Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first exons (exons 1a-e), are uncommonly reported. We describe genetic and phenotypic characteristics for 15 individuals with CDKL5 partial gene deletions affecting the 5' UTR.

Recent Changes in Health Insurance Coverage and Access to Care by Mental Health Status, 2012-2015.

This study evaluates changes in access to care for adults by mental health status using data from a national sample.

Thiobenzothiazole-modified Hydrocortisones Display Anti-inflammatory Activity with Reduced Impact on Islet β-Cell Function.

Glucocorticoids signal through the glucocorticoid receptor (GR) and are administered clinically for a variety of situations, including inflammatory disorders, specific cancers, rheumatoid arthritis, and organ/tissue transplantation. However, glucocorticoid therapy is also associated with additional complications, including steroid-induced diabetes. We hypothesized that modification of the steroid backbone is one strategy to enhance the therapeutic potential of GR activation.

Alzheimer's disease: the strength of association of costs with different measures of disease severity.

Objective: To identify Alzheimer's disease (AD) severity measures for use in cost-effectiveness models that effectively capture the impact of AD on costs.

Methods: A review of the literature and data abstraction from papers that present 1) mean AD costs (direct, indirect, or total) by disease severity, defined using measure of cognition, functional status, and behavior; and/or 2) the results of regression analyses that estimate the strength of the association between AD costs and disease severity.

Results: All papers reviewed showed that mean total costs increase with disease severity regardless of severity-measurement method.

Long-term intravenous hydroxyurea infusions in patients with advanced cancer. A phase I trial.

Background: Hydroxyurea is an S-phase specific drug. Constant exposure of tumor cells with a low S-phase fraction to the agent may result in improved cell kill. Because of its short half-life, a continuous intravenous infusion may result in better tumor exposure than intake by mouth.