Caring For a Central Line at Home

The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder

Congenital diarrheas and enteropathies (CoDEs) are severe diseases that are often associated with a significant economic burden of diagnosis and treatment. In this analysis by Sari Acra and colleagues, they discuss the costs involved in delayed diagnosis and the importance of expert evaluation and early genetic testing.

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency

Mutations in the gene TTC7A cause intestinal and epithelial defects and a severe early onset intestinal disease. Using a cell-based drug screen and validation in a zebrafish model of disease Aleixo Muise and colleagues discovered that the FDA-approved drug Leflunomide may reverse cell and organ defects seen in TTC7A disease. In collaboration with Jay Thiagarajah and colleagues Leflunomide was found to also reverse changes in patient-derived cells, suggesting that the drug may be repurposed for the treatment of TTC7A disease.

Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease

Mutations in the gene MYO5B cause the congenital diarrheal disease, microvillus inclusion disease (MVID). Using a mouse model of MVID, Jim Goldenring and colleagues found that administration of Lysophosphatidic Acid (LPA) which is found in many common foods is able to reverse some of the epithelial changes seen in MVID mice.