A familial deletion of 10p12.1 associated with thrombocytopenia.

Thrombocytopenia can be inherited or acquired from a variety of causes. While hereditary causes of thrombocytopenia are rare, several genes have been associated with the condition. In this report, we describe an 18-year-old man and his mother, both of whom have congenital thrombocytopenia. Exome sequencing in the man revealed a 1006 kb maternally inherited deletion in the 10p12.1 region (arr[GRCh37] 10p12.1(27378928_28384564)x1) of uncertain clinical significance. This deletion in the THC2 locus includes genes ANKRD26, known to be involved in normal megakaryocyte differentiation, and MASTL, which some studies suggest is linked to autosomal dominant thrombocytopenia. In the family presented here, the deletion segregated with the congenital thrombocytopenia phenotype, suggesting that haploinsufficiency of one or both genes may be the cause. To our knowledge, this is the first report of a deletion of the THC2 locus associated with thrombocytopenia. Future functional studies of deletions of the THC2 locus may elucidate the mechanism for this phenotype observed clinically.

The impact of a health care transition clinic on spina bifida condition management and transition planning.

BACKGROUND: To better serve the growing population of individuals with spina bifida (SB) living into adulthood, pediatric SB clinics have developed structured health care transition (HCT) supports for adolescents and young adults. Evaluating the impact of structured HCT on SB-related chronic condition outcomes and transition planning goals is needed to assess such interventions. OBJECTIVE: This study explored the impact of a SB HCT Clinic on SB-related chronic condition management outcomes (e.g., reported bowel and bladder regimens and presence of pressure injury) and transition planning goals (e.g., decision-making, insurance, and transportation). METHODS: A retrospective chart review was conducted of young adults with SB who did and did not participate in an SB HCT Clinic before establishing an adult clinic to compare SB-condition outcomes and HCT planning goals between groups. Associations between demographic and clinical variables and outcomes were also assessed. RESULTS: The HCT group (n = 68) was more likely to use a bowel regimen (P < 0.01) compared to the non-HCT group (n = 94). There were no differences regarding bladder regimens or incidence of pressure injuries. For HCT planning, the groups differed regarding decision-making supports (P = 0.01). Additionally, the HCT group was more likely to use self-transportation (P = 0.01) or Medicaid transportation (P < 0.01). CONCLUSION: This single-center HCT program improved the use of a bowel regimen at the time of transfer to adult care and impacted HCT planning regarding decision-making and transportation. These initial findings support the need for further development and assessment of HCT programs for this population.

Impacts of the COVID-19 pandemic on people with spinal cord injury.

PURPOSE: Few studies have examined the impacts of the COVID-19 pandemic on the lives of people with spinal cord injury (SCI), a population uniquely vulnerable to pandemic-related stressors. This study examines the impact of the pandemic on three life domains (psychosocial health, health and health behavior, and social participation) and identifies risk factors for adverse psychosocial health impacts in a sample of people with SCI. METHOD: A diverse sample of 346 adults with SCI completed a survey assessing demographic, disability, health, and social characteristics, and perceived impacts of the pandemic. RESULTS: Many respondents reported no change on items reflecting psychosocial health, health and health behavior, and social participation; however, among those reporting change, more reported negative than positive impacts. Negative impacts were most striking with regard to psychosocial health and social engagement, with approximately half reporting a worsening of stress, depression, anxiety, and loneliness and a reduction in face-to-face interactions and participation in life roles. Regression analyses revealed that those at greater risk of adverse psychosocial impacts were women, were non-Black, were in poorer health, had greater unmet care needs, and were less satisfied with their social roles and activities. CONCLUSIONS: Although not universal, negative impacts were reported by many respondents 9-15 months into the pandemic. Future research should examine the impacts of the pandemic over time and on a wider range of outcomes. Such research could generate substantial benefits in understanding, preventing, or minimizing the adverse effects of the evolving pandemic and future public health emergencies in people with SCI. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Repairing Our View of Dementia.

This essay describes the author's experience with leading a virtual art tour for adults with dementia.

Applying the Prism Model to design arts and humanities medical curricula.

The arts and humanities (A&H) play a fundamental role in medical education by supporting medical learners' development of core competencies. Like all medical curricula, those integrating the A&H are more likely to achieve the desired outcomes when the learning domains, goals, objectives, activities, and evaluation strategies are well-aligned. Few faculty development programs focus on helping medical educators design A&H curricula in a scholarly manner. The Prism Model, an evidence-based tool, supports educators developing A&H medical curricula in a rigorous way for maximum impact. The model posits that the A&H can serve four pedagogical functions for medical learners: 1) skill mastery, 2) perspective taking, 3) personal insight, and 4) social advocacy. Although this model has been described in the literature, no practical guidance exists for medical educators seeking to apply it to the development of a specific curriculum. This paper provides a step-by-step demonstration of how to use the Prism Model to design an A&H curriculum. Beginning with the first step of selecting a learning domain through the final step of curriculum evaluation, this paper helps medical educators apply the Prism Model to develop A&H curricula with intentionality and rigour to achieve the desired learning outcomes.

Evaluating an intergenerational art and storytelling program with older adults and medical students.

Older adults in residential communities face loneliness and isolation, challenges exacerbated by COVID-19, leading to adverse physical and mental health outcomes. Intergenerational arts and humanities programs have been successful in addressing these challenges while also enabling medical learners to better understand aging populations. Draw YOUR Story, a program at a Houston residential senior living community, connects premedical and medical student volunteers with older adults through an art and storytelling activity. To evaluate the program, we conducted a focus group with older adults and pre and post-volunteering student surveys with questions about attitudes towards older adults and an Interpersonal Reactivity Index. Student surveys (n = 18) showed increased comfort working with older adults after volunteering (p = 0.02). Students who spent less time volunteering reported a decline in their perceptions of older adult quality of life, when compared to more frequent volunteers (p = 0.02). Older adults shared that the program encouraged learning new skills, offered time for reflection, connected them to medicine, and furthered desire for community. Draw YOUR Story benefitted students and older adults, increasing student comfort with older adults, providing aging adults opportunities to learn new skills and reflect, and building intergenerational connections.

Back to "normal" accessibility?

The author works at a nonprofit art studio for people with disabilities in Austin, Texas. The studio is having its first drawing class since the studio closed due to COVID-19 last spring. The author describes the struggles with accessibility of Susan, her first student to attend the studio in person since the pandemic. The author's initial thrill about in-person classes dulled, dissipated after hearing Susan's story and seeing her distress. She concludes that in the rush and excitement of this (hopefully) postpandemic world, we must take the opportunity to rethink what "back to normal" means. Perhaps we can replace our idea of normal with something more inclusive. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

A Three-part Quality Improvement Initiative to Increase Patient Satisfaction and Reduce Appointment Time.

INTRODUCTION: PediPlace, a busy pediatric not-for-profit clinic in Lewisville, Tex., struggles with prolonged patient wait times. This quality improvement (QI) project aimed to reduce appointment lengths and improve the patient experience. METHODS: PediPlace introduced 3 interventions: improved patient tracking to measure timing on the electronic health record interface, elimination of script repetition between medical assistants and providers, and patient art kits. RESULTS: From over 2,000 surveys indicated that patients were more satisfied; the percentage of negative survey comments decreased from 20% in 2017 and 2018 to under 10% in 2019. The overall rating of the clinic rose from 3.8 to 4.75 (on a scale of 1-5) after QI interventions as well. The number of patients not checked out declined from 49 errors in October-December 2018 to 25 errors in January-March 2019, indicating that this part of the initiative was initially successful. However, subsequent months experienced higher error rates. Analysis of over 20,000 appointments from June 2018 to July 2019 showed that appointment length did not change after interventions. CONCLUSIONS: There was no difference in appointment lengths between Hispanic/Latino patients and other patients, and an encouraging finding that suggests PediPlace providers are effective bilingual communicators. Furthermore, anecdotal evidence indicated that the art kits were positively received. The interventions appeared to improve the patient experience but did not impact appointment length. PediPlace plans to continue QI initiatives in the future.

An In Vitro Model for Assessing Corneal Keratocyte Spreading and Migration on Aligned Fibrillar Collagen.

BACKGROUND: Corneal stromal cells (keratocytes) are responsible for developing and maintaining normal corneal structure and transparency, and for repairing the tissue after injury. Corneal keratocytes reside between highly aligned collagen lamellae in vivo. In addition to growth factors and other soluble biochemical factors, feedback from the extracellular matrix (ECM) itself has been shown to modulate corneal keratocyte behavior. METHODS: In this study, we fabricate aligned collagen substrates using a microfluidics approach and assess their impact on corneal keratocyte morphology, cytoskeletal organization, and patterning after stimulation with platelet derived growth factor (PDGF) or transforming growth factor beta 1 (TGFß). We also use time-lapse imaging to visualize the dynamic interactions between cells and fibrillar collagen during wound repopulation following an in vitro freeze injury. RESULTS: Significant co-alignment between keratocytes and aligned collagen fibrils was detected, and the degree of cell/ECM co-alignment further increased in the presence of PDGF or TGFß. Freeze injury produced an area of cell death without disrupting the collagen. High magnification, time-lapse differential interference contrast (DIC) imaging allowed cell movement and subcellular interactions with the underlying collagen fibrils to be directly visualized. CONCLUSIONS: With continued development, this experimental model could be an important tool for accessing how the integration of multiple biophysical and biochemical signals regulate corneal keratocyte differentiation.

Fibroblast-fibronectin patterning and network formation in 3D fibrin matrices.

PURPOSE: We previously reported that fibroblasts migrating within 3-D collagen matrices move independently, whereas fibroblasts within 3-D fibrin matrices form an interconnected network. Similar networks have been identified previously during in vivo corneal wound healing. In this study, we investigate the role of fibronectin in mediating this mechanism of collective cell spreading, migration and patterning. METHODS: To assess cell spreading, corneal fibroblasts were plated within fibrillar collagen or fibrin matrices. To assess migration, compacted cell-populated collagen matrices were nested inside cell-free fibrin matrices. Constructs were cultured in serum-free media containing PDGF, with or without RGD peptide, anti-α5 or anti-fibronectin blocking antibodies. In some experiments, LifeAct and fluorescent fibronectin were used to allow dynamic assessment of cell-induced fibronectin reorganization. 3-D and 4-D imaging were used to assess cell mechanical behavior, connectivity, F-actin, α5 integrin and fibronectin organization. RESULTS: Corneal fibroblasts within 3-D fibrin matrices formed an interconnected network that was lined with cell-secreted fibronectin. Live cell imaging demonstrated that fibronectin tracks were formed at the leading edge of spreading and migrating cells. Furthermore, fibroblasts preferentially migrated through fibronectin tracks laid down by other cells. Interfering with cell-fibronectin binding with RGD, anti α5 integrin or anti fibronectin antibodies inhibited cell spreading and migration through fibrin, but did not affect cell behavior in collagen. CONCLUSIONS: In this study, a novel mode of cell patterning was identified in which corneal fibroblasts secrete and attach to fibronectin via α5ß1 integrin to facilitate spreading and migration within 3-D fibrin matrices, resulting in the formation of localized fibronectin tracks. Other cells use these fibronectin tracks as conduits, resulting in an interconnected cell-fibronectin network.