Updated consensus guidelines on the management of Phelan–McDermid syndrome

Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale genotype–phenotype investigations. The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific guidelines based on iterative feedback and discussion. Taskforce leaders then established consensus within their respective specialty group and harmonized the guidelines. The knowledge gained over the past decade allows for improved guidelines to assess and monitor individuals with PMS. Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainly from caregiver report and the experience of clinical experts. These updated consensus guidelines on the management of PMS represent an advance for the field and will improve care in the community. Several areas for future research are also highlighted and will contribute to subsequent updates with more refined and specific recommendations as new knowledge accumulates

Experiências de Estágio: Contribuições para a Transição Universidade-Trabalho

As experiências de formação no ensino superior são fundamentais para o desenvolvimento profissional. Este estudo teve por objetivo compreender de que forma as experiências de estágio contribuem para o desenvolvimento da adaptabilidade de carreira e para a transição entre os papéis de estudante a profissional em formandos universitários. Participaram seis formandos de um curso de Engenharia Civil, com idades entre 22 e 29 anos. Foram realizadas entrevistas semi-estruturadas individuais, posteriormente analisadas quanto ao conteúdo. Os resultados revelaram que as experiências de estágio influenciam o desenvolvimento da adaptabilidade de carreira, especialmente nas dimensões de curiosidade e confiança. Além disso, várias características dos estágios mencionadas pelos entrevistados mostraram-se relacionadas ao desenvolvimento de carreira, revelando sua importância para o processo de transição do papel de estudante para o de profissional. O artigo conclui com implicações para a prática e a pesquisa

WIND TURBINE ANALYSIS AND IMPROVEMENT

The objective of this project was to improve the amount of energy delivered by the wind turbine on Atwater-Kent Laboratories. This was accomplished by adding a monitoring and switching module as well as a second, low power, inverter in parallel to the currently installed inverter. A contactor was used to switch between the two inverters, controlled by the power monitoring circuitry. Information on the turbine's output was also recorded and saved on a computer

Mechanical culture conditions effect gene expression: gravity-induced changes on the space shuttle

Hammond, T. G., E. Benes, K. C. O’Reilly, D. A. Wolf, R. M. Linnehan, J. H. Kaysen, P. L. Allen, and T. J. Goodwin. Mechanical culture conditions effect gene expression: gravity-induced changes on the space shuttle. Physiol Genomics 3: 163–173, 2000.—Three-dimensional suspension culture is a gravity-limited phenomenon. The balancing forces necessary to keep the aggregates in suspension increase directly with aggregate size. This leads to a self-propagating cycle of cell damage by balancing forces. Cell culture in microgravity avoids this trade-off. We determined which genes mediate three-dimensional culture of cell and tissue aggregates in the low-shear stress, low-turbulent environment of actual microgravity. Primary cultures of human renal cortical cells were flown on the space shuttle. Cells grown in microgravity and ground-based controls were grown for 6 days and fixed. RNA was extracted, and automated gene array analysis of the expression of 10,000 genes was performed. A select group of genes were regulated in microgravity. These 1,632 genes were independent of known shear stress response element-dependent genes and heat shock proteins. Specific transcription factors underwent large changes in microgravity including the Wilms’ tumor zinc finger protein, and the vitamin D receptor. A specific group of genes, under the control of defined transcription factors, mediate three-dimensional suspension culture under microgravity conditions. </jats:p