Young adults with MSUD and their transition to adulthood: psychosocial issues.

Maple Syrup Urine Disease (MSUD) is an autosomal recessive condition with an incidence of 1 in 185,000 births worldwide. Regardless of the type of MSUD, treatment includes immediate and lifelong dietary restriction of isoleucine, leucine and valine. There is little known about the psychosocial impact of MSUD on the developmental milestones of emerging adulthood. We used a qualitative case study approach to explore the human experiences of MSUD on young adults (n = 8) and parents (n = 8). All participants were administered a semi-structured, qualitative interview as well as quantitative measures. Six core themes emerged: 1) lifelong strain of dietary management; 2) social isolation from peers and impact on dating; 3) impact of MSUD on academics and employment; 4) medical experiences and transition to adult care; 5) impact on family functioning; and 6) positive effects and growth. The results of this investigation highlight and expand awareness of the psychological and social needs of young adults with MSUD. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families.

Psychosocial issues in families affected by maple syrup urine disease.

The primary aim of this study was to ascertain the psychosocial issues faced by families affected by maple syrup urine disease (MSUD). The psychosocial adjustment and quality of life of children with MSUD were also described. Participants included 55 families and their children (ages 5 to 18 years) and teachers. Measures included a MSUD Family Survey, the Behavior Assessment System for Children (BASC) and the Pediatric Quality of Life Inventory (PedsQL). Parents reported via the MSUD Family Survey that the greatest sources of stress were financial and emotional. Many parents reported difficulty interacting with the medical staff and with schools. On the BASC, half of the children fell within the average range in psychosocial adjustment, although there were elevations in scales measuring attention, hyperactivity, and learning problems. On the PedsQL, the mean quality of life scores were closer to children with cancer than to a healthy sample. Despite the emotional and financial burden, parents reported that MSUD has also had a positive influence on their lives, leading to a world-view that is more compassionate and caring.

Recognition of a virus-encoded ligand by a natural killer cell activation receptor.

Natural killer (NK) cells express inhibitory and activation receptors that recognize MHC class I-like molecules on target cells. These receptors may be involved in the critical role of NK cells in controlling initial phases of certain viral infections. Indeed, the Ly49H NK cell activation receptor confers in vivo genetic resistance to murine cytomegalovirus (MCMV) infections, but its ligand was previously unknown. Herein, we use heterologous reporter cells to demonstrate that Ly49H recognizes MCMV-infected cells and a ligand encoded by MCMV itself. Exploiting a bioinformatics approach to the MCMV genome, we find at least 11 ORFs for molecules with previously unrecognized features of predicted MHC-like folds and limited MHC sequence homology. We identify one of these, m157, as the ligand for Ly49H. m157 triggers Ly49H-mediated cytotoxicity, and cytokine and chemokine production by freshly isolated NK cells. We hypothesize that the other ORFs with predicted MHC-like folds may be involved in immune evasion or interactions with other NK cell receptors.