ABSTRACT
Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD. We performed gene mutation screening by Sanger sequencing (all patients) and by next-generation sequencing (NGS) in patient #4. We identified new heterozygous NR5A1 gene variants in patients #1 and #2 and a homozygous SRD5A2 gene deletion in patient #3. Patient #4 received a diagnosis of complete androgen insensitivity in childhood; however, due the unusual pubertal virilization, we completed the gene analysis by NGS that revealed two heterozygous HSD17B3 variants. This work underlines the importance of considering the hypothesis of 46,XY DSD in adolescent girls with unexplained virilization at puberty.
ABSTRACT
In this short educational communication the ESPU Research Committee presents the role of non-coding RNA and how these can affect gene expression. In particular we discuss the role of microRNA on post transcriptional changes and how these may cause pathological conditions within Pediatric Urology and how microRNA could be useful in future clinical practice.
Subject(s)
MicroRNAs , Child , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Gene ExpressionABSTRACT
BACKGROUND: Low-grade vesicoureteral-reflux (VUR) are rather treated by endoscopic injection, whereas open or laparoscopic procedures are mainly performed for high-grade VURs. Management of intermediate grades is controversial and no study focused on grade III to date. This study aims to compare the results of open, laparoscopic, and endoscopic approaches in children with grade III VUR. METHODS: A multicenter comparative retrospective study included children with grade III VUR operated for febrile urinary tract infections (UTIs) from 2007 to 2016. Children without UTI, with reflux of other grades, neurological bladder, duplex system, posterior urethral valves, and bladder exstrophy were excluded. Success was defined as no recurrence of febrile UTI and was presented as event-free survival curves. RESULTS: Out of 806 children operated of VUR, 171 met the inclusion criteria (114 females). Seventy-seven children (45%) underwent an open Cohen procedure, 35 (21%) a laparoscopic Lich-Gregoir and 59 (34%) a submucosal endoscopic injection according to the centers' preference. The mean follow-up was 64 months (24-132). Groups were not different for age, sex, and circumcision status. Compared to Cohen procedure, recurrences of febrile UTI were more frequent after laparoscopic treatment (p = 0,02, 8/35) and endoscopic treatment (p = 0.001, 16/59). Redosurgery was also more frequent after laparoscopy (n = 2) and endoscopic injection (n = 14) than after open surgery (n = 0, p < 0.001). CONCLUSION: Recurrent febrile UTIs and redosurgery are more frequent after endoscopic and laparoscopic procedures in grade III VUR than open reimplantation. Whether the lower morbidity of laparoscopic or endoscopic approaches balances the risk of recurrent febrile UTI remains to be determined for intermediate grade reflux.
Subject(s)
Laparoscopy , Vesico-Ureteral Reflux , Male , Female , Child , Humans , Vesico-Ureteral Reflux/surgery , Retrospective Studies , Urinary BladderABSTRACT
Endocrine disruptor chemicals (EDCs) are ubiquitous contaminants in the environment, wildlife, and humans. During the last 20 years, several epidemiological, clinical and experimental studies have demonstrated the role of EDCs on the reduction of male and female fertility. The concept of foetal origins of adult disease is particularly topical in the field of reproduction. Moreover, exposure to EDCs during pregnancy has been shown to influence epigenetic programming of endocrine signalling and other important physiological pathways, and provided the basis for multi- and transgenerational transmission of adult diseases. However, the large panel of EDCs simultaneously present in the air, sol and water makes the quantification of human exposition still a challenge. Gas chromatography coupled with mass spectrometry, the measurement of total plasmatic hormonal bioactivity on stably transfected cell lines as well as the EDC analysis in hair samples are useful methods of evaluation. More recently, microRNAs analysis offers a new perspective in the comprehension of the mechanisms behind the modulation of cellular response to foetal or post-natal exposure to EDCs. They will help researchers and clinicians in identifying EDCs exposition markers and new therapeutic approaches in the future.
Subject(s)
Endocrine Disruptors , Adult , Endocrine Disruptors/adverse effects , Endocrine Disruptors/analysis , Female , Fertility , Humans , Male , Pregnancy , ReproductionABSTRACT
INTRODUCTION: The pancreas is the fourth most frequently involved solid organ in pediatric abdominal trauma. We present the case of a giant pancreatic pseudocyst secondary to trauma and how it was radiologically and surgically managed. CLINICAL CASE: This is the case of a 13-year-old male patient admitted as a result of a grade IV pancreatic lesion, which turned into a 170x86x180 mm pancreatic pseudocyst. Intracystic bleeding required radiological embolization of the proximal gastroduodenal artery. Subsequent abdominal compartment syndrome, biliary leak, and chemical peritonitis required laparotomy and collection drainage. Pancreatitis and duct fistula had a slow but favorable progression. DISCUSSION: The presence of duct damage is a failure predictor in the conservative treatment of pancreatic trauma. Surgical management could be indicated in recurrent, multiple, or giant (> 200 mm) pseudocysts. Intracystic bleeding is rare but potentially fatal. Selective angiogram could be a useful tool for improved prognosis.
INTRODUCCION: El páncreas es el cuarto órgano sólido más afectado en el traumatismo abdominal infantil. Presentamos la complicación de un pseudoquiste pancreático gigante secundario a traumatismo y su manejo radiológico y quirúrgico. CASO CLINICO: Varón de 13 años que ingresa por lesión pancreática grado IV, que evoluciona desarrollando un pseudoquiste pancreático de 170x86x180 mm. Un sangrado intraquístico requirió embolización radiológica de la arteria gastroduodenal proximal. El posterior síndrome compartimental abdominal, fuga biliar y peritonitis química obligaron a realizar una laparotomía y drenaje de colecciones. La pancreatitis y fístula ductal tuvieron una progresión lenta pero favorable. COMENTARIOS: La presencia de daño ductal es un predictor de fracaso del tratamiento conservador en el traumatismo pancreático. El manejo quirúrgico podría indicarse en pseudoquistes recurrentes, múltiples o gigantes (> 200 mm). El sangrado intraquístico es raro pero potencialmente letal, pudiendo ser la angiografía selectiva una herramienta útil en la mejora del pronóstico.
Subject(s)
Pancreatic Pseudocyst , Pancreatitis , Adolescent , Child , Drainage , Humans , Laparotomy , Male , Pancreas/diagnostic imaging , Pancreas/surgery , Pancreatic Pseudocyst/diagnostic imaging , Pancreatic Pseudocyst/surgery , Pancreatitis/surgeryABSTRACT
Introducción: El páncreas es el cuarto órgano sólido más afectadoen el traumatismo abdominal infantil. Presentamos la complicación deun pseudoquiste pancreático gigante secundario a traumatismo y sumanejo radiológico y quirúrgico. Caso clínico: Varón de 13 años que ingresa por lesión pancreáticagrado IV, que evoluciona desarrollando un pseudoquiste pancreáticode 170x86x180 mm. Un sangrado intraquístico requirió embolizaciónradiológica de la arteria gastroduodenal proximal. El posterior síndromecompartimental abdominal, fuga biliar y peritonitis química obligarona realizar una laparotomía y drenaje de colecciones. La pancreatitis yfístula ductal tuvieron una progresión lenta pero favorable. Comentarios: La presencia de daño ductal es un predictor de fraca-so del tratamiento conservador en el traumatismo pancreático. El manejoquirúrgico podría indicarse en pseudoquistes recurrentes, múltiples ogigantes (> 200 mm). El sangrado intraquístico es raro pero potencial-mente letal, pudiendo ser la angiografía selectiva una herramienta útilen la mejora del pronóstico.(AU)
Introduction: The pancreas is the fourth most frequently in-volved solid organ in pediatric abdominal trauma. We present thecase of a giant pancreatic pseudocyst secondary to trauma and howit was radiologically and surgically managed. Clinical case: This is the case of a 13-year-old male patientadmitted as a result of a grade IV pancreatic lesion, which turned into a 170x86x180 mm pancreatic pseudocyst. Intracystic bleedingrequired radiological embolization of the proximal gastroduodenalartery. Subsequent abdominal compartment syndrome, biliary leak,and chemical peritonitis required laparotomy and collection drainage.Pancreatitis and duct fistula had a slow but favorable progression. Discussion: The presence of duct damage is a failure predictorin the conservative treatment of pancreatic trauma. Surgical mana-gement could be indicated in recurrent, multiple, or giant (> 200mm) pseudocysts. Intracystic bleeding is rare but potentially fatal.Selective angiogram could be a useful tool for improved prognosis.(AU)
Subject(s)
Humans , Male , Adolescent , Pancreatic Pseudocyst/diagnostic imaging , Pancreatic Pseudocyst/complications , Pancreatitis , Peritonitis , Embolization, Therapeutic , Biliary Fistula , General Surgery , PediatricsABSTRACT
COVID-19 began in December 2019 then spread worldwide. Providers, including pediatric urologists, had to adapt their clinical processes, and many non-covid research activities were suspended. COVID-19 impacts how research is financed, performed, and published, and is itself the subject of intense research. We present current research and publications specifically related to the urinary tract and the pediatric population.
Subject(s)
COVID-19 , Urology , Child , Humans , SARS-CoV-2 , UrologistsSubject(s)
Androgen-Insensitivity Syndrome/epidemiology , Diethylstilbestrol/toxicity , Endocrine Disruptors/toxicity , Intergenerational Relations , Adult , Child , Child, Preschool , Female , France/epidemiology , Humans , Hypospadias/epidemiology , Infant , Infant, Newborn , Male , Middle Aged , Phenotype , Pregnancy , Prenatal Exposure Delayed Effects/chemically induced , Prenatal Exposure Delayed Effects/epidemiologySubject(s)
Biomedical Research/methods , COVID-19/epidemiology , Pandemics , SARS-CoV-2 , Urologic Diseases/epidemiology , Urology , Comorbidity , HumansABSTRACT
BACKGROUND: Burnout, which includes emotional fatigue, cynicism and low personal accomplishment is linked to poor job satisfaction, decreased empathy, job withdrawal, increased absenteeism and increased medical errors, and is present among pediatric urologists. OBJECTIVE: We aimed to determine the incidence of burnout among the members of the French-speaking Society of Pediatric and Adolescent Urology (SFUPA) and determine which external factors, such as marital or familial status, gender, age, type of practice or religious belief, impacted burnout rates. MATERIAL AND METHOD: We sent all members of the French-speaking Society for Pediatric and Adolescent Urology (SFUPA) an anonymous online questionnaire containing the validated French version of the 22-item Maslach Burnout Inventory - Human Services Survey (MBIHSS). The questionnaire comprised further questions on age, gender, marital status, presence of children at home, type of practice, professional status (trainee, consultant, or academic position), spirituality and whether responders believed they presented signs of burnout. RESULTS: 70 out of 94 members of the SFUPA answered the questionnaire (response rate 74%). The number of responders who presented high scores in one, two or the three domains of the questionnaire were respectively 48.6% (IC 95%: 36-61%), 21.4% (IC 95%: 12.5-33%) and 8.6% (IC 95%: 3-18%). 34.6% of responders who believed they presented no signs of burnout actually did have a high burnout score in at least one domain. There was no significant association between age, gender, having children or being a trainee and the presence of burnout. However, marital status and workplace were significantly associated with presence of signs of burnout. DISCUSSION: Burnout is a distinct type of work-related stress - a state of physical or emotional exhaustion that also involves a sense of reduced accomplishment and loss of personal identity. In our study the most significant factor was working in Academic hospitals which can be associated with administrative workload, long hours and a lack of institutional resources. Being in a couple was also associated with less burnout, thus showing the importance of healthy relationships and sharing on burnout rate. Age, however was not associated significantly with burnout nor was gender, which is in coherence with previous findings. CONCLUSION: Amongst members of the French-speaking Society of Pediatric and Adolescent Urology, nearly half presented signs of burnout, especially those working in academic hospitals. Marital status also influenced burnout rates. Scientific societies should work on developing tools to identify and accompany affected individuals.
Subject(s)
Burnout, Professional , Urology , Adolescent , Burnout, Professional/epidemiology , Child , Cross-Sectional Studies , Humans , Job Satisfaction , Risk Factors , Surveys and Questionnaires , WorkloadABSTRACT
PURPOSE: We report the natural history and prognosis of tumors after augmentation enterocystoplasty, with a molecular analysis using an oncogene panel to search for potential targeted therapies. MATERIALS AND METHODS: This multicenter, nationwide, retrospective study included 16 patients. A panel of 21 clinically relevant oncogenes was tested on archival tumor specimens using next-generation sequencing. Survival rate was the main clinical outcome and sequences were compared to the reference genome for the genetic outcome. RESULTS: Augmentation enterocystoplasties were performed mainly for congenital neurogenic bladder and bladder exstrophy at a median patient age of 17 years (range 4 months to 45 years). Most of the malignancies were diagnosed because of clinical manifestations, with a median latency period of 20 years. Adenocarcinomas were mainly found after gastrocystoplasty, whereas urothelial cell carcinomas were typically found after colocystoplasty. Of the 16 patients 13 were diagnosed at an advanced stage of the disease (positive lymph nodes in 7, distant metastases in 6). The overall 1-year survival rate was 56%. Only 3 patients remained disease-free at a median followup of 70 months. Of the 9 tumors with analyzable DNA 4 were wild-type and 5 harbored missense mutations (KIT-p.Pro573Ser, PDGFRA-p.Glu587Lys, KRAS-p.Gly12Asp, ERBB4p.Arg484Lys, CTNNB1-p.Ser37Phe and p.Ser47Asn). CONCLUSIONS: Malignancy after augmentation enterocystoplasty is diagnosed late with frequent metastases and a very low 1-year survival rate. More than half the tested samples harbored missense mutations in oncogenes accessible to targeted therapies. An international collaboration to enlarge the genetic panel analysis of these tumors may offer new therapeutic hope to patients.
Subject(s)
Oncogenes/genetics , Urinary Bladder Neoplasms/mortality , Urinary Bladder/surgery , Urologic Surgical Procedures , Adenocarcinoma/mortality , Adenocarcinoma/pathology , Adolescent , Adult , Bladder Exstrophy/surgery , Carcinoma, Transitional Cell/mortality , Carcinoma, Transitional Cell/pathology , Child , DNA Mutational Analysis , Female , France , High-Throughput Nucleotide Sequencing , Humans , Male , Mutation, Missense , Neoplasm Metastasis , Prognosis , Retrospective Studies , Survival Rate , Urinary Bladder Neoplasms/pathology , Urinary Bladder, Neurogenic/congenital , Urinary Bladder, Neurogenic/surgery , Young AdultABSTRACT
This manuscript is the fourth in a five part series related to evidence based medicine (EBM) provided by the European society of pediatric urology (ESPU) research committee. It will present a way to come to a quick and critical appraisal of available evidence on a specific topic: a CAT (critically appraised topic). The way how to write a cat is described for interventions to be compared to a control group, and for other, more generalized clinical questions. While systematic reviews provide a throughout overview of all evidence available, a CAT provides a shorter way to come to quick insights based on EBM.
Subject(s)
Biomedical Research/methods , Evidence-Based Medicine/methods , Urology , Child , HumansABSTRACT
The present article is the third installment in a five-part series related to evidence-based medicine (EBM) provided by the European Society for Paediatric Urology Research Committee. It will present the different levels of evidence (i.e. systematic review, randomized controlled trial, cohort study) available to clinicians and researchers and describe the strengths of each study type. While EBM provides a valuable construct to aid in medical decision-making, it remains imperative that this information be interpreted and applied in the clinical context with a good dose of common sense.
Subject(s)
Evidence-Based Medicine/methods , Societies, Medical , Urology , Europe , Humans , Randomized Controlled Trials as TopicABSTRACT
The present article is a second part related to evidence based medicine (EBM) in a series of five by the European society for paediatric urology (ESPU) research committee. It will present the different databases/search engines available to clinicians and researchers and describe strategies to focus the search to one's particular needs. Indeed, databases/search engines used and search strategy should vary according to the goal of the research. If the aim is to address a clinical problem, the search should allow to identify a small number of most pertinent articles (high specificity); if the search is for research purposes, instead, it should ensure no meaningful articles are overlooked (high sensitivity).
Subject(s)
Evidence-Based Medicine/statistics & numerical data , Publications , Urology , Child , HumansABSTRACT
The Research Committee of the European Society of Pediatric Urology will present a series of short educational communications related to evidence-based medicine. The aim of the series is to emphasize the importance of grading evidence, thereby determining the best clinical practice for patients. The goal of this series is to guide the clinician in using tools for setting up a clinical question, finding appropriate information, searching appropriate databases, and evaluating the results in relation to the patient in mind. This first part will serve as an introduction or background. Following publications will cover the topics of hierarchy of evidence, information acquisition, clinical appraisal tools, and applications in clinical practice [3].
Subject(s)
Evidence-Based Medicine , Pediatrics , UrologyABSTRACT
BACKGROUND: In humans the ratio of the index finger to the ring finger is sexually dimorphic, with the mean ratio being larger in women than in men. It has been suggested that this difference is related to prenatal androgen exposure. This has been further demonstrated in children with congenital adrenal hyperplasia. Normal development of the male external genitalia is linked to androgen-mediated events during gestation. We therefore wanted to determine if the 2D:4D digit ratio was normal in boys with cryptorchidism or hypospadias. METHODS: We prospectively enrolled all prepubertal patients seen in the outpatient clinic for cryptorchidism or hypospadias between September and December 2012. We then compared their 2D:4D digit ratio with two control groups made up of normal boys and normal girls. Interobserver and intraobserver variability was evaluated. RESULTS: We included 57 boys with hypospadias and/or cryptorchidism, 79 boys without genital abnormalities and 25 girls without genital abnormalities. The mean 2D:4D ratio for both hands was significantly different between the three groups, with the digit ratio for boys with genital anomalies being lower than for normal boys and normal girls (p<0.0001). CONCLUSIONS: It appears that boys with genital abnormalities (cryptorchidism and/or hypospadias) have a lower 2D:4D digit ratio than boys without genital anomalies.