Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...

Identifying low-abundance mutations within wild-type DNA is important in several fields of medicine, including cancer, prenatal diagnosis and infectious diseases. However, utilizing the clinical and diagnostic potential of rare mutations is limited by sensitivity of the molecular techniques employed, especially when the type and position of mutations are unknown. We have developed a novel platf...

BACKGROUND It is largely unknown how frequently low-abundance HIV drug-resistant variants at levels under limit of detection of conventional genotyping (<20% of quasi-species) are present in antiretroviral-experienced persons experiencing virologic failure. Further, the clinical implications of low-abundance drug-resistant variants at time of virologic failure are unknown. METHODOLOGY/PRINCIP...

Eighteen years ago, my wife and I bought a little “get-away” house in village overlooking the sea southern Spain. So wrapped up were we all things to fix paint that never paid much attention creamy-white, pumpkin-seed–shaped “things” dangling from ceiling walls – which any event soon disappeared whirlwind of enthusiastic vacuuming unleashed. There were, however, always more these creatures wait...

BACKGROUND Metastases represent a small percentage of the malignancies affecting the breast, and only 5% of melanomas originate from non-cutaneous sites. Multiple genetic aberrations have been associated with the development of melanocytic lesions, including BRAF V600E mutation. Mutations in PTEN gene have also been related to the pathogenesis of multiple malignancies. PURPOSE/METHOD This is ...

Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Irani...

Myeloproliferative Neoplasm (MPN) are a clonal disorder in hematopoietic stem cells (HSC). MPN is categorized to 8 subclasses, including chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocytopenia (ET), primary myelofibrosis (PMF), systematic mastositosis (SM), chronic eosinophilic leukemia (CEL), chronic neutrophilic leukemia (CNL), and unclassified myelofibrosis disorde...

Background: Pseudomonas aeruginosa is the main pathogen responsible for lung destruction in cystic fibrosis, becoming difficult to eradicate chronic infection. Aims: To describe antibiotic resistance among strains of P.aeruginosa isolated from sputa patients with fibrosis. investigate vivo and vitro expression genes related anaerobic growth. Methods: Sputa (in vivo) vitro) 26 were obtained duri...