Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles, and dentate nuclei with vermian absence or hypogenesis. This anomaly can be isolated or part of a larger spectrum of cerebral abnormalities. At least 90 cases are described in the literature and it has been associated with VACTERL and Gomez-Lopez-Hernandez syndrome (GLHS). The most common congenital syndrome associated with RES is GLHS, a rare presumed genetic disorder with over 30 cases thus far described in the literature. No genetic cause has been identified for RES or GLHS. We report two probands diagnosed with GLHS based on clinical criteria. Each proband had RES and bi-parietal scalp alopecia as well as neurologic findings and phenotypic features including trigeminal anesthesia, borderline hypertelorism, midface retrusion, and motor delay. Oliginucleotide-SNP microarray on the male proband revealed a 1.05 Mb copy duplication of uncertain clinical significance at 15q21.3 while oligonucleotide-SNP microarray for the female proband did not reveal any abnormalities. Exome sequencing (ES) was performed on both patients and did not identify any variants that could explain the GLHS phenotype. To our knowledge, these are the first two patients with GLHS described in the literature to undergo ES. Both patients had mild neurologic manifestations requiring physical therapy in early life without known diagnostic cause. Patients found to have scalp alopecia or trigeminal anesthesia with gross motor delay should be evaluated for RES or GLHS as well as screened for associated syndromes and have a complete neurodevelopmental evaluation.

Farm to Work: Development of a Modified Community-Supported Agriculture Model at Worksites, 2007-2012.

BACKGROUND: The Farm to Work program is a modified community-supported agriculture model at worksites in Texas. COMMUNITY CONTEXT: The objective of the Farm to Work program is to increase fruit and vegetable intake among employees and their households by decreasing cost, improving convenience, and increasing access while also creating a new market for local farmers at worksites. The objectives of this article were to describe the development, implementation, and outcome of a 5-year participation trend analysis and to describe the community relationships that were formed to enable the successful implementation of the program. METHODS: The Farm to Work program began in November 2007 as a collaborative effort between the nonprofit Sustainable Food Center, the Texas Department of State Health Services, the Web development company WebChronic Consulting LLC, and Naegelin Farm. The program provides a weekly or biweekly opportunity for employees to order a basket of produce online to be delivered to the worksite by a local farmer. A 5-year participation trend analysis, including seasonal variation and sales trends, was conducted using sales data from November 2007 through December 2012. OUTCOME: The total number of baskets delivered from November 2007 through December 2012 was 38,343; of these, 37,466 were sold and 877 were complimentary. The total value of sold and complimentary baskets was $851,035 and $21,925, respectively. Participation in the program increased over time and was highest in 2012. INTERPRETATION: The Farm to Work program increased access to locally grown fruits and vegetables for employees and created a new market for farmers. Increased program participation indicates that Farm to Work can increase employees' fruit and vegetable consumption and thus help prevent chronic diseases in this population.