Natriuretic peptides are a family of structurally related but genetically distinct hormones/paracrine factors that regulate blood volume, blood pressure, ventricular hypertrophy, pulmonary hypertension, fat metabolism, and long bone growth. The mammalian members are atrial natriuretic peptide, B-type natriuretic peptide, C-type natriuretic peptide, and possibly osteocrin/musclin. Three single m...

[PDF] [Full Text] [Abstract] , August 1, 2008; 52 (2): 301-307. Hypertension L. Monassier, M.-A. Laplante, F. Jaffre, P. Bousquet, L. Maroteaux and J. de Champlain Hypertrophy in Mice Serotonin 5-HT2B Receptor Blockade Prevents Reactive Oxygen Species-Induced Cardiac [PDF] [Full Text] [Abstract] , September 1, 2008; 138 (9): 1596-1601. J. Nutr. Semplicini I. Papparella, G. Ceolotto, D. Mont...

INTRODUCTION [corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome. CASE PRESENTATION We re...

Introduction: We present the unexpected findings of a 59-years-old female patient who was admitted for an imaging investigation after the exclusion of rheumatoid arthritis and recurring carpal tunnel syndrome she was operated on both hands several years earlier. Case presentation: Magnetic resonance imaging of the cervical spine revealed severe scoliosis in the cervicothoracic junction with bic...

Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in Monte Santo, a poor and isolated rural region in Northeast Brazil with large family sizes and high rates of community endogamy and parental consanguinity (α = 0.00483), 9 living and 4 now deceased individuals in 11 kindreds have bee...

Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB).  The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...