Coagulation factor V (FV) deficiency is a rare bleeding disorder characterized by low coagulant and antigen levels of FV with bleeding symptoms ranging from mild to severe. Only a limited number of mutations have been reported because of the large size of the factor V gene (F5) as well as the low prevalence. In this study, we have identified four novel mutations in F5 in five unrelated patients with congenital FV deficiency. All the patients, including two with undetectable FV activity, were asymptomatic and were found to have prolonged prothrombin time and activated partial thromboplastin time during preoperative screening or routine examinations. All four mutations found in this study are either missense or inframe deletion. This is in contrast with previous reports of a high frequency of mutations introducing premature termination codons in inherited FV deficiency. Missense mutations of F5 might produce a mild phenotype and are not frequently diagnosed. Although FV deficiency is a very rare disorder with a predicted incidence of one in 1 million, this study suggests that the numbers of F5 mutations, especially missense mutations, are higher than estimated.
Severe thrombocytopenia secondary to cytomegalovirus (CMV) infection is rare in immunocompetent hosts. We describe a case of severe thrombocytopenia secondary to CMV infection in an immunocompetent 30-year-old man who presented with pyrexia and bleeding tendency. A diagnosis of immune thrombocytopenia (ITP) was made following hematological and serological testing, and bone marrow aspiration. Acute CMV infection was confirmed by serological testing, antigenemia, and detection of CMV-DNA. Corticosteroid therapy was ineffective and intravenous immunoglobulin (IVIG) was therefore administered. This resulted in immediate recovery of the platelet count and cessation of nasal bleeding. Early IVIG administration should be considered in steroid-resistant cases.
Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a primary intestinal T-cell lymphoma proposed as a new disease entity in the revised fourth World Health Organization classification. Recent reports showed that MEITL is characterized by a poor prognosis and a high frequency of local relapse and extra-intestinal involvement, including the central nervous system (CNS)
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