Rare and Complex Urology: Clinical Overview of ERN eUROGEN.

Background: In 2017, the European Commission launched 24 European Reference Networks (ERNs). ERN eUROGEN is the network for urorectogenital diseases and complex conditions, and started with 29 full member healthcare providers (HCPs) in 11 countries. It then covered 19 different disease areas distributed over three workstreams (WSs).

ATM: Translating the DNA Damage Response to Adaptive Immunity.

ATM is often dubbed the master regulator of the DNA double stranded break (DSB) response. Since proper induction and repair of DNA DSBs forms the core of immunological diversity, it is surprising that patients with ataxia telangiectasia generally have a mild immunodeficiency in contrast to other DSB repair syndromes. In this review, we address this discrepancy by delving into the functions of ATM in DSB repair and cell cycle control and translate these to adaptive immunity.

Development of a posterior sagittal anorectal surgical teaching model.

Background: An Anorectal Malformation (ARM) is a rare congenital malformation, which requires proper correction to ensure the best long-term prognosis. These procedures are relatively infrequent and complex, in which a structured approach is important. Therefore, training on an affordable model could be beneficial.

Magnetic Non-invasive Auricular Acupuncture During Eye-Exam for Retinopathy of Prematurity in Preterm Infants: A Multicentre Randomized Controlled Trial.

Eye exam for Retinopathy of prematurity (ROP) is a painful procedure and pharmacological analgesia might be ineffective. We hypothesized that magnetic auricular acupuncture (MAA) compared to placebo will decrease pain during ROP exam in preterm infants. Multicentre randomized controlled trial conducted in three hospitals (Australia, Canada, and Malaysia).

COVID-19 in children treated with immunosuppressive medication for kidney diseases.

Background: Children are recognised as at lower risk of severe COVID-19 compared with adults, but the impact of immunosuppression is yet to be determined. This study aims to describe the clinical course of COVID-19 in children with kidney disease taking immunosuppressive medication and to assess disease severity.

Methods: Cross-sectional study hosted by the European Rare Kidney Disease Reference Network and supported by the European, Asian and International paediatric nephrology societies.

Prognostic Factors on Graft Function in Pediatric Kidney Recipients.

Background: Graft survival in pediatric kidney transplant recipients has increased in the last decades. Determining prognostic factors for graft function over time allows the identification of patients at risk for graft loss and could lead to improvement of current guidelines.

Methods: Data were collected among pediatric kidney transplant recipients in a single center during the first 5 years after transplantation.

Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency.

Background: Patients with an IgG subclass deficiency (IgSD) ± specific polysaccharide antibody deficiency (SPAD) often present with recurrent infections. Previous retrospective studies have shown that prophylactic antibiotics (PA) and immunoglobulin replacement therapy (IRT) can both be effective in preventing these infections; however, this has not been confirmed in a prospective study.

Objective: To compare the efficacy of PA and IRT in a randomized crossover trial.

A Multidisciplinary Approach to Fungal Infections: One-Year Experiences of a Center of Expertise in Mycology.

Invasive fungal diseases (IFDs) often represent complicated infections in complex patient populations. The Center of Expertise in Mycology Radboudumc/CWZ (EMRC) organizes a biweekly multidisciplinary mycology meeting to discuss patients with severe fungal infections and to provide comprehensive advice regarding diagnosis and treatment. Here, we describe the patient population discussed at these meetings during a one-year period with regards to their past medical history, diagnosis, microbiological and other diagnostic test results and antifungal therapy.

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.

Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula.

Lymphatic malformations in children: treatment outcomes of sclerotherapy in a large cohort.

This retrospective study examines the outcomes of sclerotherapy in children with (veno)lymphatic malformations who received sclerotherapy between 2011 and 2016 (116 children, 234 procedures). Complication severity was classified using the Society of Interventional Radiology classification. Clinical response was rated on a scale of 0 (no change) to 3 (good improvement).

Treatment Outcomes of Embolization for Peripheral Arteriovenous Malformations.

Purpose: To evaluate treatment outcomes of embolization for peripheral arteriovenous malformations (AVMs) in a tertiary referral center where ethanol is the primary agent of choice.

Methods: A retrospective study was performed of 93 patients (median age, 31 years; range, 2-66 years) with peripheral AVMs treated with embolization (n = 442; median, 2 per patient; range, 1-82) between January 2010 and July 2016. Ethanol was used in most cases (n = 428; 97%).

Prematurity, perinatal inflammatory stress, and the predisposition to develop chronic kidney disease beyond oligonephropathy.

Prematurity and perinatal stress, such as intrauterine growth restriction (IUGR) and chorioamnionitis, are pathological processes creating an impaired intrauterine environment. These intrauterine factors are associated with the development of proteinuria, hypertension, and chronic kidney disease (CKD) later in life. Initially, this was thought to be secondary to oligonephropathy, subsequent glomerular hypertrophy, and hyperfiltration, leading to glomerulosclerosis, a further decrease in nephron number, and finally CKD.

Pharmacology of enalapril in children: a review.

Enalapril is an angiotensin-converting enzyme (ACE) inhibitor that is used for the treatment of (paediatric) hypertension, heart failure and chronic kidney diseases. Because its disposition, efficacy and safety differs across the paediatric continuum, data from adults cannot be automatically extrapolated to children. This review highlights paediatric enalapril pharmacokinetic data and demonstrates that these are inadequate to support with certainty an age-related effect on enalapril/enalaprilat pharmacokinetics.

Risk factors for intensive care admission in children with severe acute asthma in the Netherlands: a prospective multicentre study.

Rationale: Severe acute asthma (SAA) can be fatal, but is often preventable. We previously observed in a retrospective cohort study, a three-fold increase in SAA paediatric intensive care (PICU) admissions between 2003 and 2013 in the Netherlands, with a significant increase during those years of numbers of children without treatment of inhaled corticosteroids (ICS).

Objectives: To determine whether steroid-naïve children are at higher risk of PICU admission among those hospitalised for SAA.

Quality of life and psychosocial outcomes in children with severe acute asthma and their parents.

Objectives: To prospectively evaluate quality of life (QoL) and psychosocial outcomes in children with severe acute asthma (SAA) after pediatric intensive care (PICU) admission compared to children with SAA who were admitted to a general ward (GW). In addition, we assessed post-traumatic stress (PTS) and asthma-related QoL in the parents.

Methods: A preplanned follow-up of 3-9 months of our nationwide prospective multicenter study, in which children with SAA admitted to a Dutch PICU (n=110) or GW (n=111) were enrolled between 2016-2018.

The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.

Background: Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision.

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. The aims of this study were to identify patients with monogenic disorders using a genetics-first approach, and to study whether variants in candidate genes are involved in the etiology of VACTERL or the individual features of VACTERL: Anorectal malformation (ARM) or esophageal atresia with or without trachea-esophageal fistula (EA/TEF).

Validation of low-cost models for minimal invasive surgery training of congenital diaphragmatic hernia and esophageal atresia.

Background: Minimal invasive surgery (MIS) is increasingly used for the correction of congenital diaphragmatic hernia (CDH) and esophageal atresia (EA). It is important to master these complex procedures, preferably preclinically, to avoid complications. The aim of this study was to validate recently developed models to train these MIS procedures preclinically.

Proenkephalin as a new biomarker for pediatric acute kidney injury - reference values and performance in children under one year of age.

Objectives Acute kidney injury (AKI) is common in critically ill children, but current biomarkers are suboptimal. Proenkephalin A 119-159 (PENK) is a promising new biomarker for AKI in adults, but pediatric data is lacking. We determined PENK reference intervals for healthy children, crucial for clinical implementation, and explored concentrations in critically ill infants aged under 1 year.

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.

Background: Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management.

Aims: This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood.