The European Reference Network eUROGEN, an interview by the Journal of Pediatric Urology.

The European Reference Networks (ERNs) initiative was started by the European Commission. The initiative was launched in 2017 in response to the 2011 EU Directive on Cross-Border Healthcare (Directive 2011/24/EU), which emphasized the need to improve healthcare for patients with rare diseases and complex conditions across the European Union. Currently, 24 ERNs are available for rare diseases.

Lessons Learned from Tissue Engineering in Urethral Reconstruction and Pelvic Organ Prolapse.

Urogenital diseases, such as hypospadias, incontinence, urethral obstruction, and pelvic organ prolapse, are common conditions that often require treatments at specialized health care providers. All these conditions can have a negative effect on quality of life, but due to issues of taboo and shame, treatment of urogenital disorders has received less attention and has perhaps undergone less development than desirable. Reconstructive surgery of the lower urinary tract is not without complications, and the functional results may be clinically suboptimal and not meeting with patient expectations.

Randomized controlled trials - The what, when, how and why.

Randomized controlled trials (RCTs) are at the top of the pyramid of evidence as they offer the best answer on the efficacy of a new treatment. RCTs are true experiments in which participants are randomly allocated to receive a certain intervention (experimental group) or a different intervention (comparison group), or no treatment at all (control or placebo group). Randomization, along with other methodological features such as blinding and allocation concealment, safeguard against biases.

MicroRNAs and hypospadias: A systematic review.

The aim of the present study was to summarize what is known about the role of microRNAs (miRNAs/miRs) in relation to hypospadias. Therefore, a systematic review was performed by consulting the electronic databases, MEDLINE (PubMed) and Embase. The search strategy consisted of both MeSH and free text terms, including hypospadias AND miRNA.

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.

Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood.

Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018.

Exploring the Role of miR-132 in Rat Bladders and Human Urothelial Cells during Wound Healing.

Urinary bladder wound healing shares many features with skin healing, involving several molecular players, including microRNAs (miRs). This study investigated the role of miR-132 in urothelial cells. We analyzed miR-132 expression in rat bladder using in situ hybridization and conducted gain and loss of miR-132 function assays in primary human urothelial cells (HUCs).

Surgical Implantation of Single-Staged Tissue-Engineered Urothelial Tubes in a Minipig Model.

Reconstructive surgeries are often challenged by a lack of grafting tissue. In the treatment of urogenital malformations, the conventional solution has been harvesting gastrointestinal tissue for non-orthotopic reconstruction due to its abundance to reestablish normal function in the patient. The clinical outcomes after rearranging native tissues within the body are often associated with significant morbidity; thus, tissue engineering holds specific potential within this field of surgery.

A perioperative layered autologous tissue expansion graft for hollow organ repair.

Tissue engineering has not been widely adopted in clinical settings for several reasons, including technical challenges, high costs, and regulatory complexity. Here, we introduce the Perioperative Layered Autologous Tissue Expansion graft (PLATE graft), a composite biomaterial and collagen-reinforced construct with autologous epithelium on one side and smooth muscle tissue on the other. Designed to mimic the structure and function of natural hollow organs, the PLATE graft is unique in that it can be produced in a standard operating theatre and is cost-effective.

Fetal biomarkers for lower urinary tract obstruction secondary to posterior urethral valves.

Today, prenatal diagnosis of congenital urogenital malformations is mostly dependent on anatomical variations found on imaging. However, these findings can mislead us in telling us when to intervene, and about post-natal prognosis. Since many findings are dependent on multiple assessments, delayed diagnosis can occur, leading to less optimal outcomes compared to early intervention.

Advancing autologous urothelial micrografting and composite tubular grafts for future single-staged urogenital reconstructions.

Urogenital reconstructive surgery can be impeded by lack of tissue. Further developments within the discipline of tissue engineering may be part of a solution to improve clinical outcomes. In this study, we aimed to design an accessible and easily assembled tubular graft with autologous tissue, which could be constructed and implanted as a single-staged surgical procedure within the premises of an ordinary operating room.

Insights into cellular behavior and micromolecular communication in urothelial micrografts.

Autologous micrografting is a technique currently applied within skin wound healing, however, the potential use for surgical correction of other organs with epithelial lining, including the urinary bladder, remains largely unexplored. Currently, little is known about the micrograft expansion potential and the micromolecular events that occur in micrografted urothelial cells. In this study, we aimed to evaluate the proliferative potential of different porcine urothelial micrograft sizes in vitro, and, furthermore, to explore how urothelial micrografts communicate and which microcellular events are triggered.

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Paediatric urology is a subspeciality of urology, with close links to paediatric surgery. This review concludes that a holistic life-long approach to management in highly specialised treatment centres is essential for many of the rare congenital conditions - in Denmark, paediatric urology is centralised to two institutions: Rigshospitalet in Copenhagen and Aarhus University Hospital in Aarhus. Other than performing basic urology in paediatric patients, both centres specialise in complex and rare urological conditions and thus have been accredited by the European Reference Network on rare diseases through the eUrogen collaboration.

Precision medicine and rare diseases in pediatric urology.

Precision Medicine holds promise for helping us manage specific phenotypes of common diseases. For rare diseases such as hypospadias, DSD, and pediatric solid tumors, it can also reveal underlying risk factors and pathogenesis. Professors Ann Nordgren and Anna Lindstrand share their experiences in the development and ongoing initiatives of the Swedish national project on Precision Medicine and how it could change the care of pediatric urology patients.

A qualitative content analysis of the experience of hypospadias care: The importance of owning your own narrative.

Objectives: There is a lack of studies on men's individual experiences of living with hypospadias. We aimed to explore the personal experiences of having hypospadias in relation to healthcare and surgery.

Subjects And Methods: Purposive sampling was used to include men (aged 18 and over) with hypospadias representing different phenotypes (from distal to proximal) and ages in order to maximise the variation and richness of our data.

The positive predictive value of using fsh and Inhibin-B serum levels to diagnose gonadotropin insufficiency in bilateral cryptorchid boys is high.

Aim Of Study: Despite early surgery, many boys with bilateral cryptorchidism at surgery have a reduced number of germ cells per tubular cross-section (G/T) in testicular biopsies and/or low inhibin-B with no elevated follicle-stimulating hormone (FSH) as expected based on a normal gonadotropin feed-back mechanism. Such boys have a high risk of later infertility because of insufficient gonadotropin stimulation and may benefit from adjuvant hormonal treatment. Testicular biopsies are not always wanted or accepted.

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.

Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%-3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly.