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For this qualitative case study we explored students' perceptions of institutional support and sense of belonging within the college environment. Following 10 low-income, first-generation college students out of a college access program and through their first year of college, we examined institutional support structures that have been reported to increase students' sense of academic and social belonging, including comprehensive scholarship programs, social identity-based centers and student organizations, residence hall communities, faculty relationships, academic support services, and high-impact educational experiences. In spite of the positive and stabilizing potential of these support structures, several of them simultaneously undermined students' sense of belonging.

To address the persistent failure of schooling to support underserved students, youth participatory action research (YPAR) has emerged as an alternative and critical paradigm for educational practice. YPAR re-centers authority on marginalized voices and understands research as a tool for social change. Grounded in critical pedagogy, such projects enable students to collaboratively critique oppressive structures and envision more equitable possibilities. In this article, the authors analyze a YPAR project on educational inequities conducted with high school students in a college access program. Through case study analysis of in-depth interviews with studentresearchers and participant observation of the research process, the article suggests that the YPAR model moves students towards praxis by helping them develop more authoritative voices, renegotiate identity as part of a social process of belonging, and begin to envision their roles in creating a more just world. We argue that the tensions inherent in critical pedagogical processes like that of YPAR present fruitful challenges for continuing reflection on working both within and against existing educational systems.

What Is Youth Participatory Action Research (ypar)? ypar is research that \"provides young people with opportunities to study social problems affecting their lives and then determine actions to rectify these problems\" (Cammarota and Fine 2008: 2). Because ypar's goals include youth development and education, the paradigm- or as Nygreen (2009-10) calls it, the \"tactic\"-focuses specifically on critical pedagogies rooted in Paulo Freire's work on praxis:-critical reflection and action (Cammarota and Fine 2008; Freire [1970] 2002). Young people have created a Youth Bill of Rights (Ginwright 2008), written books about educational inequity (Torre and Fine et al. 2008), developed a youth-to-youth guide to the ged (Tuck et al. 2008), participated in community talking tours (Tuck et al. 2008), given presentations to school boards about school closures (Kirshner 2010), and co-published academic articles about immigrant student experience (Nygreen 2009-10), among other projects.

Although schools have often served as agents of cultural assimilation, they have also been sites of contestation and transformative change. Despite an increasingly substantial body of literature that addresses the need for teacher transformation, particularly among white teachers, there has been little focus on the process and implications of concientization within specific settings. This dissertation chronicles a participatory, ethnographic study of the lived experience of one English Language Arts teacher dedicated to the more equitable transformation of self and school. Spanning interactions from 2003--2006, but concentrating primarily on her work as the only English teacher in a new program, it details her attempt to redefine practice in more critical and culturally relevant ways and explores the impact of such work on teacher identity. In particular, the emic tropes of the Good Teacher and the Better Student are explored as problematic identity constructions with crucial consequences for teacher-student relationships and pedagogical decisions. Sustained by stratified classrooms and defining achievement in limited ways, they oversimplify the complex set of interactions that necessarily comprise teaching and learning. This study offers a window on transformative practice in process---its inception, its challenges, and its ultimate impact on teacher identity. Specifically, it includes an examination of (1) a teacher's work in two separate school systems---a traditional, comprehensive, suburban high school serving a largely white population, and an alternative, urban Middle College program serving mostly students of color; (2) the power and problems arising from authentic care-oriented classroom relations, and (3) the success and failure of reinvented pedagogical approaches. It argues that, in this case, transformation also creates an identity crisis that simultaneously empowers and destroys, undermining the teacher's sense of self, efficacy, and sustainability even as it inspires her to advocate for marginalized students and to hope for wider social change.

Suicide rates in the United States rose 35.2% from 1999-2018. As emergency department (ED) providers often have limited training in management of suicidal patients and minimal access to mental health experts, clinical practice guidelines (CPGs) may improve care for these patients. However, clinical practice guidelines that do not adhere to quality standards for development may be harmful both to patients, if they promote practices based on flawed evidence, and to ED providers, if used in malpractice claims. In 2011, the Institute of Medicine created standards to determine the trustworthiness of CPGs. This review assessed the adherence of suicide prevention CPGs, intended for the ED, to these standards. Secondary objectives were to assess the association of adherence both with first author/organization specialty (ED vs non-ED) and with inclusion of recommendations on substance use, a potent risk factor for suicide. This is a systematic review of available suicide-prevention CPGs for the ED in both peer-reviewed and gray literature. This review followed the PRISMA standards for reporting systematic reviews. Of 22 included CPGs, the 7 ED-sponsored CPGs had higher adherence to quality standards (3.1 vs 2.4) and included the highest-rated CPG (ICAR2E) identified by this review. Regardless of specialty, nearly all CPGs included some mention of identifying or managing substance use. Most suicide prevention CPGs intended for the ED are written by non-ED first authors or organizations and have low adherence to quality standards. Future CPGs should be developed with more scientific rigor, include a multidisciplinary writing group, and be created by authors working in the practice environment to which the CPG applies.

SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8‐year‐old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup). We demonstrate that L86_M88dup causes a dominant‐negative N‐glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L‐serine.

Background Intellectual developmental disorder with autism and macrocephaly (IDDAM, OMIM #615032) is an autosomal dominant neurodevelopmental disorder characterized primarily by intellectual disability, autism spectrum disorder, macrocephaly, tall stature, gastrointestinal symptoms, and variable neurological manifestations. Most cases result from de novo pathogenic variants in CHD8. Methods We conducted genome sequencing through the Undiagnosed Diseases Network (UDN) in a female proband harboring a CHD8 variant of uncertain significance (VUS), whose clinical presentation was consistent with IDDAM but included atypical features such as ptosis and hearing loss. Variant pathogenicity was further evaluated using EpiSign DNA methylation analysis and structural biology modeling. Results Genome sequencing confirmed the CHD8 variant inherited from her father, who exhibited a subtle feature, including traits consistent with attention‐deficit/hyperactivity disorder. Pathogenicity was confirmed through epigenetic signature testing (EpiSign), demonstrating characteristic methylation patterns and structural biology analysis, predicting significant protein destabilization. Conclusion We describe the case of IDDAM caused by a paternally inherited CHD8 variant. Our findings highlight the importance of considering parental inheritance in IDDAM diagnoses and suggest epigenetic and structural biology analyses as valuable tools for reclassifying VUS when variant pathogenicity remains uncertain. EpiSign (DNA methylation) analysis was performed on a proband and father with a CHD8 missense variant associated with IDDAM. Hierarchical clustering and multidimensional scaling showed that their methylation profiles closely matched individuals with a confirmed IDDAM episignature and were distinct from controls. The elevated MVP score further supported this similarity, indicating alignment with the IDDAM reference cohort.

Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2‐myopathy has also been proposed in a single series. Methods We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant. Results We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. None of the patients have cardiomyopathy or respiratory insufficiency. Notably, all patients report Palestinian ethnicity, suggesting a possible founder ACTN2 variant, which was confirmed through haplotype analysis in two families. Muscle biopsies reveal an underlying myopathic process with disruption of the intermyofibrillar architecture, Type I fiber predominance and atrophy. MRI of the lower extremities demonstrate a distinct pattern of asymmetric muscle involvement with selective involvement of the hamstrings and adductors in the thigh, and anterior tibial group and soleus in the lower leg. Using an in vitro splicing assay, we show that c.1516A>G ACTN2 does not impair normal splicing. Interpretation This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult‐onset progressive muscle disease.

Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant SVs in a 4‐year‐old male with an epileptic encephalopathy of undiagnosed molecular origin. Methods OGM was utilized to image long, megabase‐size DNA molecules, fluorescently labeled at specific sequence motifs throughout the genome with high sensitivity for detection of SVs greater than 500 bp in size. OGM results were confirmed in a CLIA‐certified laboratory via mate‐pair sequencing. Results OGM identified a mosaic, de novo 90 kb deletion and inversion on the X chromosome disrupting the CDKL5 gene. Detection of the mosaic deletion, which had been previously undetected by chromosomal microarray, an infantile epilepsy panel including exon‐level microarray for CDKL5, exome sequencing as well as genome sequencing, resulted in a diagnosis of X‐linked dominant early infantile epileptic encephalopathy‐2. Conclusion OGM affords an effective technology for the detection of SVs, especially those that are mosaic, since these remain difficult to detect with current NGS technologies and with conventional chromosomal microarrays. Further research in undiagnosed populations with OGM is warranted. In a participant with an epileptic encephalopathy of undiagnosed molecular origin, optical genome mapping (OGM), identified a mosaic, de novo 90 kb deletion on the X chromosome disrupting the CDKL5 gene. Detection of the mosaic deletion, which had been previously undetected by chromosomal microarray, an infantile epilepsy panel including exon‐level microarray for CDKL5, exome sequencing as well as genome sequencing, resulted in a diagnosis of X‐linked dominant early infantile epileptic encephalopathy‐2. OGM affords an effective technology for detection of SVs, especially those that are mosaic, since these remain difficult to detect with current NGS technologies and with conventional chromosomal microarrays.