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Purpose: To outline structures for regional genetic services support centers that improve access to clinical genetic services., Methods: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system., Results: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals., Conclusion: Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist-e.g., distribution of a workforce trained in genetics-that regional genetic services support centers cannot resolve.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

As technology continues to improve, surgeons must regularly re-evaluate techniques to improve efficacy and outcomes. The Bankart repair for shoulder instability has evolved from open reconstruction to minimally invasive arthroscopic techniques, which have the benefit of less pain and morbidity. This technical description and video present a modern arthroscopic technique for Bankart repair used at our institution with high success in an athletic population.

Background: Premonitory urges are central to emerging behavioral models of chronic tic disorders (CTD). Urge reduction has been proposed as a behavioral explanation for tic maintenance and exacerbation as well as the efficacy of behavioral treatments. Prior investigations have produced inconsistent findings despite common methodologies. The current study evaluated the possibility that data aggregation obscures distinct and meaningful patterns of change in urge ratings when tics are freely expressed versus suppressed., Method: Participants (n = 12) included children with moderate-to-marked tic severity and noticeable premonitory urges. Tic frequencies and urge ratings were obtained at 15 s and 10-s intervals, respectively, across an alternating sequence of 10-min tic freely and 40-min tic suppression conditions. Patterns were established using a two step approach., Results: Five distinct patterns of urge rating change emerged, suggesting data aggregation may obscure meaningful patterns in the urge-tic relationship when tics are completed versus suppressed., Limitations: Eligibility criteria may have unintentionally excluded younger affected children and included older participants with more severe tic disorders than commonly seen. Additional research with less stringent eligibility criteria and a larger sample size will help validate the results., Conclusions: The relationship between urges and tics is much more complex than previously theorized. Investigations that rely on global assessments of urge and tic severity and/or assume uniformity when aggregating participant data may obscure meaningful differences in the urge-tic relationship. Future investigations should examine the possibility that individual differences and/or developmental considerations modulate the functional urge-tic relationship., (Copyright © 2015. Published by Elsevier Ltd.)

Objective: To evaluate the emotional and behavioral functioning of children with bladder exstrophy-epispadias complex (BEEC), taking into account developmental and gender considerations. This study also sought to overcome methodological limitations of previous studies evaluating psychological well-being of children with BEEC., Methods: Eighty-six children were consecutively evaluated using the parent report version of the Behavior Assessment System for Children during visits to a multidisciplinary urology clinic., Results: Results indicated normative emotional and behavioral functioning across the sample. However, there was a significant effect of age, such that older children consistently had worse internalizing symptoms and adaptive functioning. Males tended to have more externalizing problems as they aged, and also tended to have lower levels of adaptive functioning but this was independent of age. The level of psychological impairment was unrelated to the specific type of BEEC, and was also unrelated to whether or not the patient had undergone continence surgery., Conclusion: Children with BEEC have a greater likelihood of experiencing a wide range of emotional and behavioral problems as they reach adolescence. These findings point to the need to prevent potential psychological distress by intervening with these children before they become clinically impaired., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Two structurally related triterpenoids 1 and 2 from pink peppercorn (berries of Schinus terebinthifolius) are identified and characterized as active site-directed specific competitive inhibitors of the three classes of secreted 14 kDa phospholipase A2. The inhibitors not only protect the active site histidine from alkylation but also inhibit the action of secreted phospholipase A2 from pig pancreas, human synovial fluid, and bee venom. Detailed X-ray crystallographic results on the structures of the inhibitors are provided. By physical methods and X-ray crystallography the triterpenoids were identified as masticadienoic acid and masticadienolic acid (schinol). Several other triterpenoids were ineffective as inhibitors of phospholipase A2; however certain ganoderic acid derivatives showed noticeable inhibition. Results show that the side chain of these acidic tetracyclic terpenoids can access the catalytic-site region of phospholipase A2, whereas the acyclic nucleus is at the interfacial recognition region. The selectivity of the assay protocol used here is demonstrated by the fact that the original screen of ethyl acetate extracts of 60 commercially available spices and herbs was carried out with phospholipase A2 from pig pancreas, and only one extract showed inhibitory action on the hydrolytic activity in the scooting mode. Under such assay conditions the enzyme remains tightly bound to the surface of the substrate vesicles. In this way, nonspecific effects of additives that promote desorption of the enzyme from the substrate vesicle surface, under conditions in which the binding of the enzyme to the vesicle is weak, are avoided. The assay protocol is useful for the kinetic characterization of the inhibitors of phospholipase A2, and it does not give false positive results with amphiphilic and hydrophobic compounds, as is the case with virtually all assay systems in use.