Objective: To investigate effect of mannose-binding lectin (MBL) genetic polymorphisms and phenotype in chronic hepatitis C and its impact on response to antiviral therapy in children.
Methods: Fifty four children with chronic hepatitis C, aged 2.5-18 years were enrolled.
Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speech disturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of the current report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8-year-old girl with confirmed 15q11;12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge it is the first report of such skeletal symptoms in patient with a diagnosis of AS.
View Article and Find Full Text PDFInfection with HIV represents a significant global health problem, with high infection rates and high mortality worldwide. Treatment with antiretroviral therapy is inaccessible to many patients and efficacy is limited by development of resistance and side effects. The interactions of HIV with the human immune system, both innate and humoral, are complex and complicated by the profound ability of the virus to disable the host immune response.
View Article and Find Full Text PDFPreterm neonates are susceptible to infection due to a combination of sub-optimal immunity and increased exposure to invasive organisms. Mannose-binding lectin (MBL) is a component of the innate immune system, which may be especially important in the neonatal setting. The objective of this study was to investigate the impact of MBL on susceptibility and severity of infection in preterm neonates during their first month of life.
View Article and Find Full Text PDFBackground: Mannose-binding lectin (MBL; encoded by MBL-2) is a circulating pattern-recognition molecule that recognizes microbial carbohydrate motifs, leading to complement activation and cell lysis. Mutations in the MBL-2 promoter and of the MBL-2 gene exon 1 result in reduced protein levels and increased susceptibility to infection. We have investigated the effect of MBL-2 polymorphisms on susceptibility and progression of HIV-1 infection in children.
View Article and Find Full Text PDFHighly active antiretroviral therapy (HAART) slows the progression of human immunodeficiency virus (HIV) disease and lowers mortality and morbidity in children. Coincident with these advances, an increasing number of side effects are being reported. We describe an adolescent boy with perinatally acquired HIV infection who developed significant bilateral breast enlargement as a result of HAART.
View Article and Find Full Text PDFUnlabelled: The aim of this study was to assess the results of 12-month lamivudine therapy in children with chronic hepatitis B.
Material And Methods: The study included 24 children (14 boys and 10 girls) aged from 7 to 18 years with chronic hepatitis B diagnosed according to current criteria. Lamivudine was administred in a daily dose of 3-5 mg/kg up to 100 mg for twelve months.