Jean-Michel Guys

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PURPOSE Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients with both severe and non-severe hypospadias exhibit mutations of MAMLD1. The aim of this work was to determine whether polymorphisms of MAMLD1 are a genetic risk factor for hypospadias. MATERIAL AND METHODS(More)
BACKGROUND/PURPOSE Tracheobronchial ruptures in blunt thoracic trauma in children are rare. The aim of this study was to suggest the means of an early diagnosis and a conservative management as often as possible. METHODS Sixteen cases of tracheobronchial ruptures by blunt thoracic trauma were observed over 26 years in 9 regional pediatric centers. (More)
OBJECTIVES To investigate the incidence, nature, and management of associated ipsilateral genitourinary malformations in children with multicystic dysplastic kidney (MCDK). METHODS In this retrospective study, we analyzed the medical records and imaging studies of 93 patients with MCDK. Patients underwent ultrasonography, voiding cystourethrography,(More)
PURPOSE We describe urinary continence management and outcome in patients with spina bifida to identify the procedures that are most successful. MATERIALS AND METHODS In a multicenter retrospective cohort study medical charts were studied. At the same time in a cross-sectional survey sociodemographic characteristics, orthopedic features and urinary(More)
BACKGROUND Numerous studies have focused on the association between endocrine-disrupting chemicals (EDCs) and hypospadias. Phenotype variability, the absence of representative comparison groups and concomitant genetic testing prevent any definitive conclusions. OBJECTIVE To identify the role of occupational and environmental exposures to EDCs in(More)
There is currently widespread enthusiasm for abdominal wall reconstruction in patients with the prune belly syndrome. We have devised an operation that appears to offer some advantages over those proposed by Ehrlich and Randolph. The technique preserves the umbilicus, and thickens and strengthens the anterior abdominal wall. By narrowing the waist, it also(More)
The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS. Haplotype analyses in our French family were compared with those previously described in patients from Columbia(More)
We report two girls with histories of recessive polycystic kidney disease. Both were on maintenance hemodialysis. They had undergone surgical distal portocaval shunt because of portal hypertension. Later, bilateral nephrectomy was performed, and they presented with hepatic encephalopathy (HE) and evolution towards irreversible hepatic coma and death.(More)
A 3-yr-old boy received valproic acid (VPA) for recurrent seizures. He developed coma and acute liver failure that were attributed to VPA toxicity, and underwent emergency orthotopic liver transplantation (OLTx). Despite good graft function, his neurological state worsened and led to death a few months later. The diagnosis of Alpers-Huttenlocher Syndrome(More)
82 endoscopic surgical procedures (abdominal: 77; thoracic: 5) were performed by the same surgeon on 75 children aged from 1 month to 17 years (median 8.1 years) during the two-year period from January 1991 to December 1992. Due to the multispecialization of the Children's Hospital, a variety of pathologies were explored or treated with appendectomy(More)