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Comparative study of extracorporeal shock wave lithotripsy versus mini percutaneous nephrolithotomy for the treatment of nonlower calyceal 10–20 mm size kidney stone 体外冲击波碎石术与小型经皮肾镜取石术治疗10-20 mm非下肾盏结石的比较研究
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-03-01 DOI: 10.4103/UROS.UROS_134_20
P. Roy, D. Sarkar, V. Jalan, D. Pal
Purpose: Urolithiasis is a common medical condition and the treatment is mainly minimally invasive methods. There exists no specific guidelines for the treatment of radio-opaque solitary non lower calyceal kidney stones of 10–20 mm in literature and no head to head study comparing both the procedures. Hence, this study was performed to have a specific guide for the treatment of such stones. Materials and Methods: This study, included all patients aged >18 years, with solitary radiopaque calculi of 10–20 mm size in upper or middle calyx or pelvis of the kidney. A total of 105 patients were assigned to receive extracorporeal shock wave lithotripsy (ESWL) or mini-percutaneous nephrolithotomy (PCNL) for treatment of stone were enrolled in the study and the results were compared in terms of retreatment, stone-free rate (SFR), and complications. Results: The SFR was statistically higher in the mini PCNL group for all locations. The SFR for the ESWL group was low after 1st session; however, it increased with multiple sessions. We had a total of 9 complications in both groups, which was statistically insignificant. Conclusion: This study showed that the mini PCNL is a viable, safe option for the treatment of 10–20 mm non lower calyceal stones, having superior SFRs compared to ESWL with statistically insignificant complications. It can be offered as first-line option for the management of such stones.
目的:尿石症是一种常见病,治疗方法以微创为主。文献中没有关于治疗10 - 20mm放射不透明孤立性非下盏肾结石的具体指南,也没有对两种方法进行头部比较的研究。因此,本研究旨在为此类结石的治疗提供一个具体的指导。材料和方法:本研究纳入了所有年龄在bb0 - 18岁之间,肾上、中萼或骨盆中有10 - 20mm大小的孤立性不透光结石的患者。共有105例患者被分配接受体外冲击波碎石术(ESWL)或微型经皮肾镜取石术(PCNL)治疗结石,并在再治疗、结石清除率(SFR)和并发症方面对结果进行比较。结果:所有部位的小PCNL组SFR均有统计学差异。ESWL组的SFR在第一次治疗后较低;然而,随着会话次数的增加,它会增加。两组共发生9例并发症,差异无统计学意义。结论:本研究表明,微型PCNL是治疗10 - 20mm非下盏结石的可行、安全的选择,与ESWL相比,其SFRs优于ESWL,并发症统计学上无统计学意义。它可以作为管理此类结石的一线选择。
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引用次数: 3
Factors associated with the success of trial without catheter in acute urinary retention due to benign prostatic hyperplasia 无导管治疗良性前列腺增生急性尿潴留试验成功的相关因素
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-03-01 DOI: 10.4103/UROS.UROS_130_20
Dinh Thi Phuong Hoai, Luu Lam Thang Tai, Tran Huu Loc, Muawia Fadlelmola Mohamed, Ali Ahmed, Nguyen Huy, L. Khanh
Purpose: This study aims to evaluate the parameters that can predict the success or failure of trial without catheter (TWOC) for acute urinary retention (AUR) due to benign prostatic hyperplasia (BPH). Materials and Methods: A prospective cohort study was conducted to include 73 medically treated patients with AUR due to BPH. All patients underwent catheterization and were started on alfuzosin (10 mg/day), followed by TWOC. Age, international prostate symptom score (IPSS), quality of life, prostate volume, and urine volume after catheterization were analyzed. Results: Patients' mean age was 74.23 ± 9.63 years; the first successful and failed TWOC was reported in 47 (64.4%) and 26 patients (35.6%), respectively. On the one hand, 89.4% of the patients continued medical treatment with alfuzosin (10 mg/day) in the first successful TWOC group. On the other hand, 30.8% showed the second successful TWOC and continued medical treatment in the first TWOC failure group. The uni- and multivariable analyses in this study showed that severe lower urinary tract symptoms (IPSS ≥20 points), prostatic pain during digital rectal examination (DRE), high urine volume after catheterization (≥950 mL), and high blood urea (≥4.55 mmol/L) were the predictive factors of TWOC failure. Conclusion: Severe lower urinary tract symptoms, prostatic pain during DRE, large urine volume after catheterization, and high blood urea are the predictive factors for TWOC failure in AUR due to BPH.
目的:本研究旨在评估可预测无导管(TWOC)治疗良性前列腺增生(BPH)引起的急性尿潴留(AUR)试验成败的参数。材料和方法:进行了一项前瞻性队列研究,包括73名接受药物治疗的BPH引起的AUR患者。所有患者均接受导管插入术,开始服用阿呋唑嗪(10 mg/天),然后服用TWOC。分析年龄、国际前列腺症状评分(IPSS)、生活质量、前列腺容量和导尿后尿量。结果:患者平均年龄74.23±9.63岁;首次成功和失败的TWOC分别为47例(64.4%)和26例(35.6%)。一方面,在第一个成功的TWOC组中,89.4%的患者继续接受阿呋唑嗪(10mg/天)的药物治疗。另一方面,30.8%的患者第二次TWOC成功,并在第一次TWOC失败组中继续接受药物治疗。本研究中的单因素和多因素分析表明,严重的下尿路症状(IPSS≥20分)、直肠指检(DRE)中的前列腺疼痛、导管插入术后的高尿量(≥950 mL)和高血尿素(≥4.55 mmol/L)是TWOC失败的预测因素。结论:严重的下尿路症状、DRE过程中的前列腺疼痛、导尿后的大尿量和高血尿素是BPH引起的AUR TWOC失败的预测因素。
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引用次数: 0
The impact of population lockdown on the referral pattern for urology in a COVID-19 designated tertiary hospital in Malaysia 人口封锁对马来西亚新冠肺炎指定三级医院泌尿外科转诊模式的影响
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_92_20
N. Amat, E. Philip, C. Chai, W. Yeoh, Jasmine Lim, A. Fadzli, S. Kuppusamy, T. Ong
Purpose: Once COVID-19 was first reported in Wuhan, China, in December 2019, it has rapidly spread worldwide. The Malaysian Government had taken an early measure by introducing the movement control order (MCO), which is a form of lockdown. This study aims at describing the referral pattern for urology in a COVID-19 designated tertiary hospital throughout the MCO period. Materials and Methods: All urology referrals received from March 18, 2020 to April 28, 2020 (i.e., during the MCO period) were included and assessed prospectively. For comparison, a retrospective study covering the period from February 1, 2020 to March 17, 2020 (i.e. pre-MCO period) was conducted. Parameters measured and compared include sources of referral, type of cases, outcomes, admission status, and COVID-19 status of patients referred. Results: The majority of referrals for urology were received from the emergency department during MCO (42.9%), followed by the medical ward (28.6%) and surgical ward (2.3%). In terms of the type of cases referred, during the MCO, the highest number of hematuria cases (22.5%) was received and a high number of Benign Prostate Hypertrophy (BPH) and urethral stricture cases (18.8%). Conservative measures remain the most commonly adopted outcomes/management for both pre and during MCO. The number of admissions required for urology referral showed a slight difference between pre and during MCO. Conclusion: The workload of urology referral in a COVID-19 designated tertiary hospital did not change despite MCO. This supports that the urology team still has an important role to play as a subspecialty unit in managing urology emergencies, even when elective surgeries and procedures are being reduced or rescheduled.
目的:新冠肺炎于2019年12月在中国武汉首次报告后,已在全球迅速传播。马来西亚政府采取了早期措施,推出了行动控制令,这是一种封锁形式。本研究旨在描述新冠肺炎指定三级医院在整个MCO期间的泌尿外科转诊模式。材料和方法:纳入2020年3月18日至2020年4月28日(即MCO期间)收到的所有泌尿外科转诊,并进行前瞻性评估。为了进行比较,进行了一项涵盖2020年2月1日至2020年3月17日期间(即MCO前期间)的回顾性研究。测量和比较的参数包括转诊来源、病例类型、结果、入院状态和转诊患者的新冠肺炎状态。结果:大多数泌尿外科转诊患者在MCO期间(42.9%)来自急诊科,其次是内科(28.6%)和外科(2.3%),血尿病例最多(22.5%),良性前列腺增生(BPH)和尿道狭窄病例最多(18.8%)。保守措施仍然是MCO术前和术中最常用的治疗方法。泌尿外科转诊所需的入院人数在MCO前和期间略有差异。结论:新冠肺炎定点三级医院的泌尿外科转诊工作量尽管有MCO,但没有改变。这支持了泌尿外科团队作为一个亚专业单位在管理泌尿外科紧急情况方面仍然发挥着重要作用,即使选择性手术和程序正在减少或重新安排。
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引用次数: 0
A step toward precision diagnosis of interstitial cystitis 迈向间质性膀胱炎精确诊断的一步
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_15_21
H. Kuo
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引用次数: 0
Urological Science – On the horizon of rising and improving 泌尿科学——在崛起和进步的地平线上
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_40_21
Y. Chuang
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引用次数: 0
Toward a validated diagnostic test with machine learning algorithm for interstitial cystitis 探讨间质性膀胱炎的机器学习诊断方法
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_155_20
M. Chancellor, L. Lamb
Diagnosing interstitial cystitis/bladder pain syndrome (IC/BPS) is difficult as there is no definitive test for IC/BPS. Instead, the diagnosis is based on urinary symptoms and cystoscopy may be recommended. However, cystoscopic diagnosis is associated with potentially exacerbating painful side effects and is highly subjective among physicians. Furthermore, IC/PBS symptoms overlap with symptoms of bladder cancer, urinary tract infection, or overactive bladder. As a result, many patients may go years without a correct diagnosis and proper disease management. The goal of our current IC/BPS research is to develop a simple diagnostic test based on several urine proteins called the IC-risk score (IC-RS). A machine learning (ML) algorithm uses this information to determine if a person has IC/BPS or not; if they have IC/BPS, whether their IC/BPS is characterized by Hunner's lesions. We are currently in the middle of a grant to collect urine samples from 1000 patients with IC/BPS and 1,000 normal controls from across the United States. We are using social media such as Twitter and Facebook and working with patient advocacy organizations to collect urine samples from across the country. We hope to validate the IC-RS and apply for regulatory approval. Having a validated diagnostic test for IC/BPS would be a major advancement to help urology patients. In addition, drug companies developing new drugs and therapies for IC/BPS would have a better way to determine who to include in their clinical trials, and possibly another way to measure if their drug or therapy is effective. We will hereby review the steps that have led us in urine biomarker discovery research from urine protein assessment to use crowdsourcing stakeholders participation to ML algorithm IC-RS score development.
间质性膀胱炎/膀胱疼痛综合征(IC/BPS)的诊断很困难,因为IC/BPS没有明确的检测方法。相反,诊断是基于尿液症状,可能建议进行膀胱镜检查。然而,膀胱镜检查的诊断可能会加剧疼痛的副作用,并且在医生中是高度主观的。此外,IC/PBS症状与膀胱癌症、尿路感染或膀胱过度活动的症状重叠。因此,许多患者可能会在数年内得不到正确的诊断和适当的疾病管理。我们目前IC/BPS研究的目标是开发一种基于几种尿蛋白的简单诊断测试,称为IC风险评分(IC-RS)。机器学习(ML)算法使用该信息来确定一个人是否具有IC/BPS;如果他们患有IC/BPS,他们的IC/BPS是否以Hunner病变为特征。我们目前正在进行一项拨款,从美国各地的1000名IC/BPS患者和1000名正常对照者身上采集尿液样本。我们正在使用推特和脸书等社交媒体,并与患者倡导组织合作,从全国各地收集尿液样本。我们希望验证IC-RS并申请监管部门的批准。对IC/BPS进行有效的诊断测试将是帮助泌尿外科患者的一大进步。此外,为IC/BPS开发新药和疗法的制药公司将有更好的方法来确定谁将参与其临床试验,也可能有另一种方法来衡量他们的药物或疗法是否有效。我们将在此回顾导致我们在尿液生物标志物发现研究中采取的步骤,从尿蛋白评估到使用众包利益相关者参与到ML算法IC-RS评分开发。
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引用次数: 6
Using R.E.N.A.L. nephrometry and preoperative aspects and dimensions employed for anatomical classification to evaluate perioperative outcomes of renal tumors greater than 4 cm in patients who underwent minimally invasive partial nephrectomy in a single center 采用R.E.N.A.L.肾测量法和术前解剖分类方法评价单中心微创肾部分切除术患者肾肿瘤大于4 cm围手术期预后
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_78_20
Hsing-Chia Mai, Chun-Hsien Wu, Yung-Yao Lin, W. Kuo, Yen-Hsi Lee, Ryh-Chyr Li, R. Wu, V. Lin
Purpose: The R.E.N.A.L. (radius, exophytic/endophytic tumor properties, nearness of tumor to deepest portion of collecting system or sinus, anterior/posterior descriptor, and location relative to the polar line) and preoperative aspects and dimensions used for an anatomical (PADUA) (tumor size and position, relationship with the renal sinus or the urinary collecting system, and the grade of deepness into the kidney) nephrometry scoring systems are frequently used in predicting the perioperative outcomes of nephron-sparing surgery (NSS). Minimally invasive NSS on renal masses beyond 4 cm in diameter remains challenging and may result in the significant complications. We aimed to evaluate the associations of both scoring systems with perioperative outcomes for minimally invasive NSS on renal masses larger than 4 cm in diameter. Materials and Methods: We retrospectively reviewed patients who received robot-assisted partial nephrectomy (PN) or laparoscopic PN for renal tumors larger than 4 cm in diameter in our institution between January 2008 and March 2019. Computed tomography scan and magnetic resonance imaging were the standard cross-section imaging modalities done before surgery and both R.E.N.A.L. and PADUA scores were calculated in every case accordingly. The correlation between each scoring system and the perioperative and renal functional outcomes was analyzed by logistic regression models. Results: A total of 93 cases were enrolled in this study. The mean tumor size was 6.1 ± 2.03 cm in the largest dimension. A higher R.E.N.A.L. score was significantly correlated with longer warm ischemia time (WIT) (r = 0.267, P = 0.021), prolonged hospital stays (r = 0.258, P = 0.013), and poorer renal functional outcome at 1 year (r = 0.421, P = 0.003). Meanwhile, a higher PADUA score was significantly correlated with longer operation time (r = 0.255, P = 0.014), longer WIT (r = 0.278, P = 0.016), and poorer renal function after 1 year (r = 0.615, P < 0.001). Neither scoring system correlated with estimated blood loss (P = 0.510 and 0.5466, respectively). The R.E.N.A.L. score, PADUA score, patient age, body mass index, Charlson comorbidity index, tumor size, and American Society of Anesthesiologists score were not associated with surgical complications as well. Conclusion: Both the R.E.N.A.L. and PADUA scoring systems were associated with WIT and renal functional outcomes, but the latter was more relevant. When performing minimal invasive NSS on renal masses beyond 4 cm, both systems can provide valuable risk stratification, but PADUA was found to be superior in the current study.
目的:R.E.N.A.L.(半径,外生/内生肿瘤性质,肿瘤离集系统或窦最深处的距离,前/后描述子,以及相对于极线的位置)和术前用于解剖(PADUA)的方面和尺寸(肿瘤大小和位置,与肾窦或泌尿集系统的关系,肾测量评分系统经常用于预测保留肾元手术(NSS)的围手术期结果。对于直径超过4厘米的肾肿块,微创NSS仍然具有挑战性,并可能导致严重的并发症。我们的目的是评估两种评分系统与直径大于4cm的肾肿块微创NSS围手术期预后的关系。材料和方法:我们回顾性分析了2008年1月至2019年3月期间在我院接受机器人辅助部分肾切除术(PN)或腹腔镜PN治疗直径大于4cm的肾肿瘤的患者。计算机断层扫描和磁共振成像是术前的标准横断面成像方式,并相应地计算每个病例的R.E.N.A.L.和PADUA评分。采用logistic回归模型分析各评分系统与围手术期及肾功能结局的相关性。结果:本研究共纳入93例。肿瘤最大尺寸平均为6.1±2.03 cm。较高的R.E.N.A.L.评分与较长的热缺血时间(WIT) (r = 0.267, P = 0.021)、较长的住院时间(r = 0.258, P = 0.013)和较差的1年肾功能结局(r = 0.421, P = 0.003)显著相关。同时,PADUA评分越高,手术时间越长(r = 0.255, P = 0.014), WIT时间越长(r = 0.278, P = 0.016),术后1年肾功能越差(r = 0.615, P < 0.001)。两种评分系统均与估计失血量无关(P分别为0.510和0.5466)。R.E.N.A.L.评分、PADUA评分、患者年龄、体重指数、Charlson合并症指数、肿瘤大小和美国麻醉医师学会评分也与手术并发症无关。结论:R.E.N.A.L.和PADUA评分系统均与WIT和肾功能结局相关,但后者相关性更大。当对超过4 cm的肾肿块进行微创NSS时,两种系统都可以提供有价值的风险分层,但在本研究中发现PADUA更优越。
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引用次数: 0
Pelvic lymph node dissection using indocyanine green fluorescence lymphangiography in robotic assisted radical prostatectomy for non-lymph node or distant metastasis prostate cancer patients 吲哚青绿荧光淋巴管成像在机器人辅助前列腺癌根治术中用于非淋巴结或远处转移前列腺癌症患者的盆腔淋巴结清扫
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_96_20
Y. Chuang, Y. Ou, Yi-Sheng Lin, Li-Hua Huang, W. Weng, Yu-Kang Chang, Hung-Lin Chen, Chao-Yu Hsu, M. Tung, C. Lu
Purpose: The utility of indocyanine green dye (ICG) has evolved significantly to the robotic operations including Robotic Assisted Radical Prostatectomy (RARP). The technology can help the identification of sentinel lymphatic drainage in lymphadenectomy for the majority of prostate cancer (PCa) patients. We describe the potential indications of ICG for lymphadenectomy assistant in PCa patients without lymph node or distant metastasis. Materials and Methods: We prospectively analyzed PCa patients without lymph node or distant metastasis with clinical pathological stage T1c to T3a received RARP from November 2019 to May 2020. The clinical data and pathological data, including Gleason score, tumor volume, pathological stage, and surgical findings, were described. All lymph nodes were divided into ICG positive or negative. All patients were divided into low, moderate, and high risk according to the European Association of Urology PCa risk stratification. Results: Cystoscope-guided intraprostatic injection was performed successively in 34 localized PCa patients in this study. The mean age was 66.1 ± 7.8 years old. The patients' number of high, moderate, and low risk was 18, 10, 6. A total of 447 lymph nodes were identified. Two hundred and sixty-two lymph nodes were ICG positive and 181 lymph nodes were ICG negative. ICG positive rate higher in high risk patients 158/259 (61.0%) compare to intermediate/low risk patients 104/188 (55.3%). There was no statistic significant result, but lymph node could be identified in all ICG-positive tissues. There were 12 patients revealed higher Gleason grade group after RARP and two patients revealed lower Gleason grade group after RARP. There were 18 patients showed upgrade stage after RARP and 4 patients showed down stage after RARP. Conclusion: Cystoscope-guided intraprostatic ICG injection with fluorescence lymphangiography can help identify pelvic lymph nodes in RARP for PCa patients without lymph node or distant metastasis.
目的:吲哚菁绿色染料(ICG)的用途已显著发展到机器人手术,包括机器人辅助前列腺根治术(RARP)。这项技术可以帮助大多数前列腺癌症(PCa)患者在淋巴结切除术中识别前哨淋巴引流。我们描述了ICG在无淋巴结或远处转移的前列腺癌患者中辅助淋巴结切除的潜在适应症。材料和方法:我们前瞻性分析了2019年11月至2020年5月接受RARP治疗的临床病理分期为T1c至T3a、无淋巴结或远处转移的前列腺癌患者。介绍了临床数据和病理数据,包括Gleason评分、肿瘤体积、病理分期和手术结果。所有淋巴结分为ICG阳性或阴性。根据欧洲泌尿外科协会PCa风险分层,将所有患者分为低风险、中风险和高风险。结果:本研究对34例局限性前列腺癌患者进行了膀胱镜引导下的前列腺内注射。平均年龄66.1±7.8岁。患者的高、中、低风险人数分别为18、10、6。共发现447个淋巴结。262个淋巴结呈ICG阳性,181个淋巴结为ICG阴性。高风险患者158/259(61.0%)的ICG阳性率高于中/低风险患者104/188(55.3%)。没有统计学意义的结果,但在所有ICG阳性组织中都能发现淋巴结。有12名患者在RARP后显示出较高的Gleason分级组,有2名患者在RA后显示出较低的Gleasoon分级组。有18例患者在RARP后出现升级期,4例患者在RARP后出现下降期。结论:对于无淋巴结或远处转移的前列腺癌患者,膀胱镜引导下的ICG注射加荧光淋巴管造影有助于在RARP中识别盆腔淋巴结。
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引用次数: 0
Early diagnosis of CYP17A1 compound heterozygous mutations in a 46, XY child with disorders of sexual development 46,xy性发育障碍儿童CYP17A1复合杂合突变的早期诊断
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_43_20
Wison Laochareonsuk, S. Jaruratanasirikul, Wanwisa Maneechay, S. Sangkhathat
17-Hydroxylase/17,20-lyase deficiency is a rare congenital disorder accounting for 1% of congenital adrenal hyperplasia. This disease is recessively expressed as autosomal inheritance through mutations in the CYP17A1 gene, leading to defective levels of glucocorticoids and sex hormones. Individuals with loss-of-function mutations usually present with phenotypic female genitalia, primary amenorrhea, or hypertension in puberty caused by excessive production of mineralocorticoids. In this report, we describe a girl with CYP17A1 mutations diagnosed even though the pathognomonic symptoms had not developed. Herein, we report a case of a 3-year-old girl who prenatally diagnosed as a 46, XY female. After birth, the baby had normal female-type external genitalia without symptoms. She underwent a gonadectomy at the age of 3 years. To explore the pathogenesis of her condition, her genomic data were reviewed for genes involved in disorders of sexual differentiation (DSDs) using high-throughput sequence data from a whole-exome study. Pathogenic variants causing frameshift mutation involving codon 329 of CYP17A1 and a concomitant missense mutation involving codon 358 of the same gene were detected, mutations which are likely to result in loss of function of the enzyme. Each mutation was inherited from each of the parents, both holding carrier status. In addition, her younger sister (46, XX) acquired those identical variants without any abnormal phenotypical traits. Loss-of-function mutations of CYP17A1 which may cause secondary hypertension are not commonly identified in early life because of the wide spectrum of clinical manifestations and various pathophysiologies, which manifest in different sexes. Affected cases usually present later in life with hypertension or primary amenorrhea. High-throughput sequencing is suggested in DSD cases as it may give a precise diagnosis, enabling a proactive treatment plan and prevention of sequelae that potentially occur in puberty.
17-羟化酶/17,20-裂解酶缺乏症是一种罕见的先天性疾病,占先天性肾上腺增生的1%。这种疾病通过CYP17A1基因突变隐性表达为常染色体遗传,导致糖皮质激素和性激素水平缺陷。具有功能丧失突变的个体通常表现为表现型女性生殖器、原发性闭经或由矿物皮质激素过量产生引起的青春期高血压。在这个报告中,我们描述了一个女孩CYP17A1突变诊断,即使病理症状没有发展。在此,我们报告一例3岁女孩产前诊断为46,xy女性。出生后,婴儿具有正常的女性型外生殖器,无症状。她在3岁时接受了性腺切除术。为了探索她的发病机制,我们利用全外显子组研究的高通量序列数据,对她的基因组数据进行了审查,以寻找与性别分化障碍(dsd)相关的基因。检测到引起涉及CYP17A1密码子329的移码突变的致病变异和同时涉及同一基因密码子358的错义突变,这些突变可能导致酶的功能丧失。每个突变都遗传自父母双方,双方都是携带者。此外,她的妹妹(46岁,XX)也获得了这些相同的变异,但没有任何异常的表型特征。CYP17A1的功能丧失突变可能导致继发性高血压,由于其临床表现广泛,病理生理多样,且在不同性别中表现出来,因此在生命早期通常不被发现。受影响的病例通常在晚年出现高血压或原发性闭经。建议对DSD病例进行高通量测序,因为它可以给出精确的诊断,从而可以积极的治疗计划和预防可能发生在青春期的后遗症。
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引用次数: 0
Can cavernous nerves be spared after radical prostatectomy? Evidence from animal studies 根治性前列腺切除术后海绵状神经能保留吗?来自动物研究的证据
IF 0.5 Q4 UROLOGY & NEPHROLOGY Pub Date : 2021-01-01 DOI: 10.4103/UROS.UROS_110_20
H. Chiang, Meng-Lin Chang, Yi-No Wu
Purpose: The current study aims at evaluating penile erectile function after nerve-sparing radical prostatectomy (RP) based on evidence from a reliable animal model. The previous model in which the cavernous nerve (CN) is temporarily crushed is reviewed and compared to the present method of prostate lobes removal near the CN to determine which is more relevant to the clinical situation. Materials and Methods: Twenty-four rats were divided into three groups. One group was subjected to temporary CN crushing, one group was subject to prostate lobes removal near the CN, and the last group was preserved (sham group). All rats were re-examined at 4 weeks after the first surgical procedure. The pathological changes of the CNs were evaluated by their gross appearance and immunohistochemistry. Intracavernosal pressure (ICP) was measured as a parameter of male erectile function. Results: The results of the current study demonstrate that the removal of the prostate lobes near the CN led to the degeneration of CN, even with careful sparing techniques. Four weeks after the first surgical procedure, the rats' abdomens were reopened, and CNs were identified in only 60% of the rats with prostate lobes removal near the CN. Furthermore, the remaining CNs in this group were found to be histologically degenerated, with poorer erectile function presented by ICP. In contrast, the CNs after temporary crush were only mildly injured and demyelinated, with evidence of regeneration. The changes in the rats with prostate lobes removal near the CN are much more similar to those in rats with clinical RP with CN sparing. Conclusion: The current study concluded that, in the rat model, CNs will be injured, degenerated, and eventually disappear after prostate lobes removal near the CN; this is very similar to what is observed in clinical RP. Protection of the CNs for erectile function preservation should be investigated further using this animal model.
目的:本研究旨在根据可靠动物模型的证据,评估保留神经的前列腺癌根治术(RP)后的阴茎勃起功能。回顾了先前海绵状神经(CN)被暂时挤压的模型,并将其与目前去除CN附近前列腺叶的方法进行了比较,以确定哪种方法与临床情况更相关。材料与方法:将24只大鼠随机分为三组。一组接受临时CN挤压,一组接受CN附近前列腺叶切除,最后一组保留(假手术组)。所有大鼠在第一次手术后4周再次检查。通过大体外观和免疫组织化学方法评价CNs的病理变化。平均动脉压(ICP)被测量为男性勃起功能的一个参数。结果:目前的研究结果表明,即使采用谨慎的保留技术,切除CN附近的前列腺叶也会导致CN退化。第一次手术后四周,大鼠的腹部重新开放,在CN附近切除前列腺叶的大鼠中,只有60%的大鼠发现CN。此外,该组中剩余的CN在组织学上退化,ICP显示勃起功能较差。相反,暂时挤压后的CNs仅轻度损伤和脱髓鞘,有再生的证据。切除CN附近前列腺叶的大鼠与保留CN的临床RP大鼠的变化更相似。结论:目前的研究得出结论,在大鼠模型中,CN在CN附近的前列腺叶切除后会损伤、退化,并最终消失;这与临床RP中观察到的非常相似。应使用该动物模型进一步研究CNs对勃起功能保护的作用。
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引用次数: 1
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Urological Science
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