ObjectiveTo observe the clinical efficacy of acupuncture combined with bloodletting and cupping in the treatment of chronic spontaneous urticaria（CSU） and to explore its potential mechanisms of action. MethodsSeventy CSU patients were randomly divided into loratadine group and acupuncture + bloodletting group， with 35 patients in each group. The loratadine group received oral loratadine tablets， 10 mg once daily in the evening. The acupuncture + bloodletting group received acupuncture at Zhongwan （CV 12）， Guanyuan （CV 4）， Tianshu （ST 25）， Zusanli （ST 36）， Sanyinjiao （SP 6）， Xuehai （SP 10）， Quchi （LI 11）， Hegu （LI 4）， Taichong （LR 3）， Baihui （GV 20）， and Shenting （GV 24）， once daily，along with bloodletting and cupping at Dazhui （GV 14） and Geshu （BL 17）， every other day. Both groups were treated for 4 weeks. The 7-day urticaria activity score（UAS7） was assessed before and after the treatment， and levels of serum immunoglobulin E （IgE）， interleukin-4 （IL-4）， interleukin-5 （IL-5）， eosinophil cationic protein （ECP）， plasma tissue factor （TF）， activated factor Ⅶ （FⅦa）， prothrombin fragment 1+2 （F1+2）， D-dimer （D-D） and complement component 5a （C5a） were detected. ResultsA total of 65 patients were included in the final analysis， 32 in the loratadine group and 33 in the acupuncture + bloodletting group. Before treatment， there was no significant difference in UAS7 score， serum IgE， IL-4， IL-5， ECP levels， or plasma TF， FⅦa， F1+2， D-D， C5a levels between groups （P＞ 0.05）. After treatment， both groups showed significant reductions in UAS7 score， serum IgE， IL-4， IL-5， and plasma TF， FⅦa， F1+2， D-D， and C5a levels compared to those before treatment （P＜0.01）. However， after treatment， there was no significant difference in UAS7 score and serum ECP， IgE， IL-4， IL-5 levels between groups （P＞0.05）. The acupuncture + bloodletting group showed lower plasma TF， FⅦa， F1+2， D-D and C5a levels compared to the loratadine group （P＜0.05 or P＜0.01）. ConclusionAcupuncture combined with bloodletting and cupping can effectively improve the skin symptoms of CSU patients and reduce the levels of inflammatory factors. The potential mechanism of action may involve the regulation of the coagulation-complement-mast cell activation axis， thereby inhibiting mast cell degranulation.

Objective To propose a whole-life cycle management model for valvular heart disease (VHD), systematically elucidate its underlying logic and implementation pathways, and concurrently review and analyze its preliminary application outcomes. Methods Since 2020, West China Hospital of Sichuan University has established a management system encompassing "assessment-decision-intervention-follow-up", including: (1) a risk-stratified, tiered management pathway; (2) six core functions ("promotion, screening, prevention, diagnosis, treatment, and rehabilitation") coordinated by disease-specific managers; (3) an intelligent decision support information platform; and (4) a collaborative network of multidisciplinary teams and regional academic alliances. To evaluate the effectiveness of this management model, we retrospectively included three cohorts: (1) the population screened by echocardiography from 2020 to 2024, analyzing the detection rate of aortic valve disease and risk stratification; (2) patients enrolled in the whole-life cycle management from April 2021 to December 2024, assessing follow-up outcomes, hospital satisfaction, and changes in quality of life; (3) patients who underwent transcatheter aortic valve replacement (TAVR) from January 2022 to January 2024, evaluating the one-year all-cause mortality rate, perioperative complications, and improvements in New York Heart Association (NYHA) classification. Results Between 2020 and 2024, a total of 583 874 individuals underwent echocardiographic screening. A total of 48 089 patients with aortic valve disease were identified, including 3 401 (7.1%) high-risk patients, 18 657 (38.8%) moderate-risk patients, and 26 031 (54.1%) low-risk patients. Among them, 2 417 patients were enrolled in whole-life cycle management. Patient satisfaction scores showed a yearly increase, rising from 73.89 points before 2020 to 93.74 points in 2024. The 1-year mortality rate in the TAVR cohort decreased to 5.3%, significantly lower than the 8.2% observed under early standard management between 2014 and 2019 (P<0.01). Conclusion Through process optimization and resource integration, the VHD whole-life cycle management model has demonstrated significant effectiveness in standardizing diagnostic and follow-up procedures, enhancing patient satisfaction and quality of life, and reducing mortality. These outcomes highlight its practical value for broader implementation in China.

Dachengqi Decoction is a classic prescription attacked by Yangming excessive syndromes in clinic, which has the effects of relieving heat, softening and dispersing knots, etc., and is often used in the treatment of gastrointestinal dysfunction caused by various diseases. This article reviewed the recent studies on the chemical compositions and pharmacological effects of Dachengqi Decoction in recent years. On this basis, combined with the "five principles" of TCM quality markers, the quality markers of Dachengqi Decoction were predicted and analyzed. It is suggested that emodin, Rhein, chrysophanol, aloe-emodin, synephrine, hesperidin, naringin, magnolol and magnolol can be used as quality markers of Dachengqi Decoction.

AIM: To investigate the effect of scleral-fixated capsular tension ring(SFCTR)combined with phacoemulsification and intraocular lens(IOL)implantation in the treatment of traumatic lens subluxation.METHODS: A total of 14 patients(14 eyes)who underwent SFCTR combined with phacoemulsification and IOL implantation for traumatic lens subluxation from December 2018 to February 2023 were selected. Visual acuity, intraocular pressure, anterior segment photography, and ultrasound biomicroscopy(UBM)were examined during postoperative follow-up. The location of IOL and postoperative complications were recorded.RESULTS: SFCTRs and IOLs were successfully implanted in all patients. The mean postoperative follow-up was 1.92±1.36 a. At the last follow-up, the uncorrected distance visual acuity(UDVA; 0.20±0.18 LogMAR)and corrected distance visual acuity(CDVA; 0.16±0.17 LogMAR)were significantly improved compared with the UDVA(1.13±0.56 LogMAR)preoperatively(P<0.01). The intraocular pressure(17.64±3.67 mmHg)was lower than that before the operation(22.00±9.92 mmHg; P<0.05). During the follow-up, the slit-lamp examination showed that the IOL was in the middle of the pouch. UBM examination showed that the CTR and IOL were located in the pouch, and the distance between the equatorial part of the pouch and the ciliary process was equal in all directions.CONCLUSION: The SFCTR combined with phacoemulsification and IOL implantation is an efficient and minimally invasive method in the treatment of traumatic lens subluxation.

Objective:To analyze the effect of mucosal ligament preservation on the outcome of arthroscopic repair of meniscus injury.Methods:A total of 77 patients with knee meniscus tears caused by sports injuries who underwent arthroscopic meniscus repair or suture in Zhengzhou Orthopaedic Hospital from June 2022 to June 2023, were retrospectively analyzed. Including 45 males and 32 females, aged 38.57±13.54 years (range, 52-87 years), body mass index 24.72±4.01 kg/m 2 (range, 34.14-13.61 kg/m 2). All patients complained of knee pain, limited activity and walking weakness. The symptoms were not relieved after 1 month of conservative treatment, which seriously affected daily work and life. According to the intraoperative treatment of mucosal ligament, the patients were divided into mucosal ligament preservation group and mucosal ligament removal group. The visual analogue score (VAS), Lysholm score, and total blood loss were compared between the two groups. Results:All patients successfully completed the operation and were followed up for an average of 5.23±2.16 months (range, 3-9 months). The operation time was 47.59±16.81 min in mucosal ligament preservation group and 45.25±15.93 min in mucosal ligament removal group, and there was no significant difference between the two groups ( t=0.628, P=0.532). The total blood loss in the mucosal ligament preservation group was 246±193 ml, which was less than 343±211 ml in the mucosal ligament removal group, and the difference was statistically significant ( t=2.095, P=0.040). None of the patients received allogeneic blood transfusion. The hematocrit of the mucosal ligament preservation group was 42.48%±4.57% before operation and 39.42%±4.65% on the third day after operation, while that of the mucosal ligament removal group was 41.24%±4.16% and 38.95%±3.80%. The difference between the two groups was statistically significant ( t=0.016, P=0.004; t=0.004, P=0.016). There was no significant difference between the two groups before operation and on the third day after operation ( t=0.217, P=0.545; t=0.629, P=0.159). The preoperative VAS score of mucosal ligament preservation group was 7.25±1.10, which was higher than that of 3 months after operation (0.83±1.06), and the difference was statistically significant ( t=0.062, P<0.001). The preoperative VAS score of mucosal ligament removal group was 7.16±1.21, which was higher than that of 3 months after operation (1.05±1.13), and the difference was statistically significant ( t=0.017, P<0.001). There was no significant difference in VAS scores between the two groups before operation and at 3 months after operation ( t=0.144, P=0.740; t= 0.273, P=0.603). The preoperative Lysholm score of mucosal ligament preservation group was 31.76±7.54, which was significantly lower than that of 3 months after operation 87.30±4.12 ( t=-39.329, P<0.001); The Lysholm score of the mucosal ligament removal group was 34.13±7.32 before operation, which was lower than 89.05±4.45 at 3 months after operation, and the difference was statistically significant ( t=-40.172, P<0.001); There was no significant difference in Lysholm score between the two groups before operation and 3 months after operation ( t=1.395, P=0.167; t=1.766, P=0.081). Conclusion:The preservation of mucosal ligament in arthroscopic surgery for meniscus injury does not prolong the operation time. It can reduce the total intraoperative blood loss, and the postoperative knee function recovery is similar to that of mucosal ligament removal.

Objective:To carry out clinical and genetic analysis for a child featuring Brain-Lung-Thyroid syndrome (BLTS).Methods:A child who had presented at the Children′s Hospital Affiliated to Shandong University on May 27, 2022 was selected as the study subject. Clinical data was collected. Trio-whole exome sequencing (Trio-WES) was carried out for the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The child was given individualized treatment following the diagnosis.Results:The child, a two-year-and-seven-month-old boy, had presented with global developmental delay, ataxia and hypothyroidism. WES revealed that he has harbored a heterozygous c. 674C>T variant of the NKX2-1 gene, based on which he was diagnosed with BLTS. CT scan revealed interstitial and parenchymal inflammation in his lungs, which was reduced by budesonide aerosol inhalation. Conclusion:Discovery of the novel c. 674C>T variant has enriched the mutational spectrum of the NKX2-1 gene. Budesonide aerosol may be used to treat lung inflammation associated with BLTS.

Objective:To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).Methods:Two MRD49 pedigrees which were admitted to the Children′s Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed. Genomic DNA was extracted from peripheral blood samples of the probands and their family members. The probands were subjected to mutational analysis by high-throughput sequencing. Candidate variants were validated using real-time fluorescence quantitative PCR (q-PCR) or Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Shandong University (No. SDFE-IRB/T-2022002).Results:Proband 1 had presented with language delay, motor retardation and intellectual disability, and his maternal grandmother, mother, aunt and cousin all had various degrees of intellectual disability. Sequencing results showed that proband 1 had deletion of exons 3 ~ 7 of the TRIP12 gene. q-PCR verification showed that his mother, aunt, maternal grandmother and cousin had all harbored the same deletion. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PP1). Proband 2, who had mainly presented with language delay, motor retardation and intellectual disability, and was found to harbor a heterozygous c.3010C>T (p.Arg1004*) variant of the TRIP12 gene, which was verified to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.

Objective This study aimed to evaluate the influence of ceramic type and thickness on the masking abili-ty and final aesthetic effects of chairside machinable all-ceramic crowns.Methods Six kinds from three types chairside machinable ceramic materials(IPS e.max CAD HT/MT/LT,IPS Empress LT,and VITA Suprinity HT/T)in shade A2 were fabricated to slice specimens into 1.0,1.5,and 2.0 mm-thick sections(n=10).The color parameters of the speci-mens against black and white tiles and four resin substrates(A2,A4,B3,and C4 shade)were measured with a spectro-photometer.The translucency parameter(TP)was calculated using color parameters measured over standard white and black backgrounds.The color differences(ΔE)were cal-culated between there substrate shades(A4,B3,C4)and A2 shade(control group).Two-way analysis of variance(ANOVA)was performed on the TP values.The two va-riables were ceramic type and ceramic thickness.Three-way ANOVA was used to determine the effects of ceramic materials,ceramic thickness,and substrate shades on the ΔE values,followed by Tukey test for multiple comparisons(α=0.05).Results Ceramic type,ceramic thickness,and sub-strate shade significantly affected the ΔE values(P<0.001).The L* and b* values of the specimens increased with in-creasing ceramic thickness,except in substrate A2,whereas the ΔE values decreased.The color difference of all 1.0 mm-thick specimens or all specimens over the substrates C4 shade exceeded the clinically acceptable threshold(ΔE>3.3).Conclusion The masking ability of chairside machinable all-ceramic crowns is influenced by ceramic type and thick-ness,and ceramic material.The thickness of ceramic less than 2.0 mm cannot mask the gray shade abutment.

Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.

OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
Child ; Humans ; Developmental Disabilities/genetics* ; High-Throughput Nucleotide Sequencing ; Intellectual Disability/genetics* ; Karyotyping ; Mutation