Pulmonary Artery Dilatation Due to Pressure or Volume Overload in Congenital Heart Disease.

Pulmonary artery dilatation is described mostly in association with pulmonary hypertension. Study analysis: 60 patients with pulmonary arterial hypertension in congenital heart disease (PAH-CHD); 64 with repaired tetralogy of Fallot/pulmonary regurgitation (rTOF/PR); and 80 healthy (NORMAL). Measured were: main pulmonary artery (MPA) diameter and MPA/ascending aorta (Ao asc) ratio, by echocardiography (ECHO) and computer tomography or magnetic resonance imaging (CT/MRI).

Risk of chronic thromboembolic pulmonary hypertension after splenectomy.

Objectives: The purpose of the clinical study was to evaluate the risk of chronic thromboembolic pulmonary hypertension (CTEPH) after splenectomy and to analyze some biochemical and coagulation parameters.

Background: CTEPH caused by incomplete resolution of thromboemboli and irreversible remodeling of the pulmonary arteries is a progressive, and without treatment a fatal disease. Although the definite etiopathophysiology is not quite perfectly researched, numerous clinical conditions associated with CTEPH as history of pulmonary embolism, infected ventriculoatrial shunts or permanent intravascular devices, high-dose thyroid hormone replacement, malignancy and chronic inflammatory diseases, including osteomyelitis, inflammatory bowel diseases, are well accepted.

Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same variants.

Mutations of the gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive variants.

Clinical implications of the glucokinase impaired function - GCK MODY today.

Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). GCK-MODY is characterized by fasting hyperglycemia without apparent worsening with aging and low risk for chronic vascular complications. Despite the mild clinical course, GCK-MODY could be misdiagnosed as type 1 or type 2 diabetes.