To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Objective:To evaluate the feasibility, safety, and clinical outcomes of full-time full-endoscopic lumbar interbody fusion (FELIF) using a bladed retractor fusion channel (BRFC) system with reversed-mounting designed instruments compared to a tubular fusion channel (TFC).Methods:This retrospective study analyzed 101 cases of uniportal coaxial endoscopic lumbar interbody fusion performed between June 2018 and April 2023. Based on the type of fusion channel utilized, patients were divided into the TFC group (59 cases) and the BRFC group (42 cases). The BRFC technique involved neurological decompression, endplate preparation, and interbody fusion performed under full-time endoscopic monitoring with reversed-mounting designed instruments. Key parameters, including surgery duration, intraoperative estimated blood loss (IEBL), complication incidence, and interbody fusion rate (assessed by Bridwell criteria), were compared between the two groups. Clinical outcomes, including visual analog scale (VAS) scores for back and leg pain, Japanese Orthopaedic Association (JOA) scores, and Oswestry Disability Index (ODI), were recorded preoperatively, postoperatively, and at the final follow-up. Additionally, disc height at the fusion level was measured at one week postoperatively.Results:The mean follow-up duration was 42.9±12.1 months in the TFC group and 20.9±4.9 months in the BRFC group. No statistically significant differences were observed between the two groups in terms of surgery duration, IEBL, complication incidence, or interbody fusion rate (Grade 1 or 2 by Bridwell criteria) ( P>0.05). For single-level cases, the TFC group showed significantly better short-term clinical outcomes than the BRFC group at one week postoperatively, with JOA scores of 23(20, 25) versus 20(18, 23) ( Z=3.020, P=0.003) and ODI scores of 16%(11%, 21%) versus 28%(21%, 41%) ( Z=4.740, P<0.001). For double-level cases, the JOA score in the TFC group [23(20, 25)] was also significantly better than that in the BRFC group [20(18, 21)] ( Z=2.054, P=0.040) at one week postoperatively. However, at the final follow-up, all clinical indicators showed no significant differences between the two groups ( P>0.05). The disc height at the fusion level significantly increased at one week postoperatively compared to preoperative measurements in both groups ( P<0.05). However, the BRFC group demonstrated a significantly more recovery of disc height at one week postoperatively [(1.46±0.28) cm] compared to the TFC group [(1.17±0.20) cm] ( t=5.947, P<0.001). Conclusion:Full-time FELIF using the BRFC system and reversed-mounting designed instruments is a feasible, safe, and effective approach. However, its short-term clinical outcomes appear inferior to traditional FELIF using the TFC system.

This article reports a rare case of thrombotic microangiopathy (TMA) with renal involvement complicated by allogeneic hematopoietic stem cell transplantation (allo-HSCT). The patient appeared increased serum creatinine 20 d after allo-HSCT, and gradually appeared hypertension, oliguria and edema. Despite discontinuing suspected medications, serum creatinine level did not decrease. Treatment with basiliximab and mycophenolate mofetil was initiated to prevent rejection, leading to gradual normalization of urine output and serum creatinine level. However, after stopping mycophenolate mofetil, the patient experienced recurrent increased blood pressure and decreased pulse oximetry, responding well to prednisone but recurring upon cessation, with gradually increased serum creatinine level. Renal pathology indicated that chronic TMA after allo-HSCT caused renal injury, primarily affecting the glomeruli. The renal function achieved long-term stability through low-dose prednisone and symptomatic treatment. By reviewing relevant literature, we discussed the clinical manifestations, laboratory tests, pathological features and treatment strategies of TMA with renal involvement complicated by allo-HSCT.

This paper presents a rare case of renal amyloidosis complicated with primary minimal change disease. The patient initially presented with edema and proteinuria, accompanied by IgG-λ monoclonal immunoglobulinemia, leading to a diagnosis of primary systemic immunoglobulin light chain amyloidosis with renal involvement. Following treatment, the patient achieved both hematologic and renal remission. However, a renal relapse occurred two years later, presenting as nephrotic syndrome without hematologic disease recurrence. A repeat renal biopsy revealed no obvious change in amyloid deposition, but demonstrated markedly enlarged effacement of podocyte foot processes. Based on these findings, a secondary diagnosis of primary minimal change disease was established. The patient exhibited a rapid response to immunosuppressive therapy, achieving sustained long-term remission. This case underscores the importance of remaining vigilant to etiological changes in the treatment of renal diseases and highlights the role of repeated renal biopsy in refining the diagnosis and guiding treatment.

AIM:To investigate the effects of glutathione-S-transferase(GST)gene polymorphism on the concentration of 6-thioguanine nucleotides(6-TGN),an active metabolite of azathioprine(AZA),in patients with inflammatory bowel disease(IBD),in order to provide reference for the optimization of AZA treatment in patients.METHODS:The clini-cal data of patients with IBD treated by AZA were collected prospectively,the genotypes of GST-A1,GST-M1,GST-P1 and GST-T1 were detected by tar-geted sequencing of multiplex PCR combined with high-throughput sequencing technology before ad-ministration,and the steady-state trough concen-trations of 6-TGN in patients' red blood cells were determined by HPLC.Statistical analysis was carried out by SPSS 26.0 software.RESULTS:A total of 90 patients were included in this study.The alleles fre-quencies of GST-A1,GST-M1,GST-P1 and GST-T1 were consistent with Hardy-Weinberg equilibrium law.Logistic regression analysis showed that carry-ing GST-A1 mutant gene was an independent risk factor for the increase of trough concentration of 6-TGN(low concentration OR=17.50,P=0.030;high concentration OR=3.60,P=0.033),while the gene polymorphism of GST-M1,GST-P1,GST-T1 had no significant correlation with the concentration of 6-TGN(P＞0.05).CONCLUSION:The gene polymor-phism of GST-A1 may affect the concentration of 6-TGN,an active metabolite of AZA,and detection of GST-A1 genotype before AZA treatment will contrib-ute to clinical individualized medication.

Under the current situation of "low prevalence and low infection" of schistosomiasis in China, and to provide a basis for achieving the goal of eliminating schistosomiasis by 2030 proposed by the Healthy China Action (2019 - 2030) as scheduled, the Hunan Provincial Corps Hospital of the Chinese People's Armed Police Force established a schistosomiasis monitoring and early warning index system based on the previous studies on schistosomiasis early warning index system and the recent literature analysis, combined with the current potential risk factors affecting the transmission and prevalence of schistosomiasis, and organized two rounds of expert consultation and carried out project promotion meetings. The experts reached a consensus on the comprehensiveness and practicability of the index system, aiming to lay a solid foundation for construction of China's schistosomiasis prevention and control early warning system.

Objective To investigate the value of dynamic contrast-enhanced magnetic resonance imaging(DCE-MRI)parameters in evaluating the short-term prognosis of laryngeal cancer patients after postoperative radiotherapy.Methods A case-control study was performed on 127 laryngeal cancer patients admitted to our hospital from January 2021 to December 2023.The patients underwent different tumor treatment followed by radical radiotherapy.According to tumor recurrence or not,they were divided into a recurrence group(n=50)and a non-recurrence group(n=77).DCE-MRI parameters,such as volume transfer constant(Ktrans),rate constant(Kep),and volume fraction of extracellular extravascular space(Ve),and clinical data were compared between the 2 groups.Multivariate logistic regression analysis was used to identify influencing factors for short-term prognosis after radiotherapy.Receiver operating characteristic(ROC)curves were plotted to evaluate the predictive efficacy of DCE-MRI parameters,and the area under the curve(AUC)was calculated.Results The recurrence group had significantly larger proportions of positive surgical margins,preoperative maximum lesion diameter≥4 cm,ulcerative lesions,stages N1～N3,and advanced stages Ⅲ～Ⅳ,and obviously higher Ktrans and Kep values but lower Ve valus than the non-recurrence group(P<0.05).Multivariate logistic regression analysis indicated that positive surgical margins,stages N1～N3,Ktrans,and Kep were independent risk factors for short-term prognosis,while Ve was a protective factor(P<0.05).ROC curve analysis showed that the AUC value of combination of Ktrans,Kep and Ve and of above 5 indicators in predicting short-term prognosis of postoperative radiotherapy for laryngeal cancer was 0.920(95%CI:0.858～0.961)and 0.923(95%CI:0.862～0.963),respectively.Though the AUC value of combined 3 parameters was significantly higher than that of the single indicator alone(P<0.05),there was no difference in the value between the combination of 3 parameters and the combined application of the 5 indicators.Conclusion DCE-MRI parameters Ktrans,Kep,and Ve are closely associated with short-term prognosis of postoperative radiotherapy for laryngeal cancer.Their combination has a good predictive efficacy for the short-term prognosis of the patients.

OBJECTIVE To explore the short-term efficacy,safety and related influencing factors of subcutaneous immunotherapy(SCIT)in children with allergic rhinitis(AR).METHODS Retrospective analyzed the clinical data of 147 children with AR who underwent SCIT at Shenzhen Hospital of Southern Medical University from August 2020 to May 2024.The clinical characteristics and laboratory parameters were collected,the visual analogue scale(VAS),total symptom score(TSS),total medication score(TMS)and combined symptom medication score(CSMS)were compared at the baseline and 3,6 and 12 months after treatment.The incidence of local adverse reactions(LRs)and systemic adverse reactions(SRs)during treatment was also documented.RESULTS A total of 147 children with AR aged 5-18 years were included in the study.A significant reduction was observed in VAS,TSS,TMS and CSMS at months 3,6 and 12 of follow up compared with baseline(all P<0.001),and the short-term onset time was months 3 after treatment.The level of VitD3 in the effective group was significantly higher than that in the ineffective group(P<0.001).Serum VitD3 level was negatively correlated with clinical symptom(R=-0.3,P=0.026).The total number of injections in 147 children was 3201.LRs occurred in 52 children(35.4％),the number of injections was 69(2.2％).SRs occurred in 21 children(14.3％),and the number of injections was 34(1.1％).No grade Ⅲ or Ⅳ SRs occurred.In the logistic regression analysis,body mass index(BMI)was a risk factor for LRs(OR:2.220,95％CI:1.009-4.887,P=0.048).CONCLUSION SCIT demonstrates significant early efficacy and a favorable safety profile safety in children with AR.Serum Vitamin D3 deficiency can affect the short-term efficacy of SCIT.Overweight and obese children are prone to develop local adverse reactions.

ObjectiveTo observe the clinical efficacy and safety of traditional Chinese medicine （TCM） triple therapy in the treatment of spontaneous bacterial peritonitis （SBP） with damp-heat stagnation and toxin-blood stasis syndrome in liver cirrhosis patients， and to explore its potential mechanisms of action. MethodsEighty-six patients were randomly divided into the experimental group and the control group， with 43 patients in each group. Both groups received standard western medicine treatment， while the experimental group additionally received TCM triple therapy， including oral Qingre Liangxue Jiedu Decoction （清热凉血解毒汤）， retention enema with Dachengi Decoction （大承气汤）， and abdominal application of Qingre Zhitong Lishui Fomulation （清热止痛利水方） with lotus leaf. Both groups were treated for 2 weeks. Before and after treatment， various indicators were measured， such as TCM syndrome scores， ascites volume measured by abdominal ultrasound， liver function indicators including total bilirubin （TBIL）， alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， and albumin （ALB）， infection markers， including neutrophil percentage （NEUT%）， C-reactive protein （CRP）， and procalcitonin （PCT）， inflammatory factors， such as tumor necrosis factor-alpha （TNF-ɑ）， interleukin-6 （IL-6）， and interleukin-10 （IL-10）， intestinal mucosal barrier function markers， including endotoxin （ET）， diamine oxidase （DAO）， D-lactic acid （D-Lac）， occludin， and zonula occludens-1 （ZO-1）， and peritoneal polymorphonuclear （PMN） cell counts at 72 hours post-treatment. ResultsA total of 82 patients were included in the final analysis， with 41 patients in each group. The total effective rate for TCM syndrome in the experimental group was 92.68% （38/41）， which was significantly higher than the 80.49% （33/41） in the control group （P＜0.05）. Compared with pre-treatment values， both groups showed significant reductions in TCM syndrome scores， ascites volume， TBIL， ALT， AST， NEUT%， CRP， PCT， TNF-α， IL-6， ET， DAO， D-Lac， Occludin， and ZO-1， with an increase in IL-10 levels and a decrease in PMN count in ascites 72 hours post-treatment （P＜0.05）. Furthermore， the experimental group outperformed the control group in all the above indicators after treatment （P＜0.05）. The disappearance time of fever and abdominal pain was shorter in the experimental group than in the control group （P＜0.01）. There were no significant changes in routine urine and stool tests， renal function， electrolytes， or electrocardiogram in either group compared with pre-treatment values. ConclusionTCM triple therapy in addition to western medicine routine treatment could significantly improves clinical symptoms in patients with liver cirrhosis and SBP with damp-heat stagnation and toxin-blood stasis syndrome， alleviates liver inflammation， improves liver function， accelerates the resolution of ascites， and increases clinical efficacy. The potential mechanism may be related to the regulation of the inflammatory response and the promotion of intestinal mucosal barrier repair.