Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by persistent inflammation and joint damage, accompanied by the accumulation of plasma cells, which contributes to its pathogenesis. Understanding the genetic alterations occurring during plasma cell differentiation in RA can deepen our comprehension of its pathogenesis and guide the development of targeted therapeutic interventions. Here, our study elucidates the intricate molecular mechanisms underlying plasma cell differentiation by demonstrating that PRDX1 interacts with DOK3 and modulates its degradation by the autophagy-lysosome pathway. This interaction results in the inhibition of plasma cell differentiation, thereby alleviating the progression of collagen-induced arthritis. Additionally, our investigation identifies Salvianolic acid B (SAB) as a potent small molecular glue-like compound that enhances the interaction between PRDX1 and DOK3, consequently impeding the progression of collagen-induced arthritis by inhibiting plasma cell differentiation. Collectively, these findings underscore the therapeutic potential of developing chemical stabilizers for the PRDX1-DOK3 complex in suppressing plasma cell differentiation for RA treatment and establish a theoretical basis for targeting PRDX1-protein interactions as specific therapeutic targets in various diseases.

Objective:To evaluate the clinical outcomes of posterior approach vertebral column resection (VCR) osteotomy combined with titanium mesh bone-graft fusion and internal fixation for the treatment of special type stage IIIb Kummell disease.Methods:Twelve patients (3 males, 9 females) diagnosed with special type stage IIIb Kummell disease at Zhengzhou Orthopedics Hospital between October 2015 and June 2021 were enrolled. The mean age was 59.1±5.6 years (range, 53-67 years). All patients underwent VCR osteotomy, pedicle screw fixation, and posterior bone-graft fusion using titanium mesh. Preoperative and postoperative outcomes were assessed using visual analogue scale (VAS) scores, Oswestry Disability Index (ODI), Japanese Orthopaedic Association (JOA) scores, American Spinal Injury Association (ASIA) grading, Cobb angle correction, and bone graft fusion rate. Intraoperative and postoperative complications were also recorded.Results:All surgeries were completed successfully. The average follow-up duration was 11.6±1.8 months (range, 10-13 months). Significant improvements were observed in VAS scores, ODI, JOA scores, and Cobb angles at both two weeks postoperatively and at the final follow-up ( P<0.05), with no significant differences between the two time points ( P>0.05). The final recovery rates were 79.5% for VAS score, 73.2% for ODI, 72.1% for JOA score, and 77.3% for Cobb angle correction. Neurological function showed marked improvement. One patient developed delayed incision healing due to fat liquefaction but recovered following physical therapy. The remaining 11 patients experienced uneventful wound healing without infection or internal fixation loosening. One patient developed postoperative deep venous thrombosis of the lower limbs, which resolved with drug therapy. Conclusion:Posterior approach VCR combined with titanium mesh bone-graft fusion and internal fixation provides an effective surgical option for stage IIIb Kummell disease characterized by fractured vertebral bodies with only the broken upper and lower endplates remaining.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

The early biomarkers of renal tubular injury is critical for the early diagnosis and management of acute kidney injury（AKI）. Understanding these biomarkers facilitates the early diagnosis，treatment and prognostic evaluation of AKI. This article reviews the current status of clinical application of AKI biomarkers，and the progress of early biomarkers of renal tubular injury.The discovery and validation of novel biomarkers and their application in clinical practice are summarized as well. Furthermore，it demonstrates the localization of these biomarkers in renal tubule，as well as their significance and challenges in the personalized management of AKI.

Objective:To investigate the difference in efficacy of thoracic endovascular aortic repair (TEVAR) for high-risk uncomplicated Stanford B aortic dissection in acute versus subacute phase.Methods:The clinical and follow-up data of of 126 patients with high-risk, uncomplicated Stanford B aortic dissection treated with TEVAR at the Affiliated Hospital of Chengde Medical College from Jan 2014 to Oct 2020 were retrospectively analyzed.Results:One hundred and twenty-six patients were divided according to the time from onset to surgery into an acute phase group ( n=65, 1-14 days) and a subacute phase group ( n=61, 15-90 days). The average hospital stay of patients in the subacute phase group was significantly shorter than that of patients in the acute phase group ( P<0.05). One year post-operatively, abdominal aortic false lumen thrombosis in patients of the acute phase group was better than that in the subacute phase group ( P<0.05). The in hospital overall incidence of adverse events (total complications+death) was lower in the subacute phase group than in the acute phase group ( P<0.05). The difference in the long-term overall incidence of adverse events between the two groups was not statistically significant ( P>0.05). Conclusions:The TEVAR procedure for high-risk, uncomplicated Stanford B aortic dissection performed during the subacute phase had a lower postoperative in hospital incidence of adverse events.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To evaluate the clinical outcomes of posterior approach vertebral column resection (VCR) osteotomy combined with titanium mesh bone-graft fusion and internal fixation for the treatment of special type stage IIIb Kummell disease.Methods:Twelve patients (3 males, 9 females) diagnosed with special type stage IIIb Kummell disease at Zhengzhou Orthopedics Hospital between October 2015 and June 2021 were enrolled. The mean age was 59.1±5.6 years (range, 53-67 years). All patients underwent VCR osteotomy, pedicle screw fixation, and posterior bone-graft fusion using titanium mesh. Preoperative and postoperative outcomes were assessed using visual analogue scale (VAS) scores, Oswestry Disability Index (ODI), Japanese Orthopaedic Association (JOA) scores, American Spinal Injury Association (ASIA) grading, Cobb angle correction, and bone graft fusion rate. Intraoperative and postoperative complications were also recorded.Results:All surgeries were completed successfully. The average follow-up duration was 11.6±1.8 months (range, 10-13 months). Significant improvements were observed in VAS scores, ODI, JOA scores, and Cobb angles at both two weeks postoperatively and at the final follow-up ( P<0.05), with no significant differences between the two time points ( P>0.05). The final recovery rates were 79.5% for VAS score, 73.2% for ODI, 72.1% for JOA score, and 77.3% for Cobb angle correction. Neurological function showed marked improvement. One patient developed delayed incision healing due to fat liquefaction but recovered following physical therapy. The remaining 11 patients experienced uneventful wound healing without infection or internal fixation loosening. One patient developed postoperative deep venous thrombosis of the lower limbs, which resolved with drug therapy. Conclusion:Posterior approach VCR combined with titanium mesh bone-graft fusion and internal fixation provides an effective surgical option for stage IIIb Kummell disease characterized by fractured vertebral bodies with only the broken upper and lower endplates remaining.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.