Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor.

Tetrahydrobiopterin (BH4) is an endogenous cofactor for some enzymatic conversions of essential biomolecules, including nitric oxide, and monoamine neurotransmitters, and for the metabolism of phenylalanine and lipid esters. Over the last decade, BH4 metabolism has emerged as a promising metabolic target for negatively modulating toxic pathways that may result in cell death. Strong preclinical evidence has shown that BH4 metabolism has multiple biological roles beyond its traditional cofactor activity.

An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.

Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research.

Idiopathic inflammatory myopathies in childhood: a brief review of 27 cases.

The most common idiopathic inflammatory myopathies in children include juvenile dermatomyositis, juvenile polymyositis, and myositis associated with another autoimmune disease (overlap myositis). Idiopathic inflammatory myopathies manifest different characteristics affecting children. Only a few investigations of childhood idiopathic inflammatory myopathies were reported, involving 27 patients.