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Editorial: Shared Decision Making in Pediatric Differences/Disorders of Sex Development. 社论:儿童性发育差异/障碍的共同决策
Pub Date : 2023-01-01 Epub Date: 2023-09-08 DOI: 10.3389/fruro.2023.1281181
Kristina Suorsa-Johnson, Rebecca K Delaney, Angela Fagerlin, David E Sandberg
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引用次数: 0
Surgical Decision-Making for Individuals with Differences of Sex Development: Stakeholders' views. 性别发展差异个体的手术决策:利益相关者的观点
Pub Date : 2023-01-01 Epub Date: 2023-02-24 DOI: 10.3389/fruro.2023.1092256
Erica M Weidler, Melissa Gardner, Kristina I Suorsa-Johnson, Tara Schafer-Kalkhoff, Meilan M Rutter, David E Sandberg, Kathleen van Leeuwen

Introduction: Advocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD.

Methods: Stakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes. Audio-recordings were transcribed, coded, and analyzed using qualitative data software. Codes for "Process of Decision-Making" and "Successful Outcome-Surgery/Appearance/Function" were further searched using keywords "surgery," "procedure," and "timing."

Results: Several themes were identified: 1) The nature or type of the decision being made; 2) Who should be involved in the decision-making process; 3) Timing of conversations about surgery; 4) Barriers to decision-making surrounding surgery; 5) The elements of surgical decision-making; and 6) The optimal approach to surgical decision-making. Many stakeholders believed children and adolescents with DSD should be involved in the process as developmentally appropriate.

Conclusion: DSD include a wide range of diagnoses, some of which may require urogenital reconstruction to relieve obstruction, achieve continence, and/or address other anatomical differences whether cosmetic or functional. Adolescents and adults with DSD desired autonomy and to be part of the decision-making process. Parents were divided in their opinion of who should be involved in making elective surgical decisions: the child or parents as proxy medical decision-makers. Providers and other professionals stressed the importance of process and education around surgical decisions. Ongoing research examines how decision-makers evaluate tradeoffs associated with decision options.

引言倡导和人权组织呼吁暂停选择性手术,直到患者能够充分参与决策过程。由于手术在性发育差异(DSD)护理方面具有争议性,我们旨在评估患有DSD的青少年和成人、父母、医疗保健提供者和其他相关专业人员认为与DSD复杂手术决策相关的因素。方法DSD护理的利益相关者(n=110)参与半结构化访谈,探讨成功医疗结果的特征和潜在决定因素。使用定性数据软件对录音进行转录、编码和分析。使用关键词“手术”、“程序”和“时间”进一步搜索“决策过程”和“成功结果-手术/外观/功能”的代码。结果确定了几个主题:1)决策的性质或类型;2) 谁应该参与决策过程;3) 关于手术的谈话时间;4) 手术决策障碍;5) 手术决策的要素;以及6)手术决策的最佳方法。许多利益相关者认为,患有DSD的儿童和青少年应该在适合发展的情况下参与这一过程。结论DSD包括广泛的诊断,其中一些可能需要泌尿生殖道重建来缓解梗阻,实现失禁,和/或解决其他解剖学差异,无论是外观上的还是功能上的。患有DSD的青少年和成年人希望拥有自主权并参与决策过程。父母对谁应该参与做出选择性手术决定的意见存在分歧:孩子还是父母作为代理医疗决策者。提供者和其他专业人员强调了手术决策过程和教育的重要性。正在进行的研究考察了决策者如何评估与决策选项相关的权衡。
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引用次数: 0
Repeated variate stress increased voiding frequency and altered TrpV1 and TrpV4 transcript expression in lower urinary tract (LUT) pathways in female mice. 反复的变异应激增加了雌性小鼠的排尿频率,并改变了下尿路(LUT)通路中TrpV1和TrpV4转录本的表达。
Pub Date : 2023-01-01 Epub Date: 2023-01-25 DOI: 10.3389/fruro.2022.1086179
Amanda B Sidwell, Celia McClintock, Katharine I Beča, Susan E Campbell, Beatrice M Girard, Margaret A Vizzard

Psychological stress is associated with urinary bladder dysfunction (e.g., increased voiding frequency, urgency and pelvic pain); however, the mechanisms underlying the effects of stress on urinary bladder function are unknown. Transient receptor potential (TRP) channels (vanilloid family) may be potential targets for intervention due to their distribution in the LUT and role in pain. Here, we examine a model of repeated variate stress (RVS) of 2 week (wk) or 4 wk duration in female mice and its effects on bladder function, anxiety-like behavior, and TRPV transcript expression in urinary bladder and lumbosacral spinal cord and associated dorsal root ganglia (DRG). Using continuous infusion, open-outlet cystometry in conscious mice, RVS significantly (p ≤ 0.05) decreased infused volume and intermicturition interval. Bladder pressures (threshold, average, minimum, and maximum pressures) were unchanged with RVS. Quantitative PCR demonstrated significant (p ≤ 0.05) changes in TrpV1 and TrpV4 mRNA expression between control and RVS cohorts in the urothelium, lumbosacral spinal cord, and DRG. Future directions will examine the contribution of TRP channels on bladder function, somatic sensation and anxiety-like behavior following RVS.

心理压力与膀胱功能障碍(如排尿次数增加、尿急和骨盆疼痛)有关;然而,压力对膀胱功能的影响机制尚不清楚。瞬时受体电位(TRP)通道(类香兰素家族)可能是潜在的干预靶点,因为它们分布于膀胱直肠,并在疼痛中发挥作用。在这里,我们研究了雌性小鼠持续 2 周或 4 周的重复变异应激(RVS)模型及其对膀胱功能、焦虑样行为和膀胱、腰骶部脊髓及相关背根神经节(DRG)中 TRPV 转录物表达的影响。在有意识的小鼠中采用连续输注、开放式膀胱测压法,RVS 显著(p ≤ 0.05)减少了输注量和排尿间隔。膀胱压力(阈值、平均压力、最低压力和最高压力)与 RVS 无变化。定量 PCR 显示,对照组和 RVS 组之间,尿路神经细胞、腰骶脊髓和 DRG 中的 TrpV1 和 TrpV4 mRNA 表达发生了显著变化(p ≤ 0.05)。未来将研究 TRP 通道对膀胱功能、躯体感觉和 RVS 后焦虑样行为的影响。
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引用次数: 0
Decisional Support Needed when Facing Tough Decisions: Survey of Parents with Children having Differences of Sex Development. 面对艰难决定时需要的决策支持:对孩子性别发育差异的父母的调查
Pub Date : 2023-01-01 Epub Date: 2023-02-09 DOI: 10.3389/fruro.2023.1089077
Melissa Gardner, William B Brinkman, Meg Carley, Noi Liang, Sophie Lightfoot, Kendra Pinkelman, Phyllis W Speiser, Tara Schafer-Kalkhoff, Kristina I Suorsa-Johnson, Brian VanderBrink, Erica M Weidler, Jessica Wisniewski, Dawn Stacey, David E Sandberg

Introduction: Parents of infants and young children newly diagnosed with differences of sex development (DSD) commonly face medical and psychosocial management decisions at a time when they are first learning about the condition and cannot consult their child for input. The aim of this study was to identify areas of greatest need for parental decisional support.

Methods: 34 parents of children receiving care for DSD at one of three US children's hospitals participated in a survey to learn what clinical and psychosocial decisions needed to be made on behalf of their child. Parents were then asked to identify and focus on a "tough" decision and respond to questions assessing factors affecting decision-making, decision-making preferences, decisional conflict, and decision regret. Descriptive analyses were conducted.

Results: Decisions about surgery and aspects of sharing information about their child's condition with others were the two most frequently reported decisions overall, experienced by 97% and 88% of parents, as well as most frequently nominated as tough decisions. Many parents reported mild to moderate levels of decisional conflict (59%) and decision regret (74%). Almost all parents (94%) reported experiencing at least one factor as interfering with decision-making (e.g., "worried too much about choosing the 'wrong' option"). Parents universally reported a desire to be involved in decision-making - preferably making the final decision primarily on their own (79%), or together with their child's healthcare providers (21%). The majority of parents judged healthcare providers (82%) and patient/family organizations (58%) as trustworthy sources of information.

Discussion: Parents of children with DSD encounter medical, surgical, and psychosocial management decisions. Despite difficulties including emotional distress and informational concerns (including gaps and overload), parents express strong desires to play key roles in decision-making on behalf of their children. Healthcare providers can help identify family-specific needs through observation and inquiry in the clinical context. Together with families, providers should focus on specific clinical management decisions and support parental involvement in making decisions on behalf of young children with DSD.

新诊断为性发育差异(DSD)的婴幼儿的父母通常在第一次了解这种情况时面临医疗和社会心理管理决定,无法咨询孩子的意见。本研究的目的是确定最需要父母决策支持的领域。方法在美国三家儿童医院之一接受DSD治疗的34名儿童家长参加了一项调查,以了解代表他们的孩子需要做出哪些临床和社会心理决定。然后,父母们被要求识别并关注一个“艰难”的决定,并回答影响决策的因素、决策偏好、决策冲突和决策后悔的问题。进行描述性分析。结果关于手术的决定和与他人分享孩子病情信息的决定是两个最常见的决定,分别有97%和88%的父母经历过,也是最常被认为是艰难的决定。许多父母报告有轻度到中度的决策冲突(59%)和决策后悔(74%)。几乎所有的父母(94%)都表示,至少有一种因素会影响决策(例如,“过于担心选择‘错误’的选项”)。家长普遍表示希望参与决策——最好是主要自己做出最终决定(79%),或与孩子的医疗保健提供者一起做出最终决定(21%)。大多数家长认为医疗保健提供者(82%)和患者/家庭组织(58%)是值得信赖的信息来源。DSD患儿的父母遇到医疗、手术和心理管理决策。尽管困难包括情绪困扰和信息担忧(包括差距和过载),父母还是表达了强烈的愿望,希望代表孩子在决策中发挥关键作用。医疗保健提供者可以通过在临床环境中观察和询问来帮助确定家庭特定需求。提供者应与家庭一起关注具体的临床管理决策,并支持家长代表患有DSD的幼儿参与决策。
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引用次数: 0
Changes in nerve growth factor signaling in female mice with cyclophosphamide-induced cystitis. 雌性环磷酰胺性膀胱炎小鼠神经生长因子信号的变化。
Pub Date : 2023-01-01 DOI: 10.3389/fruro.2022.1089220
Harrison W Hsiang, Beatrice M Girard, Margaret A Vizzard

IC/BPS is a chronic inflammatory pelvic pain syndrome characterized by lower urinary tract symptoms including unpleasant sensation (pain, pressure, or discomfort) in the suprapubic or bladder area, as well as increased urinary frequency and urgency, and decreased bladder capacity. While its etiology remains unknown, increasing evidence suggests a role for changes in nerve growth factor (NGF) signaling. However, NGF signaling is complex and highly context dependent. NGF activates two receptors, TrkA and p75NTR, which activate distinct but overlapping signaling cascades. Dependent on their coexpression, p75NTR facilitates TrkA actions. Here, we show effects of CYP treatment and pharmacological inhibition of p75NTR (via LM11A-31) and TrkA (ARRY-954) on NGF signaling-related proteins: NGF, TrkA, phosphorylated (p)-TrkA, p75NTR, p-ERK1/2, and p-JNK. Cystitis conditions were associated with increased urothelial NGF expression and decreased TrkA and p75NTR expression as well as altering their co-expression ratio; phosphorylation of ERK1/2 and JNK were also altered. Both TrkA and p75NTR inhibition affected the activation of signaling pathways downstream of TrkA, supporting the hypothesis that NGF actions during cystitis are primarily TrkA-mediated. Our findings, in tandem with our recent companion paper demonstrating the effects of TrkA, TrkB, and p75NTR inhibition on bladder function in a mouse model of cystitis, highlight a variety of potent therapeutic targets and provide further insight into the involvement of NGF signaling in sustained conditions of bladder inflammation.

IC/BPS是一种慢性炎症性盆腔疼痛综合征,其特征是下尿路症状包括耻骨上或膀胱区域的不愉快感觉(疼痛、压力或不适),以及尿频和尿急增加,膀胱容量下降。虽然其病因尚不清楚,但越来越多的证据表明,神经生长因子(NGF)信号的变化起着重要作用。然而,NGF信号是复杂且高度依赖于环境的。NGF激活两个受体,TrkA和p75NTR,它们激活不同但重叠的信号级联反应。依赖于它们的共表达,p75NTR促进TrkA的作用。在这里,我们展示了CYP治疗和p75NTR(通过LM11A-31)和TrkA (ry -954)的药理抑制对NGF信号相关蛋白的影响:NGF、TrkA、磷酸化(p)-TrkA、p75NTR、p- erk1 /2和p- jnk。膀胱炎与尿路上皮NGF表达增加、TrkA和p75NTR表达减少以及它们的共表达比例改变有关;ERK1/2和JNK的磷酸化也发生了改变。TrkA和p75NTR抑制均影响TrkA下游信号通路的激活,支持了NGF在膀胱炎中的作用主要由TrkA介导的假设。我们的研究结果,以及我们最近的合著论文,证明了TrkA、TrkB和p75NTR抑制对膀胱炎小鼠模型膀胱功能的影响,突出了各种有效的治疗靶点,并进一步深入了解了NGF信号在膀胱炎症持续状态中的作用。
{"title":"Changes in nerve growth factor signaling in female mice with cyclophosphamide-induced cystitis.","authors":"Harrison W Hsiang,&nbsp;Beatrice M Girard,&nbsp;Margaret A Vizzard","doi":"10.3389/fruro.2022.1089220","DOIUrl":"https://doi.org/10.3389/fruro.2022.1089220","url":null,"abstract":"<p><p>IC/BPS is a chronic inflammatory pelvic pain syndrome characterized by lower urinary tract symptoms including unpleasant sensation (pain, pressure, or discomfort) in the suprapubic or bladder area, as well as increased urinary frequency and urgency, and decreased bladder capacity. While its etiology remains unknown, increasing evidence suggests a role for changes in nerve growth factor (NGF) signaling. However, NGF signaling is complex and highly context dependent. NGF activates two receptors, TrkA and p75<sup>NTR</sup>, which activate distinct but overlapping signaling cascades. Dependent on their coexpression, p75<sup>NTR</sup> facilitates TrkA actions. Here, we show effects of CYP treatment and pharmacological inhibition of p75<sup>NTR</sup> (via LM11A-31) and TrkA (ARRY-954) on NGF signaling-related proteins: NGF, TrkA, phosphorylated (p)-TrkA, p75<sup>NTR</sup>, p-ERK1/2, and p-JNK. Cystitis conditions were associated with increased urothelial NGF expression and decreased TrkA and p75<sup>NTR</sup> expression as well as altering their co-expression ratio; phosphorylation of ERK1/2 and JNK were also altered. Both TrkA and p75<sup>NTR</sup> inhibition affected the activation of signaling pathways downstream of TrkA, supporting the hypothesis that NGF actions during cystitis are primarily TrkA-mediated. Our findings, in tandem with our recent companion paper demonstrating the effects of TrkA, TrkB, and p75<sup>NTR</sup> inhibition on bladder function in a mouse model of cystitis, highlight a variety of potent therapeutic targets and provide further insight into the involvement of NGF signaling in sustained conditions of bladder inflammation.</p>","PeriodicalId":73113,"journal":{"name":"Frontiers in urology","volume":"2 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10315557","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: 1
Co-creating a suite of patient decision aids for parents of an infant or young child with differences of sex development: A methods roadmap. 为性别发育不同的婴儿或幼儿的父母共同创建一套患者决策辅助:方法路线图
Pub Date : 2023-01-01 Epub Date: 2023-01-04 DOI: 10.3389/fruro.2022.1020152
Sophie Lightfoot, Meg Carley, William Brinkman, Melissa D Gardner, Larry D Gruppen, Noi Liang, Kendra Pinkelman, Phyllis W Speiser, Kristina I Suorsa-Johnson, Brian VanderBrink, Jessica Wisniewski, David E Sandberg, Dawn Stacey

Introduction: Parents and guardians of infants and young children with differences of sex development (DSD) often face numerous health and social decisions about their child's condition. While proxy health decisions can be stressful in any circumstance, they are further exacerbated in this clinical context by significant variations in clinical presentation, parental lack of knowledge about DSD, irreversibility of some options (e.g., gonadectomy), a paucity of research available about long-term outcomes, and anticipated decisional regret. This study aimed to engage clinicians, parents, and an adult living with DSD to collaboratively develop a suite of patient decision aids (PDAs) to respond to the decisional needs of parents and guardians of infants and young children diagnosed with DSD.

Methods: We used a systematic co-development process guided by the Ottawa Decision Support Framework and the International Patient Decision Aids Standards (IPDAS). The five steps were: literature selection, establish the team, decisional needs assessment, create the PDAs, and alpha testing.

Results: We developed four PDAs to support parents/guardians of infants or young children diagnosed with DSD about four priority decisions identified through our decisional needs assessment: genetic testing, gender of rearing, genital surgery and gonadal surgery. All four PDAs include information for parents about DSD, the options, reasons to choose or avoid each option, and opportunities for parents/guardians to rate the importance of features of each option to clarify their values for these features. Qualitative feedback was positive from clinicians, parents and an adult living with DSD.

Conclusions: These PDAs are clinical tools designed to support parents/guardians and to promote making an informed and shared DSD-related decision. While these tools are specific to DSD, they contain themes and elements translatable to other pediatric populations.

引言有性别发展差异(DSD)的婴儿和幼儿的父母和监护人经常面临关于其孩子状况的许多健康和社会决定。虽然在任何情况下,代理健康决策都可能带来压力,但在这种临床背景下,临床表现的显著差异、父母对DSD缺乏了解、某些选择的不可逆性(如性腺切除术)、缺乏关于长期结果的研究以及预期的决策后悔会进一步加剧这种压力。本研究旨在让临床医生、父母和患有DSD的成年人共同设计一套患者决策辅助工具(PDA),以满足诊断为DSD的婴幼儿的父母和监护人的决策需求。方法在渥太华决策支持框架和国际艾滋病患者决策标准(IPDAS)的指导下,我们使用了一个系统的联合设计过程。五个步骤是:文献选择、建立团队、决策需求评估、创建PDA和阿尔法测试。结果我们的健康专业人员、父母、患有DSD的成年人和PDA专家团队共同设计了四个PDA,以支持诊断为DSD的婴儿或幼儿的父母/监护人。这些PDA解决了通过我们的决策需求评估确定的四个优先决策:基因检测、养育性别、生殖器手术和性腺手术。所有四个PDA都包括家长关于DSD的信息、选项、选择或避免每个选项的原因,以及家长/监护人评估每个选项功能重要性的机会,以澄清他们对这些功能的价值。当阿尔法在一个中心与跨专业DSD专业团队进行测试时,我们团队的定性反馈是积极的。结论这些PDA是临床工具,旨在支持父母/监护人参与做出知情的DSD决策;接下来的步骤是确定父母的决策结果。虽然这些工具是DSD特有的,但它们的共同设计过程可以转移到其他儿科人群的PDA的共同设计中。
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引用次数: 0
A Multi-Spark Electrohydraulic Shock Wave Generator with Adjustable Pressure Field Distribution and Beam Steering Capability. 具有可调压力场分布和波束转向能力的多火花电液冲击波发生器
Pub Date : 2023-01-01 Epub Date: 2023-03-13 DOI: 10.3389/fruro.2023.1057723
Georgy N Sankin, Zheng Fang, Juanjuan Gu, Yun Jing, Pei Zhong

Background and objective: All clinical shock wave lithotripters produce an axisymmetric acoustic field without accounting for the anatomic features of the kidney or respiratory motion of the patient. This work presents a steerable and adjustable focusing electrohydraulic (SAFE) shock wave generator design with variable beam size and shape.

Materials and methods: 90 electrohydraulic transducers are mounted concentrically on a spherical basin with adjustable connection to individual transducers. Each transducer consists of 45 3D-printed titanium microelectrodes embedded in epoxy with a tip diameter of 0.3 mm. All the transducers are arranged in 5 concentric rings and sub-divided into 6 sectors.

Results: By changing the connections of individual transducers, the focused pressure field produced by the transducer array can be either axisymmetric with a -6 dB focal width of 14.8 mm in diameter, or non-axisymmetric with a long axis of 22.7 mm and a short axis of 15.1 mm. The elongated beam produces a peak positive pressure of 33.7±4.1 MPa and comminution efficiency of 42.2±3.5%, compared to 36.2±0.7 MPa and 28.6±6.1% for axisymmetric beam after 150 pulses at 20 kV.

Conclusions: We have demonstrated that the SAFE shock wave generator can produce an elongated non-axisymmetric pressure field with higher stone comminution efficiency. The SAFE shock wave generator may provide a flexible and versatile design to achieve accurate, stable, and safe lithotripsy for kidney stone treatment.

背景和目的所有的临床冲击波碎石机产生一个轴对称的声场而不考虑肾脏的解剖特征或患者的呼吸运动。本文提出了一种可调可调聚焦电液冲击波发生器的设计方案,具有可变光束大小和形状。材料和方法90电液换能器同心安装在一个球形盆上,与单个换能器的连接可调。每个换能器由45个嵌入环氧树脂的3d打印钛微电极组成,尖端直径为0.3毫米。所有换能器排列在5个同心圆中,分为6个扇区。结果通过改变单个换能器的连接方式,换能器阵列产生的聚焦压力场可以是轴对称的(-6 dB焦点宽度直径为14.8 mm),也可以是非轴对称的(长轴为22.7 mm,短轴为15.1 mm)。在20 kV电压下,经过150次脉冲后,细长束的峰值正压为33.7±4.1 MPa,粉碎效率为42.2±3.5%,而轴对称束的峰值正压为36.2±0.7 MPa,粉碎效率为28.6±6.1%。结论SAFE冲击波发生器可以产生细长的非轴对称压力场,具有较高的碎石粉碎效率。SAFE冲击波发生器可以提供灵活和通用的设计,以实现准确、稳定和安全的肾结石碎石治疗。
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引用次数: 0
Editorial: Minimally invasive techniques in benign prostatic hyperplasia (BPH) surgery 社论:良性前列腺增生(BPH)手术中的微创技术
Pub Date : 2022-12-30 DOI: 10.3389/fruro.2022.1115743
F. Sessa, P. Polverino, M. Carini, A. Minervini, S. Serni, R. Campi, E. Checcucci
COPYRIGHT © 2022 Sessa, Polverino, Carini, Minervini, Serni, Campi and Checcucci. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. TYPE Editorial PUBLISHED 30 December 2022 DOI 10.3389/fruro.2022.1115743
版权所有©2022 Sessa, Polverino, Carini, Minervini, Serni, Campi和Checcucci。这是一篇基于知识共享署名许可(CC BY)的开放获取文章。允许在其他论坛上使用、分发或复制,前提是要注明原作者和版权所有者,并根据公认的学术惯例引用本期刊的原始出版物。不遵守这些条款的使用、分发或复制是不被允许的。类型社论发表于2022年12月30日DOI 10.3389/ fruo .2022.1115743
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引用次数: 0
Monogenic causation of pediatric nephrolithiasis 儿童肾结石的单一病因
Pub Date : 2022-12-27 DOI: 10.3389/fruro.2022.1075711
C. Schott, Ava Pourtousi, Dervla M. Connaughton
Nephrolithiasis is a condition in which crystals precipitate out of the urine forming kidney stones in the renal calyces and pelvis. Approximately 80% of stones are composed of calcium oxalate and calcium phosphate. In recent years, there has been a significant increase in the prevalence of nephrolithiasis across populations, specifically in that of the pediatric population. The etiology of stone disease is multifactorial, and includes environmental, dietary, hormonal, and genetic factors. Evidence for monogenic causation (also known as Mendelian or single-gene disorders) in nephrolithiasis includes the finding that 30% of children with stone disease report a positive family history, with monogenic nephrolithiasis accounting for approximately 30% of cases. Monogenic nephrolithiasis can occur in isolation or may be the result of an underlying genetic disorder including autosomal dominant hypocalcemia (ADH), primary hyperoxalurias, and hereditary hypophosphatemic rickets with hypercalciuria (HHRH), to name a few. Currently, there are 41 known genes that represent monogenic causes of human nephrolithiasis. Since early detection of these mutations can in some cases prevent the progression to end stage kidney disease in pediatric patients, establishing the genetic basis for nephrolithiasis is increasingly important. Here we provide an overview of kidney stone disease in children with a focus on monogenic causation in the pediatric population.
肾结石是一种晶体从尿液中沉淀出来,在肾盏和肾盂形成肾结石的情况。大约80%的结石由草酸钙和磷酸钙组成。近年来,肾结石的患病率在人群中显著增加,尤其是在儿科人群中。结石的病因是多因素的,包括环境、饮食、激素和遗传因素。肾结石的单基因病因(也称为孟德尔或单基因疾病)的证据包括,30%的结石病儿童报告了阳性家族史,其中单基因肾结石约占病例的30%。单源性肾结石可以单独发生,也可能是潜在遗传疾病的结果,包括常染色体显性低钙血症(ADH)、原发性高草酸尿症和遗传性低磷血症性软骨病伴高钙尿症(HHRH)等。目前,已知有41个基因代表人类肾结石的单基因原因。由于在某些情况下,早期检测这些突变可以防止儿童患者发展为终末期肾病,因此建立肾结石的遗传基础越来越重要。在这里,我们提供了儿童肾结石疾病的概述,重点是儿科人群中的单基因病因。
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引用次数: 1
Use of statistical shape modeling to enhance the fluoroscopic evaluation of the bladder 使用统计形状建模来增强膀胱的荧光透视评估
Pub Date : 2022-12-22 DOI: 10.3389/fruro.2022.915520
Megan R. Routzong, Y. Santiago-Lastra, K. Gallo, Lindsey A. Burnett
Introduction Video urodynamic studies (VUDS) use fluoroscopic imaging to visualize the bladder and multichannel urodynamics to assess its function. Qualitative assessment of bladder shape is used to identify abnormal features (e.g., diverticula) that correspond with pathophysiology; however, this assessment is limited in its ability to predict bladder function. Therefore, we developed a novel quantitative approach to assess bladder shape obtained from fluoroscopic VUDS images utilizing statistical shape modeling. This method was compared to existing binary and continuous shape quantification methods and used to identify relationships between bladder shape and measures of bladder physiology categorized as related to sensation, incontinence, or emptying. Methods This was a retrospective, cross-sectional study of 49 participants. Bladder walls were segmented from fluoroscopic images at rest with the bladder filled to approximately 300 mL. Bladder shape was evaluated in three ways: 1) binary categorization as typical or atypical based on clinical assessment, 2) quantification of height-to-width ratios, and 3) quantification by statistical shape modeling. Independent t-tests and correlations were used to assess associations between the three shape evaluation methods and to define relationships between shape and physiologic measures: 3 volumetric measures describing sensation, 2 dichotomous variables addressing incontinence, and 1 volumetric measure representing emptying. Results The statistical shape model generated 5 modes of variation. Mode 1 corresponded with height-to-width ratio (r=0.920, p<0.001), modes 2 and 3 with diagonal height-to-width ratio (r=0.66 and -0.585, p<0.001 and <0.001), and mode 3 with binary shape categorization (p<0.001). In terms of function, those with atypical bladder shape had impaired emptying (p=0.010), modes 4 and 5 were significantly associated with measures of bladder sensation, mode 3 with urodynamic stress urinary incontinence, and mode 3 with emptying in those able to void (r=0.368, p=0.021). The relationship between mode 3 and emptying across all patients is best fitted by a quadratic function (p<0.001). Discussion Our results demonstrate that binary shape categorization and bladder shape quantified by statistical shape modeling correspond with measures of bladder physiology. This foundational study establishes statistical shape modeling as a robust bladder shape quantification method that can be used to relate bladder shape with physiology.
引言视频尿动力学研究(VUDS)使用荧光镜成像来观察膀胱,并使用多通道尿动力学来评估其功能。膀胱形状的定性评估用于识别与病理生理学相对应的异常特征(如憩室);然而,这种评估在预测膀胱功能方面是有限的。因此,我们开发了一种新的定量方法,利用统计形状建模来评估从荧光VUDS图像中获得的膀胱形状。该方法与现有的二元和连续形状量化方法进行了比较,并用于确定膀胱形状与膀胱生理学测量之间的关系,这些测量被归类为与感觉、失禁或排空有关。方法这是一项对49名参与者的回顾性横断面研究。从静止时的荧光镜图像中分割膀胱壁,膀胱填充至约300mL。膀胱形状通过三种方式进行评估:1)基于临床评估的典型或非典型二元分类,2)高宽比的量化,以及3)通过统计形状建模进行量化。使用独立的t检验和相关性来评估三种形状评估方法之间的相关性,并定义形状和生理测量之间的关系:3种描述感觉的体积测量,2种针对失禁的二分变量,以及1种代表排空的体积测量。结果统计形状模型产生5种变异模式。模式1对应高宽比(r=0.920,p<0.001),模式2和模式3对应对角线高宽比,r=0.66和-0.585,p<0.001和<0.001),模式3对应二元形状分类(p<0.001)。就功能而言,非典型膀胱形状的患者排空受损(p=0.010),模式4和模式5与膀胱感觉测量显著相关,尿动力学应激性尿失禁的模式3,模式3与能够排空的患者排空(r=0.368,p=0.021)。所有患者的模式3与排空之间的关系最好用二次函数拟合(p<0.001)。讨论我们的结果表明,通过统计形状建模量化的二元形状分类和膀胱形状符合膀胱生理学的测量。这项基础研究将统计形状建模建立为一种稳健的膀胱形状量化方法,可用于将膀胱形状与生理学联系起来。
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Frontiers in urology
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