Fabrizio Gennari

Early Hormonal and Surgical Treatment of Cryptorchidism

PURPOSE We investigated the efficacy of early gonadotropin treatment of cryptorchidism for promoting testicular descent and ameliorating testicular histology. MATERIALS AND METHODS We treated 319 cryptorchid testes in 281 boys 4 months to 3 years old with luteinizing hormone-releasing hormone and human chorionic gonadotropin sequential therapy. Surgery was done on the 207 testes that did not respond to medical treatment. Microscopic biopsies were performed in 134 of these 207 testes. Histological findings were compared to those of 30 cryptorchid testes in boys younger than 1 year who underwent surgery without previous hormonal treatment. RESULTS Combined luteinizing hormone-releasing hormone and human chorionic gonadotropin treatment induced scrotal descent of a percentage of cryptorchid testes depending on clinical position. Therapeutic success was greater when testes were in a lower position and results were not age dependent. Hormonal treatment of cryptorchidism during the first year of life stimulated spermatogonia maturation. CONCLUSIONS When administered at the end of age 6 months, hormonal treatment can be considered an effective and timely substitution for gonadotropin and testosterone insufficiency in cryptorchid infants. Therefore, we recommend this therapeutic procedure combined with surgery in the first year of life.

Preemptive liver transplantation in a child with familial hypercholesterolemia

Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Preemptive liver transplantation in a child with familial hypercholesterolemia.
Pediatr Transplantation 2011: 15:E25–E29.

The first one thousand liver transplants in Turin: a single-center experience in Italy

The first Italian liver transplant center to reach the goal of 1000 procedures was Turin. The paper reports this single‐center experience, highlighting the main changes that have occurred over time. From 1990 to 2002, 1000 consecutive liver transplants were performed in 910 patients, mainly cirrhotics. Surgical technique was based on the preservation of the retrohepatic vena cava of the recipient. The veno‐venous bypass was used in 30 cases only and abandoned since 1997. Operating time, warm ischemia time and length of hospital stay significantly decreased over the years, while operating room extubation became routine. Immunosuppression pivoted on cyclosporine A. Management of retransplantations, marginal grafts, and of HCV‐positive, HBV‐positive and hepatocellular carcinoma recipients were optimized. Median follow‐up of the patients was 41 months. Overall survival rates at 1, 5 and 10 years were 87%, 78% and 72% respectively. Survival rates obtained in the second half of the cases (1999–2002 period) were significantly better than those obtained in the first half (1990–1998 period) (90% vs. 83% at 1 year and 81% vs. 76% at 5 years respectively). Increasing experience in liver transplant surgery and postoperative care allowed standardization of the procedure and expansion of the activity, with parallel improvement of the results.

Unresectable multifocal omental and peritoneal inflammatory myofibroblastic tumor in a child: revisiting the role of adjuvant therapy

Inflammatory myofibroblastic tumor is an uncommon lesion, also called pseudotumor, with a variable natural course from benign with spontaneous regression to mimicking malignant tumors. We report a case of diffuse peritoneal and omental pseudotumor in a 10-year-old boy characterized by aggressive behavior at the onset followed by stability after subtotal resection and chemotherapy. Total excision was not possible because of the tumor dissemination over the whole peritoneal surface. Adjuvant antiinflammatory drug (ketorolac tromethamine) and chemotherapy (methotrexate-vinblastine followed by ifosfamide-adriamycin and ifosfamide alone) were helpful to obtain rapidly complete resolution of clinical symptoms and anatomic stability of the residual lesions. Long-term evolution, in the absence of continued therapy, has been characterized by progressive involution and reduction of the residual masses.

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.

We describe a child with progressive familial intrahepatic cholestasis (PFIC) of type 2 inherited as uniparental isodisomy of chromosome 2. Bile salt export pump (BSEP) deficiency is a severe, genetically determined subtype PFIC caused by mutations in ABCB11, the gene encoding a bile salt transporter protein. Clinical and pathological diagnosis in PFIC2 is corroborated by an ample array of ABCB11 mutations, inherited in an autosomal recessive fashion. We report clinical, pathological, and molecular studies in a child with PFIC2. A 5.5‐year‐old boy harbored a described pathogenic mutation (p.R832C) in ABCB11. The mutation was found to be homozygous in the patient and heterozygous in DNA from paternal, but not maternal blood. Having ruled out maternal gene deletion and somatic mosaicism, we showed that the child had inherited an isodisomic paternal chromosome 2, including the 2q31.1 region where ABCB11 is located. The present report is the first description of uniparental isodisomy in a hepatic heritable disorder. Recognizing isodisomic transmission may have a significant impact on genetic counseling helping to define the risk of recurrence in subsequent pregnancies.