北京大学学报（医学版）最新文献

{"title":"[Therapeutic effect of modified femoral neck osteotomy on the surgical treatment of ankylosing spondylitis with severe flexion deformity].","authors":"Qiwei Wang, Pengyu Bao, Shihao Hong, Xin Yang, Yu Wang, Yongping Cao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the efficacy of modified femoral neck osteotomy (mFNO) in the surgical treatment of patients with ankylosing spondylitis (AS) and severe spinal kyphosis combined with hip flexion contracture.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 61 AS patients (103 hips) with spinal kyphosis and hip flexion contracture who underwent pedicle subtraction osteotomy (PSO) and total hip arthroplasty (THA) from January 1, 2019 to November 15, 2023. Data on mFNO operation time, blood loss, preoperative and postoperative values of the angle of the trunk and lower limb (ATL), hip passive range of motion (ROM), visual analogue scale (VAS), and incidence of in-hospital complications were recorded. Statistical analysis was performed using paired-samples <i>t</i> test. <i>P</i> < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>The study ultimately included 10 cases, 9 males and 1 female, with an average age of (41.30±9.03) years. These patients underwent surgery for a total of 52 times, including 19 hips both receiving mFNO and THA, and 14 times PSO. The average operation time for nine bilateral mFNO was (133.11±34.81) min, with blood loss of (433.33±187.10) mL. A unilateral mFNO took 60 min with 200 mL of blood loss. The preoperative ATL of 19 hips was 40.37°±13.66°, and the postoperative ATL value was 88.47°±12.46° (<i>P</i> < 0.05). The preoperative VAS score was 0, while the postoperative VAS score was 5.95±1.51 (<i>P</i> < 0.05). The preoperative hip extension ROM was 37.37°±18.13°, while the postoperative hip extension ROM was -4.95°±21.24° (<i>P</i> < 0.05). Hip flexion ROM improved from 37.37°±18.13° to 50.79°±20.36° after FNO (<i>P</i> < 0.05). There were three cases of in-hospital complications (3/52, 5.67%): One case of postoperative atelectasis following PSO (1/52, 1.92%), one greater trochanter fracture identified during THA (1/52, 1.92%), and one early dislocation post-THA (1/52, 1.92%).</p><p><strong>Conclusion: </strong>mFNO significantly improves the ATL in AS patients with severe spinal kyphosis combined with hip flexion contracture, facilitating PSO and THA surgeries.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"884-889"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Epidemiological characteristics of hemorrhoids in a healthy physical examination population in China].","authors":"Chenghua Guo, Xiaoyu Che, Zhi Lin, Shan Cai, Guozhen Liu, Lang Pan, Jun Lv, Liming Li, Sailimai Man, Bo Wang, Canqing Yu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To describe the epidemiological distribution of hemorrhoids in a physical examination population in China, which could provide evidence for precision prevention and early intervention of hemorrhoids.</p><p><strong>Methods: </strong>Chinese subjects over 18 years of age who underwent a physical examination in a nationwide chain of physical examination centers in 2018 were studied in a cross-sectional design, which collected information by a questionnaire and physical examination results from each subject. The epidemiological distribution of hemorrhoids was described using Logistic models. The gender-, age-, and region-detection rates of hemorrhoids were standardized to the Sixth National Population Census of the People's Republic of China (2010).</p><p><strong>Results: </strong>A total of 2 940 295 adult subjects were included in the study, of whom the average age was (41.7±14.0) years, and 52.6% were females. The standardized detection rate of hemorrhoids was higher for females (43.7%) than that for males (17.7%; <i>P</i> < 0.001) in this study. In the females, the age distribution of hemorrhoids was inverted U-shaped, with the highest standardized detection rate of hemorrhoids in the age group of 30-39 years (63.5%). In the males, the standardized detection rate of hemorrhoids increased along with age, with the highest percentage of 17.2% in the age group of 50-59 years, and the standardized detection rate of hemorrhoids in the age group of 60 and above decreased slightly (<i>P</i> < 0.001 for trend test). The participants with hypertension had a higher standardized detection rate of hemorrhoids than those with normal blood pressure in both males and females (<i>P</i> < 0.001). The standardized detection rate of hemorrhoids showed a positive correlation with body mass index (<i>P</i> < 0.001 for trend test in males).</p><p><strong>Conclusion: </strong>The detection rate of hemorrhoids varied to gender, age, obesity, and hypertension status, which could help to identify the risk factors and the high-risk sub-groups, and hence to strengthen health education and early detection accordingly, which could eventually reduce the incidence of hemorrhoids and improve the quality of life and health in the Chinese population. This study was conducted in a physical examination population, and the conclusions of this study should be extrapolated with caution.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"815-819"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Diagnosis and treatment of gastrointestinal bleeding after kidney transplantation].","authors":"Handong Ding, Qin Wang, Guiyi Liao, Zongyao Hao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical characteristics of acute and chronic gastrointestinal bleeding in patients with end-stage renal disease (ESRD) after kidney transplantation, to improve the understanding of the causes, diagnosis, treatment and prevention of this complication, and to improve the management of patients with gastrointestinal bleeding after kidney transplantation.</p><p><strong>Methods: </strong>The clinical, imaging and pathological data of patients with gastrointestinal bleeding after kidney transplantation in the Department of Urology of The First Affiliated Hospital of Anhui Medical University from August, 2015 to December, 2020 were collected. The etiology, early clinical manifestations, abnormal laboratory tests and examinations, treatment procedures, late prevention and treatment measures and outcomes of gastrointestinal bleeding were retrospectively studied, and the relevant literature was summarized and reviewed.</p><p><strong>Results: </strong>A total of 17 patients were included in this study. Nine patients had chronic small amount of bleeding, hemoglobin gradually decreased, melena and fecal occult blood positive in the early stage, and the general condition was good, vital signs were stable, and were cured by drug treatment. Gastroscopy showed small ulcers with active bleeding foci in 2 cases, and the bleeding was stopped by titanium clips, and the prognosis was good. Gastroscopy showed that the anterior wall longitudinal ulcer at the junction of gastric antrum body was not effective in 1 case, and the small branch of right gastroepithelial artery was embolized, and the patient recovered and discharged after 2 weeks. Gastroscopy showed deep pit ulcer at the lesser curvature of gastric antrum in 1 patient, who underwent distal gastroduodenal artery embolization and had a good prognosis. Gastroscopy showed huge multiple ulcers in the stomach and duodenal bulb in 2 patients, who underwent subtotal gastrectomy and partial duodenectomy, duodenal stump exclusion and remnant gastrojejunostomy. One patient recovered and was discharged, and the other patient died of rebleeding on the 12th day after surgery. Two cases of diverticulum underwent surgical resection of diverticulum, and the prognosis was good.</p><p><strong>Conclusion: </strong>The onset of gastrointestinal hemorrhage in kidney transplant patients is insidious, and the condition is acute or slow, which can cause different degrees of damage to the patient and the transplanted kidney. Active prevention, early diagnosis, timely drug treatment, if the effect is not good, decisive endoscopic titanium clip hemostasis, transvascular interventional embolization, and even surgical treatment can minimize the harm of gastrointestinal bleeding.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"902-907"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Nutritional status and influencing factors of breast milk vitamin A among lactating women in three regions of Chin].","authors":"Jing Qin, Yubo Zhou, Hongtian Li, Ying Meng, Jianmeng Liu","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To evaluate the nutritional status of vitamin A (VitA) in breast milk and its influencing factors among lactating women in the Weihai, Yueyang, and Baotou of China.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;From May to July 2014, 403 lactating mothers at (42±7) d postpartum were recruited from three Chinese cities, Weihai in Shandong Province, Yueyang in Hunan Province, and Baotou in Inner Mongolia. Basic information of lactating women and newborns and fish intake information of the lactating women in the last month were collected. The concentration of retinol in breast milk was collected and measured using high-performance liquid chromatography to determine the levels of VitA. According to the breast milk retinol concentration, the nutritional status of breast milk VitA among the lactating women was divi-ded into deficiency (&lt; 1.05 μmol/L) and sufficient (≥1.05 μmol/L). The multivariate quantile regression was used to calculate the adjusted breast milk retinol concentrations. The Kruskal-Wallis &lt;i&gt;H&lt;/i&gt; test and the Mann-Whitney &lt;i&gt;U&lt;/i&gt; test were used to test the difference of breast milk retinol concentration according to the characteristics of the lactating women. The Logistic regression was used to analyze the effect of characteristics of lactating women on breast milk VitA deficiency.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The &lt;i&gt;M&lt;/i&gt; (&lt;i&gt;P&lt;/i&gt;&lt;sub&gt;25&lt;/sub&gt;, &lt;i&gt;P&lt;/i&gt;&lt;sub&gt;75&lt;/sub&gt;) of breast milk retinol concentration among the Chinese lactating women was 1.15 (0.83, 1.49) μmol/L. Multivariate analysis showed that the adjusted breast milk retinol concentration was related to the regions, maternal age, ethnicity, education levels, body mass index (BMI), parity, gestational age, delivery modes, breastfeeding practice, fish intake and birth weight of the infants. The prevalence of VitA deficiency in breast milk among all the lactating women was 41.9%. In Weihai, Yueyang, and Baotou, the prevalence rates were 34.8%, 39.6%, and 51.5%, respectively. Compared with the women in Weihai, the adjusted &lt;i&gt;OR&lt;/i&gt; for breast milk VitA deficiency among the women in Baotou was 1.75 (95%&lt;i&gt;CI&lt;/i&gt;: 1.05-2.92). Compared with the women having college and above education, the adjusted &lt;i&gt;OR&lt;/i&gt; for breast milk VitA deficiency among those having junior high school and below education were 2.16 (95%&lt;i&gt;CI&lt;/i&gt;: 1.10-4.24). Compared with women with low fish intake, the adjusted &lt;i&gt;OR&lt;/i&gt; for breast milk VitA deficiency among those with high fish intake were 0.55 (95%&lt;i&gt;CI&lt;/i&gt;: 0.36-0.84).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The prevalence of breast milk VitA deficiency among the Chinese lactating women was 41.9%, suggesting that breast milk VitA deficiency in lactating women and inadequate VitA intake for infants were common in China. The women in Baotou, low educational status and low fish intake increased the risk of breast milk VitA deficiency, suggesting that attention should be paid to the nutritional status of lactating women in underdeveloped reg","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"794-801"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Construction and validation of a nomogram for predicting in-hospital postoperative heart failure in elderly patients with hip fracture].","authors":"Yuanmei Liu, Yicheng Fu, Jingxin Hao, Fuchun Zhang, Huilin Liu","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To construct and validate a nomogram for prediction of in-hospital postoperative heart failure (PHF) in elderly patients with hip fracture.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This was a retrospective cohort study. The patients aged ≥65 years undergoing hip fracture surgery in Peking University Third Hospital from July 2015 to December 2023 were enrolled. The patients admitted from July 2015 to December 2021 were divided into a development cohort, and the others admitted from January 2022 to December 2023 in to a validation cohort. The patients ' clinical data were collected from the electronic medical record system. Univariate and multivariate Logistic regression were employed to screen the predictors for PHF in the patients. The R software was used to construct a nomogram. Internal and external validation were performed by the Bootstrap method. The discriminatory ability of the model was determined by the area under the receiver operating characteristic curve (AUC). The calibration was evaluated by the calibration plot and Hosmer-Lemeshow goodness-of-fit test. Decision curve analysis (DCA) was performed to assess the clinical utility.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;In the study, 944 patients were eventually enrolled in the development cohort, and 469 were in the validation cohort. A total of 54 (5.7%) patients developed PHF in the deve-lopment cohort, and 18 (3.8%) patients had PHF in the validation cohort. Compared with those from non-PHF group, the patients from PHF group were older, had higher prevalence of heart disease, hypertension and pulmonary disease, had poorer American Society of Anesthesiologists (ASA) classification (Ⅲ-Ⅳ), presented with lower preoperative hemoglobin level, lower left ventricular ejection fraction, higher preoperative serum creatinine, received hip arthroplasty and general anesthesia more frequently. Multivariate Logistic regression analysis showed that age (&lt;i&gt;OR&lt;/i&gt;=1.071, 95%&lt;i&gt;CI&lt;/i&gt;: 1.019-1.127, &lt;i&gt;P&lt;/i&gt;=0.008), history of heart disease (&lt;i&gt;OR&lt;/i&gt;=5.360, 95%&lt;i&gt;CI&lt;/i&gt;: 2.808-10.234, &lt;i&gt;P&lt;/i&gt; &lt; 0.001), preoperative hemoglobin level (&lt;i&gt;OR&lt;/i&gt;=0.979, 95%&lt;i&gt;CI&lt;/i&gt;: 0.960-0.999, &lt;i&gt;P&lt;/i&gt;=0.041), preoperative serum creatinine (&lt;i&gt;OR&lt;/i&gt;=1.007, 95%&lt;i&gt;CI&lt;/i&gt;: 1.001-1.013, &lt;i&gt;P&lt;/i&gt;=0.015), hip arthroplasty (&lt;i&gt;OR&lt;/i&gt;=2.513, 95%&lt;i&gt;CI&lt;/i&gt;: 1.259-5.019, &lt;i&gt;P&lt;/i&gt;=0.009), and general anesthesia (&lt;i&gt;OR&lt;/i&gt;=2.024, 95%&lt;i&gt;CI&lt;/i&gt;: 1.053-3.890, &lt;i&gt;P&lt;/i&gt;=0.034) were the independent predictors for PHF in elderly patients with hip fracture. Four preoperative predictors were incorporated to construct a preoperative nomogram for PHF in the patients. The AUC values of the nomogram in internal and external validation were 0.818 (95%&lt;i&gt;CI&lt;/i&gt;: 0.768-0.868) and 0.873 (95%&lt;i&gt;CI&lt;/i&gt;: 0.805-0.929), indicating its good accuracy. The calibration plots and Hosmer-Lemeshow goodness-of-fit test (internal validation: &lt;i&gt;χ&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt;=9.958, &lt;i&gt;P&lt;/i&gt;=0.354; external validation: &lt;i&gt;χ&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt;=5.477, &lt;i&gt;P&lt;/i&gt;=0","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"874-883"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The role and its regulatory significance of interleukin-25 in ovalbumin induced atopic dermatitis of mice].","authors":"Jiang Jin, Xue Chen, Yan Zhao, Jun Jia, Jianzhong Zhang","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To investigate the effect of interleukin-25 (IL-25) on ovalbumin (OVA) induced atopic dermatitis of mice, and the significance of regulating IL-25.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;In this study, 90 healthy male 6-week-old specific pathogen free (SPF) BALB/c mice were divided into 6 groups (15 in each group): ① subcutaneous injection of phosphate buffered saline (PBS) group (normal control group); ② subcutaneous injection of mouse IL-25 group (IL-25 group); ③ subcutaneous injection of anti-mouse IL-25 monoclonal antibody (anti-IL-25 group), each group received subcutaneous injection once a day for 1 week, 2 weeks apart, repeated daily subcutaneous injections for 1 week, 2 weeks apart, and repeated daily subcutaneous injections for 1 week, for a total of 7 weeks; ④ OVA treated group (model group); ⑤ OVA treated and IL-25 subcutaneous injection group (IL-25 treated dermatitis group); ⑥ OVA treated and anti-mouse IL-25 monoclonal antibody injection group (anti-IL-25 treated dermatitis group). The ⑤ and ⑥ groups in the process of treatment with OVA, IL-25 or anti-IL-25 antibody were given in the same way as the ② and ③ groups. Scratching behavior and skin performance of the mice were recorded during the seven-week-treatment. Twenty four hours after the final treatment, blood was taken from the mouse heart, and the serum was separated to detect the total IgE, IL-4, IL-5, IL-13, &lt;i&gt;etc&lt;/i&gt;. The skin samples of the treatment sites were used for hematoxylin-eosin (HE) staining, immunohistochemistry, real-time PCR and Western blot detections. A single factor (ANOVA) analysis of variance was used to compare the differences in various indicators between the groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The frequency of scratches in the IL-25 treated dermatitis group was higher than that in the model group, and the scratching behavior of the anti-IL-25 treated dermatitis group was significantly lower than that in the model group. The appearance of atopic dermatitis, thickening of the epidermis and the degree of dermal inflammation in the IL-25 treated dermatitis group were more serious than those in the model group and the anti-IL-25 treated dermatitis group. The levels of serum IgE, IL-4, IL-5, and IL-13 in the IL-25 treated dermatitis group were significantly higher than that in the model group and the anti-IL-25 treated dermatitis group. There were significantly more CD4&lt;sup&gt;+&lt;/sup&gt; T cells in the dermis of IL-25 treated dermatitis group than that in the anti-IL-25 treated dermatitis group. The expression levels of filaggrin and defensin β2 proteins in the IL-25 treated dermatitis group were significantly lower than those in the model group and the anti-IL-25 treated dermatitis group.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;In the OVA induced atopic dermatitis mice model, IL-25 can significantly promote the damage of the epidermal barrier function and aggravate the OVA-induced dermatitis. Antagonizing IL-25 can alleviate OVA induced der","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"756-762"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Single nucleotide polymorphism heritability of non-syndromic cleft lip with or without cleft palate in Chinese population].","authors":"Enci Xue, Xi Chen, Xueheng Wang, Siyue Wang, Mengying Wang, Jin Li, Xueying Qin, Yiqun Wu, Nan Li, Jing Li, Zhibo Zhou, Hongping Zhu, Tao Wu, Dafang Chen, Yonghua Hu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To delve into the intricate relationship between common genetic variations across the entire genome and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P).</p><p><strong>Methods: </strong>Utilizing summary statistics data from genome-wide association studies (GWAS), a thorough investigation to evaluate the impact of common variations on the genome were undertook. This involved assessing single nucleotide polymorphism (SNP) heritability across the entire genome, as well as within specific genomic regions. To ensure the robustness of our analysis, stringent quality control measures were applied to the GWAS summary statistics data. Criteria for inclusion encompassed the absence of missing values, a minor allele frequency ≥1%, <i>P</i>-values falling within the range of 0 to 1, and clear SNP strand orientation. SNP meeting these stringent criteria were then meticulously included in our analysis. The SNP heritability of NSCL/P was calculated using linkage disequilibrium score regression. Additionally, hierarchical linkage disequilibrium score regression to partition SNP heritability within coding regions, promoters, introns, enhancers, and super enhancers were employed, and the enrichment levels within different genomic regions using LDSC (v1.0.1) software were further elucidated.</p><p><strong>Results: </strong>Our study drew upon GWAS summary statistics data obtained from 806 NSCL/P trios, comprising a total of 2 418 individuals from the Chinese population. Following rigorous quality control procedures, 490 593 out of 492 993 SNP were deemed suitable for inclusion in SNP heritability calculations. The observed SNP heritability of NSCL/P was 0.55 (95%<i>CI</i>: 0.28-0.82). Adjusting for the elevated disease pre-valence within our sample, the SNP heritability scaled down to 0.37 (95%<i>CI</i>: 0.19-0.55) based on the prevalence observed in the general Chinese population. Notably, our enrichment analysis unveiled significant enrichment of SNP heritability within enhancer regions (15.70, <i>P</i>=0.04) and super enhancer regions (3.18, <i>P</i>=0.03).</p><p><strong>Conclusion: </strong>Our study sheds light on the intricate interplay between common genetic variations and the risk of NSCL/P in the Chinese population. By elucidating the SNP heritability landscape across different genomic regions, we contribute valuable insights into the genetic basis of NSCL/P. The significant enrichment of SNP heritability within enhancer and super enhancer regions underscores the potential role of these regulatory elements in shaping the genetic susceptibility to NSCL/P. This paves the way for further research aimed at uncovering novel genetic pathogenic factors underlying NSCL/P pathogenesis.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"775-780"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Rheumatoid arthritis with Castleman-like histopathology in lymph nodes: A case report].","authors":"Dongwu Liu, Jie Chen, Mingli Gao, Jing Yu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a common chronic autoimmune inflammatory disease, characterized by persistent polyarthritis. Patients with RA may exhibit varying degrees of B lymphocyte activation, clinically manifested as enlarged lymph nodes. Disease-modifying anti-rheumatic drugs and glucocorticoid are often used to treat RA. Biological agents targeting tumor necrosis factor alpha, interleukin-6(IL-6), and B lymphocytes are often used to treat rheumatoid arthritis. Castleman disease (CD) is a rare benign lymphoproliferative disorder. Histopathological examination is the most important method to diagnose this disease. Based on the different lymph node involvement areas CD can be divided into unicentric CD(UCD) and multicentric CD(MCD). Surgical removal of lymph nodes is a common treatment method for UCD. MCD often requires chemotherapeutic drugs combined with glucocorticoid therapy. For the most recent years, biological agents targeting IL-6 and B lymphocytes have shown good curative effects on CD. In the past, patients with rheumatic immune disease accompanied by Castleman like histopathology in lymph nodes were commonly referred to as rheumatic immune disease combined with CD. In 2021, experts unanimously agreed that autoimmune diseases with Castleman like lymphadenopathy should be diagnosed as rheumatic autoimmune diseases with Castleman like histopathology in lymph nodes. This report introduces a 65-year-old female patient with rheumatoid arthritis who was admitted to the hospital due to joint swelling and pain. Physical and chemical examinations after admission showed that rheumatoid arthritis was in an active phase. Chest CT revealed multiple enlarged lymph nodes in the right armpit. Then it was removed by surgery. The histopathological report showed that the lymphatic sinus disappeared, the lymphoid tissue proliferated, the lymphoid follicles increased, and the size was inconsistent. The small lymphocytes around the germinal centers of some follicles were concentric circles, and the follicular interstitial blood vessels proliferated. She was diagnosed with rheumatoid arthritis with Castleman like histopathology in lymph nodes and was treated with methotrexate and hydroxychloroquine sulfate combined with glucocorticoids. The patient was followed up for 2 years. In the first year after sur-gery, the patient' s condition remained stable and there was no growth of lymph nodes in the right axilla. The patient passed away due to severe infection in the second year after the surgery.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"928-931"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].","authors":"Xianru Jiao, Pan Gong, Yue Niu, Zhao Xu, Zongpu Zhou, Zhixian Yang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).</p><p><strong>Methods: </strong>A total of 75 PDE patients with <i>ALDH7A1</i> variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE patients with the phenotype of IESS were selected. The clinical manifestations, treatment, blood biochemistry, metabolic screening, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), and gene testing results of the five PDE patients were analyzed.</p><p><strong>Results: </strong>Among the five patients diagnosed with PDE, three were female and two were male, and the phenotype was consistent with IESS. The age at the last follow-up was from one year and 3 months to 11 years and 9 months. All the five cases were delivered at term. Two cases had anoxia and asphyxia at birth, and three cases had normal birth history. The onset age of seizure ranged from one day to 4 months after birth. One case presented with epileptic spasms (ES), and three cases presented with focal seizure and ES. The other patient was started with ES, followed by multiple seizure types, including focal seizure and generalized tonic-clonic seizure, and developed epileptic status which caused secondary brain injury. The interictal EEG results showed hypsarrhythmia in three cases, generalized and multifocal discharges in one cases, and multifocal discharges in one case. No abnormalities were found in brain MRI in three cases, and secondary cerebral atrophy and hydrocephalus were observed in two cases during the course of the disease. Gene analysis confirmed that the five patients carried compound heterozygous variants of <i>ALDH7A1</i>, and two of them carried exon deletion variants. High dose pyridoxine treatment started at the end of 2 days, 4 years, 3 years, 4 days. and 2 months after the onset of the disease. Up to the last follow-up, seizures of four cases were controlled, followed by normal EEG. One patient with brain atrophy had uncontrolled seizures and EEG remained abnormal. The neurodevelopment of the three patients were severely delayed, and two were mildly delayed.</p><p><strong>Conclusion: </strong>IESS could be a rare phenotype of PDE. High doses of pyridoxine can control or reduce the frequency of seizures. Delayed diagnosis and treatment, secondary brain injury, and the genotype, especially deletions variants, were associated with poor prognosis.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"781-787"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Optimization study of an animal model for interstitial cystitis/bladder pain syndrome based on the dose effect of cyclophosphamide].","authors":"Hanwei Ke, Qi Wang, Kexin Xu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the efficacy of cyclophosphamide (CYP) at different doses in replicating the symptoms of interstitial cystitis/bladder pain syndrome (IC/BPS) in an animal model, thereby providing an experimental basis for understanding the pathophysiology of IC/BPS and assessing treatment strategies.</p><p><strong>Methods: </strong>Twenty-eight female Sprague-Dawley rats aged seven weeks were divided into four groups: Group a (25 mg/kg CYP), group b (75 mg/kg CYP), group c (125 mg/kg CYP), and group d (a control group). The rats were injected intraperitoneally with either CYP or saline solution. Evaluations included urine spot tests, von Frey filament pain threshold tests, urodynamic examinations, and histological assessments.</p><p><strong>Results: </strong>The study found that the 25 mg/kg CYP dosage significantly outperformed higher doses in simulating bladder dysfunction and inflammatory responses while minimizing the impact on the rats' physiological functions. Specifically, urine spot area, group a showed a significant reduction in urine spot area compared with the control group (<i>P</i> < 0.05), while groups b and c did not show significant differences. Pain threshold: The von Frey filament test indicated increased visceral pain in group a, aligning closely with IC/BPS patient symptoms, without a significant increase in urination frequency. Urodynamic assessments: Group a exhibited decreased bladder compliance and reduced maximum bladder capacity (<i>P</i> < 0.05), with no significant differences in baseline bladder pressure and maximum detrusor pressure across all groups. Histological analysis: Hematoxylin-eosin (HE) staining revealed that bladder tissue in group a had moderate inflammatory reactions, whereas groups b and c showed severe inflammation and tissue damage, correlating with the higher doses of CYP. Furthermore, the urine spot tests and von frey filament tests provided quantitative data supporting the model's reliability, urine spot count, group a had an average urine spot count of (15±3) spots, significantly higher than the control group's (5±2) spots (<i>P</i> < 0.01). Nociceptive score: Group a nociceptive score increased to 0.5±0.1, indicating heightened pain sensitivity compared with the control group 0.10±0.05 (<i>P</i> < 0.01).</p><p><strong>Conclusion: </strong>The 25 mg/kg CYP demonstrated significant advantages in simulating the key features of non-ulcerative IC/BPS, summarizing the main aspects of the human condition, including persistent visceral pain and mild inflammatory reactions in bladder tissue. These findings offer substantial experimental support for drug development and treatment research in IC/BPS and provide new insights into the complex patho-physiology of the disease.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报（医学版）","volume":"56 5","pages":"908-912"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}