Late onset presentation of Leigh syndrome on two cases: a propósito de dois casos.

Síndrome de Kindler - relato de dois casos

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosens...

Metamorfosis: Un Marco para el Análisis de Requisitos Funcionales

Resumen. Este artículo describe el Modelo de Realización de Metamorfosis. El propósito principal de este marco es proporcionar la base conceptual necesaria para el establecimiento de vínculos persistentes y controlables entre la especificación de los requisitos funcionales del sistema (expresado como un Modelo de Casos de Uso) y el producto de su análisis (representado a través de un Modelo de ...

[Inguinal cellulitis-adenitis in group B streptococcal late-onset sepsis].

Cellulitis-adenitis syndrome is a well-known presentation of Group B Streptococcus (GBS) late-onset sepsis in children. Although face and neck are most frequently involved, other locations can also be affected. Inguinal presentation is uncommon, but it may be the first clinical manifestation of a GBS bacteremia. We present two cases of cellulitis-adenitis syndrome with inguinal involvement in t...

Coment on the study "Abordaje contralateral en aneurismas de la arteria cerebral media con segmento M1 largo: a propósito de dos casos" de Arrese et al.

Rare association of schizophrenia and unilateral Graves’ disease with contralateral thyroid hemiagenesis in two cases of McCune-Albright syndrome

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of Gs protein. Clinical presentation is varied and is depend...