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1.
G3 (Bethesda) ; 12(8)2022 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-35736367

RESUMO

To discover genes implicated in human congenital disorders, we performed ENU mutagenesis in the mouse and screened for mutations affecting embryonic development. In this work, we report defects of heart development in mice homozygous for a mutation of coactivator-associated arginine methyltransferase 1 (Carm1). While Carm1 has been extensively studied, it has never been previously associated with a role in heart development. Phenotype analysis combining histology and microcomputed tomography imaging shows a range of cardiac defects. Most notably, many affected midgestation embryos appear to have cardiac rupture and hemorrhaging in the thorax. Mice that survive to late gestation show a variety of cardiac defects, including ventricular septal defects, double outlet right ventricle, and persistent truncus arteriosus. Transcriptome analyses of the mutant embryos by mRNA-seq reveal the perturbation of several genes involved in cardiac morphogenesis and muscle development and function. In addition, we observe the mislocalization of cardiac neural crest cells at E12.5 in the outflow tract. The cardiac phenotype of Carm1 mutant embryos is similar to that of Pax3 null mutants, and PAX3 is a putative target of CARM1. However, our analysis does not support the hypothesis that developmental defects in Carm1 mutant embryos are primarily due to a functional defect of PAX3.


Assuntos
Fatores de Transcrição Box Pareados , Animais , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Camundongos , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados/genética , Gravidez , Proteína-Arginina N-Metiltransferases , Microtomografia por Raio-X
2.
Occup Ther Int ; 2021: 1698683, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34803547

RESUMO

PURPOSE: Interaction and observation are critical skills for occupational therapists who work with pediatric clients. The objective of this study was to investigate whether using standardized child patients within a situated simulation-based (SSB) program increases students' knowledge and clinical skills when working with children in occupational therapy. MATERIALS AND METHODS: This controlled trial with multiple measures recruited students from the pediatric occupational therapy curriculum enrolled in an SSB program in consecutive academic years (n = 62). Experimental group students participated in a simulation experience with video training sessions, followed by an SSB exam with standardized child patients; the control group performed the video training simultaneously. Quantitative outcomes included quizzes to measure clinical knowledge, video training scores, and a situated simulation exam to assess clinical skills. RESULTS: The experimental group had a significantly higher postwritten quiz scores than the control group; the video training scores were not significantly different between groups. Linear regression analysis showed a significant association between the SSB exam and postwritten quiz scores (ß = 0.487, p = 0.017). The experimental group had a total pass rate of 65.6% for the SSB exam. The communication and interaction pass rate was 53.1%; the basic evaluation rate was 68.8%, implying that communication/interaction skills are hard to simulate from video training alone; therefore, the authentic fidelity of the SSB program needs to improve further to enhance learning. CONCLUSIONS: The SSB program with standardized child patients improved students' clinical knowledge and skills more than lectures and practice alone. Using standardized child patients in programs or exams appears to positively influence students' performance. Situated simulation-based learning that allows the realistic practice of observation and communication skills may enhance students' clinical competency. Future research should develop standard training methods and evaluation processes in high-fidelity simulations for generalized use in other occupational therapy programs.


Assuntos
Terapia Ocupacional , Criança , Competência Clínica , Currículo , Humanos , Aprendizagem , Estudantes
3.
Dis Model Mech ; 12(6)2019 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-31101663

RESUMO

In a screen for organogenesis defects in N-ethyl-N-nitrosourea (ENU)-induced mutant mice, we discovered a line carrying a mutation in Colgalt1 [collagen beta(1-O)galactosyltransferase type 1], which is required for proper galactosylation of hydroxylysine residues in a number of collagens. Colgalt1 mutant embryos have not been previously characterized; here, we show that they exhibit skeletal and muscular defects. Analysis of mutant-derived embryonic fibroblasts reveals that COLGALT1 acts on collagen IV and VI, and, while collagen VI appears stable and its secretion is not affected, collagen IV accumulates inside of cells and within the extracellular matrix, possibly due to instability and increased degradation. We also generated mutant zebrafish that do not express the duplicated orthologs of mammalian Colgalt1 The double-homozygote mutants have muscle defects; they are viable through the larvae stage but do not survive to 10 days post-fertilization. We hypothesize that the Colgalt1 mutant could serve as a model of a human connective tissue disorder and/or congenital muscular dystrophy or myopathy.


Assuntos
Colágeno/metabolismo , Galactosiltransferases/deficiência , Mutação com Perda de Função/genética , Sistema Musculoesquelético/patologia , Processamento de Proteína Pós-Traducional , Proteínas de Peixe-Zebra/metabolismo , Alelos , Animais , Embrião de Mamíferos/patologia , Matriz Extracelular/metabolismo , Fibroblastos/metabolismo , Fibroblastos/patologia , Galactosiltransferases/metabolismo , Glicosilação , Camundongos , Peso Molecular , Músculos/metabolismo , Músculos/patologia , Mutação de Sentido Incorreto/genética , Fenótipo , Pele/metabolismo , Pele/patologia , Peixe-Zebra
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