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[Efficacy of coated metal ureteral stent in the treatment of pelvic lipomatosis induced hydronephrosis]. [涂层金属输尿管支架治疗盆腔脂肪瘤引起的肾积水的疗效]。
Q3 Medicine Pub Date : 2024-10-18
Mingrui Wang, Qi Wang, Hao Hu, Jinhui Lai, Xinwei Tang, Chunyan Wan, Kexin Xu, Tao Xu

To investigate the initial experience of coated metal ureteral stent (CMUS) for treatment of pelvic lipomatosis induced hydronephrosis (PLH). The clinical and follow-up data of 8 patients who were diagnosed as PLH treated with CMUS in Peking University People's Hospital from August 2018 to February 2021 were retrospectively analyzed. Inclusion criteria included: Imaging evidence of excessive adipose tissue around the bladder in the pelvic cavity, bladder elevation in an "inverted pear shape", and bladder wall thickening; Cystoscopy indicated follicular hyperplasia of bladder mucosa and biopsy pathology indicated glandular cystitis; Unilateral or bilateral hydronephrosis and ureteromegaly. Exclusion criteria included: Ureteral atresia; Recurrent obstruction of the bladder outlet. Preoperative baseline data included age, gender, serum creatinine, pelvis width and ureteric stent symptoms questionnaire (USSQ) score. Intraoperative data included the location and length of ureteral stenosis observed by retrograde urography. Postoperative follow-up data included serum creatinine, pelvis width, and USSQ score. In the study, 8 patients (11 sides) with PLH were all male, with an average age of (38.7±8.6) years. Unilateral hydronephrosis was found in 5 cases and bilateral hydronephrosis in 3 cases. Preoperative mean serum creatinine was (90.0±10.3) μmol/L, and the mean renal pelvis width was (3.0±1.5) cm. The lower ureteral stricture was found in all cases, and the mean stricture length was (1.9±0.9) cm. Before operation, 3 patients had ureteral Double-J stents, with USSQ scores of 97.0, 68.0 and 100.0, respectively. Five patients underwent retrograde CMUS stenting, and 3 patients retrograde and antegrade. At the last follow-up, the average serum creatinine was (82.0±11.1) μmol/L and the mean renal pelvis width was (1.9±0.5) cm, which were significantly lower than those before operation (t=3.12, P=0.02; t=3.23, P=0.02). In the 3 patients with Double-J stent before surgery, the USSQ scores were 87.0, 62.0 and 89.0, respectively, which were significantly improved after CMUS stenting. The average follow-up time was (10.0±6.3) months. During the follow-up, 1 patient developed CMUS related symptoms, and no stent-associated infection and stent encrustation were found. In one case, the stent migrated to the bladder 3 months after operation, and the hydronephrosis disappeared after 3 months follow-up. CMUS stenting for treatment of PLH has certain efficacy and safety, which can explore a new therapeutic method for the long-term treatment of PLH.

目的 探讨涂层金属输尿管支架(CMUS)治疗盆腔脂肪瘤病诱发肾积水(PLH)的初步经验。回顾性分析2018年8月至2021年2月在北京大学人民医院接受CMUS治疗的8例确诊为PLH患者的临床和随访资料。纳入标准包括影像学显示盆腔内膀胱周围脂肪组织过多,膀胱隆起呈 "倒梨形",膀胱壁增厚;膀胱镜检查提示膀胱黏膜滤泡增生,活检病理提示腺性膀胱炎;单侧或双侧肾积水、输尿管肿大。排除标准包括输尿管闭锁;膀胱出口复发性梗阻。术前基线数据包括年龄、性别、血清肌酐、肾盂宽度和输尿管支架症状问卷(USSQ)得分。术中数据包括逆行尿路造影观察到的输尿管狭窄位置和长度。术后随访数据包括血清肌酐、肾盂宽度和 USSQ 评分。研究中,8 例 PLH 患者(11 侧)均为男性,平均年龄为(38.7±8.6)岁。其中 5 例为单侧肾积水,3 例为双侧肾积水。术前平均血清肌酐为(90.0±10.3)μmol/L,平均肾盂宽度为(3.0±1.5)cm。所有病例均发现输尿管下端狭窄,平均狭窄长度为(1.9±0.9)厘米。术前,3 例患者使用了输尿管双 J 支架,USSQ 评分分别为 97.0、68.0 和 100.0。5 名患者接受了逆行 CMUS 支架植入术,3 名患者接受了逆行和前行支架植入术。最后一次随访时,平均血清肌酐为(82.0±11.1)μmol/L,平均肾盂宽度为(1.9±0.5)cm,均明显低于术前(t=3.12,P=0.02;t=3.23,P=0.02)。术前使用双J支架的3例患者的USSQ评分分别为87.0分、62.0分和89.0分,CMUS支架术后评分明显提高。平均随访时间为(10.0±6.3)个月。随访期间,1 例患者出现 CMUS 相关症状,未发现支架相关感染和支架包壳。1例患者在术后3个月支架移位至膀胱,随访3个月后肾积水症状消失。CMUS支架治疗PLH具有一定的疗效和安全性,可为PLH的长期治疗探索一种新的治疗方法。
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引用次数: 0
[Path analysis of influencing factors of mental resilience in adolescents with depression]. [青少年抑郁症患者心理复原力影响因素的路径分析]。
Q3 Medicine Pub Date : 2024-10-18
Min Wang, Qian Li

Objective: To discuss the influencing factors of mental resilience in adolescents with depression, and to analyze the interaction between them by using path analysis, in order to determine the reasonable prevention and treatment measures for clinical practice and provide reference for the study of mental resilience in adolescents with depression.

Methods: This survey adopted cross-sectional study and convenience sampling method. General information questionnaire, Connor-Davidson resilience scale (CD-RISC), family assessment device (FAD) and social support rating scale (SSRS) were used to investigate the general information, mental resilience level, family function and social support level of 162 adolescents with depression in Jiaozuo Fourth People ' s Hospital. Multiple linear regression was used to analyze the influencing factors of mental resilience in adolescents with depression. Structural equation model was established by Amos 22.0 software to analyze the influencing factors.

Results: (1) The total score of CD-RISC and the scores of toughness, strength and optimism in adolescents with depression were lower than the domestic norm (P < 0.05). (2) The results of multiple linear regression showed that weight, childhood trauma experience, family structure, family function, parental rearing style, parental marital status, social support and depression degree were the influencing factors of psychological resilience of adolescents with depression (P < 0.05). (3) The model showed that weight, childhood trauma experience, family structure, family function and social support had direct effects on the mental resilience of adolescents with depression, and also had indirect effects on the mental resilience of adolescents with depression through the degree of depression (P < 0.05).

Conclusion: In this study, we found that weight, childhood trauma experience, social support, depression degree and other factors have an effect on the psychological resilience of adolescents with depression. We suggest that school administrators increase the class time and course content of physical education courses, improve the mental health service system, strengthen mental health services for key groups, and formulate corresponding topics for timely counseling. At the same time, encourage them to actively participate in social practice activities, enhance self-confidence, and thus help to improve the level of psychological resilience of adolescents with depression.

目的探讨青少年抑郁症患者心理复原力的影响因素,并运用路径分析法分析各因素之间的相互作用,从而为临床实践确定合理的防治措施,为青少年抑郁症患者心理复原力的研究提供参考:本次调查采用横断面研究和方便抽样法。采用一般资料问卷、康纳-戴维森复原力量表(CD-RISC)、家庭评定量表(FAD)和社会支持评定量表(SSRS)对焦作市第四人民医院162名抑郁症青少年的一般资料、心理复原力水平、家庭功能和社会支持水平进行调查。采用多元线性回归分析抑郁症青少年心理复原力的影响因素。结果:(1)抑郁症青少年的 CD-RISC 总分及韧性、力量和乐观得分均低于国内常模(P<0.05)。(2)多元线性回归结果显示,体重、童年创伤经历、家庭结构、家庭功能、父母抚养方式、父母婚姻状况、社会支持和抑郁程度是抑郁症青少年心理复原力的影响因素(P<0.05)。(3)模型显示,体重、童年创伤经历、家庭结构、家庭功能和社会支持对抑郁青少年的心理复原力有直接影响,同时通过抑郁程度对抑郁青少年的心理复原力有间接影响(P<0.05):本研究发现,体重、童年创伤经历、社会支持、抑郁程度等因素对抑郁青少年的心理复原力有影响。我们建议学校管理者增加体育课的课时和课程内容,完善心理健康服务体系,加强对重点人群的心理健康服务,并制定相应的主题及时进行心理辅导。同时,鼓励他们积极参加社会实践活动,增强自信心,从而有助于提高抑郁症青少年的心理承受能力水平。
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引用次数: 0
[Effects of unilateral thoracic paravertebal block on hemodynamic and the level of conscionsness during double lumen endotracheal intubation]. [单侧胸椎旁阻滞对双腔气管插管时血液动力学和意识水平的影响]。
Q3 Medicine Pub Date : 2024-10-18
Jun Wang, Lan Yao, Ning Zhang, Libin Suo, Hongpei Li, Yue Wei, Peng Cha, Zheng Liang, Kunpeng Liu

Objective: To compare the effects of unilateral thoracic paravertebal block with lidocaine on hemodynamic and the level of consciousness during double lumen endotracheal intubation.

Methods: From June to october 2021, a total of 40 patients American Society of Anesthesiologists (ASA) physical status Ⅰ-Ⅱ, aged 19-65 years, scheduled for elective thoracic sugeries in Peking University International Hospital block with under general anesthesia requiring orotracheal intubation were recruited and divided into two groups: The double-lumen endobronchial intubation (group C) and double-lumen endobronchial intubation after thoracic paravertebal block with lidocaine (group P). After an intravenous anesthetic induction, the orotracheal double-lumen intubation was performed using a Macintosh direct laryngoscopy, respectively. Invasive blood pressure (BP) and heart rate (HR) were recorded before and after anesthetic induction, immediately after intubation and 5 min after intubation with 1-minute interval and the intubation time was also noted. Rate-pressure product (RPP) were calculated.

Results: After anesthetic induction, BP and RPP in the two groups decreased significantly compared with their preinduction values. As comparison with their postinduction values, the orotracheal intubation in the two groups caused significant increases in BP, HR and RPP. Diastolic blood pressure (DBP) and mean arterial pressure (MAP) increased significantly and lasted for 1-minute in group C compared with the baseline values. Systolic blood pressure (SBP) was not significant change and DBP increased significantly immediately after intubation in group P.HR of both groups after intubation were significantly higher than their baseline values and lasted for 4 min in group C, HR increased significantly immediately after intubation in group P. SBP, DBP, MAP, HR and RPP after intubation in group P were significantly lower than those of group C during the observation period. The value of BIS was similar between the two groups. Compared with group C, the incidence of SBP greater than 30% and RPP greater than 22 000 was significantly lower in group P in the observation period, and no patient in group P developed RPP greater than 22 000. At the end of the incidence of SBP less than 30% of the basal value and HR less than 30% of the baseline, no severe bradycardia occurred in both groups.

Conclusion: During double-lumen endobronchial intubation, unilateral thoracic paravertebal block with lidocaine can provide less hemodynamic response and level of conscionsness.

目的比较利多卡因单侧胸椎旁阻滞对双腔气管插管时血流动力学和意识水平的影响:方法:选取2021年6月至10月期间,在北京大学国际医院阻滞全麻下行择期胸腔镜手术的美国麻醉医师协会(ASA)体能状态Ⅰ-Ⅱ级患者40例,年龄19-65岁,分为两组:双腔支气管内插管组(C 组)和利多卡因胸椎旁阻滞后双腔支气管内插管组(P 组)。静脉麻醉诱导后,分别使用 Macintosh 直接喉镜进行气管双腔插管。在麻醉诱导前后、插管后立即和插管后 5 分钟(间隔 1 分钟)记录有创血压(BP)和心率(HR),并记录插管时间。计算速率-压力乘积(RPP):结果:麻醉诱导后,两组患者的血压和 RPP 与诱导前相比明显下降。与诱导后的数值相比,两组患者在气管插管后血压、心率和 RPP 均明显升高。与基线值相比,C 组的舒张压(DBP)和平均动脉压(MAP)明显升高并持续了 1 分钟。两组患者插管后的心率均明显高于基线值,C 组持续了 4 分钟,P 组插管后心率立即明显升高,在观察期间,P 组插管后的 SBP、DBP、MAP、HR 和 RPP 均明显低于 C 组。两组的 BIS 值相似。与 C 组相比,P 组在观察期内 SBP 大于 30% 和 RPP 大于 22 000 的发生率明显降低,且 P 组无患者出现 RPP 大于 22 000 的情况。在 SBP 小于基础值的 30% 和 HR 小于基础值的 30% 的发生率结束时,两组均未出现严重心动过缓:结论:在双腔支气管内插管过程中,使用利多卡因的单侧胸椎旁阻滞可提供较少的血流动力学反应和意识水平。
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引用次数: 0
[Diagnostic values of anti-salivary gland protein-1 antibody combined with anti-parotid secretory protein antibody for Sjögren's syndrome]. [抗唾液腺蛋白-1 抗体联合抗腮腺分泌蛋白抗体对斯约戈伦综合征的诊断价值]。
Q3 Medicine Pub Date : 2024-10-18
Yushu Yang, Xuan Qi, Meng Ding, Wei Wang, Huifang Guo, Lixia Gao
<p><strong>Objective: </strong>To assess the diagnostic value of anti-salivary gland protein-1 (SP1) antibody combined with anti-parotid secretory protein (PSP) antibody for Sjögren's syndrome (SS).</p><p><strong>Methods: </strong>A total of 60 patients with primary SS (pSS) who were treated in the outpatient and inpatient department of Department of Rheumatology and Immunology of the Second Hospital of Hebei Medical University from January 2020 to December 2022 were collected. Thirty patients with other autoimmune diseases accompanied by dry mouth and/or dry eyes were collected as disease control group. Thirty healthy subjects from the physical examination center were collected for healthy control group, serum samples were obtained from all of them. Their general features and clinical information including clinical manifestations, laboratory examinations and other examinations were recorded. The 2016 American College of Rheumatology (ACR)/European League against Rheumatism (EULAR) classification criteria were adopted as the diagnostic standard of pSS. Immunoglobulin G (IgG) subtype of anti-SP1 antibody and anti-PSP antibody were detected by chemiluminescence immunoassay. The receiver operating characteristic (ROC) curve was used to evaluate the accuracy of anti-SP1 antibody and anti-PSP antibody in diagnosing pSS.The cli-nical characteristics of anti-SP1 antibody and anti-PSP antibody positive patients and negative patients in pSS group were further compared. Independent samples <i>t</i> test, Mann-Whitney <i>U</i> test, variance analysis, Kruskal-Wallis test, Chi-square test or Fisher's exact test and Spearman correlation analysis were used for statistical analysis.</p><p><strong>Results: </strong>There was no significant difference in age (<i>F</i>=1.406, <i>P</i>=0.495) and gender (<i>χ</i><sup>2</sup>=2.105, <i>P</i>=0.349) among pSS group, disease control group and healthy control group. The expression levels of anti-SP1 antibody (<i>H</i>=16.73, <i>P</i> < 0.001) and anti-PSP antibody (<i>H</i>=26.09, <i>P</i> < 0.001) were statistically different among the three groups. An intergroup comparison of anti-SP1 antibody expression levels showed that there was a statistically significant difference between pSS and healthy control group (<i>P</i> < 0.001), but no statistically significant difference between the other groups. Comparison of anti-PSP antibody expression levels between the groups showed that there were statistically significant differences between pSS and healthy control group (<i>P</i> < 0.001), and between disease control group and healthy control group (<i>P</i>=0.009), while no statistically significant differences between the other groups. The positive rate of anti-SP1 antibody in pSS group was significantly higher than that in disease control group and healthy control group (58.33% <i>vs.</i> 40.00% <i>vs.</i> 13.33%, <i>P</i> < 0.001). The positive rate of anti-PSP antibody in pSS group was significantly higher than that in d
目的评估抗唾液腺蛋白-1(SP1)抗体联合抗腮腺分泌蛋白(PSP)抗体对SS(Sjögren's syndrome)的诊断价值:收集2020年1月至2022年12月在河北医科大学第二医院风湿免疫科门诊和住院治疗的原发性SS(pSS)患者共60例。收集30名伴有口干和/或眼干的其他自身免疫性疾病患者作为疾病对照组。从体检中心收集 30 名健康受试者作为健康对照组,所有受试者均获得血清样本。记录他们的一般特征和临床信息,包括临床表现、实验室检查和其他检查。采用 2016 年美国风湿病学会(ACR)/欧洲抗风湿联盟(EULAR)分类标准作为 pSS 的诊断标准。采用化学发光免疫测定法检测免疫球蛋白 G(IgG)亚型的抗-SP1抗体和抗-PSP抗体。采用接收者操作特征曲线(ROC)评价抗 SP1 抗体和抗 PSP 抗体诊断 pSS 的准确性,并进一步比较 pSS 组抗 SP1 抗体和抗 PSP 抗体阳性患者与阴性患者的临床特征。统计分析采用独立样本 t 检验、Mann-Whitney U 检验、方差分析、Kruskal-Wallis 检验、Chi-square 检验或 Fisher's 精确检验以及 Spearman 相关分析:pSS组、疾病对照组和健康对照组的年龄(F=1.406,P=0.495)和性别(χ2=2.105,P=0.349)差异无学意义。三组间抗SP1抗体(H=16.73,P<0.001)和抗PSP抗体(H=26.09,P<0.001)的表达水平有统计学差异。抗 SP1 抗体表达水平的组间比较显示,pSS 组与健康对照组之间的差异有统计学意义(P < 0.001),但其他组之间的差异无统计学意义。组间抗PSP抗体表达水平比较显示,pSS组与健康对照组之间差异有统计学意义(P<0.001),疾病对照组与健康对照组之间差异有统计学意义(P=0.009),其他组间差异无统计学意义。pSS 组抗 SP1 抗体阳性率明显高于疾病对照组和健康对照组(58.33% vs. 40.00% vs. 13.33%,P <0.001)。pSS 组抗 PSP 抗体阳性率(75.00% vs. 56.17% vs. 16.67%,P < 0.001)明显高于疾病对照组和健康对照组。抗 SP1 抗体的曲线下面积为 0.688(P < 0.001)。抗-SP1 抗体的敏感性和特异性分别为 58.33%(35/60)和 70.00%(42/60),抗-SP1 抗体的阳性预测值为 66.04%(35/53),阴性预测值为 54.55%(42/77)。抗 PSP1 抗体的曲线下面积为 0.720 (P < 0.001),灵敏度为 75.00%(45/60),特异度为 63.33%(38/60)。13 名 pSS 患者的抗 Sjögren's 综合征 A(SSA,包括 SSA52 和 SSA60)抗体和抗 Sjögren's 综合征 B(SSB)抗体均为阴性。其中,11 名患者的抗SP1 抗体和抗 PSP 抗体均呈阳性,1 名患者的抗SP1 抗体呈阳性,1 名患者的抗 PSP 抗体呈阳性。比较了 pSS 患者抗 SP1 抗体和抗 PSP 抗体阳性组和阴性组的临床特征。与阴性患者相比,抗SP1抗体阳性组的病程较短(Z=-2.277,P=0.023)。抗-PSP抗体阳性组患者比阴性组患者年轻(t=2.598,P<0.05),抗-PSP抗体阳性组的类风湿因子阳性率(P=0.002)和血清IgG水平(t=3.806,P=0.003)均高于阴性组。对 pSS 患者抗 SP1 抗体和抗 PSP 抗体之间的相关性分析表明,二者之间存在显著相关性(r=0.801,P<0.001):结论:抗SP1抗体和抗PSP抗体对诊断SS均有价值,抗SP1抗体有助于pSS的早期诊断。联合检测抗SP1抗体和抗PSP抗体有助于早期诊断抗SSA抗体和抗SSB抗体阴性的pSS患者。
{"title":"[Diagnostic values of anti-salivary gland protein-1 antibody combined with anti-parotid secretory protein antibody for Sjögren's syndrome].","authors":"Yushu Yang, Xuan Qi, Meng Ding, Wei Wang, Huifang Guo, Lixia Gao","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To assess the diagnostic value of anti-salivary gland protein-1 (SP1) antibody combined with anti-parotid secretory protein (PSP) antibody for Sjögren's syndrome (SS).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A total of 60 patients with primary SS (pSS) who were treated in the outpatient and inpatient department of Department of Rheumatology and Immunology of the Second Hospital of Hebei Medical University from January 2020 to December 2022 were collected. Thirty patients with other autoimmune diseases accompanied by dry mouth and/or dry eyes were collected as disease control group. Thirty healthy subjects from the physical examination center were collected for healthy control group, serum samples were obtained from all of them. Their general features and clinical information including clinical manifestations, laboratory examinations and other examinations were recorded. The 2016 American College of Rheumatology (ACR)/European League against Rheumatism (EULAR) classification criteria were adopted as the diagnostic standard of pSS. Immunoglobulin G (IgG) subtype of anti-SP1 antibody and anti-PSP antibody were detected by chemiluminescence immunoassay. The receiver operating characteristic (ROC) curve was used to evaluate the accuracy of anti-SP1 antibody and anti-PSP antibody in diagnosing pSS.The cli-nical characteristics of anti-SP1 antibody and anti-PSP antibody positive patients and negative patients in pSS group were further compared. Independent samples &lt;i&gt;t&lt;/i&gt; test, Mann-Whitney &lt;i&gt;U&lt;/i&gt; test, variance analysis, Kruskal-Wallis test, Chi-square test or Fisher's exact test and Spearman correlation analysis were used for statistical analysis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;There was no significant difference in age (&lt;i&gt;F&lt;/i&gt;=1.406, &lt;i&gt;P&lt;/i&gt;=0.495) and gender (&lt;i&gt;χ&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt;=2.105, &lt;i&gt;P&lt;/i&gt;=0.349) among pSS group, disease control group and healthy control group. The expression levels of anti-SP1 antibody (&lt;i&gt;H&lt;/i&gt;=16.73, &lt;i&gt;P&lt;/i&gt; &lt; 0.001) and anti-PSP antibody (&lt;i&gt;H&lt;/i&gt;=26.09, &lt;i&gt;P&lt;/i&gt; &lt; 0.001) were statistically different among the three groups. An intergroup comparison of anti-SP1 antibody expression levels showed that there was a statistically significant difference between pSS and healthy control group (&lt;i&gt;P&lt;/i&gt; &lt; 0.001), but no statistically significant difference between the other groups. Comparison of anti-PSP antibody expression levels between the groups showed that there were statistically significant differences between pSS and healthy control group (&lt;i&gt;P&lt;/i&gt; &lt; 0.001), and between disease control group and healthy control group (&lt;i&gt;P&lt;/i&gt;=0.009), while no statistically significant differences between the other groups. The positive rate of anti-SP1 antibody in pSS group was significantly higher than that in disease control group and healthy control group (58.33% &lt;i&gt;vs.&lt;/i&gt; 40.00% &lt;i&gt;vs.&lt;/i&gt; 13.33%, &lt;i&gt;P&lt;/i&gt; &lt; 0.001). The positive rate of anti-PSP antibody in pSS group was significantly higher than that in d","PeriodicalId":8790,"journal":{"name":"北京大学学报(医学版)","volume":"56 5","pages":"845-852"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485624","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}
引用次数: 0
[Biomechanics during cutting movement in individuals after anterior cruciate ligament reconstruction]. [前十字韧带重建术后个体切削运动的生物力学]。
Q3 Medicine Pub Date : 2024-10-18
Shuang Ren, Huijuan Shi, Zixuan Liang, Si Zhang, Xiaoqing Hu, Hongshi Huang, Yingfang Ao

Objective: To evaluate knee biomechanics of patients about 12 months after anterior cruciate ligament (ACL) reconstruction during cutting and determine the abnormal biomechanical characteristics.

Methods: Sixteen males about 12 months after ACL reconstruction were recruited for this study. Three-dimensional kinematic and kinetic data were collected during cutting movement. Knee joint angles and moments were calculated. Paired t-tests were used to compare the differences in knee biomechanics between the surgical leg and nonsurgical leg.

Results: The peak posterior ground reaction force (surgical leg: 0.380±0.071; nonsurgical leg: 0.427±0.069, P = 0.003) and vertical ground reaction force (surgical leg: 1.996±0.202, nonsurgical leg: 2.110±0.182, P = 0.001) were significantly smaller in the surgical leg than in the nonsurgical leg. When compared with the uninjured leg, the surgical leg demonstrated a smaller knee flexion angle (surgical leg: 38.3°± 7.4°; nonsurgical leg: 42.8°± 7.9°, P < 0.001) and larger external rotation angle (surgical leg: 10.3°± 2.4°; nonsurgical leg: 7.7°± 2.1°, P = 0.008). The surgical leg also demonstrated a smaller peak knee extension moment (surgical leg: 0.092 ± 0.031; nonsurgical leg: 0.133 ± 0.024, P < 0.001) and peak knee external rotation moment (surgical leg: 0.005 ± 0.004; nonsurgical leg: 0.008 ± 0.004, P = 0.015) when compared with the nonsurgical leg.

Conclusion: The individuals with ACL reconstruction mainly showed asymmetrical movements in the sagittal and horizontal planes. The surgical leg demonstrated a smaller peak knee flexion angle, knee extension moment, and knee external rotation moment, with greater knee external rotation angle.

目的评估前交叉韧带(ACL)重建术后 12 个月左右的患者在切削过程中的膝关节生物力学,并确定异常的生物力学特征:本研究招募了 16 名前交叉韧带重建术后约 12 个月的男性患者。收集切削运动时的三维运动学和动力学数据。计算膝关节角度和力矩。采用配对 t 检验比较手术腿和非手术腿在膝关节生物力学方面的差异:结果:手术腿的后方地面反作用力峰值(手术腿:0.380±0.071;非手术腿:0.427±0.069,P = 0.003)和垂直地面反作用力峰值(手术腿:1.996±0.202;非手术腿:2.110±0.182,P = 0.001)明显小于非手术腿。与未受伤的腿相比,手术腿的膝关节屈曲角度较小(手术腿:38.3°± 7.4°;非手术腿:42.8°± 7.9°,P < 0.001),外旋角度较大(手术腿:10.3°± 2.4°;非手术腿:7.7°± 2.1°,P = 0.008)。与非手术腿相比,手术腿的膝关节伸展力矩峰值(手术腿:0.092 ± 0.031;非手术腿:0.133 ± 0.024,P < 0.001)和膝关节外旋力矩峰值(手术腿:0.005 ± 0.004;非手术腿:0.008 ± 0.004,P = 0.015)也较小:结论:接受前交叉韧带重建的人主要表现为矢状平面和水平平面的不对称运动。结论:前交叉韧带重建者主要表现为矢状面和水平面的不对称运动,手术腿的膝关节屈曲角度、膝关节伸展力矩和膝关节外旋力矩峰值较小,膝关节外旋角度较大。
{"title":"[Biomechanics during cutting movement in individuals after anterior cruciate ligament reconstruction].","authors":"Shuang Ren, Huijuan Shi, Zixuan Liang, Si Zhang, Xiaoqing Hu, Hongshi Huang, Yingfang Ao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate knee biomechanics of patients about 12 months after anterior cruciate ligament (ACL) reconstruction during cutting and determine the abnormal biomechanical characteristics.</p><p><strong>Methods: </strong>Sixteen males about 12 months after ACL reconstruction were recruited for this study. Three-dimensional kinematic and kinetic data were collected during cutting movement. Knee joint angles and moments were calculated. Paired <i>t</i>-tests were used to compare the differences in knee biomechanics between the surgical leg and nonsurgical leg.</p><p><strong>Results: </strong>The peak posterior ground reaction force (surgical leg: 0.380±0.071; nonsurgical leg: 0.427±0.069, <i>P</i> = 0.003) and vertical ground reaction force (surgical leg: 1.996±0.202, nonsurgical leg: 2.110±0.182, <i>P</i> = 0.001) were significantly smaller in the surgical leg than in the nonsurgical leg. When compared with the uninjured leg, the surgical leg demonstrated a smaller knee flexion angle (surgical leg: 38.3°± 7.4°; nonsurgical leg: 42.8°± 7.9°, <i>P</i> < 0.001) and larger external rotation angle (surgical leg: 10.3°± 2.4°; nonsurgical leg: 7.7°± 2.1°, <i>P</i> = 0.008). The surgical leg also demonstrated a smaller peak knee extension moment (surgical leg: 0.092 ± 0.031; nonsurgical leg: 0.133 ± 0.024, <i>P</i> < 0.001) and peak knee external rotation moment (surgical leg: 0.005 ± 0.004; nonsurgical leg: 0.008 ± 0.004, <i>P</i> = 0.015) when compared with the nonsurgical leg.</p><p><strong>Conclusion: </strong>The individuals with ACL reconstruction mainly showed asymmetrical movements in the sagittal and horizontal planes. The surgical leg demonstrated a smaller peak knee flexion angle, knee extension moment, and knee external rotation moment, with greater knee external rotation angle.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报(医学版)","volume":"56 5","pages":"868-873"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456987","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}
引用次数: 0
[Fulminant type 1 diabetes mellitus with acute pancreatitis: A case report and literature review]. [1型糖尿病并发急性胰腺炎:病例报告和文献综述]。
Q3 Medicine Pub Date : 2024-10-18
Peiheng Zhang, Ying Gao, Honghua Wu, Jian Zhang, Junqing Zhang

The objective was to report a relatively rare case of fulminant type 1 diabetes (FT1DM) complicated with acute pancreatitis (AP), to summarize the characteristics as well as experience of diagnosis and treatment, and to explore its pathogenesis. Clinical data of a case of FT1DM complicated with AP in the Department of Endocrinology of our hospital were analyzed retrospectively. A 66-year-old male presented with acute fever and abdominal pain, accompanying with the significantly elevated pancreatic enzymes, and his abdominal CT scan showed exudation around the pancreas. The clinical manifestations mentioned above were consistent with the diagnosis of AP. Five days after onset, the patient developed clinical symptoms, such as obvious thirst, polyuria, polyasthenia and fatigue. Meanwhile, his plasma glucose increased significantly and the diabetic ketoacidosis (DKA) occurred. The patient's fasting and postprandial 2 hours C peptide decreased significantly (all 0.02 μg/L), glycated hemoglobin level was not high (6%), and his islet-related autoantibodies were undetectable. Thus, the patient could be diagnosed with FT1DM. After the treatment of fasting, fluid replacement, anti-infection, somatostatin, anticoagulation and intravenous insulin sequential subcutaneous insulin pump, the patient gained the alleviation of pancreatitis, restoration of oral intake, and relatively stable blood glucose levels. Summarizing the characte-ristics of this case and reviewing the literature, FT1DM complicated with AP was relatively rare in FT1DM. Its common characteristics were described below: (1) Most cases started with AP and the blood glucose elevated within 1 week, or some cases had the simultaneously onset of AP and FT1DM. (2) The clinical course of AP was short and relieved no more than 1 week; Pancreatic imaging could completely return to normal within 1 to 4 weeks after onset. (3) The etiology of AP most was idiopathic; The elevation of pancreatic enzyme level was slight and the recovery was rapidly compared with AP of other etiologies. FT1DM could be complicated with AP, which was different from the physiological manifestations of pancreatic disease in general FT1DM patients. Virus infection mignt be the common cause of AP and FT1DM, and AP might be the early clinical manifestation of some FT1DM. The FT1DM patients developed with abdominal pain was easy to be missed, misdiagnosed and delayed, which should receive more attention in clinic.

目的是报告一例相对罕见的暴发性1型糖尿病(FT1DM)并发急性胰腺炎(AP)的病例,总结其特点和诊治经验,并探讨其发病机制。回顾性分析了我院内分泌科一例FT1DM并发急性胰腺炎的临床资料。一名 66 岁的男性患者因急性发热和腹痛就诊,伴有胰酶明显升高,腹部 CT 扫描显示胰腺周围有渗出。上述临床表现与 AP 的诊断一致。发病五天后,患者出现明显口渴、多尿、多食和乏力等临床症状。同时,他的血浆葡萄糖明显升高,出现了糖尿病酮症酸中毒(DKA)。患者的空腹和餐后 2 小时 C 肽明显下降(均为 0.02 μg/L),糖化血红蛋白水平不高(6%),且检测不到与胃肠道相关的自身抗体。因此,患者被诊断为 FT1DM。经过禁食、补液、抗感染、体生长抑素、抗凝、静脉胰岛素序贯皮下胰岛素泵等治疗后,患者胰腺炎缓解,口服恢复,血糖水平相对稳定。总结本病例的特点并回顾文献,FT1DM 并发 AP 在 FT1DM 中较为罕见。其共同特点如下:(1)大多数病例以 AP 起病,血糖在 1 周内升高,或部分病例同时出现 AP 和 FT1DM。(2) AP 临床病程短,缓解不超过 1 周;胰腺影像学检查可在发病后 1 至 4 周内完全恢复正常。(3)AP 的病因多为特发性;与其他病因引起的 AP 相比,胰酶水平升高轻微,恢复迅速。FT1DM 可并发 AP,这与一般 FT1DM 患者胰腺疾病的生理表现不同。病毒感染可能是 AP 和 FT1DM 的共同病因,AP 可能是某些 FT1DM 的早期临床表现。FT1DM患者出现腹痛容易漏诊、误诊和延误病情,临床上应给予更多关注。
{"title":"[Fulminant type 1 diabetes mellitus with acute pancreatitis: A case report and literature review].","authors":"Peiheng Zhang, Ying Gao, Honghua Wu, Jian Zhang, Junqing Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The objective was to report a relatively rare case of fulminant type 1 diabetes (FT1DM) complicated with acute pancreatitis (AP), to summarize the characteristics as well as experience of diagnosis and treatment, and to explore its pathogenesis. Clinical data of a case of FT1DM complicated with AP in the Department of Endocrinology of our hospital were analyzed retrospectively. A 66-year-old male presented with acute fever and abdominal pain, accompanying with the significantly elevated pancreatic enzymes, and his abdominal CT scan showed exudation around the pancreas. The clinical manifestations mentioned above were consistent with the diagnosis of AP. Five days after onset, the patient developed clinical symptoms, such as obvious thirst, polyuria, polyasthenia and fatigue. Meanwhile, his plasma glucose increased significantly and the diabetic ketoacidosis (DKA) occurred. The patient's fasting and postprandial 2 hours C peptide decreased significantly (all 0.02 μg/L), glycated hemoglobin level was not high (6%), and his islet-related autoantibodies were undetectable. Thus, the patient could be diagnosed with FT1DM. After the treatment of fasting, fluid replacement, anti-infection, somatostatin, anticoagulation and intravenous insulin sequential subcutaneous insulin pump, the patient gained the alleviation of pancreatitis, restoration of oral intake, and relatively stable blood glucose levels. Summarizing the characte-ristics of this case and reviewing the literature, FT1DM complicated with AP was relatively rare in FT1DM. Its common characteristics were described below: (1) Most cases started with AP and the blood glucose elevated within 1 week, or some cases had the simultaneously onset of AP and FT1DM. (2) The clinical course of AP was short and relieved no more than 1 week; Pancreatic imaging could completely return to normal within 1 to 4 weeks after onset. (3) The etiology of AP most was idiopathic; The elevation of pancreatic enzyme level was slight and the recovery was rapidly compared with AP of other etiologies. FT1DM could be complicated with AP, which was different from the physiological manifestations of pancreatic disease in general FT1DM patients. Virus infection mignt be the common cause of AP and FT1DM, and AP might be the early clinical manifestation of some FT1DM. The FT1DM patients developed with abdominal pain was easy to be missed, misdiagnosed and delayed, which should receive more attention in clinic.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报(医学版)","volume":"56 5","pages":"923-927"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457007","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}
引用次数: 0
[Caries experience and its correlation with caries activity of 4-year-old children in Miyun District of Beijing]. [北京市密云区 4 岁儿童的龋病经历及其与龋活动的相关性]。
Q3 Medicine Pub Date : 2024-10-18
Xinxin Chen, Zhe Tang, Yanchun Qiao, Wensheng Rong

Objective: To investigate the prevalence of dental caries of 4-year-old children in Miyun District of Beijing by international caries detection and assessment system (ICDAS), to detect the caries activity Cariostat value and to analyze the correlation between the Cariostat value and dental caries.

Methods: Totally 815 children aged 4 years in 7 kindergartens in Miyun District of Beijing were recruited. The clinical examination of all children was conducted by one examiner using ICDAS. The oral de-birs and plaques were collected by one doctor who recorded the Cariostat scores. The results of clinical examination were compared between genders. At the same time, the prevalence of dental caries, the mean d3-6ft/d3-6fs and d1-6ft/d1-6fs among high Cariostat scores group (2.0-3.0), medium Cariostat scores group (1.5) and low Cariostat scores group (0-1.0) were compared. The distributions of incipient caries in different Cariostat scores groups were compared among children with incipient caries only.

Results: All the children had incipient caries, and 78.3% of the children had cavitated caries with ICDAS score of 3 or above. The mean d1-2t scores were 9.76±3.65, the mean d3-6ft scores was 4.64±4.43 and the mean d1-6ft scores were 14.41±3.42. The incipient caries with ICDAS score of 1-2 were widely distributed, accounting for 67.7% of the total numbers of caries. There was no significant diffe-rence in caries prevalence and caries experience between genders (P>0.05). The proportion of children with high Cariostat scores in boys (43.6%) was higher than that in girls (33%) and the difference was statistically significant (P<0.05). With the increase of Cariostat scores, the prevalence of cavitated caries, the mean d3-6ft/d3-6fs and d1-6ft/d1-6fs scores in children was on the increase and the difference among the three groups was statistically significant (P<0.05). For children with incipient caries only, the distribution of incipient caries in different Cariostat scores groups was no significant difference (P>0.05).

Conclusion: ICDAS can detect early enamel demineralization of deciduous teeth in children. The prevalence of dental caries among 815 4-year-old children in Miyun District of Beijing is more serious, and incipient caries is widely distributed in children. Cariostat value reflects the status of cavi-tated caries and has no correlation with the distribution of incipient caries. Therefore, the combined application of ICDAS and Cariostat caries activity detection method is helpful for the detection of incipient caries and screening of caries high-risk children, which has great significance for the comprehensive ma-nagement of caries in children and the formulation of early preventive measures.

目的通过国际龋病检测评估系统(ICDAS)调查北京市密云区4岁儿童龋齿患病率,检测龋活性Cariostat值,分析Cariostat值与龋齿的相关性:方法:招募北京市密云区 7 所幼儿园的 815 名 4 岁儿童。所有儿童的临床检查均由一名检查员使用 ICDAS 进行。由一名医生收集口腔脱落细胞和斑块,并记录 Cariostat 评分。临床检查结果在性别间进行比较。同时,比较了高 Cariostat 评分组(2.0-3.0)、中 Cariostat 评分组(1.5)和低 Cariostat 评分组(0-1.0)的龋齿患病率、平均 d3-6ft/d3-6fs 和 d1-6ft/d1-6fs 值。在仅有初期龋齿的儿童中,比较了不同Cariostat评分组的初期龋齿分布情况:结果:所有儿童都患有初期龋,78.3%的儿童患有ICDAS评分为3分或以上的龋洞。d1-2t 评分的平均值为(9.76±3.65)分,d3-6ft 评分的平均值为(4.64±4.43)分,d1-6ft 评分的平均值为(14.41±3.42)分。ICDAS评分为1-2分的初期龋分布广泛,占龋齿总数的67.7%。两性在龋病患病率和龋病经历方面无明显差异(P>0.05)。男童的 Cariostat 高分比例(43.6%)高于女童(33%),差异有统计学意义(儿童的 P3-6ft/d3-6fs 和 d1-6ft/d1-6fs 分数呈上升趋势,三组间差异有统计学意义(PP>0.05)):结论:ICDAS可检测出儿童乳牙早期的釉质脱矿。北京市密云区815名4岁儿童的龋病患病率较高,萌动期龋在儿童中分布广泛。Cariostat值反映的是龋坏的状况,与初期龋的分布没有相关性。因此,联合应用ICDAS和Cariostat龋活动度检测方法有助于发现初期龋和筛查龋病高危儿童,对儿童龋病的综合管理和早期预防措施的制定具有重要意义。
{"title":"[Caries experience and its correlation with caries activity of 4-year-old children in Miyun District of Beijing].","authors":"Xinxin Chen, Zhe Tang, Yanchun Qiao, Wensheng Rong","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the prevalence of dental caries of 4-year-old children in Miyun District of Beijing by international caries detection and assessment system (ICDAS), to detect the caries activity Cariostat value and to analyze the correlation between the Cariostat value and dental caries.</p><p><strong>Methods: </strong>Totally 815 children aged 4 years in 7 kindergartens in Miyun District of Beijing were recruited. The clinical examination of all children was conducted by one examiner using ICDAS. The oral de-birs and plaques were collected by one doctor who recorded the Cariostat scores. The results of clinical examination were compared between genders. At the same time, the prevalence of dental caries, the mean d<sub>3-6</sub>ft/d<sub>3-6</sub>fs and d<sub>1-6</sub>ft/d<sub>1-6</sub>fs among high Cariostat scores group (2.0-3.0), medium Cariostat scores group (1.5) and low Cariostat scores group (0-1.0) were compared. The distributions of incipient caries in different Cariostat scores groups were compared among children with incipient caries only.</p><p><strong>Results: </strong>All the children had incipient caries, and 78.3% of the children had cavitated caries with ICDAS score of 3 or above. The mean d<sub>1-2</sub>t scores were 9.76±3.65, the mean d<sub>3-6</sub>ft scores was 4.64±4.43 and the mean d<sub>1-6</sub>ft scores were 14.41±3.42. The incipient caries with ICDAS score of 1-2 were widely distributed, accounting for 67.7% of the total numbers of caries. There was no significant diffe-rence in caries prevalence and caries experience between genders (<i>P</i>>0.05). The proportion of children with high Cariostat scores in boys (43.6%) was higher than that in girls (33%) and the difference was statistically significant (<i>P</i><0.05). With the increase of Cariostat scores, the prevalence of cavitated caries, the mean d<sub>3-6</sub>ft/d<sub>3-6</sub>fs and d<sub>1-6</sub>ft/d<sub>1-6</sub>fs scores in children was on the increase and the difference among the three groups was statistically significant (<i>P</i><0.05). For children with incipient caries only, the distribution of incipient caries in different Cariostat scores groups was no significant difference (<i>P</i>>0.05).</p><p><strong>Conclusion: </strong>ICDAS can detect early enamel demineralization of deciduous teeth in children. The prevalence of dental caries among 815 4-year-old children in Miyun District of Beijing is more serious, and incipient caries is widely distributed in children. Cariostat value reflects the status of cavi-tated caries and has no correlation with the distribution of incipient caries. Therefore, the combined application of ICDAS and Cariostat caries activity detection method is helpful for the detection of incipient caries and screening of caries high-risk children, which has great significance for the comprehensive ma-nagement of caries in children and the formulation of early preventive measures.</p>","PeriodicalId":8790,"journal":{"name":"北京大学学报(医学版)","volume":"56 5","pages":"833-838"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456988","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}
引用次数: 0
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]. [十三例先天性双侧输精管缺失不育症患者致病基因突变的检测]。
Q3 Medicine Pub Date : 2024-10-18
Ying Tang, Yongbo Zhang, Danhong Wu, Yanhong Lin, Fenghua Lan
<p><strong>Objective: </strong>To detect the cystic fibrosis transmembrane transduction regulator (<i>CFTR</i>) gene mutations and congenital bilateral absence of vas deferens (CBAVD) susceptibility gene mutations in patients with CBAVD, and to explore their association with the risk of CBAVD.</p><p><strong>Methods: </strong>Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes <i>CFTR</i>, adhesion G protein-coupled receptor G2 (<i>ADGRG2</i>), sodium channel epithelial 1 subunit beta (<i>SCNN1B</i>), carbonic anhydrase 12 (<i>CA12</i>), and solute carrier family 9 member A3 (<i>SLC9A3</i>) in thirteen cases of isolated CBAVD patients. The polymorphic loci, intron and flanking sequences of <i>CFTR</i> gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequencing. Bioinformatics methods were employed for conservative analysis and deleterious prediction of novel susceptibility gene mutations in CBAVD. Genetic analysis was performed on the pedigree of one out of thirteen patients with CBAVD to evaluate the risk of inheritance in offspring.</p><p><strong>Results: </strong>Exome sequencing revealed <i>CFTR</i> gene exon mutations in only six of the thirteen CBAVD patients, with six missense mutations c.2684G>A(p.Ser895Asn), c.4056G>C(p.Gln1352His), c.2812G>(p.Val938Leu), c.3068T>G(p.Ile1023Arg), c.374T>C(p.Ile125Thr), c.1666A>G(p.Ile556Val)), and one nonsense mutation (c.1657C>T(p.Arg553Ter). Among these six patients, two also had the <i>CFTR</i> homozygous p.V470 site, additionally, mutations in <i>CFTR</i> gene exon regions were not detected in the remaining seven patients. Within the thirteen CBAVD patients, three carried the homozygous p.V470 polymorphic site, four carried the 5T allele, two carried the TG13 allele, and ten carried the c.-966T>G site. Four CBAVD patients simultaneously carried 2-3 of the aforementioned <i>CFTR</i> gene mutation sites. Susceptibility gene mutations in CBAVD among the thirteen patients included one <i>ADGRG2</i> missense mutation c.2312A>G(p.Asn771Ser), two SLC9A3 missense mutations c.2395T>C(p.Cys799Arg), c.493G>A(p.Val165Ile), one <i>SCNN1B</i> missense mutation c.1514G>A(p.Arg505His), and one <i>CA12</i> missense mutation c.1061C>T (p.Ala354Val). Notably, the SLC9A3 gene c.493G>A (p.Val165Ile) mutation site was first identified in CBAVD patients. The five mutations exhibited an extremely low population mutation frequency in the gnomAD database, classifying them as rare mutations. Predictions from Mutation Taster and Polyphen-2 software indicated that the harmfulness level of the SLC9A3 gene c.493G>A (p.Val165Ile) site and the <i>SCNN1B</i> gene c.1514G>A (p.Arg505His) site were disease causing and probably damaging. The genetic analysis of one pedigree revealed that the c.1657C>T (p.Arg553Ter) mutation in the proband was a de novo mutation, as neither the proband's father nor mother carried this mutation. The proband and his spouse conceived a daugh
目的检测囊性纤维化跨膜转导调节因子(CFTR)基因突变和先天性双侧输精管缺如(CBAVD)患者的易感基因突变,并探讨其与CBAVD风险的关联:方法:对13例离体CBAVD患者的致病基因CFTR、粘附G蛋白偶联受体G2(ADGRG2)、钠通道上皮1亚基β(SCNN1B)、碳酸酐酶12(CA12)和溶质运载家族9成员A3(SLC9A3)进行了全外显子测序和桑格测序验证。通过聚合酶链反应(PCR)扩增 CFTR 基因的多态位点、内含子和侧翼序列,然后进行 Sanger 测序。采用生物信息学方法对 CBAVD 的新型易感基因突变进行了保守分析和有害预测。对 13 名 CBAVD 患者中的一名患者的血统进行了遗传分析,以评估其后代的遗传风险:结果:外显子组测序显示,13 名 CBAVD 患者中只有 6 人的 CFTR 基因外显子发生了突变,其中 6 个错义突变为 c.2684G>A(p.Ser895Asn)、c.4056G>C(p.Gln1352His)、c.2812G>(p.Val938Leu)、c.3068T>G(p.Ile1023Arg)、c.374T>C(p.Ile125Thr)、c.1666A>G(p.Ile556Val)和一个无义突变(c.1657C>T(p.Arg553Ter))。在这六名患者中,有两名患者还具有 CFTR 同源的 p.V470 位点,此外,其余七名患者未检测到 CFTR 基因外显子区域的突变。在13名CBAVD患者中,3人携带同源p.V470多态位点,4人携带5T等位基因,2人携带TG13等位基因,10人携带c.-966T>G位点。4 名 CBAVD 患者同时携带上述 2-3 个 CFTR 基因突变位点。13 名 CBAVD 患者的易感基因突变包括一个 ADGRG2 错义突变 c.2312A>G(p.Asn771Ser)、两个 SLC9A3 错义突变 c.2395T>C(p.Cys799Arg)、c.493G>A(p.Val165Ile),一个 SCNN1B 错义突变 c.1514G>A(p.Arg505His),以及一个 CA12 错义突变 c.1061C>T(p.Ala354Val)。值得注意的是,SLC9A3基因c.493G>A(p.Val165Ile)突变位点是首次在CBAVD患者中发现的。这五个突变在 gnomAD 数据库中的群体突变频率极低,因此被归类为罕见突变。Mutation Taster 和 Polyphen-2 软件的预测结果表明,SLC9A3 基因 c.493G>A (p.Val165Ile) 位点和 SCNN1B 基因 c.1514G>A (p.Arg505His) 位点的有害程度是致病性的,可能具有破坏性。对一个血统的遗传分析表明,该病例的 c.1657C>T (p.Arg553Ter) 基因突变是一种新发突变,因为该病例的父亲或母亲都不携带这种突变。该患者及其配偶通过辅助生殖技术怀上了一个女儿,女儿继承了该患者的致病突变 c.1657C>T (p.Arg553Ter):结论:CFTR基因突变仍是中国CBAVD患者的主要病因;然而,突变的分布和频率与其他国内外研究报告的数据不同,这凸显了扩大中国CBAVD患者CFTR基因突变谱的必要性。ADGRG2、SLC9A3、SCNN1B和CA12等易感基因可能可以解释一些没有CFTR突变的CBAVD病例。鉴于 CBAVD 患者缺乏特异性临床表现,建议临床医生在做出明确诊断前进一步进行体格检查,并考虑阴囊或经直肠超声检查。建议在孕前基因筛查中采用 CFTR 基因突变检测,以降低后代患 CBAVD 和囊性纤维化的风险。
{"title":"[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].","authors":"Ying Tang, Yongbo Zhang, Danhong Wu, Yanhong Lin, Fenghua Lan","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To detect the cystic fibrosis transmembrane transduction regulator (&lt;i&gt;CFTR&lt;/i&gt;) gene mutations and congenital bilateral absence of vas deferens (CBAVD) susceptibility gene mutations in patients with CBAVD, and to explore their association with the risk of CBAVD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes &lt;i&gt;CFTR&lt;/i&gt;, adhesion G protein-coupled receptor G2 (&lt;i&gt;ADGRG2&lt;/i&gt;), sodium channel epithelial 1 subunit beta (&lt;i&gt;SCNN1B&lt;/i&gt;), carbonic anhydrase 12 (&lt;i&gt;CA12&lt;/i&gt;), and solute carrier family 9 member A3 (&lt;i&gt;SLC9A3&lt;/i&gt;) in thirteen cases of isolated CBAVD patients. The polymorphic loci, intron and flanking sequences of &lt;i&gt;CFTR&lt;/i&gt; gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequencing. Bioinformatics methods were employed for conservative analysis and deleterious prediction of novel susceptibility gene mutations in CBAVD. Genetic analysis was performed on the pedigree of one out of thirteen patients with CBAVD to evaluate the risk of inheritance in offspring.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Exome sequencing revealed &lt;i&gt;CFTR&lt;/i&gt; gene exon mutations in only six of the thirteen CBAVD patients, with six missense mutations c.2684G&gt;A(p.Ser895Asn), c.4056G&gt;C(p.Gln1352His), c.2812G&gt;(p.Val938Leu), c.3068T&gt;G(p.Ile1023Arg), c.374T&gt;C(p.Ile125Thr), c.1666A&gt;G(p.Ile556Val)), and one nonsense mutation (c.1657C&gt;T(p.Arg553Ter). Among these six patients, two also had the &lt;i&gt;CFTR&lt;/i&gt; homozygous p.V470 site, additionally, mutations in &lt;i&gt;CFTR&lt;/i&gt; gene exon regions were not detected in the remaining seven patients. Within the thirteen CBAVD patients, three carried the homozygous p.V470 polymorphic site, four carried the 5T allele, two carried the TG13 allele, and ten carried the c.-966T&gt;G site. Four CBAVD patients simultaneously carried 2-3 of the aforementioned &lt;i&gt;CFTR&lt;/i&gt; gene mutation sites. Susceptibility gene mutations in CBAVD among the thirteen patients included one &lt;i&gt;ADGRG2&lt;/i&gt; missense mutation c.2312A&gt;G(p.Asn771Ser), two SLC9A3 missense mutations c.2395T&gt;C(p.Cys799Arg), c.493G&gt;A(p.Val165Ile), one &lt;i&gt;SCNN1B&lt;/i&gt; missense mutation c.1514G&gt;A(p.Arg505His), and one &lt;i&gt;CA12&lt;/i&gt; missense mutation c.1061C&gt;T (p.Ala354Val). Notably, the SLC9A3 gene c.493G&gt;A (p.Val165Ile) mutation site was first identified in CBAVD patients. The five mutations exhibited an extremely low population mutation frequency in the gnomAD database, classifying them as rare mutations. Predictions from Mutation Taster and Polyphen-2 software indicated that the harmfulness level of the SLC9A3 gene c.493G&gt;A (p.Val165Ile) site and the &lt;i&gt;SCNN1B&lt;/i&gt; gene c.1514G&gt;A (p.Arg505His) site were disease causing and probably damaging. The genetic analysis of one pedigree revealed that the c.1657C&gt;T (p.Arg553Ter) mutation in the proband was a de novo mutation, as neither the proband's father nor mother carried this mutation. The proband and his spouse conceived a daugh","PeriodicalId":8790,"journal":{"name":"北京大学学报(医学版)","volume":"56 5","pages":"763-774"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456990","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}
引用次数: 0
[Application of 18F-FDG PET/CT in rheumatic diseases]. [18F-FDG PET/CT 在风湿病中的应用]。
Q3 Medicine Pub Date : 2024-10-18
Hua Zhong, Yuan Li, Liling Xu, Mingxin Bai, Yin Su

Objective: To explore the application of 18F-flurodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in rheumatic diseases, to compare these different imaging features, and to describe the current PET/CT imaging status in clinical practice.

Methods: A total of 486 cases in our department from January 2012 to December 2018 were enrolled in this study, and 18F-FDG PET/CT examination was performed in all the patients. The clinical use of 18F-FDG PET/CT was retrospectively analyzed to discuss the clinical application and its imaging characteristics of rheumatic diseases. Categorical data were used to ascertain prevalence statistics, whereas continuous data were used to delineate means and standard deviations. Independent sample t test, Chi square test and Mann-Whitney U test were used for statistical analysis. A P-value of < 0.05 was considered significant.

Results: (1) From 2012 to 2018, totally 486 patients in the Department of Rheumatology and Immunology underwent 18F-FDG PET/CT examination, accounting for 5.30% of the total number of PET/CT examinations in the whole hospital. In this study, 304 of the 486 patient were female (62.55%), 182 of them were male (37.45%), the average age of the patients was (53.21±18.81) years, and the proportion of the patients aged 45-65 (227/486, 46.71%) was the highest group. (2) Three leading purposes of the PET/CT examination in our department were to exclude cancers (55.56%), assist in diagnosis (24.60%) and evaluate the disease activity (19.84%). (3) Of the 486 patients who underwent 18F-FDG PET/CT, 327 cases might indicate a differential diagnosis of rheumatic disease, of which, 292 cases were highly suggestive of diagnosis, including 61 cases of myositis, 60 cases of vasculitis, 37 cases of adult still's disease, 32 cases of IgG4 related diseases, 30 cases of rheumatoid arthritis, 22 cases of Sjögren's syndrome, 22 cases of systemic lupus erythematosus, and 9 cases of rheumatic polymyalgia; the remaining 35 cases only prompted the possibility of autoimmune disease. Of the 486 patients, 74 cases suggested the diagnosis of cancers, 25 cases indicated the diagnosis of infectious diseases, while 60 cases could not show any diagnostic values. Ten patients with rheumatic disease were followed up with a post-treatment repeat PET/CT, and the findings in remission showed reduced 18F-FDG metabolic activity as well as a reduction in the extent of metabolic hypertrophic lesions.

Conclusion: There are some typical sign of 18F-FDG PET/CT for diffuse connective tissue diseases, therefore 18F-FDG PET/CT has auxi-liary effect on the classification diagnosis of rheumatic diseases, especially for the exclusion of cancers.

目的探讨18F-氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描(18F-FDG PET/CT)在风湿性疾病中的应用,比较这些不同的影像学特征,并描述目前PET/CT影像学在临床实践中的应用现状:本研究共纳入我科2012年1月至2018年12月的486例患者,对所有患者进行18F-FDG PET/CT检查。回顾性分析18F-FDG PET/CT的临床应用情况,探讨风湿性疾病的临床应用及其影像学特点。分类数据用于确定患病率统计,连续数据用于划分均值和标准差。统计分析采用独立样本 t 检验、卡方检验和曼-惠特尼 U 检验。结果:(1)2012 年至 2018 年,风湿免疫科共有 486 例患者接受了 18F-FDG PET/CT 检查,占全院 PET/CT 检查总数的 5.30%。本次研究的 486 例患者中,女性 304 例(62.55%),男性 182 例(37.45%),患者平均年龄为(53.21±18.81)岁,其中 45-65 岁患者比例最高(227/486,46.71%)。(2)我科PET/CT检查的三大主要目的是排除癌症(55.56%)、辅助诊断(24.60%)和评估疾病活动性(19.84%)。(3)在接受 18F-FDG PET/CT 检查的 486 例患者中,有 327 例可能提示风湿病的鉴别诊断,其中 292 例高度提示诊断,包括肌炎 61 例、血管炎 60 例、成人 still's 病 37 例、37 例成人 still's病、32 例 IgG4 相关疾病、30 例类风湿性关节炎、22 例 Sjögren's 综合征、22 例系统性红斑狼疮和 9 例风湿性多肌痛;其余 35 例仅提示了自身免疫性疾病的可能性。在 486 例患者中,74 例提示癌症诊断,25 例提示传染病诊断,60 例无法显示任何诊断价值。对 10 例风湿病患者进行了治疗后复查 PET/CT 随访,结果显示缓解期患者的 18F-FDG 代谢活性降低,代谢性肥大病变范围缩小:结论:18F-FDG PET/CT 对弥漫性结缔组织病有一定的典型表现,因此 18F-FDG PET/CT 对风湿性疾病的分类诊断,尤其是对癌症的排除有辅助作用。
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引用次数: 0
[Etiological analysis of hydronephrosis in adults: A single-center cross-sectional study]. [成人肾积水病因分析:单中心横断面研究]。
Q3 Medicine Pub Date : 2024-10-18
Silu Chen, Haiju Wang, Yucai Wu, Zhihua Li, Yanbo Huang, Yuhui He, Yangyang Xu, Xuesong Li, Hua Guan

Objective: To investigate the etiological distribution of hydronephrosis caused by upper urinary tract obstruction in adult patients and to improve the diagnostic accuracy for this condition.

Methods: The clinical information of adult patients with newly diagnosed hydronephrosis in Upper Urinary Tract Repair Outpatient Clinic of Peking University First Hospital from May 2020 to May 2021 were prospectively and continuously collected. Patients with ureteral calculi or upper urinary tract tumor were excluded. A total of 767 patients were involved. The underlying causes of upper urinary tract obstruction were identified by senior urological surgeons according to symptoms, medical history, physical examination, and a range of diagnostic imaging techniques including ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), retrograde pyelography, antegrade pyelography, radionuclide renogram and ureteroscopy.

Results: Among the 767 patients, 359(46.8%) were male and 408(53.2%) were female. The median age of these patients was 37 years (range, 14-84 years). Hydronephrosis was observed at left-sided in 357 cases(46.6%), right-sided in 251 cases(32.7%), and bilateral in 159 cases(20.7%). The causes of hydronephrosis were classified as follows: (1) Non-iatrogenic factors were found in 464 cases (60.5%). These included urinary malformations in 355 cases(76.5%), infection in 29 cases(6.3%), pelvic lipomatosis and/or cystitis glandularis in 23 cases(5.0%), ureteral endometriosis in 18 cases(3.9%), retroperitoneal fibrosis in 15 cases(3.2%), trauma in 7 cases(1.5%) and other non-iatrogenic factors in 12 cases(2.6%). Some of these patients had multiple non-iatrogenic causes. Among the 355 cases with urinary system malformations, 252 cases (71.0%) had ureteropelvic junction obstruction. (2) Iatrogenic ureteral injuries accounted for 210 cases (27.4%), including 112 cases(53.3%) of urological surgical injuries, 51 cases(24.3%) of radiotherapy for malignant tumor related injuries, 34 cases(16.2%) of gynecological and obstetrical surgical injuries, and 13 cases(6.2%) of general surgical injuries. (3) The cause of hydronephrosis remained unknown in 93 cases(12.1%).

Conclusion: Hydronephrosis in adults due to upper urinary tract obstruction has a diverse range of causes, with urinary malformations and iatrogenic ureteral injuries being significant contributors. Urological surgeon involved in upper urinary tract reconstruction should be familiar with these potential causes to facilitate accurate diagnosis and effective treatment.

目的探讨成人患者上尿路梗阻所致肾积水的病因分布,提高该病的诊断准确性:前瞻性、连续性地收集 2020 年 5 月至 2021 年 5 月期间北京大学第一医院上尿路修复门诊新确诊的成人肾积水患者的临床资料。排除输尿管结石或上尿路肿瘤患者。共涉及 767 例患者。由资深泌尿外科医生根据症状、病史、体格检查以及一系列影像学诊断技术,包括超声、计算机断层扫描(CT)、磁共振成像(MRI)、逆行肾盂造影、前向肾盂造影、放射性核素肾图和输尿管镜检查,确定上尿路梗阻的根本原因:在 767 名患者中,男性 359 人(46.8%),女性 408 人(53.2%)。这些患者的中位年龄为 37 岁(14-84 岁)。357 例(46.6%)患者为左肾积水,251 例(32.7%)患者为右肾积水,159 例(20.7%)患者为双肾积水。肾积水的病因分为以下几种:(1) 464 例(60.5%)患者的病因为非医源性因素。其中包括泌尿系统畸形 355 例(76.5%)、感染 29 例(6.3%)、盆腔脂肪瘤和/或腺性膀胱炎 23 例(5.0%)、输尿管子宫内膜异位症 18 例(3.9%)、腹膜后纤维化 15 例(3.2%)、外伤 7 例(1.5%)和其他非病因 12 例(2.6%)。其中一些患者有多种非病因。在 355 例泌尿系统畸形患者中,252 例(71.0%)有输尿管盆腔交界处梗阻。(2)先天性输尿管损伤 210 例(27.4%),其中泌尿外科手术损伤 112 例(53.3%),恶性肿瘤放疗相关损伤 51 例(24.3%),妇产科手术损伤 34 例(16.2%),普外科手术损伤 13 例(6.2%)。(3) 93 例(12.1%)肾积水病因不明:结论:成人上尿路梗阻导致的肾积水病因多种多样,泌尿系统畸形和输尿管先天性损伤是重要原因。参与上尿路重建的泌尿外科医生应熟悉这些潜在原因,以便准确诊断和有效治疗。
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引用次数: 0
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北京大学学报(医学版)
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