Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

State laws on intimate partner violence witnessed by children in the United States.

Intimate partner violence (IPV) is common, and almost half of all IPV takes place in relationships with children in the home. We inventoried laws in the 50 states and the District of Columbia in the United States of America (USA) focused on addressing IPV committed in the presence of children, as these laws could help prevent or remediate this critical health and social issue. Using WestLaw, a web-based legal research service, we identified over 1,200 statutes and 500 regulations.

CTLA4-Ig reduces muscle fiber damage in a model of Duchenne muscular dystrophy by attenuating pro-inflammatory gene expression in myeloid lineage cells.

Duchenne muscular dystrophy (DMD) is a lethal, muscle-wasting, genetic disease that is greatly amplified by an immune response to the diseased muscles. The mdx mouse model of DMD was used to test whether the pathology can be reduced by treatments with a CTLA4-Ig fusion protein that blocks costimulatory signals required for activation of T-cells. CTLA4-Ig treatments reduced mdx sarcolemma lesions and reduced the numbers of activated T-cells, macrophages and antigen presenting cells in mdx muscle and reduced macrophage invasion into muscle fibers.