OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Puerariae Lobatae Radix and Puerariae Thomsonii Radix are the dried roots of Pueraria lobata and Pueraria thomsonii of the Leguminosae family， respectively. Since their separate inclusion in the 2005 edition of Pharmacopoeia of the People's Republic of China， the two herbs have been individually recorded. Although they share the same functions and indications， the required content of puerarin differs by a factor of up to eightfold between them. The current quality standard relies solely on a single indicator， puerarin， which fails to reflect the correlation between chemical constituents and core therapeutic effects. This has resulted in prominent issues of mixed use in clinical practice and production， thereby constraining the high-quality development of the industry. Modern research has demonstrated that Puerariae Lobatae Radix contains a comprehensive range and higher content of isoflavonoid constituents， while Puerariae Thomsonii Radix is rich in starch and polysaccharides. Puerariae Lobatae Radix exhibits stronger effects in antipyresis， cardiovascular and cerebrovascular protection， and central analgesia， while Puerariae Thomsonii Radix demonstrates greater advantages in anti-inflammation， hypoglycemia， and peripheral analgesia. Based on this， the chemical material bases of Puerariae Lobatae Radix and Puerariae Thomsonii Radix at both the macromolecule and micromolecule levels were systematically reviewed and compared. The pharmacodynamic material bases and mechanisms of action underlying their three core therapeutic effects， namely "relieving exterior syndrome and clearing heat"， "promoting fluid production to quench thirst"， and "dredging channels and activating collaterals"， were summarized. The most highly correlated common metabolic pathway shared by both herbs for these three therapeutic effects is the arachidonic acid metabolic pathway， and their common core target is prostaglandin-endoperoxide synthase 2 （PTGS2）. This review provided clinical application recommendations based on the therapeutic differences between the two herbs， elucidated the scientific connotation of their "same origin but different effects"， and， grounded in the quality marker （Q-Marker）， proposed the concept of efficacy-related Q-Marker based on "substance-efficacy-syndrome" association， as well as a novel strategy for efficacy-oriented quality evaluation. Preliminary screening of quality markers associated with different therapeutic effects was also conducted. This study aims to provide critical scientific evidence for the precise clinical application of Puerariae Lobatae Radix and Puerariae Thomsonii Radix， the improvement of quality standards， and the high-quality development of the industry.

The mechanism of neuropathic pain after spinal cord injury is still unclear, which might be closely related to ion channel changes, central sensitization and decreased function of descending inhibitory system after injury. Existing studies have shown that the nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 (NLRP3) inflammasome play a key role in neuropathic pain after spinal cord injury; therefore, targeting NLRP3 inflammasome is a promising therapeutic strategy. This review analyzes the molecular mechanism and treatment of NLRP3 inflammasome in neuropathic pain after spinal cord injury, aiming to provide references for pathogenesis and treatment of neuropathic pain after spinal cord injury.

Objective To investigate the current symptom status of maintenance hemodialysis(MHD)patients,analyze the influencing factors from the perspective of multidimensional symptom burden,extract symptom groups,and construct a symptom network.Methods A total of 490 patients who received MHD at the blood purification center of a tertiary hospital in Shanghai from March to April 2025 were selected using a convenience sampling method.30 symptoms of MHD patients were investigated using a modified dialysis symptom index table.SPSS and R software were utilized to analyze the influencing factors,extract symptom groups,and construct a multidimensional symptom network.Results A total of 488 valid questionnaires were collected,with a valid questionnaire recovery rate of 99.59％.The median number of symptoms experienced by patients was 6(interquartile range:4,8),with the top 5 symptoms being dry skin(69.88％),fatigue or tiredness(56.97％),itching(56.97％),worry(50.20％),and dry mouth(46.31％).Multidimensional analysis indicated that age,duration of dialysis,education level,and complications were influencing factors of symptom burden scores across different dimensions.6 stable symptom groups were extracted,namely skin discomfort,fatigue and pain,gastrointestinal tract,sleep disorders,water-electrolyte imbalance,and uremia.The results of the symptom network analysis revealed that difficulty of falling asleep had the highest intensity centrality(rs=2.18,2.25,2.12).Conclusion The symptom association is relatively stable,and difficulty of falling asleep is the core symptom.This finding can assist clinical medical staff in achieving efficiency and precision in symptom group management.

Background and purpose:The Shanghai Municipal Center for Disease Control and Prevention provides annual updates on cancer statistics in Shanghai.Breast cancer is one of the common malignant tumors among women.In recent years,the incidence of female breast cancer was increasing,while its trend of mortality showed declining.This study aimed to investigate the survival rates of new female breast cancer cases in Shanghai from 2002 to 2017.Methods:Data of new cases and deaths of female breast cancer patients with follow-up information from 2002 to 2017 were obtained from the Population-based Cancer Registry and Vital Statistics System of Shanghai Municipal Center for Disease Control and Prevention.Numbers,proportions,and survival rates were stratified by year of diagnosis,age,histological type and stage at diagnosis for analysis.The 5-year observed survival rates were calculated based on the life table method.The probabilities of surviving from 0 to 99 years were estimated with the Elandt-Johnson model,and then cumulative expected survival rates were calculated using the Ederer Ⅱ method.Finally,the 5-year relative survival rates were calculated.The annual percent change(APC)of survival rates was estimated by Joinpoint Regression Program.Results:A total of 73 600 new female breast cancer cases were diagnosed from 2002 to 2017 in Shanghai.Among them,67 681 cases were morphological verification,accounting for 91.96%.By December 31,2022,23 745(32.26%)cases had died,and 19 466(26.45%)cases had died of cancer.A total of 68 332(92.84%)cases,who were either dead or followed for over 5 years,were considered to have complete follow-up.The remaining 5 268(7.16%)cases were lost to follow-up.73 538(99.92%)cases were included in the observed cohort for survival analysis.The number of observed cases nearly doubled from 3330 in 2002 to 6095 in 2017.The 5-year observed survival rate changed from 78.77%in 2002 to 84.55%in 2017 dynamically,showed a low increasing trend with an average rate of 0.50%per year(APC=0.50%,t=8.75,P＜0.001).The 5-year relative survival rate also increased from 83.46%to 89.24%slowly,with an average rate of 0.47%(APC=0.47%,t=9.80,P＜0.001).The overall 5-year observation survival rate of female cancer was 83.24%(82.96%-83.52%),and the 5-year relative survival rate was 87.58%(87.29%-87.87%)in Shanghai from 2002 to 2017.It was increasing over time,decreasing with aging and advanced stage at diagnosis continuously.There was no significant difference in the 5-year relative survival rates between the groups aged 15 to 64(P＞0.05).The group with an unknown stage had the highest number of cases,followed by the stage Ⅱ group,and then the stage Ⅰ group.The 5-year relative survival rate of cases with stage Ⅰ disease reached 99.10%(98.78%-99.42%),but these cases only accounted for 25.51%of the total.The 5-year relative survival rate of cases with stage Ⅳ disease was 52.54%(50.98%-54.11%),and these cases accounted for 6.13%of the total.The 5-year relative survival rate of cases with s unknown stage was 82.04%(81.42%-82.65%),and these cases accounted for 31.05%of the total.Conclusion:The diagnostic levels and survival rates of female breast cancer in Shanghai were relatively high and continue to improve.However,the proportions of cases with unknown histological type and unknown stage remain relatively high,and the proportion of stage Ⅰ cases is not very large.The survival rates of stage Ⅳ cases are relatively low.This study provides evidence for further research,prevention and control efforts for female breast cancer.

AIM:To analyze the expression of se-creted phosphoprotein 1(SPP1)and programmed cell death-ligand 1(PD-L1)in SMARCA4-deficient non-small cell lung cancer,and to provide a scientif-ic basis for the study of the follow-up treatment of this rare pathological type of lung cancer.METH-ODS:The clinical and pathological characteristics of 12 patients with this disease were analyzed retro-spectively,and the patients were divided into two groups of adenocarcinomas and poorly differentiat-ed carcinomas according to their morphological characteristics,and the relationship between the expression of SPP1 and PD-L1 was analyzed in the two groups.RESULTS:SPP1 expression was detect-ed in all patients and Its expression level was signif-icantly higher in the poorly differentiated carcino-ma group compared with the adenocarcinoma group(P=0.015);PD-L1 expression was found in 6/7 patients(5 cases were not measured),compared with the adenocarcinoma group,PD-L1 was also highly expressed in the poorly differentiated carci-noma group(P=0.048)and the PD-L1 difference be-tween the two groups suggested that the results were similar to those of SPP1.CONCLUSION:SMARCA4-deficient non-small cell lung cancer has high positive expression of SPP1 and PD-L1.It was more pronounced in patients with poorly differenti-ated carcinoma.There may be a positive correla-tion between SPP1 and PD-L1 expression in SMAR-CA4-deficient non-small cell lung cancer and the mechanism of the correlation needs to be further verified in subsequent studies.

The mechanism of neuropathic pain after spinal cord injury is still unclear, which might be closely related to ion channel changes, central sensitization and decreased function of descending inhibitory system after injury. Existing studies have shown that the nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 (NLRP3) inflammasome play a key role in neuropathic pain after spinal cord injury; therefore, targeting NLRP3 inflammasome is a promising therapeutic strategy. This review analyzes the molecular mechanism and treatment of NLRP3 inflammasome in neuropathic pain after spinal cord injury, aiming to provide references for pathogenesis and treatment of neuropathic pain after spinal cord injury.

Objective:To investigate the efficacy of preserving the urethral ridge during Holmium laser enucleation of the prostate（HoLEP）in preventing postoperative retrograde ejaculation and to evaluate its impact on sexual function.Methods:This prospective cohort study enrolled patients with benign prostatic hyperplasia（BPH）who underwent HoLEP at Xiamen Haicang Hospital（Haicang Hospital Affiliated to Xiamen Medical College）from November 2022 to June 2024. Inclusion criteria were as follows：diagnosis of BPH confirmed by color Doppler ultrasound；International Prostate Symptom Score（IPSS）> 7；maximum urinary flow rate（Q max）< 15 ml/s；prostate-specific antigen（PSA）< 4 ng/ml；and an active sexual life with intact antegrade ejaculation. Exclusion criteria included neurogenic bladder，active urinary tract infection（UTI），and other relevant conditions. Patients were grouped based on the operating surgeon's comprehensive judgment during surgery，considering the degree of prostatic median lobe hyperplasia（preserved if hyperplasia was mild，not preserved if severe）. The EP-HoLEP group underwent “tunnel technique” enucleation of the middle lobe hyperplasia with preservation of the urethral ridge，while the HoLEP group underwent conventional prostate enucleation. Primary outcomes included postoperative retrograde ejaculation rate，International Index of Erectile Function（IIEF），Ejaculation Projection Score（EPS），IPSS，Quality of Life Score（QOL），Q max，post-void residual urine volume（PVR），operative time，and postoperative complications. Univariate analysis was used to screen potential influencing factors，followed by multivariate logistic regression to identify independent predictors. Results:Seventy patients with BPH were enrolled，with 35 in each group. Baseline characteristics，including age［（69.97 ± 5.14）years vs.（72.34 ± 5.08）years］，body mass index（BMI）［（22.99 ± 1.41）kg/m2 vs.（23.16 ± 1.38）kg/m2］，prostate volume［47.4（31.9，59.4）ml vs. 44.2（34.9，61.7）ml］，PSA［4.0（1.9，8.2）ng/ml vs. 3.1（2.6，5.0）ng/ml］，hemoglobin［（130.09 ± 12.92）g/L vs.（125.69 ± 17.26）g/L］，IPSS［17（10，22）vs. 17（10，27）］，QOL［5（4，5）vs. 4（4，5）］，Q max［7.5（6.3，9.1）ml/s vs. 7.0（5.9，8.9）ml/s］and PVR［65（22，167）ml vs. 60（16，150）ml］showed no statistically significant differences between the two groups（ P > 0.05）. Operative time［65（55，76）min vs. 63（55，73）min］，postoperative 2-hour hemoglobin［（124.17 ± 14.89）g/L vs.（120.11 ± 15.44）g/L］，and postoperative hospital stay［（3.94 ± 1.89）days vs.（3.66 ± 1.53）days］were also comparable between the two groups（ P > 0.05）. No significant difference was observed in the decrease in IIEF score［1（0，2）vs. 2（0，6）， P = 0.203］. EPS at 3 months［2（1，3）vs. 1（0，2）， P < 0.001］and at 6 months［2（1，2）vs. 1（0，2）， P < 0.001］postoperatively were significantly higher in the EP-HoLEP group. The incidence of postoperative UTI did not differ significantly［5.7%（2/35）vs. 2.9%（1/35）， P = 1.00］. Two cases of urinary retention occurred after catheter removal in the EP-HoLEP group，while none occurred in the HoLEP group. No blood transfusions or urethral strictures were reported in either group. The incidence of retrograde ejaculation was significantly lower in the EP-HoLEP group［28.6%（10/35）vs. 68.6%（24/35）， P <0.001］. Multivariable logistic regression analysis showed that urethral ridge preservation was an independent protective factor for retrograde ejaculation after HoLEP（ OR = 0.159，95% CI 0.053 ? 0.476， P = 0.001）. Conclusions:Urethral ridge preservation during HoLEP is safe and feasible，significantly reduces retrograde ejaculation，and preserves ejaculatory function，though it offers limited erectile function preservation. This approach is suitable for middle-aged，young，or younger elderly patients who prioritize ejaculatory quality，and provides clinical evidence for surgical optimization.

Objective:To investigate the efficacy of preserving the urethral ridge during Holmium laser enucleation of the prostate（HoLEP）in preventing postoperative retrograde ejaculation and to evaluate its impact on sexual function.Methods:This prospective cohort study enrolled patients with benign prostatic hyperplasia（BPH）who underwent HoLEP at Xiamen Haicang Hospital（Haicang Hospital Affiliated to Xiamen Medical College）from November 2022 to June 2024. Inclusion criteria were as follows：diagnosis of BPH confirmed by color Doppler ultrasound；International Prostate Symptom Score（IPSS）> 7；maximum urinary flow rate（Q max）< 15 ml/s；prostate-specific antigen（PSA）< 4 ng/ml；and an active sexual life with intact antegrade ejaculation. Exclusion criteria included neurogenic bladder，active urinary tract infection（UTI），and other relevant conditions. Patients were grouped based on the operating surgeon's comprehensive judgment during surgery，considering the degree of prostatic median lobe hyperplasia（preserved if hyperplasia was mild，not preserved if severe）. The EP-HoLEP group underwent “tunnel technique” enucleation of the middle lobe hyperplasia with preservation of the urethral ridge，while the HoLEP group underwent conventional prostate enucleation. Primary outcomes included postoperative retrograde ejaculation rate，International Index of Erectile Function（IIEF），Ejaculation Projection Score（EPS），IPSS，Quality of Life Score（QOL），Q max，post-void residual urine volume（PVR），operative time，and postoperative complications. Univariate analysis was used to screen potential influencing factors，followed by multivariate logistic regression to identify independent predictors. Results:Seventy patients with BPH were enrolled，with 35 in each group. Baseline characteristics，including age［（69.97 ± 5.14）years vs.（72.34 ± 5.08）years］，body mass index（BMI）［（22.99 ± 1.41）kg/m2 vs.（23.16 ± 1.38）kg/m2］，prostate volume［47.4（31.9，59.4）ml vs. 44.2（34.9，61.7）ml］，PSA［4.0（1.9，8.2）ng/ml vs. 3.1（2.6，5.0）ng/ml］，hemoglobin［（130.09 ± 12.92）g/L vs.（125.69 ± 17.26）g/L］，IPSS［17（10，22）vs. 17（10，27）］，QOL［5（4，5）vs. 4（4，5）］，Q max［7.5（6.3，9.1）ml/s vs. 7.0（5.9，8.9）ml/s］and PVR［65（22，167）ml vs. 60（16，150）ml］showed no statistically significant differences between the two groups（ P > 0.05）. Operative time［65（55，76）min vs. 63（55，73）min］，postoperative 2-hour hemoglobin［（124.17 ± 14.89）g/L vs.（120.11 ± 15.44）g/L］，and postoperative hospital stay［（3.94 ± 1.89）days vs.（3.66 ± 1.53）days］were also comparable between the two groups（ P > 0.05）. No significant difference was observed in the decrease in IIEF score［1（0，2）vs. 2（0，6）， P = 0.203］. EPS at 3 months［2（1，3）vs. 1（0，2）， P < 0.001］and at 6 months［2（1，2）vs. 1（0，2）， P < 0.001］postoperatively were significantly higher in the EP-HoLEP group. The incidence of postoperative UTI did not differ significantly［5.7%（2/35）vs. 2.9%（1/35）， P = 1.00］. Two cases of urinary retention occurred after catheter removal in the EP-HoLEP group，while none occurred in the HoLEP group. No blood transfusions or urethral strictures were reported in either group. The incidence of retrograde ejaculation was significantly lower in the EP-HoLEP group［28.6%（10/35）vs. 68.6%（24/35）， P <0.001］. Multivariable logistic regression analysis showed that urethral ridge preservation was an independent protective factor for retrograde ejaculation after HoLEP（ OR = 0.159，95% CI 0.053 ? 0.476， P = 0.001）. Conclusions:Urethral ridge preservation during HoLEP is safe and feasible，significantly reduces retrograde ejaculation，and preserves ejaculatory function，though it offers limited erectile function preservation. This approach is suitable for middle-aged，young，or younger elderly patients who prioritize ejaculatory quality，and provides clinical evidence for surgical optimization.

Objective To explore the effects of behavior change intervention based on the multi-ple-theory model on patients with dyslipidemic ischemic stroke.Methods A total of 93 patients with dyslipidemic ischemic stroke who were hospitalized in the vascular neurology ward of Beijing Tiantan Hospital,Capital Medical University from January to August 2024 were selected as the study subjects using the convenience sampling method.They were randomly divided into control group(n=49)and intervention group(n=44)using the envelope-drawing method.Patients in the control group re-ceived routine stroke health education,while those in the intervention group underwent a 3-month be-havior change program guided by the multiple-theory model.The levels of healthy behaviors,body mass index(BMI),total cholesterol(TC),triglycerides(TG),high-density lipoprotein(HDL-C),and low-density lipoprotein(LDL-C)were compared between the two groups.Results There were no statistically significant differences in general information and disease-related data between the two groups(P＞0.05).At 1-,3-,and 6-month after the intervention,the level of healthy behaviors in the intervention group was higher than that in the control group,with statistically significant differ-ences(P＜0.05).There was a statistically significant difference in BMI between the two groups at 6 months after the intervention(P＜0.05).The TC levels in the intervention group at 3 and 6 months after the intervention were lower than those in the control group,with statistically significant differences(P＜0.05).The HDL-C level in the intervention group at 6 months after the intervention was high-er than that in the control group,with a statistically significant difference(P＜0.05).The LDL-C levels in the intervention group at 1-,3-,and 6-month after the intervention were lower than those in the control group,with statistically significant differences(P＜0.05).There were no statistically significant differences in TG levels between the intervention group and the control group at different time points after the intervention(P＞0.05).Conclusion The behavior change intervention pro-gram based on the multiple-theory model can effectively improve and maintain healthy behaviors and improve blood lipid levels in patients with dyslipidemic ischemic stroke.