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CASR, CLDN 14, ALPL & SLC34A1 genes are associated with the risk of nephrolithiasis in Egyptian children. CASR、CLDN 14、ALPL和SLC34A1基因与埃及儿童肾结石风险相关。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-24 DOI: 10.1016/j.jpurol.2024.12.017
Fatina I Fadel, Manal F Elshamaa, Mervat Ismail, Alaa Rashad, Ashraf Galal, Solaf Kamel, Eman Awadallah, Rasha Nazeeh, Eman Mahmoud, Yasmin Ramadan
<p><strong>Backgrounds: </strong>The pathophysiology of nephrolithiasis is complex, influenced by both environmental and genetic factors. Calcium is the most prevalent metabolite present in the stone matrix. Stimulating the basolateral calcium sensing receptor (CASR) in the renal tubules leads to an increase in claudin-14 expression, reducing paracellular calcium permeability and increasing urinary Ca<sup>2+</sup> excretion. Alkaline phosphatase (ALPL) hydrolyzes the pyrophosphate to free phosphate, proposing its potential role in nephrolithiasis development. Solute carrier family 34 member 1 (SLC34A1) encodes Na+-Pi cotransporter 2a, playing a key role in renal absorption of phosphate. We aimed to detect the risk of CASR, CLDN14, ALPL, and SLC34A1 gene polymorphisms on the development of nephrolithiasis in the Egyptian children.</p><p><strong>Methods: </strong>We enrolled 143 children diagnosed with nephrolithiasis and 112 healthy controls. Real-time polymerase chain reaction analysis of CASR (rs1801725 G/T & rs73186030 C/T), CLDN14 (rs219780 C/T & rs199565725 AC/del), ALPL (rs149344982 A/G, rs1976403 A/C & rs1256328 C/T), and SLC34A1 (rs11746443 G/A) single-nucleotide polymorphisms (SNPs) were performed.</p><p><strong>Results: </strong>We observed that children carrying the T allele of CASR rs1801725, CLDN14 rs219780, and ALPL rs1256328 SNPs were at a greater risk of nephrolithiasis compared to the control group (p = 0.003, p < 0.001, and p = 0.001, respectively). The children with the del allele of CLDN14 rs199565725 and the ALPL rs1976403 C allele had a significantly higher risk of developing nephrolithiasis compared to the control group (p = 0.007 & p = 0.001, respectively). The individuals who have the A allele of ALPL rs149344982 and SLC34A1 rs11746443 had a significantly higher risk of nephrolithiasis compared to the control group (p < 0.001). We found that CLDN14 rs219780 CT, ALPL rs149344982 AG, ALPL rs1256328 TT, and SLC34A1 rs11746443 GA genotypes were the final predictors of nephrolithiasis in children (p < 0.05). Individuals with ATAT and GTAT haplotypes had approximately a 29- and 19-fold increased risk of nephrolithiasis.</p><p><strong>Discussion: </strong>Nephrolithiasis is a complex disease caused by genetic and environmental factors. It would be beneficial if, among patients with recurrent kidney stones, the nephrologists could identify patients at high risk who would benefit from personalized therapy, a controlled lifestyle, and regular check-ups using the necessary investigation. There are several gene polymorphisms that were identified as the risk factor for developing nephrolithiasis. We found that CASR rs1801725 G/T, CLDN14 rs199565725 AC/del & rs219780 C/T, ALPL rs149344982 A/G, rs1976403 A/C & rs1256328 C/T, SLC34A1 rs11746443 G/A were associated with an increased risk of nephrolithiasis in Egyptian children. The study limitations include a lack of detailed information on nephrolithiasis risk factors such as diet and bod
背景:肾结石的病理生理是复杂的,受环境和遗传因素的影响。钙是石基质中最常见的代谢物。刺激肾小管的基底外侧钙敏感受体(CASR)导致claudin-14表达增加,降低细胞旁钙通透性,增加尿Ca2+排泄。碱性磷酸酶(ALPL)将焦磷酸盐水解为游离磷酸盐,提示其在肾结石发展中的潜在作用。溶质载体家族34成员1 (SLC34A1)编码Na+-Pi共转运蛋白2a,在肾脏吸收磷酸盐中起关键作用。我们的目的是检测CASR、CLDN14、ALPL和SLC34A1基因多态性在埃及儿童肾结石发生中的风险。方法:我们招募了143名诊断为肾结石的儿童和112名健康对照。实时聚合酶链反应分析CASR (rs1801725 G/T和rs73186030 C/T)、CLDN14 (rs219780 C/T和rs199565725 AC/del)、ALPL (rs149344982 A/G、rs1976403 A/C和rs1256328 C/T)和SLC34A1 (rs11746443 G/A)单核苷酸多态性(snp)。结果:我们观察到携带CASR rs1801725、CLDN14 rs219780和ALPL rs1256328 snp的儿童患肾结石的风险高于对照组(p = 0.003, p)。讨论:肾结石是一种遗传和环境因素共同作用的复杂疾病。如果在复发性肾结石患者中,肾病学家能够识别出高危患者,这些患者将受益于个性化治疗、控制生活方式和通过必要的调查进行定期检查,这将是有益的。有几个基因多态性被确定为发生肾结石的危险因素。我们发现CASR rs1801725 G/T、CLDN14 rs199565725 AC/del和rs219780 C/T、ALPL rs149344982 A/G、rs1976403 A/C和rs1256328 C/T、SLC34A1 rs11746443 G/A与埃及儿童肾结石风险增加相关。该研究的局限性包括缺乏肾结石风险因素的详细信息,如饮食和体重指数。结论:CLDN14 rs219780 CT、ALPL rs149344982 AG、ALPL rs1256328 TT、SLC34A1 rs11746443 GA基因型是儿童肾结石的最终预测因子。
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引用次数: 0
The utility of a sensitive genitourinary exam in the management of pediatric bowel and bladder dysfunction. 敏感泌尿生殖系统检查在小儿肠道和膀胱功能障碍管理中的应用。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-24 DOI: 10.1016/j.jpurol.2024.12.016
Lindsey Austenfeld, Lacy Dillon, Jennika Finup, Janelle Noel-MacDonell, Azadeh Wickham

Introduction: Bladder and bowel dysfunction (BBD) is a commonly experienced disorder that can cause adverse physical and psychological impacts on a child and their family.

Objective: This study aimed to assess the yield of clinically significant sensitive genitourinary (GU) examination findings and whether findings influence BBD management.

Methods: A cross-sectional, descriptive, correlational research design was used to study the relationship between GU examination findings and management of pediatric BBD. Data captured were baseline characteristics, urinary symptoms, GU examination findings, and required interventions. Clinically significant GU examination findings were defined as abnormalities requiring medical management such as prescription medications, in-office surgical procedures, or operating room surgical procedures. The primary outcome of interest included GU examination findings and treatments for additional diagnosis discovered during the physical examination. Clopper-Pearson 95 % confidence intervals (CI) were calculated for GU interventions needed for each exam outcome type. Fisher's Exact test was used to determine an association between GU examination findings and additional interventions.

Results: Sixty-six patients met inclusion criteria. 91 % (n = 60) had GU examination findings within normal limits and no one (0 %, 95 % CI: 0.000, 0.059) required an additional intervention. 9 % (n = 6) returned with abnormal findings. Five (83 %0.95 % CI: 0.359, 0.996) of the patients with abnormal GU examination findings required an intervention such as a procedure, prescribed medication, or surgery.

Discussion: The literature suggests normal anatomy in 98 % of children with BBD, while 91 % of our study cohort demonstrated normal exam findings. Patients with abnormal findings were offered interventions that are not considered standard BBD care. Nearly all patients with an abnormal examination chose to proceed with an intervention to address the abnormal finding. Previous BBD studies have not explicitly mentioned genital assessments or the significance of a GU examination. Current literature lacks standardization of physical exam components during BBD visits, however, many agree that a detailed clinical history is essential in diagnosing BBD. For patients with refractory BBD who are not improving with standard care, an in-person GU examination would be warranted. Additionally, radiologic imaging should be considered for patients who do not respond to initial therapies.

Conclusion: Our study demonstrates that the rate of clinically significant examination findings during BBD visits is low. Omitting GU examinations does not appear to compromise the quality of care.

简介:膀胱和肠道功能障碍(BBD)是一种常见的疾病,可对儿童及其家庭造成不利的生理和心理影响。目的:本研究旨在评估具有临床意义的敏感泌尿生殖系统(GU)检查结果的发生率,以及这些结果是否影响BBD的治疗。方法:采用横断面、描述性、相关性研究设计,研究GU检查结果与儿童BBD治疗之间的关系。收集的数据包括基线特征、泌尿系统症状、GU检查结果和所需的干预措施。临床上重要的GU检查结果被定义为需要医疗管理的异常,如处方药物、办公室外科手术或手术室外科手术。主要结果包括GU检查结果和在体检中发现的附加诊断的治疗方法。计算每种检查结果类型所需的GU干预措施的Clopper-Pearson 95%置信区间(CI)。Fisher’s Exact检验用于确定GU检查结果与额外干预措施之间的关系。结果:66例患者符合纳入标准。91% (n = 60)的GU检查结果在正常范围内,没有人(0%,95% CI: 0.000, 0.059)需要额外的干预。9% (n = 6)出现异常。5例(83% - 0.95% CI: 0.359, 0.996) GU检查结果异常的患者需要干预,如手术、处方药物或手术。讨论:文献表明98%的BBD患儿解剖正常,而我们的研究队列中91%的检查结果正常。有异常发现的患者被提供不被认为是标准BBD治疗的干预措施。几乎所有异常检查的患者都选择进行干预以解决异常发现。以前的BBD研究没有明确提到生殖器评估或GU检查的意义。目前的文献缺乏对BBD就诊时体格检查内容的标准化,然而,许多人认为详细的临床病史对诊断BBD至关重要。对于难治性BBD患者,如果在标准治疗下没有改善,则需要进行面对面的GU检查。此外,对于最初治疗无效的患者,应考虑放射学成像。结论:我们的研究表明,BBD就诊时具有临床意义的检查结果的比率很低。忽略GU检查似乎并不影响护理质量。
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引用次数: 0
The mini-flank lumbotomy for pyeloplasty in association with the Ottoni pyelostent: An inexpensive and efficient combination. 小型腰腹切开术联合Ottoni肾盂成形术:一种廉价而有效的组合。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-20 DOI: 10.1016/j.jpurol.2024.12.015
Antonio Macedo, Ana Clara Esteves Ottoni, Débora Laena Barroso Sacoman, José Renato Azevedo Araújo, Marcela Leal da Cruz, Sérgio Leite Ottoni

Pyeloplasty at an early age (<2 years) can be treated by a flank open, laparoscopy or robotic approach. We want to demonstrate our strategy and how to construct a very inexpensive pyelostent from a Foley tube. The Ottoni catheter is made from a Foley tube, sectioning the proximal end keeping a plastic circular basement for fixation to the skin. Surgery consists of a small classical lumbar flank incision proportional to a thumb finger in length. The Ottoni catheter is placed as an external stent (Fig 3). Patients stay in hospital overnight and remove the stent after 4 days PO.

早期肾盂成形术(
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引用次数: 0
Exploring AI: Transforming medical practice, education and research. 探索人工智能:改变医疗实践、教育和研究。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-19 DOI: 10.1016/j.jpurol.2024.12.013
Bernhard Haid, Caleb Nelson, M İrfan Dönmez, Salvatore Cascio, Massimo Garriboli, Anka Nieuwhof-Leppink, Christina Ching, Luis H Braga, Ilina Rosklija, Luke Harper
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引用次数: 0
Emergency department utilization patterns for pediatric urinary stone patients in the United States. 美国儿科泌尿系结石患者的急诊科使用模式
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-17 DOI: 10.1016/j.jpurol.2024.12.007
Naeem Bhojani, Jonathan S Ellison, Larry E Miller, Samir Bhattacharyya, Gregory E Tasian

Background: The prevalence of pediatric urolithiasis has increased rapidly, leading to more emergency department (ED) visits across the United States.

Objective: The purpose of this study was to determine emergency care practices for children and adolescents with urinary stones and characteristics associated with management.

Methods: We performed a cross-sectional study of the 2021 Nationwide Emergency Department Sample to identify pediatric patients (≤21 years) presenting to an ED in the United States with a primary diagnosis of urinary stone disease. The primary outcome was patient disposition. Multivariable logistic regression was used to identify patient and hospital characteristics associated with hospital admission. Imaging utilization was a secondary outcome of the study.

Results: There were 57 pediatric ED visits for urinary stone disease per 100,000 population in the study (mean age 17.7 years; 59.6 % female). Most patients (91.2 %) were treated and discharged, while 6.9 % were admitted to the same hospital. Computed tomography was the primary imaging modality (60.2 %), with utilization increasing with age. Considerable variability in disposition and imaging utilization was observed, with hospital admission rates ranging from 1.3 % to 55.1 % and CT use from 1.7 % to 77.5 % among patient and hospital subgroups.

Conclusions: This study reveals a high rate of pediatric urinary stone presentations to United States EDs. Significant variations in disposition and imaging utilization across different patient and hospital characteristics highlight the need for standardized, evidence-based approaches to pediatric urinary stone care.

背景:儿童尿石症的患病率迅速增加,导致美国各地急诊科(ED)访问量增加。目的:本研究的目的是确定患有尿路结石的儿童和青少年的急诊护理实践和与管理相关的特征。方法:我们对2021年全国急诊科样本进行了一项横断面研究,以确定初步诊断为泌尿系结石疾病的美国急诊科儿科患者(≤21岁)。主要结果是患者的情绪。多变量逻辑回归用于确定与住院相关的患者和医院特征。影像利用是研究的次要结果。结果:在这项研究中,每10万人中有57名儿童因尿路结石就诊(平均年龄17.7岁;女性占59.6%)。大多数患者(91.2%)得到治疗并出院,而6.9%的患者在同一家医院住院。计算机断层扫描是主要的成像方式(60.2%),其使用率随着年龄的增长而增加。观察到患者和医院亚组在处置和成像利用方面存在相当大的差异,住院率从1.3%到55.1%不等,CT使用率从1.7%到77.5%不等。结论:本研究揭示了美国急诊科儿童尿路结石的高发率。不同患者和医院特征的处置和成像利用的显著差异突出了对标准化、循证方法的儿科尿路结石护理的需求。
{"title":"Emergency department utilization patterns for pediatric urinary stone patients in the United States.","authors":"Naeem Bhojani, Jonathan S Ellison, Larry E Miller, Samir Bhattacharyya, Gregory E Tasian","doi":"10.1016/j.jpurol.2024.12.007","DOIUrl":"https://doi.org/10.1016/j.jpurol.2024.12.007","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of pediatric urolithiasis has increased rapidly, leading to more emergency department (ED) visits across the United States.</p><p><strong>Objective: </strong>The purpose of this study was to determine emergency care practices for children and adolescents with urinary stones and characteristics associated with management.</p><p><strong>Methods: </strong>We performed a cross-sectional study of the 2021 Nationwide Emergency Department Sample to identify pediatric patients (≤21 years) presenting to an ED in the United States with a primary diagnosis of urinary stone disease. The primary outcome was patient disposition. Multivariable logistic regression was used to identify patient and hospital characteristics associated with hospital admission. Imaging utilization was a secondary outcome of the study.</p><p><strong>Results: </strong>There were 57 pediatric ED visits for urinary stone disease per 100,000 population in the study (mean age 17.7 years; 59.6 % female). Most patients (91.2 %) were treated and discharged, while 6.9 % were admitted to the same hospital. Computed tomography was the primary imaging modality (60.2 %), with utilization increasing with age. Considerable variability in disposition and imaging utilization was observed, with hospital admission rates ranging from 1.3 % to 55.1 % and CT use from 1.7 % to 77.5 % among patient and hospital subgroups.</p><p><strong>Conclusions: </strong>This study reveals a high rate of pediatric urinary stone presentations to United States EDs. Significant variations in disposition and imaging utilization across different patient and hospital characteristics highlight the need for standardized, evidence-based approaches to pediatric urinary stone care.</p>","PeriodicalId":16747,"journal":{"name":"Journal of Pediatric Urology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A quality assessment of YouTube content on posterior urethral valve. 后尿道瓣膜YouTube内容质量评价。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-17 DOI: 10.1016/j.jpurol.2024.12.011
Furkan Gunay, Caglar Dizdaroglu, Abdullah Esmeray, Mucahit Gelmis

Introduction: Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications. Effective communication of follow-up and treatment protocols with families is crucial, as informed patients play an active role in decision-making and experience less anxiety.

Methods: A cross-sectional study was conducted on June 20, 2024, by searching YouTube with the keyword "posterior urethral valve." From the first 120 videos, 60 were excluded for being off-topic, duplicates, non-English, or lacking audio. The remaining 60 videos were analyzed for views, duration, comments, likes, and upload source. Video content was categorized into general information, ultrasound imaging, case discussion, and surgical teaching. Two independent urology specialists evaluated the video quality using DISCERN and JAMA Benchmark Criteria.

Results: Of the 60 analyzed videos, 71.6 % were uploaded by physicians. The most common content was general information on symptoms and treatment. The mean JAMA score was 2.45, and the mean DISCERN score was 45.8. According to DISCERN, 8.3 % of videos were "very poor," 25 % were "poor," 30 % were "fair," 11.6 % were "good," and 23 % were "excellent." Videos uploaded by physicians had significantly higher DISCERN reliability and total scores, indicating better quality. No significant correlation was found between DISCERN scores and likes, comments, or views, but video duration was positively correlated with higher scores.

Discussion: Among the analyzed videos, those uploaded by physicians had significantly higher DISCERN total scores, emphasizing their superior quality compared to other sources. Video duration positively correlated with DISCERN and JAMA scores, while metrics such as likes, comments, and views did not reflect content quality.

Conclusion: Creating evidence-based, clear, and engaging content that follows DISCERN and JAMA criteria is essential. Future studies should explore animated formats, diverse keywords, and track content trends over time.

简介:后尿道瓣膜(PUV)是一种先天性疾病,其特征是持续阻塞泌尿生殖膜,导致尿路感染、膀胱功能障碍和肾脏损害。它只影响男性,大多在产前怀疑并在婴儿早期确诊。它需要早期诊断和干预,以防止长期并发症。与家属有效沟通随访和治疗方案是至关重要的,因为知情的患者在决策中发挥积极作用,并减少焦虑。方法:于2024年6月20日在YouTube上搜索关键词“后尿道瓣膜”,进行横断面研究。从最初的120个视频中,有60个因偏离主题、重复、非英语或缺乏音频而被排除在外。剩下的60个视频被分析了观看次数、持续时间、评论、点赞和上传来源。视频内容分为一般信息、超声影像、病例讨论和手术教学。两位独立的泌尿科专家使用DISCERN和JAMA基准标准评估视频质量。结果:在分析的60个视频中,71.6%是由医生上传的。最常见的内容是关于症状和治疗的一般信息。JAMA平均评分为2.45分,DISCERN平均评分为45.8分。根据DISCERN, 8.3%的视频“非常差”,25%“差”,30%“一般”,11.6%“好”,23%“优秀”。医生上传的视频在DISCERN信度和总分上有显著提高,表明视频质量更好。在DISCERN分数与喜欢、评论或观看之间没有发现显著的相关性,但视频时长与更高的分数呈正相关。讨论:在分析的视频中,医生上传的视频在DISCERN总分中得分明显更高,强调了其质量优于其他来源。视频时长与DISCERN和JAMA评分呈正相关,而点赞、评论和观看等指标并不能反映内容质量。结论:根据DISCERN和JAMA标准创建基于证据的、清晰的、引人入胜的内容是必不可少的。未来的研究应该探索动画格式,多样化的关键词,并随着时间的推移跟踪内容趋势。
{"title":"A quality assessment of YouTube content on posterior urethral valve.","authors":"Furkan Gunay, Caglar Dizdaroglu, Abdullah Esmeray, Mucahit Gelmis","doi":"10.1016/j.jpurol.2024.12.011","DOIUrl":"https://doi.org/10.1016/j.jpurol.2024.12.011","url":null,"abstract":"<p><strong>Introduction: </strong>Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications. Effective communication of follow-up and treatment protocols with families is crucial, as informed patients play an active role in decision-making and experience less anxiety.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on June 20, 2024, by searching YouTube with the keyword \"posterior urethral valve.\" From the first 120 videos, 60 were excluded for being off-topic, duplicates, non-English, or lacking audio. The remaining 60 videos were analyzed for views, duration, comments, likes, and upload source. Video content was categorized into general information, ultrasound imaging, case discussion, and surgical teaching. Two independent urology specialists evaluated the video quality using DISCERN and JAMA Benchmark Criteria.</p><p><strong>Results: </strong>Of the 60 analyzed videos, 71.6 % were uploaded by physicians. The most common content was general information on symptoms and treatment. The mean JAMA score was 2.45, and the mean DISCERN score was 45.8. According to DISCERN, 8.3 % of videos were \"very poor,\" 25 % were \"poor,\" 30 % were \"fair,\" 11.6 % were \"good,\" and 23 % were \"excellent.\" Videos uploaded by physicians had significantly higher DISCERN reliability and total scores, indicating better quality. No significant correlation was found between DISCERN scores and likes, comments, or views, but video duration was positively correlated with higher scores.</p><p><strong>Discussion: </strong>Among the analyzed videos, those uploaded by physicians had significantly higher DISCERN total scores, emphasizing their superior quality compared to other sources. Video duration positively correlated with DISCERN and JAMA scores, while metrics such as likes, comments, and views did not reflect content quality.</p><p><strong>Conclusion: </strong>Creating evidence-based, clear, and engaging content that follows DISCERN and JAMA criteria is essential. Future studies should explore animated formats, diverse keywords, and track content trends over time.</p>","PeriodicalId":16747,"journal":{"name":"Journal of Pediatric Urology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The impact of artifact levels on intra- and interobserver agreement in pediatric urodynamic traces. 伪影水平对儿童尿动力学轨迹内和观察者间一致性的影响。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-15 DOI: 10.1016/j.jpurol.2024.12.010
Arzu Canmemis, Seyhmus K Ozel

Introduction: In pediatric urology, urodynamic studies are considered the most reliable method for assessing the function of the lower urinary tract. These evaluations play a particularly important role in guiding treatment decisions for neurogenic bladder conditions.

Objective: The aim of this study is to assess the impact of artifacts on the interobserver and intraobserver agreement in the interpretation of pediatric urodynamic traces.

Methods: Two pediatric urology experts, each with a broad spectrum of clinical expertise, conducted a thorough retrospective analysis of the urodynamic tracings. This evaluation was independently performed by the specialists on two separate occasions, with a three-month interval between sessions. The patients were categorized into three groups based on the quality of their recordings: Group 1: No artifacts (n = 30), Group 2: 1-5 artifacts (n = 30), Group 3: More than 5 artifacts (n = 30).

Results: A total of 90 patients were included in our study, with each group comprising 30 participants. Observer 1's initial and fourth-month measurements by groups, a statistically significant difference was found between the initial MDP measurement values of the cases according to the groups (p = 0.012). High interobserver agreement was observed for EBC, CBC, MDP, and Q max variables across all groups (p < 0.001 for each comparison). In intra-observer agreement for qualitative assessments (compliance, detrusor function, character of overactivity, and DSD), Observer 2 demonstrated lower agreement in groups 2 and 3. Group 3, which had urodynamics with a lot of artifacts, was the group with the lowest agreement values.

Discussion: Few studies in the literature assess the intra- and interobserver agreement of urodynamic studies, with reported variations. Venhola et al. and Zimmern et al. found inconsistent interpretations among observers. Quantitative assessments showed higher reliability than qualitative ones. Our study aligns with these findings, indicating variability due to artifacts and differing interpretations of detrusor overactivity.

Conclusion: Artifacts significantly impact interobserver and intraobserver agreement in pediatric urodynamic studies. While quantitative parameters showed higher agreement, particularly in recordings with fewer artifacts, the presence of numerous artifacts in Group 3 led to decreased consistency in evaluations.

Type of study: Retrospective observational study.

导读:在儿科泌尿学中,尿动力学研究被认为是评估下尿路功能最可靠的方法。这些评估在指导神经源性膀胱疾病的治疗决策中起着特别重要的作用。目的:本研究的目的是评估在解释儿童尿动力学痕迹时,伪影对观察者之间和观察者内部一致性的影响。方法:两位具有广泛临床专业知识的儿科泌尿科专家对尿动力学追踪进行了全面的回顾性分析。这项评估是由专家在两个不同的场合独立进行的,每次会议之间间隔三个月。根据录音质量将患者分为三组:第一组:无伪影(n = 30),第二组:1-5伪影(n = 30),第三组:超过5个伪影(n = 30)。结果:本研究共纳入90例患者,每组30例。观察者1的初始和第4个月的分组测量,各组病例的初始MDP测量值之间存在统计学差异(p = 0.012)。在所有组中观察到EBC、CBC、MDP和Q max变量的高度一致(p讨论:文献中很少有研究评估尿动力学研究的观察者内部和观察者之间的一致性,报告存在差异。Venhola et al.和Zimmern et al.发现观察者之间的解释不一致。定量评价的信度高于定性评价。我们的研究与这些发现一致,表明了人为因素和对逼尿肌过度活动的不同解释造成的差异。结论:伪影显著影响儿童尿动力学研究中观察者之间和观察者内部的一致性。虽然定量参数显示出较高的一致性,特别是在人工制品较少的记录中,但第3组中大量人工制品的存在导致评估一致性降低。研究类型:回顾性观察研究。
{"title":"The impact of artifact levels on intra- and interobserver agreement in pediatric urodynamic traces.","authors":"Arzu Canmemis, Seyhmus K Ozel","doi":"10.1016/j.jpurol.2024.12.010","DOIUrl":"https://doi.org/10.1016/j.jpurol.2024.12.010","url":null,"abstract":"<p><strong>Introduction: </strong>In pediatric urology, urodynamic studies are considered the most reliable method for assessing the function of the lower urinary tract. These evaluations play a particularly important role in guiding treatment decisions for neurogenic bladder conditions.</p><p><strong>Objective: </strong>The aim of this study is to assess the impact of artifacts on the interobserver and intraobserver agreement in the interpretation of pediatric urodynamic traces.</p><p><strong>Methods: </strong>Two pediatric urology experts, each with a broad spectrum of clinical expertise, conducted a thorough retrospective analysis of the urodynamic tracings. This evaluation was independently performed by the specialists on two separate occasions, with a three-month interval between sessions. The patients were categorized into three groups based on the quality of their recordings: Group 1: No artifacts (n = 30), Group 2: 1-5 artifacts (n = 30), Group 3: More than 5 artifacts (n = 30).</p><p><strong>Results: </strong>A total of 90 patients were included in our study, with each group comprising 30 participants. Observer 1's initial and fourth-month measurements by groups, a statistically significant difference was found between the initial MDP measurement values of the cases according to the groups (p = 0.012). High interobserver agreement was observed for EBC, CBC, MDP, and Q max variables across all groups (p < 0.001 for each comparison). In intra-observer agreement for qualitative assessments (compliance, detrusor function, character of overactivity, and DSD), Observer 2 demonstrated lower agreement in groups 2 and 3. Group 3, which had urodynamics with a lot of artifacts, was the group with the lowest agreement values.</p><p><strong>Discussion: </strong>Few studies in the literature assess the intra- and interobserver agreement of urodynamic studies, with reported variations. Venhola et al. and Zimmern et al. found inconsistent interpretations among observers. Quantitative assessments showed higher reliability than qualitative ones. Our study aligns with these findings, indicating variability due to artifacts and differing interpretations of detrusor overactivity.</p><p><strong>Conclusion: </strong>Artifacts significantly impact interobserver and intraobserver agreement in pediatric urodynamic studies. While quantitative parameters showed higher agreement, particularly in recordings with fewer artifacts, the presence of numerous artifacts in Group 3 led to decreased consistency in evaluations.</p><p><strong>Type of study: </strong>Retrospective observational study.</p>","PeriodicalId":16747,"journal":{"name":"Journal of Pediatric Urology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of maternal and fetal outcomes in pregnancies with maternal solitary kidney: A case-control study from a tertiary center. 评估母亲孤立肾妊娠的母胎结局:来自三级中心的病例对照研究。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-14 DOI: 10.1016/j.jpurol.2024.12.009
Zahid Agaoglu, Atakan Tanacan, Ezgi Basaran, Elif Okutan, Merve Ozturk Agaoglu, Goksun Ipek, Ozgur Kara, Dilek Sahin

Introduction: There exists a prevailing concern regarding the heightened susceptibility of women with a solitary kidney to unfavorable consequences during pregnancy. Irrespective of the underlying etiology, individuals with a solitary kidney are advised to have regular annual screenings for blood pressure and urinalysis due to their increased susceptibility to developing proteinuria, hypertension, and renal failure.

Objective: To investigate the risk of adverse pregnancy outcomes in women with a maternal solitary kidney by comparing maternal and fetal outcomes to those of healthy pregnant women.

Methods: This retrospective, single-center study was conducted with 29 pregnant women with maternal solitary kidney and 60 healthy controls at a tertiary hospital. Obstetric data such as gestational hypertension, preeclampsia, preterm labor, birth week, mode of delivery, Apgar scores, and neonatal intensive care requirements, were compared between the groups. A binary logistic regression analysis was performed to determine the obstetric complications increased by the presence of maternal solitary kidney.

Results: The number of spontaneous abortions, serum creatinine and blood urea nitrogen levels were significantly higher in the patients with solitary kidney (p < 0.05). The birth week was earlier among the patients with a solitary kidney compared to the controls (p = 0.013). The preterm and cesarean delivery rates were also higher in the case group (p = 0.002 and p = 0.035, respectively). The pregnant women with solitary kidney were found to have higher rates of gestational hypertension, preeclampsia, and maternal intensive care requirements (p = 0.008, p = 0.015, and p = 0.008, respectively). Logistic regression analysis revealed a seven-fold increase in the rate of preterm labor (1.45-37.64) and a three-fold increase in preeclampsia (1.27-22.08) among the pregnant women with a solitary kidney.

Conclusion: Patients with solitary kidney are at high risk of encountering pregnancy complications, such as gestational hypertension, preeclampsia, and preterm labor. These pregnant women should be followed up carefully, starting from the first prenatal visit.

导读:目前普遍关注的是,妊娠期单肾妇女对不良后果的易感性增高。无论潜在的病因如何,建议孤立肾患者每年定期进行血压和尿液筛查,因为他们对蛋白尿、高血压和肾衰竭的易感性增加。目的:通过与健康孕妇的母胎结局比较,探讨产妇孤立肾不良妊娠结局的风险。方法:回顾性、单中心研究,选取某三级医院29例产妇孤立性肾孕妇和60例健康对照。产科数据,如妊娠期高血压、先兆子痫、早产、出生周、分娩方式、Apgar评分和新生儿重症监护要求,在两组之间进行比较。采用二元logistic回归分析,以确定产妇孤立肾的存在增加了产科并发症。结果:孤立肾患者的自然流产次数、血清肌酐、血尿素氮水平均显著增高(p)。结论:孤立肾患者发生妊娠高血压、先兆子痫、早产等妊娠并发症的风险较高。这些孕妇应该从第一次产前检查开始仔细随访。
{"title":"Evaluation of maternal and fetal outcomes in pregnancies with maternal solitary kidney: A case-control study from a tertiary center.","authors":"Zahid Agaoglu, Atakan Tanacan, Ezgi Basaran, Elif Okutan, Merve Ozturk Agaoglu, Goksun Ipek, Ozgur Kara, Dilek Sahin","doi":"10.1016/j.jpurol.2024.12.009","DOIUrl":"https://doi.org/10.1016/j.jpurol.2024.12.009","url":null,"abstract":"<p><strong>Introduction: </strong>There exists a prevailing concern regarding the heightened susceptibility of women with a solitary kidney to unfavorable consequences during pregnancy. Irrespective of the underlying etiology, individuals with a solitary kidney are advised to have regular annual screenings for blood pressure and urinalysis due to their increased susceptibility to developing proteinuria, hypertension, and renal failure.</p><p><strong>Objective: </strong>To investigate the risk of adverse pregnancy outcomes in women with a maternal solitary kidney by comparing maternal and fetal outcomes to those of healthy pregnant women.</p><p><strong>Methods: </strong>This retrospective, single-center study was conducted with 29 pregnant women with maternal solitary kidney and 60 healthy controls at a tertiary hospital. Obstetric data such as gestational hypertension, preeclampsia, preterm labor, birth week, mode of delivery, Apgar scores, and neonatal intensive care requirements, were compared between the groups. A binary logistic regression analysis was performed to determine the obstetric complications increased by the presence of maternal solitary kidney.</p><p><strong>Results: </strong>The number of spontaneous abortions, serum creatinine and blood urea nitrogen levels were significantly higher in the patients with solitary kidney (p < 0.05). The birth week was earlier among the patients with a solitary kidney compared to the controls (p = 0.013). The preterm and cesarean delivery rates were also higher in the case group (p = 0.002 and p = 0.035, respectively). The pregnant women with solitary kidney were found to have higher rates of gestational hypertension, preeclampsia, and maternal intensive care requirements (p = 0.008, p = 0.015, and p = 0.008, respectively). Logistic regression analysis revealed a seven-fold increase in the rate of preterm labor (1.45-37.64) and a three-fold increase in preeclampsia (1.27-22.08) among the pregnant women with a solitary kidney.</p><p><strong>Conclusion: </strong>Patients with solitary kidney are at high risk of encountering pregnancy complications, such as gestational hypertension, preeclampsia, and preterm labor. These pregnant women should be followed up carefully, starting from the first prenatal visit.</p>","PeriodicalId":16747,"journal":{"name":"Journal of Pediatric Urology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Macedo ileum-based reservoir for the management of bladder involvement in epidermolysis bullosa. 基于Macedo回肠的储液器用于治疗大疱性表皮松解症累及膀胱。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-14 DOI: 10.1016/j.jpurol.2024.12.006
Agnieszka Wiernik, Paulina Brauner, Magdalena Jastrzębska, Lidia Hyla-Klekot, Tomasz Koszutski, Grzegorz Kudela

Introduction: Epidermolysis bullosa (EB) can severely affect the urinary tract, leading to strictures and urine outflow obstruction, which pose significant risks to kidney function. Procedures involving the urinary mucosa often exacerbate these issues, making safe bladder emptying a major challenge. This study reviews surgical methods for managing urological complications in EB patients, with a focus on the Macedo procedure, which offers a promising alternative that avoids further bladder mucosa irritation and prevents disease exacerbation.

Material and methods: We conducted a systematic review of urological surgeries in EB patients using PubMed, Web of Science, and Google Scholar, adhering to PRISMA guidelines. We propose the Macedo procedure as a novel, safe, and effective technique for managing these patients' urological issues.

Results: The review revealed that most existing urological procedures for EB-related urethral obstruction often result in suboptimal outcomes, leading to permanent suprapubic catheters or vesicostomies. The Macedo ileum-based reservoir, with its continent stoma, significantly enhances the quality of life. By ensuring that catheters contact only the ileal mucosa, the procedure prevents exacerbation of EB lesions while maintaining efficient urine outflow and bladder drainage. We applied this technique to our EB patient with complete urethral obstruction following unsuccessful urethral dilations and a vesicostomy. The Macedo reservoir with a continent catheterizable stoma markedly improved the patient's quality of life, with promising initial outcomes despite limited follow-up.

Conclusion: The Macedo procedure represents a valuable surgical option for catheterization in EB patients, reducing urothelial irritation and preventing disease progression, and has the potential to improve patients' quality of life.

导言:大疱性表皮松解症(Epidermolysis bullosa, EB)可严重影响尿路,导致尿路狭窄和尿流出梗阻,对肾功能构成重大威胁。涉及尿粘膜的手术通常会加剧这些问题,使膀胱安全排空成为一个主要挑战。本研究回顾了EB患者泌尿系统并发症的外科治疗方法,重点关注了Macedo手术,该手术提供了一种有希望的替代方法,可避免进一步刺激膀胱粘膜并防止疾病恶化。材料和方法:我们根据PRISMA指南,使用PubMed、Web of Science和谷歌Scholar对EB患者的泌尿外科手术进行了系统回顾。我们认为Macedo手术是一种新颖、安全、有效的治疗泌尿系统疾病的技术。结果:回顾显示,大多数现有的泌尿外科手术治疗eb相关的尿道阻塞往往导致不理想的结果,导致永久性耻骨上导尿管或膀胱造口术。以回肠为基础的水库,具有大陆口,显着提高了生活质量。通过确保导管仅接触回肠粘膜,该手术可防止EB病变恶化,同时保持有效的尿流出和膀胱引流。我们将此技术应用于我们的EB患者,该患者在尿道扩张和膀胱造口术失败后出现完全尿道阻塞。Macedo储液器与大陆导管可造口显著改善了患者的生活质量,尽管随访有限,但初步结果很有希望。结论:Macedo手术是EB患者导尿的一种有价值的手术选择,可以减少尿路上皮刺激,预防疾病进展,并有可能改善患者的生活质量。
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引用次数: 0
CYP19 and ESR2 polymorphisms as potential culprits in cryptorchidism. CYP19和ESR2多态性是隐睾症的潜在罪魁祸首。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2024-12-14 DOI: 10.1016/j.jpurol.2024.12.008
Tubanur Kaya Kurt, Alev Suzen, Cilem Ozdemir, Tuba Edgunlu, Muhammed Kurt, Ramazan Gungormus

Introduction: Cryptorchidism impairs sperm development and increases the risk of infertility and testicular cancer. Estrogen signalling is critical for proper descent of the testicles, and hormonal imbalances play a role in cryptorchidism. CYP19, also known as aromatase, encodes an enzyme that converts testosterone, a male sex hormone, into estradiol, the main form of estrogen. While estrogen receptors can be activated by estrogen, CYP19 plays an important role in regulating local estrogen levels in tissues such as the testes, as it affects cellular processes controlled by estrogen receptors.

Objective: We aimed to investigate the relationship between polymorphisms in the CYP19 (rs2414096) and ESR2 (rs4986938) and susceptibility to cryptorchidism.

Study design: We genotyped CYP19 (rs2414096) and ESR2 (rs4986938) polymorphisms using PCR-RFLP in DNA isolated from blood samples of cryptorchid children (n = 41) and healthy controls (n = 42). The differences in genotype and allele frequencies between the cryptorchidism and control groups were calculated using the chi-square (χ2).

Results: In cryptorchidism patients, genotypes (p < 0.05) and allele frequencies (p < 0.05) of CYP19 (rs2414096) and ESR2 (rs4986938) polymorphisms showed significant differences compared to controls. CYP19 (rs2414096) and ESR2 (rs4986938), the AA genotype and A allele frequency may be risk factors for cryptorchidism, while the GG genotype and G allele may be protective against cryptorchidism.

Discussion: Our study provides compelling evidence for a significant association between polymorphisms in the CYP19 (rs2414096) and ESR2 (rs4986938) polymorphisms and cryptorchidism susceptibility. These findings extend previous research implicating genetic factors in testicular descent but go further by identifying specific polymorphisms associated with increased risk. While previous studies have suggested a role for estrogen imbalance in cryptorchidism, our results provide concrete genetic evidence supporting this hypothesis. The relatively small sample size necessitates replication in larger cohorts to further validate our findings. Additionally, functional studies are warranted to elucidate the precise mechanisms by which these genetic variants influence cryptorchidism risk. Despite these limitations, our results represent a significant step in unravelling the complex aetiology of this common birth defect.

Conclusion: Our findings show that polymorphisms in CYP19 (rs2414096) and ESR2 (rs4986938), which play a role in estrogen production, are significantly associated with cryptorchidism susceptibility, highlighting the potential role of estrogen pathway variations in testicular descent.

隐睾损害精子发育,增加不育和睾丸癌的风险。雌激素信号对于睾丸的正常下降至关重要,激素失衡在隐睾症中起作用。CYP19,也被称为芳香化酶,编码一种酶,将男性性激素睾酮转化为雌二醇,雌二醇是雌激素的主要形式。虽然雌激素受体可以被雌激素激活,但CYP19在调节睾丸等组织的局部雌激素水平方面起着重要作用,因为它影响由雌激素受体控制的细胞过程。目的:探讨CYP19 (rs2414096)和ESR2 (rs4986938)基因多态性与隐睾易感性的关系。研究设计:我们使用PCR-RFLP技术对从隐睾儿童(n = 41)和健康对照(n = 42)血液样本中分离的DNA进行CYP19 (rs2414096)和ESR2 (rs4986938)多态性分型。使用χ2计算隐睾患者与对照组基因型和等位基因频率的差异。讨论:我们的研究提供了令人信服的证据,证明CYP19 (rs2414096)和ESR2 (rs4986938)多态性与隐睾易感性之间存在显著关联。这些发现延伸了先前关于睾丸下降的遗传因素的研究,但进一步确定了与风险增加相关的特定多态性。虽然以前的研究表明雌激素失衡在隐睾症中起作用,但我们的研究结果提供了具体的遗传证据来支持这一假设。相对较小的样本量需要在更大的队列中进行复制,以进一步验证我们的发现。此外,功能研究有必要阐明这些遗传变异影响隐睾风险的确切机制。尽管存在这些局限性,但我们的研究结果在揭示这种常见出生缺陷的复杂病因方面迈出了重要的一步。结论:我们的研究结果表明,参与雌激素产生的CYP19 (rs2414096)和ESR2 (rs4986938)的多态性与隐睾易感性显著相关,突出了雌激素途径变异在睾丸下降中的潜在作用。
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引用次数: 0
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Journal of Pediatric Urology
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