Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report.

We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and deep-set nails, metatarsal abductus, and cross-fused, small echogenic kidneys. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH variants. We reviewed the literature and compared our patient's phenotype with previously reported cases of SCD.

Fatal Gastrointestinal Hemorrhage in a Patient with Brunner's Gland Hyperplasia.

Brunner's gland hyperplasia is a rare cause of duodenal mass and gastrointestinal hemorrhage. Imaging and esophagoduodenoscopic evaluation of this condition are frequently consistent with a duodenal malignancy often resulting in surgical resection. However, the malignant potential of these lesions is still unknown, and most are benign. We report the case of a 74-year-old man who presented with fatal gastrointestinal bleeding and esophagoduodenoscopy findings consistent with a duodenal mass and mucosal ulceration. At autopsy, histologic examination of the mass revealed Brunner's gland hyperplasia with associated ulcer formation. In this report, we review the findings associated with this case as well the literature regarding presentation, clinical associations, and treatment of Brunner's gland hyperplasia.

The importance of fidelity in peer-based programs: the case of the Wellness Recovery Action Plan.

TOPIC: This article reflects on the importance of fidelity in the delivery of the peer-based Wellness Recovery Action Plan. PURPOSE: The purpose of this account is to describe efforts being made to preserve the evidenced-based practice of the Wellness Recovery Action Plan in ways that sustain the core value of self-determination, maintain fidelity to its copyrighted curriculum, and support its positive impact for all people. SOURCES USED: The writing is based on personal knowledge and research literature related to the Wellness Recovery Action Plan. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: The implementation and training of facilitators committed to the value of self-determination is critical to the fidelity of the evidence-based, peer-delivered Wellness Recovery Action Plan. Value-based training and WRAP standards are essential to ensure that WRAP continues to contribute substantially to transformative change.

Pennsylvania Certified Peer Specialist initiative: training, employment and work satisfaction outcomes.

OBJECTIVE: Certified Peer Specialist training initiatives leading to paid peer support positions are increasing nationally. This longitudinal study examines a comprehensive set of outcomes associated with such an initiative undertaken in Pennsylvania beginning in 2004. METHODS: Certified Peer Specialist Training participants in three regions of Pennsylvania responded to a 60-item, multiple choice knowledge test based on the Certified Peer Specialist training curriculum. Additionally, these individuals were asked to provide permission to be contacted up to one year after completing the program to obtain employment information related to their experience as a certified peer specialist. RESULTS: Ninety-seven percent of the trainees successfully completed the program with a 22% increase in knowledge. Eighty-two percent were working one year later. Peer specialists were very satisfied with their employment; felt accepted by co-workers and reported receiving good, but infrequent supervision. CONCLUSIONS: The results suggest that these initiatives can be successfully implemented, although greater attention is needed to ensure that new jobs are being created for trainees and that they are being properly supervised like all other employees.