A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.

Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels.

A novel mutation in a case of pseudohypoparathyroidism type Ia.

Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.

Synthesis and hypoglycemic activity of some new flavone derivatives. 3rd communication: 3'-flavonyl-2,4-thiazolidinediones.

A new series of 3'-flavonyl-2,4-thiazolidinedione, 2,4-imidazolidinedione and 2-thiohydantoin derivatives (1-10) were synthesized and their chemical structures have been elucidated by various spectral data. The prepared compounds were tested for their insulinotropic effects in INS-1 cells. Inhibitory effects were observed for compounds 1 and 2.

Synthesis and hypoglycemic activity of some new flavone derivatives. 2nd communication: 4'-flavonyl-2,4-thiazolidinediones.

A new series of 4'-flavonyl-2,4-thiazolidinedione, 2,4-imidazolidinedione and 2-thiohydantoin derivatives (1-10) were synthesized. Their chemical structures have been elucidated by IR, 1H-NMR, mass spectra and elementary analysis. The synthesized compounds were tested for their insulinotropic effects in INS-1 cells.

Synthesis and hypoglycaemic activity of some new flavone derivatives. Part 1: Flavonylsulphonylurea derivatives.

A new series of flavonyl-3'-sulphonylurea derivatives (1-7) was prepared by reaction of several isocyanates with flavone-3'-sulphonamide (III). The prepared compounds were tested for their insulinotropic activities in INS-1 cells. Compounds 1 and 4 were able to increase insulin release in the presence of 8.

Synthesis and antimicrobial activity of some new flavonyl oxime ether derivatives.

The synthesis of a series of 6 compounds related to 2-(4'-formyl-phenyl)-4]H-1-benzopyran-4-one O-substituted oxime and the results of a study of their biological activity are reported. The structural assignments of the compounds is based upon various spectral data. The prepared compounds were screened for their in vitro antibacterial and antifungal activities.

The role of nitrergic system on the contractility of colonic circular smooth muscle in Hirschsprung's disease.

Unlabelled: The contribution of nitrergic tone on the contractility of colonic smooth muscle in Hirschsprung's disease (HD) was investigated.

Methods: Ganglionic and aganglionic bowel specimens were taken from 8 patients with HD during pull-through operations and electrical field stimulation (EFS)-induced isometric contractions of the circular smooth muscle were recorded in vitro. Isolated circular muscle strips prepared from colonic segments of sex- and age-matched patients (n = 3) who underwent surgery for nonmotility-related colonic diseases formed the control group.