A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.

A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features. Several NF1 patients with a large NF1 deletion and associated dysmorphism, and a large number of neurofibromas for their age have been described.

Deferoxamine and meropenem combination therapy in experimental acute pancreatitis.

Introduction: Recent data from the experimental clinical studies suggest that antibiotics having good penetration to pancreas may reduce mortality by preventing pancreatic infection, which is the most important prognostic factor in acute pancreatitis (AP). Deferoxamine is an active free oxygen radical scavenger, which has been shown to have a protective role in development of acute pancreatitis.

Aim: To determine the effects of combination of deferoxamine and meropenem in acute necrotizing pancreatitis.

The role of inducible nitric oxide synthase inhibitor, meropenem, and taurine in experimental acute necrotizing pancreatitis.

Introduction: Translocation of bacteria from the gut is one of the most important factors in the development of septic complications and mortality in acute pancreatitis.

Aims: To investigate whether S-methylisothiourea (SMT), taurine (TAU), and meropenem (MER) could effect bacterial translocation and the course of acute necrotizing pancreatitis.

Methodology: Seventy male Sprague-Dawley rats were studied.

Study of autoimmunity in Klinefelter's syndrome and idiopathic hypogonadotropic hypogonadism.

Sex hormones play an important role in determining the progression and severity of autoimmune diseases, but the in vivo mechanisms underlying this relation are poorly understood. The main objective of current study has been to compare the changes in neuroendocrine immune features and autoantibody profile in male patients with hypogonadotropic and hypergonadotropic hypogonadism, and to determine the relationships between sex hormones and immunologic parameters. Thirty-seven male patients with Klinefelter's syndrome and 35 men with idiopathic hypogonadotropic hypogonadism who had no history of previous hormonal therapy and 30 healthy men were recruited in the study.