macrophage activating syndrome (mas) is a life-threatening disease seen in autoimmune diseases including lupus erythematosus, rheumatoid arthritis, still's disease, polyarteritis nodosa. it is characterized by fever, pancytopenia, liver failure, coagulopathy, and neurologic symptoms and high serum ferritin. a 27 yr. old female patient was admitted in shahid mostafa khomeini hospital (tehra...

platelet activating factor (paf) is a novel signaling phospholipids that in addition to platelet activation has many biological properties. the acrosome reaction, as an essential step in mammalian fertilization, can occur in response to several agents such as paf. therefore, the present study aimed to assess the effect of paf on the motility and acrosome reaction of ram spermatozoa. semen was c...

Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was ...

Somatic mutations activating telomerase reverse-trancriptase promoter were recently identified in several tumour types. Here we identify frequent similar mutations in human hepatocellular carcinomas (59%), cirrhotic preneoplastic macronodules (25%) and hepatocellular adenomas with malignant transformation in hepatocellular carcinomas (44%). In hepatocellular tumours, telomerase reverse-transcri...

Previously an increased frequency of KIT aberrations in mucosal melanomas was reported, whereas c-KIT in most types of cutaneous melanomas does not appear to be of pathogenetic importance. Imatinib has become the standard of care in other cancers with KIT mutations such as gastrointestinal stromal tumors. Recently 12 cases of metastatic melanoma and KIT-activating mutations have been published ...

Anal melanoma is an aggressive but rare malignancy. Patients commonly present with very advanced or even metastatic disease. Risk factors for anal melanoma are family history and an activating mutation of C-KIT. Surgical excision remains the mainstay of therapy. The presence of activating mutations of C-KIT has prompted use of C-KIT inhibitors such as imatinib and sunitini. Early diagnosis and ...

objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...

BACKGROUND Epidermal growth factor receptor (EGFR) mutations are present in the majority of patients with non-small cell lung cancer (NSCLC) responsive to the EGFR tyrosine kinase inhibitors (TKIs) gefitinib or erlotinib. These EGFR-dependent tumors eventually become TKI resistant, and the common secondary T790M mutation accounts for half the tumors with acquired resistance to gefitinib. Howeve...

We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCNJ11 that encode the Kir6.2 subunit of the beta-cell ATP-sensitive K(+) channel. Some of these patients were diagnosed after 3 months of age and presented with ketoacidosis and marked hyperglycemia, which could have been diagnosed as type 1 diabetes. We hypothesized that KCNJ11 mutations could pre...