[Role of defective intracellular proteolysis in human degenerative diseases].

Although intracellular protein synthesis has been studied extensively, protein degradation and disposal, know as proteolysis, has been relatively neglected. Modern studies which led two Nobel prizes (de Duve in 1950 and Herschko, Rose and Ciechanover in 1980) established that proteolysis is ensured by two separate but complementary mechanisms: lysosomes responsible for auto and heterophagy and the Ubiquitin-Proteasome System (UPS). The UPS involves ubiquitin, a small molecule consisting of 76 amino acids found in all eukaryotic cells that ensures the identification of the protein to be degraded and its transport to the proteasome, an intracellular complex with enzymes which degrade unneeded or damaged proteins.

Contributions of pediatrics and pediatric pathology to the body of knowledge regarding human disease.

A century or so ago, pediatrics and pediatric pathology did not exist. Then, many fetuses/newborns died in utero or shortly after birth. With time, the issue of sepsis was addressed, and a greater number of newborns survived.

Molecular cytogenetic anomalies and phenotype alterations in a newly established cell line from Wilms tumor with diffuse anaplasia.

The novel continuous cell line WT-Pe.1 was established in vitro from Wilms tumor with histological features of diffuse anaplasia. The cultures grew as poorly differentiated epithelial-like cells with pleomorphic polygonal shapes and formation of typical monolayers.

DOR-1, A novel CD10+ stromal cell line derived from progressive Langerhans cell histiocytosis of bone.

Background: Langerhans cell histiocytosis (LCH) is granulomatous proliferative disorder characterized by the presence of activated Langerhans cells admixed with macrophages, lymphocytes, and eosinophils. In an effort to obtain an LCH ex vivo model, we succeeded in establishing the DOR-1 cell line from an LCH lesion of bone in a 3-year-old girl.

Procedure: The DOR-1 cell line was established from a CD1a immunoreactive LCH lesion of bone maintained in long-term cell culture.

Molecular cytogenetic aberrations in CD30+ anaplastic large cell lymphoma cell lines.

Anaplastic large cell lymphomas (ALCL) in children represent a heterogeneous group of neoplasms with regard to the cell lineages involved. The chromosomal 5q35 breakpoint (bp) and the expression of the NPM/ALK fusion gene are the most remarkable molecular cytogenetic features of these malignancies. To identify new locations of ALCL-related oncogenes, comparative genomic hybridization (CGH) was applied to three ALCL cell lines (SU-DHL-1, Karpas 299, and DEL) exhibiting the 5q35 bp and expressing the NPM/ALK transcript.

Multifocal myocardial necrosis: a distinctive cardiac lesion in cystic fibrosis, lipomatous pancreatic atrophy, and Keshan disease.

Multifocal myocardial necrosis (MMN) is an unusual cardiomyopathy of childhood, characterized by multiple patchy areas of myocardial fiber necrosis/fibrosis involving mainly the middle part of the left ventricle, but also, to a lesser extent, the right ventricle and the atria. These necrotic lesions are isolated and are not accompanied by an inflammatory reaction or vascular alterations. They are responsible for acute cardiac failure.