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1.
J Public Health Manag Pract ; 29(5): 735-744, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36996432

RESUMO

OBJECTIVE: To share the experiences of stakeholders in a school district's response to the COVID-19 pandemic, especially related to supporting the district in the reopening process and sharing key decision points, challenges, facilitators, and overall lessons learned that may be applied to future emergencies. DESIGN: A descriptive study of participants' experience that included (1) a content analysis of policy documents and recommendations that were developed and published by key stakeholders and (2) interviews with stakeholders in the school system that were coded to identify patterns and themes. SETTING: Remote interviews conducted over Zoom. Participants live or work in Brookline, Massachusetts. PARTICIPANTS: Fifteen qualitative interviews were conducted with school committee members, principals, members of school leadership, school nurses, school staff, parents, advisory panel members, and physicians collaborating with the school district. MAIN OUTCOME MEASURES: Whether patterns and themes related to challenges, solutions, and recommendations for future management of public health emergencies in the district could be identified. RESULTS: Challenges experienced during a school district's response included staffing burdens, changing scopes of services, the difficulty of successfully enforcing social distancing, addressing staff and family fears, meeting informational needs, and limited resources. Multiple interviewees shared that they felt there should have been a greater emphasis on mental health in the district's response. Successes of the response included the creation and implementation of a consistent communications system, recruiting volunteers and mobilizing the community to address critical needs, and effective technology expansion and usage in schools. CONCLUSIONS: Leadership and community collaboration were essential to the response to the COVID-19 pandemic in addition to strategies used to enhance coordination and communication and relay information across the community.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , Pandemias , Emergências , Recursos Comunitários , Estudantes
2.
Stem Cell Rev Rep ; 19(3): 639-650, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36370261

RESUMO

Copy number variants (CNVs), involving duplication or deletion of susceptible intervals of the human genome, underlie a range of neurodevelopmental and neuropsychiatric disorders. As accessible in vivo animal models of these disorders often cannot be generated, induced pluripotent stem cell (iPSC) models derived from patients carrying these CNVs can reveal alterations of brain development and neuronal function that contribute to these disorders. CNVs involving deletion versus duplication of a particular genomic interval often result both in distinct clinical phenotypes and in differential phenotypic penetrance. This review initially focuses on CNVs at 15q13.3, which contribute to autism spectrum disorder, attention deficit/hyperactivity disorder, and schizophrenia. Like most CNVs, deletions at 15q13.3 usually cause severe clinical phenotypes, while duplications instead result in highly variable penetrance, with some carriers exhibiting no clinical phenotype. Here, we describe cellular and molecular phenotypes seen in iPSC-derived neuronal models of 15q13.3 duplication and deletion, which may contribute both to the differential clinical consequences and phenotypic penetrance. We then relate this work to many other CNVs involving both duplication and deletion, summarizing findings from iPSC studies and their relationship to clinical phenotype. Together, this work highlights how CNVs involving duplication versus deletion can differentially alter neural development and function to contribute to neuropsychiatric disorders. iPSC-derived neuronal models of these disorders can be used both to understand the underlying neurodevelopmental alterations and to develop pharmacological or molecular approaches for phenotypic rescue that may suggest leads for patient intervention. Top: Deletion versus duplication of the same genomic interval results in different clinical phenotypes and degrees of phenotypic penetrance. Example findings schematized. Bottom: iPSC-derived neurons from individuals with these CNVs involving deletion versus duplication likewise often differential phenotypes (increases or decreases) in the categories shown. Figure created with BioRender.com.


Assuntos
Transtorno do Espectro Autista , Células-Tronco Pluripotentes Induzidas , Animais , Humanos , Variações do Número de Cópias de DNA/genética , Transtorno do Espectro Autista/genética , Neurônios , Fenótipo
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