Genomic alterations in retinoblastoma tumors of Argentine patients.

Introduction: Retinoblastoma is initiated by inactivation of gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside , are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.

Aim: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development.

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS).

An odd case of heteroallelic acute intermittent porphyria in the Argentinean population.

AIP is an acute liver disorder caused by a deficiency of porphobilinogen deaminase (PBGD) characterized by neuroabdominal symptoms. It is an autosomal dominant disease. However, homozygous dominant AIP (HD-AIP) have been described.

[Tungiasis acquired in Chaco Province, Argentina].

A four-year old girl and her mother were assisted at the Hospital de Clínicas for 0.7 cm wide papules with a black central core and a white hyperkeratotic halo of fourteen days of development. The girl presented these lesions on the second and fourth toe of one of her feet, and her mother on the ankle.