Combined effect of mutations of the GH1 gene and its proximal promoter region in a child with growth hormone neurosecretory dysfunction (GHND).

Mutational analysis of the growth hormone 1 (GH1) gene and its promoter in a patient with GH neurosecretory dysfunction (GHND) revealed a heterozygous new deletion of one base 7-bp downstream from the 3'-splice site of exon 4 (IVS4'del+7) of the GH1 gene and two new heterozygous mutations at sites -135 and -138 of the GH1 promoter. In addition, two polymorphisms at sites -301 and -308 of the GH1 promoter were observed. All other family members had either the -301/-308 polymorphisms or the IVS4'del+7 mutation, but none had both.

Growth hormone/JAK-STAT axis signal-transduction defect. A novel treatable cause of growth failure.

Primary cultured fibroblasts of four patients with idiopathic short stature and severe growth delay, which displayed normal growth hormone receptor expression presented a reduced ability for activation of signal transducer and activator of transcription-3 (STAT3). Impaired STAT3 activation was accompanied by cell-cycle arrest at the Go /G1 phase. Increased levels of the cyclin-dependent kinase inhibitor, p21(WAF/CIPI), and reduced levels of cyclins were also detected in these patients.

The role of Seprafilm bioresorbable membrane in the prevention and therapy of endometrial synechiae.

This randomized controlled blind prospective study is undertaken to evaluate the safety and efficacy of Seprafilm--a novel bioresorbable membrane of chemically modified hyaluronic acid and carboxymethylcellulose--in prevention and reduction of postoperative endometrial and endocervical synechiae formation after general suction evacuation or curettage for incomplete, missed, and recurrent abortion. In total, 150 patients with incomplete or missed abortion participated in the clinical study. The study population was divided into two main groups.