Prune Belly syndrome

修剪型腹部综合症
  • 文章类型: Journal Article
    背景:随着医疗保健和辅助生殖技术(ART)的进步,修剪型腹部综合征(PBS)男性的生育前景可能正在发生变化。本文旨在确定影响PBS患者生育和生殖健康优化的因素。
    方法:对70年(1952-2022年)发表的所有记录进行了范围审查,分析了PBS男性的生育力。记录总结在一张表格和描述隐睾的叙述中,诊所,睾丸组织学;前列腺特征;性激素功能;精液分析,ART,和概念能力。这篇综述在开放科学框架(OSF)上注册,并使用PRISMA方法进行。
    结果:确定了827篇文章,选择了83篇文章进行数据提取。在2000年之前,每年有0.85份出版物,而在2000年之后,每年有1.95份出版物。睾丸固定术成功地将86%的PBS睾丸重新定位到阴囊中。睾丸组织学显示50%的患者没有精原细胞,而47.2%和2.7%的数字分别减少或正常。在19.4%的患者中发现了Leydig增生和Sertoli仅组织学。前列腺发育不全和前列腺尿道扩张分别占93.6%和91.4%。睾酮,促黄体生成素(LH)和促卵泡激素(FSH)正常占93.9%,分别为87.7%和77.9%的患者。无精子症和少精子症分别在75.7%和21.6%的患者中发现,而60.7%的患者出现顺行射精。ART在6个实例中成功提取了精子,并产生了4个概念,而自然受孕被报道两次。
    结论:数据分析表明,通过评估PBS患者的激素功能,对PBS男性的生育前景越来越关注,精液分析,ART,和概念能力。审查的数据表明,PBS雄性可能会通过当代管理来生育后代,并且还表明需要一致的生殖管理方法来最大程度地提高其生育前景。
    BACKGROUND: With advances in medical care and assisted reproductive technologies (ART), fertility prospects for prune-belly syndrome (PBS) men may be changing. This review aims to identify the factors influencing fertility and optimization of reproductive health for PBS patients.
    METHODS: A scoping review was performed on all records published over 70 years (1952-2022) analyzing fertility in PBS males. Records were summarized in a table and narrative describing cryptorchidism, orchiopexy, testicle histology; prostate characteristics; sex hormone function; semen analyses, ART, and conception ability. This review was registered on Open Science Framework (OSF) and conducted using PRISMA methodology.
    RESULTS: 827 articles were identified and 83 were selected for data extraction. Before 2000, there were 0.85 publications/year whereas after 2000 there were 1.95 publications/year. Orchiopexy successfully relocated 86 % of PBS testicles into the scrotum. Testicular histology demonstrated 50 % of patients had no spermatogonia, while 47.2 % and 2.7 % had reduced or normal numbers respectively. Leydig hyperplasia and Sertoli only histology were found in 19.4 % of patients. Prostatic hypoplasia and prostatic urethral dilation were found in 93.6 % and 91.4 % of patients respectively. Testosterone, Luteinizing hormone (LH) and Follicle-stimulating hormone (FSH) were normal in 93.9 %, 87.7 % and 77.9 % of patients respectively. Azoospermia and oligospermia was found in 75.7 % and 21.6 % of patients respectively while 60.7 % had antegrade ejaculation. ART successfully extracted sperm in 6 instances and resulted in 4 conceptions, while natural conception was reported twice.
    CONCLUSIONS: Data analysis indicates increased attention to fertility prospects for PBS males with evaluation of PBS patient\'s hormonal function, semen analyses, ART, and conception ability. The reviewed data suggest that PBS males may father biological offspring with contemporary management and also demonstrate the need for consistent reproductive management approaches to maximize their fertility prospects.
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  • 文章类型: Journal Article
    背景:患有修剪腹部综合征(PBS)的儿童发生肾功能障碍的风险较高,需要肾脏替代疗法(KRT)。虽然研究描述了这些人群的手术和生存结果,在这一人群中,关于肾脏结局的证据还没有集中的综合.这里,本范围审查的重点是突出知识差距,并报告所有年龄段的PBS肾脏结局标准.
    方法:遵循范围审查方法,EMBASE,MEDLINE,和Scopus在PBS中检索了描述肾脏结局的同行评审文献。所有具有广泛肾脏结局的研究(例如肾功能指标,慢性肾脏病(CKD),包括KRT和相关结果)。对研究结果进行了总结和定性综合。
    结果:在确定的436条唯一记录中,包括25个用于合成。共有17项研究(441例患者)报告了肾功能不全的结果,CKD的患病率估计为8%至66%。共有15项研究(314名患者)描述了KRT,初次肾移植,和结果。其中,KRT的年龄从4到21岁不等,到最后一次随访(1.3-27年),移植物生存率为22%至87%。
    结论:在PBS中报告肾脏结局的研究中存在显著的差异,这限制了有意义的合成。未来的研究需要全面报告PBS中肾功能不全的混杂因素和驱动因素。
    BACKGROUND: Children with prune belly syndrome (PBS) are at higher risk of developing kidney dysfunction and requiring kidney replacement therapy (KRT). While studies have described surgical and survival outcomes in these populations, there has yet to be a focused synthesis of evidence regarding kidney outcomes in this population. Here, the focus of this scoping review was to highlight knowledge gaps and report standards on kidney outcomes in PBS of all ages.
    METHODS: Following scoping review methodology, EMBASE, MEDLINE, and Scopus were searched for peer-reviewed literature that describe kidney outcomes in PBS. All studies with a broad set of kidney outcomes (such as kidney function measures, chronic kidney disease (CKD), KRT and associated outcomes) were included. Findings were summarized and qualitatively synthesized.
    RESULTS: Of the 436 unique records identified, 25 were included for synthesis. A total of 17 studies (441 patients) reported on kidney insufficiency outcomes, with an estimated prevalence of CKD ranging from 8 to 66%. A total of 15 studies (314 patients) described KRT, primary kidney transplant, and outcomes. Of these, the age for KRT ranged from 4 to 21 years, and graft survival ranged from 22 to 87% by last follow-up (range 1.3-27 years).
    CONCLUSIONS: There is significant variability in studies reporting kidney outcomes in PBS which limits meaningful synthesis. There is a need for future studies with comprehensive reporting of confounders and drivers for kidney insufficiency in PBS.
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  • 文章类型: Review
    The P.A.D.U.A. technique is a method of addressing congenital urethral narrowing. It involves passive dilation with a series of progressively larger indwelling catheters. Utilization is limited by scant literature, particularly regarding technical details and long-term durability. Tools for achieving safe and reliable urinary drainage are critical in these patients, who require careful stewardship of their kidney and bladder function.
    To describe long-term urethral patency and urinary function following P.A.D.U.A., and to provide sufficient technical detail to reproduce the technique.
    Patients with congenital urethral narrowing managed with P.A.D.U.A. were identified and chart review was performed. Details of catheter exchange sequences were compiled and described. The primary outcome was the attainment of adequate urethral caliber by successful completion of P.A.D.U.A., and the secondary outcome was voiding per urethra at most recent follow-up.
    P.A.D.U.A. achieved adequate urethral caliber in 9/11 (82%) of patients. This included seven patients with Prune Belly Syndrome, one with isolated urethral atresia, and one with a cloacal anomaly. P.A.D.U.A. failed to achieve urethral patency in one patient with urethral duplication, who was unable to progress through the catheter sequence, and one patient with Prune Belly Syndrome, who completed P.A.D.U.A. but developed recurrent narrowing one week later. There were no delayed failures of urethral patency. Patients who achieved patency underwent a median of seven catheter placements over 92 days. Median (range) initial and final catheter sizes were 3.5F (1.9-8F) and 14F (8-16F). While 82% achieved patency, only 3/11 (27%) were voiding spontaneously per native urethra at most recent follow-up.
    This series of patients undergoing P.A.D.U.A. for primary treatment of congenital urethral narrowing is the largest to date and provides granular technical details. It aligns with prior reports suggesting that P.A.D.U.A. achieves urethral patency in most patients with Prune Belly Syndrome or isolated urethral atresia, but has limited application in the hypoplastic duplicated urethra. Despite high rates of urethral patency in this select population, many patients will not achieve and maintain spontaneous voiding without catheterization. This is likely due to ongoing deterioration of bladder function caused by the prenatal developmental insult, paralleling the phenomenon seen in posterior urethral valves.
    P.A.D.U.A. is an effective and durable technique for achieving urethral patency. However, due to complicating factors such as the underlying bladder pathology present in many patients, urethral patency achieved with P.A.D.U.A. does not guarantee long-term safe and reliable spontaneous emptying per urethra.
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  • 文章类型: Letter
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  • 文章类型: Journal Article
    BACKGROUND: Surgical management of children with Prune-belly syndrome (PBS) can be divided into three categories: urinary tract reconstruction, abdominal wall reconstruction, and orchidopexy. Adequate repair of the abdominal wall by abdominoplasty at an early age, allows an adequate aesthetic appearance, but also allows a correct development of walking, breathing, defecation and urination.
    OBJECTIVE: To present a novel surgical technique for abdominal wall reconstruction, which combines plication with complete overlap of the fascia and neoumbilicoplasty with an island flap rotated on itself.
    METHODS: A retrospective review of the patients with PBS who underwent surgery in our center between 2009 and 2020. A new abdominoplasty technique was performed, which consists of plication with complete overlap of the fascia, as well as a neoumbilicoplasty with an island flap rotated on itself. The skin is then well freed from the rest of planes, and the plication is performed with complete overlapping of the muscle-aponeurotic plane from one side to the other. At this time, the interposition of some type of reinforcement material (mesh) may be required in the event of complete absence or insufficient presence of the fascia and muscle.
    RESULTS: Abdominoplasty was performed in four patients. In all patients, bilateral orchidopexy was performed in the same surgical procedure for intra-abdominal testicles. The mean age of the patients at the time of surgery was 10,5 years and the average admission time was 4 days. There were no short-term or long-term complications. Average follow-up time was 7 years. All patients and their families are satisfied with the aesthetic result obtained.
    UNASSIGNED: Abdominoplasty in patients with PBS in addition to aesthetic reconstruction, brings significant improvements to wandering, breathing, urination and defecation, improving the quality of life of the patient. Compared to the techniques described, the abdominoplasty we propose makes it possible to easily improve the abdominal wall support by means of meshes or synthetic devices if necessary and allows the evaluation and correction of cryptorchidism or other associated renal abnormalities in the same surgical act, as it allows full abdominal exposure. Likewise our modified abdominoplasty allows the creation of the new umbilicus in a more anatomical way, rectifying its natural position.
    CONCLUSIONS: In our experience, this modified surgical technique for abdominal wall repair is a novel procedure in the PBS approach, easily reproducible, which provides good aesthetic results in our series of cases.
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  • 文章类型: Case Reports
    Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with \"prune belly\" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. Case Report: we report the second case of PS type 3 in a female neonate with \"prune belly\" anomaly and prenatal exposure to Parvovirus B19. Conclusions: We suggest that the \"prune belly\" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.
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  • 文章类型: Journal Article
    Diastasis recti abdominis is a condition in which both rectus abdominis muscles disintegrate to the sides, this being ac-companied by the extension of the linea alba tissue and bulging of the abdominal wall. DRA may result in the herniation of the abdominal viscera, but it is not a hernia per se. DRA is common in the female population during pregnancy and in the postpartum period. There is a scant knowledge on the prevalence, risk factors, prevention or management of the abovemen-tioned condition. The aim of this paper is to present the methods of DRA treatment based on the results of recent studies.
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  • 文章类型: Case Reports
    BACKGROUND: Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse. We describe a new case of PPBS and emphasize the role of imaging, especially ultrasound and MRI in the process of diagnosis and briefly review the subject.
    METHODS: A male infant of four months of age was referred for evaluation of left-sided cryptorchidism. Clinical examination revealed laxity of the left abdominal wall. Ultrasound examination of the abdomen, pelvis and scrotum was performed together with routine laboratory tests. Ultrasound examination was followed by intravenous urography, voiding cysto-urethrography and MRI of the abdomen. On ultrasound, the left testis was located in the inguinal canal, the right kidney was slightly enlarged and the left kidney could not be localized. Ultrasound appearances suggested chronic obstruction in the urinary bladder. Intravenous urography, voiding cysto-urethrography and MRI confirmed the ultrasound diagnosis and also revealed a left dysplastic kidney with a dilated, tortuous ureter. Clinical and imaging features were consistent with pseudo prune belly syndrome (PPBS).
    CONCLUSIONS: We report a new occurrence of PPBS, a rare entity. The imaging approach for a comprehensive evaluation of the renal system in PPBS, especially with MRI, is emphasized.
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  • 文章类型: Journal Article
    In this review, we illustrate the computed tomographic features of thoracoabdominal soft-tissue abnormalities, which may be easily overlooked and often can provide important information regarding systemic processes. Examples include necrotizing fasciitis, heterotopic ossification, fat necrosis, benign and malignant neoplasms, endometriosis, and collagen vascular disease as well as systemic and congenital pathology.
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