Biomedical subjects

Stephen Lortat-Jacob

Publications and source records attributed to Stephen Lortat-Jacob.

5 recordsLinked to original sources

PubMed2006

Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients.

PURPOSE: To improve treatment policy, we retrospectively evaluated the results of early corrective genital surgery in 63 sexually ambiguous patients 14 to 38 years old. MATERIALS AND METHODS: We analyzed all records classified under male pseudohermaphroditism and true hermaphroditism. Anatomical and functional results and data on self-reported satisfaction were recorded by the managing physician at the last routine followup visit. RESULTS: A total of 38 patients were raised female and 25 were raised male. Basal procedures for external genital reconstruction were initiated shortly after birth, when gender was assigned. Complementary surgical procedures were usually required later. In both sexes there was a significant negative correlation between the number of basal, but not complementary, procedures required and year of birth, due to the adoption of 1-stage procedures in the early 1980s. Most patients with gonadal dysgenesis were raised as females and menstruated under treatment but breast development was abnormal in 30%. Spontaneous puberty was observed in true hermaphrodites raised as either sex. In females with partial androgen insensitivity the main problem was shortness of the vagina. Amenorrhea and infertility often led to transient distress. In males results were poor due to intractable micropenis and minimal virilization. Results were good in 5alpha-reductase deficiency. CONCLUSIONS: Results of intersex surgery have clearly improved with time, and apart from a patient with 5alpha-reductase deficiency who underwent a successful sex change, no patient expressed dissatisfaction with sex of rearing. However, in the absence of an in-depth psychological survey, these optimistic conclusions are valid only in the settings of our study.

Adolescent↗

PubMed2005

Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis.

BACKGROUND/PURPOSE: Inflammatory myofibroblastic tumor (IMT) is considered as an intermediate neoplasm that may present malignant features. Differential diagnosis with other tumor processes is sometimes difficult. Similar anaplastic lymphoma kinase (ALK) gene abnormalities as in anaplastic large cell lymphoma have been reported. Human herpesvirus 8 (HHV-8) DNA sequences have been described in adult pulmonary IMTs and Epstein-Barr virus (EBV) has been reported in splenic and hepatic IMTs, suggesting the importance of both viruses in IMT development. This article aims to evaluate ALK, EBV, and HHV-8 expression in children with IMT and to correlate our findings with clinical features. METHODS: Sixteen children (range, 1-15 years) who had surgery for IMT between 1978 and 2003 were evaluated retrospectively. Formalin-fixed, paraffin-embedded archival tissues were stained for HHV-8 and ALK with immunohistochemistry. Epstein-Barr virus was detected by in situ hybridization (EBER probes). RESULTS: Tumors were located in the pulmonary lobe (n = 4), urinary tract (n = 4), mesentery or bowel (n = 4), hepatic lobe (n = 1), vena cava (n = 1), spinal cord (n = 1), and soft tissue (n = 1). Five children were treated with steroids and/or antibiotics before surgery, with no substantial result. IMT was excised totally in all but 2 cases. Four patients presented aggressive IMT with recurrence or metastasis requiring new surgery. ALK was positive in 3 (18.8%) cases and EBV in 1 pulmonary and 1 bladder tumor, all of them without recurrence or metastasis. None of the cases were positive for HHV-8. All patients are now disease-free with a mean follow-up of 4.2 years. CONCLUSIONS: Considering the present lack of efficient medical treatment, surgery should still be considered as the mainstay therapy in IMT, even in cases of recurrence or metastases. Larger multicentric studies would be necessary to understand the prognostic significance of ALK, EBV, and HHV-8 and their relationships with the origins of the tumor.

Adolescent↗

PubMed2004

[Hermaphroditism pathology].

Hermaphroditism is a general term referring to all discrepancies between phenotype and genotype of sex development. It must be preferred to sexual ambiguity which refers mainly to external genitalia anomalies. Hermaphroditism is studied on an historical and pathogenetical perspective. Short embryological summaries are integrated. The defects of sexual differentiation due to hormone deficiency are first studied: androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, defects of testosterone synthesis, persistant mullerian ducts syndrome. Sexual determinism deficiencies are then presented: Turner syndrome, XX males, pure gonadal dysgenesis, true hermaphroditism, mixed gonadal dysgenesis, Drash and Frasier syndrome. Tumors of dysgenetic gonads followed. Mixed tumors developed in dysgenetic gonads are gonadoblastoma and dysgerminoma. Sex cord tumors are androgen insensitivity associated tumors, Leydig cells tumors and adrenal cell inclusion tumors. Sex reversion genes open new perspectives.

Disorders of Sex Development↗

PubMed2002

Early closure of fistula after hypospadias surgery using N-butyl cyanoacrylate: preliminary results.

PURPOSE: We determine the effectiveness of the tissue adhesive n-butyl cyanoacrylate for early repair of fistula after hypospadias surgery in children. MATERIALS AND METHODS: Between February 1999 and December 2000 we evaluated prospectively 8 patients who underwent closure of early urethrocutaneous fistula after hypospadias repair using cyanoacrylate based tissue adhesive at our institutions. After discovery of the fistula parents were instructed to apply triamcinolone cream over the failed repair for 2 to 3 days before fistula closure. Multiple layers of tissue adhesive were applied after reapproximation of the fistula margins after prior urethral catheterization. The entire procedure was performed at the outpatient clinic with the patient under conscious sedation using 0.5 mg./kg. midazolam orally. All silicone 8Fr foley catheters were left in place for 7 days. RESULTS: The 8 children underwent n-butyl cyanoacrylate closure of the fistula an average of 10 days after hypospadias repair using the Duplay-Snodgrass or onlay technique. Fistulas developed 1 to 3 days after stent removal (8 to 10 days after hypospadias repair) and were located either near the coronal sulcus or the preoperative meatus. In 2 patients fistula developed after the initial hypospadias repair and 1 attempt at surgical fistula closure failed in another. After 6 months of followup fistula closure with good cosmetic and functional result were obtained in 5 patients (62.5%) and 1 required 2 applications of n-butyl cyanoacrylate. The 3 patients in whom treatment failed received 2 applications of cyanoacrylate associated with urethral drainage and underwent successful surgical closure of the fistula at 6 months. CONCLUSIONS: Use of n-butyl cyanoacrylate for repair of early fistula after hypospadias surgery in children may be an acceptable alternative to conventional delayed surgical closure with a comparable cosmetic outcome. Advantages include less pain, no need for general anesthesia, less inconvenience from the fistula and the expense of urethral catheterization for 1 week. Use of this technique does not seem to affect subsequent fistula surgery. Further studies are needed to confirm our initial success with this approach.

Child, Preschool↗

PubMed2002

Urological manifestations associated with chronic intestinal pseudo-obstructions in children.

PURPOSE: Chronic intestinal pseudo-obstruction syndrome is a rare pathological condition characterized by chronic intestinal occlusion without any anatomical or mechanical lesion. Recent progress in the treatment of these children has led to improved survival and development of associated urological complications. We define urological manifestations of chronic intestinal pseudo-obstruction to optimize evaluation and treatment. MATERIALS AND METHODS: We evaluated retrospectively the charts of 20 girls and 19 boys with a mean age of 11.2 years (range 3 days to 26 years) diagnosed with chronic intestinal pseudo-obstruction from January 1975 to February 2000. Urological evaluation included prenatal and postpartum ultrasonography, serum renal function assessment, voiding cystourethrography and urodynamics. RESULTS: Urological involvement was present in 27 of the 39 children (69%). Megacystis in 26 children (96.3%) was isolated in 12 (46.2%) and associated with ureterohydronephrosis in 14 (53.8%), including 4 with vesicoureteral reflux. One patient presented with a complex urinary anomaly. Prenatal diagnosis of megacystis was made in 16 patients (59%), including 4 with neonatal urinary retention and 12 with urinary tract infection. At followup 24 patients had 1 or greater febrile urinary tract infections while 3 had afebrile infections. In the 14 patients with megacystis and ureterohydronephrosis, 3 or greater febrile urinary tract infections developed while 10 patients with isolated megacystis had only 1 febrile urinary tract infection. Twelve patients underwent 17 urodynamic studies, all of whom initially presented with hypocontractile detrusor, increased age corrected capacity (194% +/- 44%) and compliance (42 ml./cm. H O, range 13 to 214). Bladder proprioception was also diminished. Presently voiding is achieved by abdominal pressure in 14 cases and intermittent catheterization in 10. Antibioprophylaxis was given to 17 patients, at one point in time. Renal failure (1 iatrogenic, 1 complex anomaly) developed in 2 patients. CONCLUSIONS: The presence of megacystis on prenatal ultrasound should alert the physician to the possibility of chronic intestinal pseudo-obstruction. Bladder adynamia represents the dominant urological complication. Urological evaluation and management are required to ensure adequate bladder emptying to reduce the risk of urinary tract infection and preserve long-term renal function.

Adolescent↗