126 novel mutations in Italian patients with neurofibromatosis type 1.

Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last 11 years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 607 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by denaturing high pressure liquid chromatography (DHPLC) analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products.

Frequency of NFKBIA deletions is low in glioblastomas and skewed in glioblastoma neurospheres.

The NF-kB family of transcription factors is up-regulated in inflammation and different cancers. Recent data described heterozygous deletions of the NF-kB Inhibitor alpha gene (NFKBIA) in about 20% of glioblastomas (GBM): deletions were mutually exclusive with epidermal growth factor receptor (EGFR) amplification, a frequent event in GBM. We assessed the status of NFKBIA and EGFR in 69 primary GBMs and in corresponding neurospheres (NS).

Gene signatures distinguish stage-specific prostate cancer stem cells isolated from transgenic adenocarcinoma of the mouse prostate lesions and predict the malignancy of human tumors.

The relevant social and economic impact of prostate adenocarcinoma, one of the leading causes of death in men, urges critical improvements in knowledge of the pathogenesis and cure of this disease. These can also be achieved by implementing in vitro and in vivo preclinical models by taking advantage of prostate cancer stem cells (PCSCs). The best-characterized mouse model of prostate cancer is the transgenic adenocarcinoma of the mouse prostate (TRAMP) model.

Inappropriate prescribing of compounded antiobesity formulas in Brazil.

Volunteers posing as patients underwent paid medical consultations at the offices of 107 Brazilian doctors (in two Brazilian cities) with the purpose of obtaining an antiobesity prescription. In 80.3% of 71 São Paulo visits, as well as in 47.

[Surgical aspects of thrombosis in the portal system (author's transl)].

The Authors present and discuss clinical and therapeutic aspects of several cases of chronic portal thrombosis, troncular and radicular, either isolated or variously associated. Splenoportography and selective arteriography do not always provide a clear-cut picture of the vascular situation, particularly in the presence of mural thrombi. Surgery may be needed as an emergency measure in cases of hemorrhage, but the best results are obtained if it can be done electively.