Kidney Int Rep

Introduction: Denys-Drash syndrome (DDS) is a rare disease typically associated with a triad of early onset nephrotic syndromes (NS), susceptibility to Wilms tumor (WT), and genitourinary structural defects. DDS is caused by Wilms’ tumor suppression gene (WT1) variants, with the most frequent variants in exons 8 and 9. This study aimed to evaluate the long-term clinical outcomes and genotype-to-phenotype correlations in a large, multicenter cohort of children with typical DDS. Methods: We conducted a national retrospective study of all children diagnosed with a pathogenic variant in WT1 exons 8 or 9 in France between 2000 and 2022. Results: Fifty-eight children with DDS and variants in exons 8 (n = 23) and 9 (n = 35) of the WT1 gene were identified. Half of the children presented with NS (57% congenital, median age at presentation 0.3 years [interquartile range, IQR: 0.0–0.6]). Twenty-nine percent of children developed WT at a median age of 1.2 (0.5–2.2) years. Children with a variant in exon 8 developed NS much earlier than those with a variant in exon 9 (P = 0.0048), regardless of the type of genetic variation, leading to earlyier kidney failure (KF) (0.3 vs.1.4 years respectively; P = 0.0001) and higher mortality (35% vs 9%, P = 0.02). More than 90% of the truncating variants were located in exon 9 and were significantly associated with the occurrence of WT compared with the DNA-binding-site variants (P < 0.0015). Conclusion: In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care. © 2025 International Society of Nephrolog

Complications and disease recurrence after ileocecal resection in pediatric Crohn’s disease. A retrospective study

Objective The aim of this retrospective study was to describe the risk of post-operative recurrence (POR) after ileocecal resection, the occurrence of surgical complications and identify predictors of these adverse postoperative outcomes in pediatric Crohn’s disease (CD). Patients and methods All the children less than 18 years of age with a diagnosis of CD, who underwent primary ileocecal resection for CD between January 2006 and December 2016 in our tertiary centre, were considered for inclusion. Factors related to POR were investigated. Results A total of 377 children were followed for CD during 2006 and 2016. During this period, 45 (12%) children needed an ileocecal resection. POR was diagnosed in 16% (n=7) at one year and 35% (n=15) at the end of the follow-up, with a median follow-up of 2.3 years (Q1-Q3 1.8-3.3). Median duration of the postoperative clinical remission was 1.5 years (range 0.5-2). Multivariate Cox regression analysis identified only young age at diagnosis as a risk factor for POR. Seven of the 43 patients (16%) developed severe postoperative complications, defined as requiring surgical, endoscopic or radiological intervention. The only risk factor was intraoperative abscess. Conclusion Only young age at diagnosis was associated with POR. This information could be useful to develop targeted therapeutic strategies for young CD children. At the end of follow-up with a median follow-up of 2.3 years (Q1-Q3 1.8-3.3), there was no surgical POR: endoscopic dilatation for POR should be considered in order to delay or prevent surgery. </jats:p

Interventional Radiology-Guided Procedures in the Treatment of Pediatric Solid Tumors: A Systematic Review and Meta-Analysis

Introduction The use of interventional radiology (IR) in the treatment of pediatric solid tumors has markedly increased over the last three decades. However, data on effectiveness of IR-techniques, such as embolization/ablation, are scarce. In this systematic review and meta-analysis, we examined the outcomes of IR-procedures in the treatment of solid tumors in children. Materials and Methods Using a defined search strategy, we searched for studies reporting the use of IR-techniques for pediatric solid tumors from 1980 to 2017. Reports with less than three patients, review, and opinion articles were excluded. The study was conducted under preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. We analyzed dichotomous and continuous variables by appropriate statistical methods. Results Of 567 articles screened, 21 papers met the inclusion criteria (12 retrospective, 7 prospective, and 2 randomized-control trials). Many of the analyzed papers described relatively small cohorts of patients. IR-guided procedures were mainly rescue procedures to treat primarily unresectable tumors, local recurrences, or metastases. Inclusion/exclusion criteria and success definition were not specified in most reports. Major side effects were documented in 17/286 (6%) infants, while minor side effects were self-limiting in most patients. Six studies had a comparison between tumor embolization (127 infants) to surgery or chemotherapy without IR-procedures (113 controls). The meta-analysis showed lower mortality (16 vs. 47%) and surgical time for resection (206 vs. 250 m), higher 2-year tumor-free survival (82 vs. 36%), and favorable histology in IR group (p &lt; 0.001 for all). Conclusion IR-guided techniques are promising in the treatment of pediatric solid tumors. Further prospective (randomized) trials are needed to clarify efficacy.</jats:p

Hepatoprotective impact of the bile acid receptor TGR5

International audienceDuring liver repair after injury, bile secretion has to be tightly modulated in order to preserve liver parenchyma from bile acid (BA)-induced injury. The mechanisms allowing the liver to maintain biliary homeostasis during repair after injury are not completely understood. Besides their historical role in lipid digestion, bile acids (BA) and their receptors constitute a signalling network with multiple impacts on liver repair, both stimulating regeneration and protecting the liver from BA overload. BA signal through nuclear (mainly Farnesoid X Receptor, FXR) and membrane (mainly G Protein-coupled BA Receptor 1, GPBAR-1 or TGR5) receptors to elicit a wide array of biological responses. While a great number of studies have been dedicated to the hepato-protective impact of FXR signalling, TGR5 is by far less explored in this context. Because the liver has to face massive and potentially harmful BA overload after partial ablation or destruction, BA-induced protective responses crucially contribute to spare liver repair capacities. Based on the available literature, the TGR5 BA receptor protects the remnant liver and maintains biliary homeostasis, mainly through the control of inflammation, biliary epithelial barrier permeability, BA pool hydrophobicity and sinusoidal blood flow. Mouse experimental models of liver injury reveal that in the lack of TGR5, excessive inflammation, leaky biliary epithelium and hydrophobic BA overload result in parenchymal insult and compromise optimal restoration of a functional liver mass. Translational perspectives are thus opened to target TGR5 with the aim of protecting the liver in the context of injury and BA overload

Impact of COVID-19 pandemic on paediatric surgical training across Europe.

The rapid spread of COVID-19 had a tremendous impact on healthcare systems and the medical community, as resources were diverted towards priority setting. In many specialties, both non-urgent and urgent activities were reduced or postponed1. Although children were marginally affected by the pandemic, paediatric surgical services were significantly affected2. Moreover, the entire medical educational system, and particularly surgical training, was compromised as was the well-being of trainees3. The changes and challenges imposed by the pandemic on trainee education are largely under-reported. This study aimed to assess the effects of the pandemic on paediatric surgical resident activity and training throughout Europe.S

OVARIAN TORSION IN PREPUBERTAL GIRLS : CLINICAL CHARACTERISTICS, BIOLOGICAL AND RADIOLOGICAL FEATURES, RECCURENCY RATE.

International audienceIntroduction: The diagnosis of ovarian torsion is made with delay among pre-pubertal girls and the management after the surgical detorsion is poorly codified. We interested in the French experience during the last two decades.Methods: Retrospective study in French pediatric surgery centers from January 2000 to December 2022 concerning girls who presented with at least 1 episode of ovarian torsion in the prepubertal period. Data collected included patient history, symptomatology, biological and imaging assessment at first episode, emergency surgery, follow-up including recurrence.Results: Thirty centers participated and we included 502 girls diagnosed with ovarian torsion during a surgical procedure performed due to abdominal pain (with or without ovarian mass). The girls had a mean age of 7.9 years (± 2.8) and a median age of 8.3 years (Q1 5.97; Q3 10.12) at the time of the first episode of torsion. Nausea or vomiting was present in 71% of cases. Fever was present in 23% of cases and was more displayed 24 hours after the onset of abdominal pain (p &lt; 0.0001). Mean follow-up was 2.1 (± 2.61) years. Only 42 out of 142 (30%) girls with enlarged ovaries (&gt; 97th percentile) were referred to the endocrinologist to assess the existence of hormonal anomalies. Of the 482 girls without oophoropexy after the first episode of torsion, 71 (14.7 %) experienced at least one recurrence. Among them: 10 (7.5%) had an ovarian mass and 42 (55%) enlarged ovaries.Conclusion: Symptoms of ovarian torsion in pre-pubertal girls are not specific and clinicians should be aware of this insidious presentation in this group. These girls should be systematically referred to endocrinologists