Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

Background: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias.

Methodology/principal Findings: We evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77 patients were classified either as complete or partial gonadal dysgenesis (uterus seen at genitography and/or surgery, n = 11), ambiguous external genitalia without uterus (n = 33) or hypospadias (n = 33).

Paediatric liver transplantation with a split graft: experience at Bicêtre.

Unlabelled: This study evaluates the results of paediatric liver transplantation (PLT) with split liver grafts at Bicêtre hospital.

Patients And Methods: Between January 1, 1988 and December 31, 1995, 205 PLT were performed in 180 children. One auxiliary PLT was excluded from the study.

[An unknown etiology of fetal ascites: acute intestinal intussusception].

Background: Intussusception is a frequent diagnosis during the first year of life. However, it is an uncommon and very rare pathology in neonates and premature infants.

Case Reports: Two full term neonates presented an antenatal intussusception associated with fetal ascites; another premature infant developed an intussusception at the age of 15 days.

Portal vein complications after liver transplantation for biliary atresia.

The objective of this report is to review portal complications (PC) after pediatric liver transplantation (LT) for biliary atresia (BA) in the Bicêtre surgical series. From January 1, 1988, to February 28, 1995, 96 children with BA underwent 115 LTs Portal anastomosis was done on either the recipient portal vein (n = 85) or superior mesenteric vein (n = 11). No antiaggregative agents were administered postoperatively.

Urgent liver transplantation for biliary atresia: the experience in Bicêtre.

According to French rules for cadaver organ sharing, children with biliary atresia (BA) complicated with acute necrosis (ALN) can be registered on the waiting list for liver transplantation (LT) in a special intermediate grade urgent code. Over a 7 years period, 100 children have been submitted to elective LT for BA and 15 to urgent LT. Urgent procedures accounted for 25% of LT for BA in patients aged 0-2 years and 67% (8/12) in patients under 1 year of age.

Determinants of life span after Kasai operation at the era of liver transplantation.

The aim of this work is to determine the influence of age, extrahepatic biliary lesions pattern (EHBP) and association to polysplenia syndrome (PS) on 10 years outcome of 164 patients with biliary atresia (BA) treated from 1984 to 1992 by initial Kasai operation (KO) and secondary liver transplantation (LT) when necessary. Actuarial crude survival without or after LT (CS), actuarial survival with native liver (NLS) and jaundice-free actuarial survival with native liver (JFS) were calculated from 1 to 10 years versus age (under/over 45 days), EHBP (favorable/ unfavorable) and PS (no/yes). Overall 10-year CS is 70%, overall 10-year NLS and JFS are 14%.

Prenatal ultrasonographic detection of abdominal and pelvic tumors: impact on management.

An abdominal or pelvic tumor in very seldom detected in a prenatal ultrasound examination. The most commonly detected tumors are, in order of decreasing frequency, sacrococcygeal teratomas, neuroblastomas and kidney tumors. According to the present state of the art, diagnosis of a sacrococcygeal teratoma only leads to specific monitoring of the pregnancy, because an early delivery or delivery by cesarean section will be necessary in some cases to improve the prognosis of child and/or mother.

Spontaneous perforation of the biliary tract in infancy: a series of 11 cases.

Eleven patients presenting with spontaneous perforation of the biliary tract were treated at Bicêtre Hospital between 1971 and 1993. Three groups were individualised, each with a different pattern of local presentation: generalised biliary peritonitis (n = 2), localised biliary peritonitis (n = 4), secondary biliary stenosis (n = 5). In each case, cholestatic jaundice developed after a postnatal symptom-free interval.

[Prenatal detection of a cyst in the liver hilum. Interpretation for an adequate treatment].

The diagnosis assigned to a cystic collection of liver hilum (CCLH) detected by means of prenatal ultrasonography is usually that of choledochal cyst (CC) thus carrying a good prognosis. The aim of this work is to state more precisely the significance of such CCLH, from a review of our experience. Files of children treated in our institution for either CC or biliary atresia (BA) with bile duct cysts have been screened for prenatal detection of CCLH.

[Vascular complications of liver transplantation: surgical treatment].

Vascular complications constitute a major cause of morbidity and mortality after liver transplantation. They are dominated by arterial complications, the most frequent being hepatic artery thrombosis. Venous complications essentially consist of portal vein thrombosis.

[Transplantation of reduced-size livers in children].

Nowadays, liver reduction techniques make it possible to use livers obtained from adults or adolescents for implantation in children. These techniques have been evaluated by analysis of 100 liver transplantations performed between January 1988 and October 1991 in 85 children. Forty-six full-size grafts implanted in 38 children (group 1) were compared with 54 reduced-size grafts implanted in 47 children (group 2).

[Surgery of liver transplantation in children].

From 1988 until 1992, 94 children with end-stage liver disease were put forward for orthotopic liver transplantation (OLT) by the surgical and anesthesic teams of the Bicetre Hospital. Due to a majority of adult donors, and to the young age of the recipients (mean = 3 years 3 months), a reduced-size graft was prepared in 64 out of the 111 transplants performed (58%). A number of children (42) had to be reoperated on due to complications: hepatic artery thrombosis, one of the most severe complications following pediatric OLT, occurred in 14 cases, and was an indication for seven out of the 17 retransplantations in this series.

[Liver transplantation in children. New experience in a Pediatric Surgery unit. Evaluation of the first 18 months' experience].

The authors report an eighteen month experience with orthotopic liver transplantation (OLT) in children in the Pediatric Department of Hospital Bicêtre in Paris, from January 1988 until July 1989. Thirty-eight OLTs including 4 retransplant operations, were performed in 34 children, aged from 7 months to 13 years, 20 of them under the age of 3 years. Biliary atresia was the indication for 22 children.

[Rapid liver perfusion in multiple organ procurement in children. For liver transplantation].

We report our experience of the rapid liver flush technique in multiple organ harvesting from donor children. Between January 1988 and May 1989, out of 33 liver transplantations in 30 children, 24 were performed using livers obtained from children. The donors' mean age was 75 months.

H-type shunt with an autologous venous graft for treatment of portal hypertension in children.

From 1981 to 1987, 86 children aged 16 months to 16 years underwent a portosystemic shunt procedure using an autologous venous graft (internal jugular vein in 80 cases). Fifty-five mesocaval, 20 splenorenal, 4 portacaval, and 7 makeshift shunts were constructed. The indication for shunting was an extrahepatic portal obstruction in 59 cases, intrahepatic portal obstruction in 23 cases (including 6 cases of congenital hepatic fibrosis), and Budd-Chiari syndrome in 4 cases.

[13 cases of drug-induced calculi].

All urinary stones should undergo detailed studies to identify those related to drug therapy. Among 520 stones analyzed by infrared spectrophotometry, we found 13 drug-induced stones (13/520: 2.5%).

[Management of uropathies diagnosed prenatally. Discussion based on a series of 53 cases].

From 1982 to 1986, 53 newborns (26 boys and 27 girls) were referred to the authors for the management of a congenital anomaly of the urinary tract, following a prenatal ultrasonographic diagnosis. The postnatal diagnosis was hydronephrosis in 27 children (10/27 bilateral cases), unilateral multicystic dysplasia in 11, ureteral duplication in 6, primary megaureter or orthotopic ureterocele in 5 (1/5 bilateral case) and posterior urethral valves in 4. An early urinary tract infection was noticed in 5 cases only and 2 boys with urethral valves had an altered renal function at birth.