Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features.

Design: Retrospective analysis of the Italian data set of patients with TNDM.

Identification of a De Novo Xq26.2 Microduplication Encompassing Gene in a Child with Intellectual Disability.

Long non-coding RNAs (lncRNAs), defined as transcripts of >200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson's, Huntington's, Alzheimer's diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.

Pregnancy and human herpesvirus 8 reactivation in human immunodeficiency virus type 1-infected women.

To investigate the impact of pregnancy on human herpesvirus 8 (HHV-8) reactivation in human immunodeficiency virus type 1 (HIV-1)-infected women, the HHV-8 DNA presence and load were analyzed in peripheral blood mononuclear cells (PBMCs) and cervicovaginal secretions (CVSs) from 15 pregnant women coinfected with HIV-1 and HHV-8. HHV-8 detection was analyzed in relation to anti-HHV-8 antibodies and HIV-1-related parameters. Nucleotide sequence analysis of an ORFK1 hypervariable region of the HHV-8 strains was performed.

Newly diagnosed HIV-1 infections in pregnancy: evidences from a cohort study in south-eastern Italy.

The authors report and discuss the characteristics of 22 women who discovered their HIV seropositivity while pregnant. Most of the women had never been tested for HIV and this occurred not only for 'not at risk' women but also for sexual partners of HIV-infected men. Several infections were diagnosed late in pregnancy when most women were already immunodeficient.

High seroprevalence of human herpesvirus 8 (HHV-8) in HIV-1-infected pregnant women of Southeastern Italy: association with injection drug use and hepatitis C virus infection.

The seroprevalence of human herpesvirus 8 (HHV-8) in a group of HIV-1-infected pregnant women and in mother-child pairs from Southeastern Italy (Apulia) was determined. Blood was collected from 49 HIV-1-infected women during pregnancy or at delivery as well as from their children. Samples were analysed for the presence of antibodies to the latency-associated nuclear antigen and a structural antigen encoded by open reading frame 65.

Correlates of HIV-1 shedding in cervicovaginal secretions and effects of antiretroviral therapies.

Objectives: To evaluate the determinants of HIV-1 RNA shedding in cervicovaginal secretions and the effects of antiretroviral therapy in a group of infected women.

Methods: A total of 122 women from whom paired peripheral blood and cervicovaginal lavage samples were available were enrolled in the study. HIV-1 RNA was quantified in the plasma and cell-free fraction of cervicovaginal lavages by the nucleic acid sequence-based amplification assay (lower limit of detection 80 copies/ml).