Trans-scrotal treatment of giant bilateral abdominoscrotal hydroceles in a 7-month-old boy.

Abdominoscrotal hydrocele (ASH) is a rare condition characterized by a large scrotal and abdominal fluid-filled sac. An inguinal surgical approach is generally described in literature. We report the case of a 7-month-old child who underwent surgical repair of bilateral ASH through bilateral transverse scrotal incisions.

How useful is a complete urinary tract ultrasound in orchiepididymitis?

Orchiepididymitis (OE) is a frequent cause of pediatric emergency department attendance in boys presenting with acute scrotum. The etiology of most episodes of OE remains unclear and there is no consensus regarding the correlation between OE and underlying genitourinary malformations. Whether imaging evaluation should comprise complete urinary tract ultrasonography (US) or voiding cystography is a subject of debate.

Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).

Female genital malformations may be present in the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and uterine appendages, the clinical picture of malformations varies greatly. This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG.

Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).

Female genital malformations may take the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and adnexa, the clinical picture of malformations may vary greatly. Depending on the extent of the malformation, organs of the urinary system or associated malformations may also be involved.

Hydronephrosis caused by kidney malrotation.

Hydronephrosis associated with kidney malrotation can be a surgical challenge. We present the case of a 3.5 y.

[Diagnosis and management of testicular torsion in children].

Testicular torsion is a true urologic emergency with a bimodal age presentation : the perinatal testicular torsion presenting with a hard, tender or non-tender scrotal mass usually with underlying dark discoloration of the skin and the peripubertal testicular torsion presenting with severe acute testicular pain, vomiting and frequently pain irradiation in the inguinal area, a high riding-horizontally positioned testis and absence of the cremasteric reflex. Obtaining a US Doppler must not add unnecessary delay to the urgent surgical treatment which entails detorsion and bilateral orchidopexy. We do not recommend manual detorsion as around 30 % of testis rotate externally.

[Patients with variations of sex development : an example of interdisciplinary care].

The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases.

Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus.

Background: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering.

Evaluation and predictive factors of renal function progression using cystatin C and creatinine in neonates born with CAKUT.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) is a main cause leading to endstage renal disease (ESRD) during childhood occurring at a frequency of 1 in every 500 pregnancies. No early predictive markers of long-term renal function (RF) are validated in these neonates. The aim of this study was to compare CysC and creatinine (creat) as markers of RF from birth to 2 years and to identify factors of RF progression.

Adenovirus-induced obstructive uropathy with acute renal failure in an immunodeficient child.

Viral infections represent severe complications in immunodeficient patients, associated with significant morbidity and mortality. We report a case of a bone marrow-transplanted adolescent with hemorrhagic cystitis 4 weeks after transplant, associated with renal failure because of obstructive pyelonephritis. Diagnostic workup finally revealed adenovirus infection.

Urethral duplication in a 12-year-old child.

Urethral duplication is a rare congenital malformation affecting mainly boys. The authors report a case in a Cameroonian child who was diagnosed and managed at the Gynaeco-Obstetric and Paediatric Hospital, Yaounde. The malformation was characterized by the presence of an incontinent epispadic urethra and a normal apical urethra.

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

Unlabelled: We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child. She presented with end-stage renal disease at the age of 1 month, followed by a rapidly progressing hepatic fibrosis and dilatation of the intrahepatic bile ducts, leading to secondary biliary cirrhosis and portal hypertension. Combined liver-kidney transplantation was performed at the age of 4 years, with excellent outcome.

The surgical challenges of disorders of sex development (DSD).

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems.

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects.

[Perinatal asphyxia and neonatal hydronephrosis].

Perinatal asphyxia. Perinatal asphyxia remains one of the most important causes for high mortality and morbidity in the neonatal population. Despite intensive animal and clinical research in this field, no pharmocological strategy has been shown neuroprotective in humans.

Biosafety in ex vivo gene therapy and conditional ablation of lentivirally transduced hepatocytes in nonhuman primates.

Ex vivo gene therapy is an interesting alternative to orthotopic liver transplantation (OLT) for treating metabolic liver diseases. In this study, we investigated its efficacy and biosafety in nonhuman primates. Hepatocytes isolated from liver lobectomy were transduced in suspension with a bicistronic liver-specific lentiviral vector and immediately autotransplanted (SLIT) into three cynomolgus monkeys.

A step toward liver gene therapy: efficient correction of the genetic defect of hepatocytes isolated from a patient with Crigler-Najjar syndrome type 1 with lentiviral vectors.

Background: Ex vivo liver gene therapy may be a future alternative to orthotopic liver transplantation for the treatment of some liver diseases. We previously described the transduction in suspension with lentiviral vectors and immediate hepatocyte transplantation (SLIT) protocol and its high transduction rate with normal human hepatocytes. We also reported SLIT efficiency in the animal model of Crigler-Najjar type 1 syndrome (CN-1), the Gunn rat.

Ex vivo lentivirus transduction and immediate transplantation of uncultured hepatocytes for treating hyperbilirubinemic Gunn rat.

Background: Ex vivo liver gene therapy provides an attractive alternative to orthotopic liver transplantation for the treatment of liver diseases. We previously reported a protocol in which human primary hepatocytes are highly transduced in Suspension with Lentiviral vectors and Immediately Transplanted (SLIT). Here, we evaluated the SLIT approach in Gunn rats, the animal model for Crigler-Najjar syndrome type 1, a defect in bilirubin UDP-glucuronosyltransferase (BUGT).

[Management of simple cranial injuries and minor cranio-cerebral injuries in children].

Owing to the frequent occurrence of minor head injuries in their daily practice, pediatricians and primary care physicians have a constant concern about their management. Evaluation of a neurotraumatised children must take account of the epidemiological, anatomical, pathophysiological and clinical specificity of each age class. Recent publications of the American Academy of Pediatric, with evidence based medicine review of the literature and experts consensus have permitted to define precise guidelines for the management of children over and below 2 years of age.

Highly efficient lentiviral vector-mediated transduction of nondividing, fully reimplantable primary hepatocytes.

Gene therapy is an attractive approach for the treatment of liver disease. We demonstrate that a so-called third-generation human immunodeficiency virus (HIV)-derived vector system can govern the efficient delivery, integration, and stable expression of a transgene into primary human hepatocytes in the complete absence of cell division. We also show that rodent hepatocytes exhibit a significant degree of resistance to HIV vector-mediated transduction, a phenotype that is particularly pronounced in murine hepatocytes and that results from a block in the immediate-early phase of infection.

Uterocervicoplasty with a bladder mucosa layer for the treatment of complete cervical agenesis.

Objective: To create an endocervical canal in a patient with a complete cervical agenesis.

Design: Case report.

Setting: University hospital.