Marfan syndrome (MFS) is an autosomal dominant inherited disease of the connective tissue with multiorgan involvement (skeleton, cardiovascular, eyes, skin, lungs). Cardiovascular involvement is variable and represents the major cause of morbidity and mortality in Marfan syndrome. We provide a comprehensive description of cardiovascular manifestations in Marfan syndrome, genotype-phenotype correlations and assessment of cardiovascular abnormalities and complications.
View Article and Find Full Text PDFIntroduction: Achondroplasia is a common form of chondrodysplasia. It is transmitted by autosomal dominant trait. The disease is determined by mutations in receptor-3 gene of the fibroblast growth factor.
View Article and Find Full Text PDFGaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients.
View Article and Find Full Text PDFIt is well known and proven that heavy metal contamination of the soils can severely affect the health of the people living in the contaminated areas given the ease with which trace elements can enter the human body. In addition-to agricultural crop depreciation as well as soil erosion, soil pollution can negatively affect the natural function of ecosystems. While certain heavy metals in high doses can be harmful to the body, others such as cadmium, mercury, lead, chromium, silver and arsenic in minimal amounts have delusional effects on the body, causing acute and chronic intoxication.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
September 2015
Objective: To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD).
Subjects And Methods: Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD).