Management of disorders of sexual development: state of the art - a surgeon's perspective for western Switzerland"

Management of disorders of sexual development (DSD) partly remains controversial: initial clinical management, timing of surgical interventions and its applied techniques are a matter of debate. The present review describes the current management of the different groups of DSD. It underlines the significance of the neonatal period, both for the child as for the parents, when support is of outmost importance. As soon as possible and in a sensitive manner, a Relationship of trust must be established, later on passing information also to the child, adapted to his/her age. The management has to be discussed in and offered by a multidisciplinary team, ideally in a transdisciplinary way, and must be provided in a reference center. Long term follow-up until adulthood and beyond is mandatory. Surgical indications and techniques are discussed based on the state of the art. The importance of dedicated, specialized surgical teams is highlighted, allowing for expertise, hence obtaining a significant reduction of post-operative complications, as underlined by recent research. The discussion ends with some perspectives for the French-speaking Western part of Switzerland, this particularly in conjunction with the development of the University Center of Pediatric Surgery of Western Switzerland, implying centralisation of complex urological cases, DSD patients obviously being part of it

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. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females

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. A double-J stent was inserted with spontaneous favorable evolution thereafter. Adenovirus infection in an immunocompromised patient can cause hemorrhagic cystitis without specific symptoms and might evolve toward obstructive pyelonephritis because of tubular necrosis. Diagnosis is made by urine culture and/or blood polymerase chain reaction. In case of fatal dissemination, diagnosis might only be revealed on autopsy

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

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

Effects of glucose on chemically induced acute hepatic failure in rats

Acute hepatic failure (AHF) is a physiopathological entity difficult to reproduce experimentally but necessary to evaluate new therapies such as bioartificial liver (BAL) or hepatocyte transplantation (HcTX). Two main animal models are available: surgical or chemical induction of an AHF. Many authors have assessed BAL or HcTX with such models and observed increased survival rate in the treated groups. However, during AHF, severe hypoglycemia takes place. Some authors have shown that adjunction of glucose in beverage after surgically induced AHF may induce by itself an improvement of survival rate

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. We finally describe a methodology, that allows very high rates of transduction through minimal in vitro manipulation, in which hepatocytes are kept in suspension and reimplanted within a few hours of harvest with a fully preserved engraftment potential. These results have immediate implications for the treatment of liver diseases by the transplantation of genetically modified hepatocytes, an approach that could be applied to a number of hereditary and acquired hepatic disorders

Diagnostic et prise en charge de la torsion testiculaire chez l'enfant

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. Up to 50 % of patients presenting with a testicular torsion suffered beforehand from intermittent testicular pain episodes

Severe bronchial synechia after removal of a long-standing bronchial foreign body: a case report to support control bronchoscopy

The authors report the case of a child who had severe bronchial synechia of the left main bronchus after removal of a pistachio shell embedded in granulation tissue. Histology finding of the removed granulation tissue at initial bronchoscopy showed an Actinomyces bacterial invasion. It was decided not to treat this local contamination and to perform a control bronchoscopy to verify the disappearance of local bacterial invasion. The control bonchoscopy performed 4 weeks after the foreign body (FB) removal disclosed a large central left main bronchus synechia producing a 70% reduction of the lumen, although the child had become asymptomatic except for a slight residual cough. The resection of the synechia restored a normal bronchial lumen. The performance of a systematic control bronchoscopy after removal of long standing FB is discussed and recommended