Adaptive resistance to targeted therapy such as BRAF inhibitors represents in melanoma a major drawback to this otherwise powerful treatment. Some of the underlying molecular mechanisms have recently been described: hyperactivation of the BRAF-MAPK pathway, of the AKT pathway, of the TGFβ/EGFR/PDGFRB pathway, or the low MITF/AXL ratio. Nevertheless, the phenomenon of early resistance is still n...

BACKGROUND Accurate and timely medication information at the point of discharge is essential for continuity of care. There are scarce data on the clinical significance if poor quality medicines information is passed to the next episode of care. This study aimed to compare the number and clinical significance of medication errors and omission in discharge medicines information, and the timelines...

Eventration is a well-known congenital malformation of the diaphragm, usually asymptomatic and diagnosed incidentally on chest radiography. It is sometimes associated with a number of other congenital syndromes and anomalies. We report a rare case of eventration of left hemidiaphragm associated with gastric volvulus, ipsilateral thyroid agenesis and microphthalmia.

Cutaneous malignant melanomas share a number of molecular attributes such as limitless replicative potential that define capabilities acquired by most malignancies. Accordingly, much effort has been focused on evaluating and validating protein markers related to these capabilities to function as melanoma prognostic markers. However, a few studies have also highlighted the prognostic value of ma...

The transcription factor microphthalmia (MITF) is required for the formation of normal melanocytes during embryonic development and for the expression of pigment cell-specific markers, which are the downstream transcriptional targets of MITF. It also seems to be crucial for the survival of malignant melanocytes. The special interest of this review is the possible utility of MITF as a marker of ...

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of the deleted genes, TMX3, was expressed in the retinal neuroepithelium and lens epithelium in the...

Nepeta (Lamiaceae) is an important genus with beneficial medicinal properties. N. sintenisiiBornm. has been used in folk medicine of Iran to cure various diseases. We investigated theanti-melanogenesis effects of n-hexane, MeOH, CH2Cl2, n-BuOH, EtOAc, and H2O extractsisolated from the plant in B16 melanoma cells. Various assays including cytotoxicity, mushroomtyrosinase inhibition, inhibition o...

Genes with common profiles of the presence and absence in disparate genomes tend to function in the same pathway. By mapping all human genes into about 1000 clusters of genes with similar patterns of conservation across eukaryotic phylogeny, we determined that sets of genes associated with particular diseases have similar phylogenetic profiles. By focusing on those human phylogenetic gene clust...