Biomedical subjects
Publications and source records attributed to Frédéric Auber.
The current report describes the case of an 11-year-old girl with Down syndrome who was admitted because of sudden abdominal pain and vomiting. Her symptoms were secondary to severe gastric volvulus associated with congenital diaphragmatic hernia.
OBJECTIVE: The objective of this retrospective study was to assess the value of one-stage testicular descent without spermatic vessel ligation for intraabdominal impalpable testis. MATERIAL AND METHOD: This study was based on 90 children with 98 impalpable testes. Laparoscopic exploration was performed in each case. Forty-three testes were intra-abdominal and 55 were absent. One-stage surgical descent with vertical opening of the conjoined tendon and without spermatic vessel ligation was performed for 22 testes and two-stage descent (Fowler-Stephens two-stage technique) was performed for 16 testes. Three testes in bilateral forms are still waiting for treatment. RESULTS: With a mean follow-up of 17 months (range: 1 month to 8 years), 18 of the 22 testes (81%) were situated in the scrotum and were viable in the one-stage treatment group, versus 10 out of 16 (62.5%) in the two-stage group. Two poor results, including one case of necrosis, were observed after one-stage testicular descent. Six poor results, including two cases of necrosis, were observed after the Fowler-Stephens two-stage technique. CONCLUSION: One-stage testicular descent, without spermatic vessel ligation, after laparoscopic assessment of the presence and position of the testis, can be performed in the majority of cases of impalpable testis. The risks of failure due to secondary atrophy or incomplete testicular descent are minimal with this technique. One-stage surgical descent, when possible, appears to be preferable to the Fowler-Stephens two-stage procedure.
Nephrotic patients are at risk of developing venous and arterial thrombotic complications. Pulmonary embolism due to affected deep leg veins is by far the most common event. Renal or cerebral vein thromboses have been described. Thrombosis of arterial vessels is less frequent. Mesenteric infarction is a rare but severe complication in patients with nephrotic syndrome (NS). We report a 7-year-old boy with a steroid-dependent (SD) NS and a homozygous mutation of methylenetetrahydrofolate reductase, increasing the risk of thromboembolic events. He developed a thrombosis of his superior mesenteric artery during his ninth relapse, which was responsible for a necrosis of 240 cm of his small bowel, necessitating resection of necrotic parts and double external ostomy diversion. Remission was achieved with pulse prednisolone therapy. Corticoids were reduced over 4 months progressively. Oral cyclosporin A (CyA) was initiated for long-term treatment. Due to a short bowel syndrome with severe malabsorption, even oral administration of 22.5 mg/kg per day CyA did not lead to sufficient plasma levels. Intravenous cyclophosphamide pulse therapy over 6 months led to a complete remission. No relapse occurred over a period of more than 5 months after the last cyclophosphamide pulse. Anticoagulation and screening for increased susceptibility for thrombotic events are necessary in every nephrotic patient. Intravenous cyclophosphamide pulse therapy is a useful alternative in SDNS with impaired intestinal absorption of applied immunosuppressive drugs.
A small omphalocele was diagnosed and followed up prenatally. Ultrasonography examinations and clinical examination at birth were all consistent with an isolated, small omphalocele. Immediate surgical exploration at birth found an associated type I intestinal atresia. This rare association and the need for immediate postnatal management of omphalocele are discussed, and the literature is reviewed.
The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1 mutations gives a dysgenetic testis which is the cause of the genital ambiguity observed at birth. By contrast the same mutations have no effect on ovary development giving normal females. However intron mutations in KTS with isoforms imbalance of WT1 proteins cause streak gonads with a female phenotype in XY patients. In consequence WT1 mutations are the cause of a spectrum of male genital malformations associated with glomerulonephritis and tumors. The absence of WT1 protein detection in sertoli cells shown by immunohistochemistry for 3 cases suggests an imprinting effect of the normal WT1 allele promotor rather than a low level of protein production. A caryotype is mandatory for a correct diagnosis.