed in type 2 and type 3 SMA patients.There was a significant difference in the median age at onset among SMA patients with 2, 3, and 4 copies of SMN2 (1.8, 12.0, and 24.0 months, respectively; F=4.943, P=0.01). The mean transcript level of fl-SMN2 in type 1, 2 and 3 SMA patients were 196.25±68.79, 331.21±108.79 and 455.69±122.27, respectively ( F=37.154, P<0.001). The survival rate of SMA with 2 SMN2 copies at 1, 2, and 5 years were 50.5%, 0, and 0, respectively, and their median survival age was 7 months.The survival rate of SMA with 3 and 4 SMN2 copies at 5 years were 97.4% and 100.0%, respectively.Moreover, a negative correlation was observed between the transcript level of fl-SMN2 and phenotype severity ( Kendall′ s tau- c=-0.444, P<0.001), and the transcript level of fl-SMN2 of the survival group was much higher than that of the death group (342.93±125.74 vs.212.14±92.31). More copies of SMN2 and higher transcript level of fl- SMN2 indicated more motor function acquisitions (head control, sitting and walking) ( P<0.001). In addition, there was a significant difference in the transcription level of fl-SMN2 between the undegenerated group and the degenerated group in sitting and standing ( F=5.432, P=0.023 and F=4.315, P=0.047, respectively). Conclusions:Both the copy number of SMN2 and the transcript level of fl-SMN2 are correlated with SMA severity, survival, and motor milestones, serving as valuable biomarkers for evaluating phenotypic severity of SMA.The transcript level of fl-SMN2 s may play an important role in the degeneration of sitting and standing.