Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel variant.

L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the gene thought to underlie both. We present a novel pathogenic variant in someone with L1 syndrome and Hirschsprung disease.

Children's Learning and Goal-Setting at a Diabetes Camp.

Objective. This study provides information about children's learning and goal attainment related to change in their self-management skills during a diabetes camp. Design and methods.

Differential responses of pancreatic β-cells to ROS and RNS.

Reactive oxygen species (ROS) and reactive nitrogen species (RNS) direct the activation of distinct signaling pathways that determine cell fate. In this study, the pathways activated and the mechanisms by which ROS and RNS control the viability of pancreatic β-cells were examined. Although both nitric oxide and hydrogen peroxide (H₂O₂) induce DNA damage, reduce cell viability, and activate AMPK, the mechanisms of AMPK activation and cell death induction differ between each reactive species.

Cytokine-mediated β-cell damage in PARP-1-deficient islets.

Poly(ADP)-ribose polymerase (PARP) is an abundant nuclear protein that is activated by DNA damage; once active, it modifies nuclear proteins through attachment of poly(ADP)-ribose units derived from β-nicotinamide adenine dinucleotide (NAD(+)). In mice, the deletion of PARP-1 attenuates tissue injury in a number of animal models of human disease, including streptozotocin-induced diabetes. Also, inflammatory cell signaling and inflammatory gene expression are attenuated in macrophages isolated from endotoxin-treated PARP-1-deficient mice.

Association of nursing workload and unplanned extubations in a pediatric intensive care unit.

Objective: To estimate nursing workload from the patient acuity level (PAL) assigned to patients in a pediatric intensive care unit (PICU) and to determine its influence on unplanned extubations.

Design: Prospective cohort study.

Setting: The 19-bed PICU of an urban, university-affiliated, tertiary children's hospital.

Children with diabetes: perceptions of supports for self-management at school.

Diabetes affects many children. Researchers know little about children's perceptions of what type of support they need at school, which was a focus of this study. Group interviews and surveys examined children's perceptions of support in caring for their diabetes (type I diabetes) from school nurses, teachers, and friends.

Poly(ADP-ribose) polymerase-1 regulates activation of activator protein-1 in murine fibroblasts.

Poly(ADP-ribose) polymerase (PARP)-1 is activated in response to DNA injury in the nucleus of eukaryotic cells and has been implicated in cell dysfunction in inflammation. We investigated the role of PARP-1 on the AP-1 pathway, which is involved in the signal transduction of the inflammatory process. In murine wild-type fibroblasts, oxidative challenge by peroxynitrite and hydrogen peroxide or immunological challenge by IL-1 and 20% FCS induced phosphorylation of the mitogen-activated protein kinase kinase-4, activation of c-Jun N-terminal kinase (JNK), and DNA binding of AP-1.