30 research outputs found
Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation
The ampulla of Vater is a complex cellular environment from which adenocarcinomas arise to form a group of histopathologically heterogenous tumors. To evaluate the molecular features of these tumors, 98 ampullary adenocarcinomas were evaluated and compared to 44 distal bile duct and 18 duodenal adenocarcinomas. Genomic analyses revealed mutations in the WNT signaling pathway among half of the patients and in all three adenocarcinomas irrespective of their origin and histological morphology. These tumors were characterized by a high frequency of inactivating mutations of ELF3, a high rate of microsatellite instability, and common focal deletions and amplifications, suggesting common attributes in the molecular pathogenesis are at play in these tumors. The high frequency of WNT pathway activating mutation, coupled with small-molecule inhibitors of β-catenin in clinical trials, suggests future treatment decisions for these patients may be guided by genomic analysis
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation
The ampulla of Vater is a complex cellular environment from which adenocarcinomas arise to form a group of histopathologically heterogenous tumors. To evaluate the molecular features of these tumors, 98 ampullary adenocarcinomas were evaluated and compared to 44 distal bile duct and 18 duodenal adenocarcinomas. Genomic analyses revealed mutations in the WNT signaling pathway among half of the patients and in all three adenocarcinomas irrespective of their origin and histological morphology. These tumors were characterized by a high frequency of inactivating mutations of ELF3, a high rate of microsatellite instability, and common focal deletions and amplifications, suggesting common attributes in the molecular pathogenesis are at play in these tumors. The high frequency of WNT pathway activating mutation, coupled with small-molecule inhibitors of beta-catenin in clinical trials, suggests future treatment decisions for these patients may be guided by genomic analysis
Exploring Wearables to Focus on the “Sweet Spot” of Physical Activity and Sleep After Hospitalization: Secondary Analysis
BackgroundInadequate sleep and physical activity are common during and after hospitalization, but their impact on patient-reported functional outcomes after discharge is poorly understood. Wearable devices that measure sleep and activity can provide patient-generated data to explore ideal levels of sleep and activity to promote recovery after hospital discharge.
ObjectiveThis study aimed to examine the relationship between daily sleep and physical activity with 6 patient-reported functional outcomes (symptom burden, sleep quality, physical health, life space mobility, activities of daily living, and instrumental activities of daily living) at 13 weeks after hospital discharge.
MethodsThis secondary analysis sought to examine the relationship between daily sleep, physical activity, and patient-reported outcomes at 13 weeks after hospital discharge. We utilized wearable sleep and activity trackers (Withings Activité wristwatch) to collect data on sleep and activity. We performed descriptive analysis of device-recorded sleep (minutes/night) with patient-reported sleep and device-recorded activity (steps/day) for the entire sample with full data to explore trends. Based on these trends, we performed additional analyses for a subgroup of patients who slept 7-9 hours/night on average. Differences in patient-reported functional outcomes at 13 weeks following hospital discharge were examined using a multivariate linear regression model for this subgroup.
ResultsFor the full sample of 120 participants, we observed a “T-shaped” distribution between device-reported physical activity (steps/day) and sleep (patient-reported quality or device-recorded minutes/night) with lowest physical activity among those who slept 9 hours/night. We also performed a subgroup analysis (n=60) of participants that averaged the recommended 7-9 hours of sleep/night over the 13-week study period. Our key finding was that participants who had both adequate sleep (7-9 hours/night) and activity (>5000 steps/day) had better functional outcomes at 13 weeks after hospital discharge. Participants with adequate sleep but less activity (<5000 steps/day) had significantly worse symptom burden (z-score 0.93, 95% CI 0.3 to 1.5; P=.02), community mobility (z-score –0.77, 95% CI –1.3 to –0.15; P=.02), and perceived physical health (z-score –0.73, 95% CI –1.3 to –0.13; P=.003), compared with those who were more physically active (≥5000 steps/day).
ConclusionsParticipants within the “sweet spot” that balances recommended sleep (7-9 hours/night) and physical activity (>5000 steps/day) reported better functional outcomes after 13 weeks compared with participants outside the “sweet spot.” Wearable sleep and activity trackers may provide opportunities to hone postdischarge monitoring and target a “sweet spot” of recommended levels for both sleep and activity needed for optimal recovery.
Trial RegistrationClinicalTrials.gov NCT03321279; https://clinicaltrials.gov/ct2/show/NCT0332127
An exploratory analysis of the self-reported goals of individuals with chronic upper-extremity paresis following stroke
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated
Counternarratives of Curriculum in Schools, Neighborhoods, and Communities in the South
In this interactive curriculum dialogue symposium, a group of multiethnic practitioner researchers explore diverse forms of curriculum inquiry (e.g., oral history, fiction, graphic novels, documentary novels, memoire, poetry, comics, etc.) to dive into the life of schools, neighborhoods, and communities in the U. S. South. We particularly focus on the power of counternarratives to contest metanarratives that often portray the South as backward, deficient, and inferior. We explore how critical theory, Black feminist thought, womanism, Black protest thought, Black liberation theology, critical race theory, critical race currere, multiracial or mixed race theory, and indigenous or decolonizing theories empower us to tell silenced and neglected stories of repressions, suppressions, and subjugations that challenge stereotypes of Southern women, Blacks, and other disenfranchised individuals and groups and to examine the forces of slavery, racism, sexism, classism, religious repression, and other forms of oppression and suppression on the life and curriculum in schools, neighborhoods, and communities in the South. The major purpose of this presentation is to share experience of developing diverse forms of curriculum inquiry and to recognize the importance of, and ways of engaging in such a wide array of forms to embody a particular stance in relation to integrity, beauty, humanity, and freedom, to move beyond traditions and boundaries, and to embed inquiry in school, neighborhood, and community life to transform research into positive social and educational change. This is a continuation of dialogue on curriculum in the South
Assessing fear in patients with cervical pain: Development and validation of the Pictorial Fear of Activity Scale-Cervical (PFActS-C)
Counternarratives of Curriculum in Schools, Neighborhoods, and Communities in the South
Presentation given at the Curriculum Studies Summer Collaborative Conference.
In this interactive curriculum dialogue symposium, a group of multiethnic practitioner researchers explore diverse forms of curriculum inquiry (e.g., oral history, fiction, graphic novels, documentary novels, memoire, poetry, comics, etc.) to dive into the life of schools, neighborhoods, and communities in the U. S. South. We particularly focus on the power of counternarratives to contest metanarratives that often portray the South as backward, deficient, and inferior. We explore how critical theory, Black feminist thought, womanism, Black protest thought, Black liberation theology, critical race theory, critical race currere, multiracial or mixed race theory, and indigenous or decolonizing theories empower us to tell silenced and neglected stories of repressions, suppressions, and subjugations that challenge stereotypes of Southern women, Blacks, and other disenfranchised individuals and groups and to examine the forces of slavery, racism, sexism, classism, religious repression, and other forms of oppression and suppression on the life and curriculum in schools, neighborhoods, and communities in the South. The major purpose of this presentation is to share experience of developing diverse forms of curriculum inquiry and to recognize the importance of, and ways of engaging in such a wide array of forms to embody a particular stance in relation to integrity, beauty, humanity, and freedom, to move beyond traditions and boundaries, and to embed inquiry in school, neighborhood, and community life to transform research into positive social and educational change. This is a continuation of dialogue on curriculum in the South