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Effective assessment practice requires clearly defining and operationalizing terminology. We illustrate the importance of this practice by focusing on academic "undermatching"--when students enroll in colleges that are less academically selective than those for which they are academically prepared. Undermatching has been viewed as a potential obstacle in the United States' goal of increasing degree attainment but operationalizing undermatching is difficult. Using ELS: 2002, a national dataset from the U.S. Department of Education National Center for Education Statistics (NCES, 2014), we developed eight operationalizations of undermatching by altering three commonly used variables. We then compared the number and demographics of students who were identified as undermatched. Differences in operationalizations resulted in significant differences in undermatching by gender, race, parental education, and socioeconomic status. Results of this study illustrate the importance of the need to operationalize terminology used in assessment carefully and consistently.

A responsive case study evaluation approach utilizing interviews and focus groups collected student and faculty perspectives on examined how instructors and students utilized a newly redesigned active learning space at Iowa State University and the relationship of this design with environmental and behavioral factors of student engagement. The findings demonstrate how classroom design affords engagement through low-cost learning tools and a flexible, open, student-centered space afforded a variety of active learning strategies. In addition, this case study highlights the importance of conducting assessment on classroom redesign initiatives to justify and improve future classroom spaces.

BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SMCHD1 while in BAMS, pathogenic variants are restricted to the extended ATPase domain. Irrespective of the phenotypic outcome, both FSHD2-associated and BAMS-associated SMCHD1 variants result in quantifiable local DNA hypomethylation. We compared FSHD2, BAMS and non-pathogenic SMCHD1 variants to derive genotype-phenotype relationships. METHODS: Examination of SMCHD1 variants and methylation of the SMCHD1-sensitive FSHD locus DUX4 in 187 FSHD2 families, 41 patients with BAMS and in control individuals. Analysis of variants in a three-dimensional model of the ATPase domain of SMCHD1. RESULTS: DUX4 methylation analysis is essential to establish pathogenicity of SMCHD1 variants. Although the FSHD2 mutation spectrum includes all types of variants covering the entire SMCHD1 locus, missense variants are significantly enriched in the extended ATPase domain. Identification of recurrent variants suggests disease-specific residues for FSHD2 and in BAMS, consistent with a largely disease-specific localisation of variants in SMCHD1. CONCLUSIONS: The localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.

BackgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SMCHD1 while in BAMS, pathogenic variants are restricted to the extended ATPase domain. Irrespective of the phenotypic outcome, both FSHD2-associated and BAMS-associated SMCHD1 variants result in quantifiable local DNA hypomethylation. We compared FSHD2, BAMS and non-pathogenic SMCHD1 variants to derive genotype-phenotype relationships.MethodsExamination of SMCHD1 variants and methylation of the SMCHD1-sensitive FSHD locus DUX4 in 187 FSHD2 families, 41 patients with BAMS and in control individuals. Analysis of variants in a three-dimensional model of the ATPase domain of SMCHD1.ResultsDUX4 methylation analysis is essential to establish pathogenicity of SMCHD1 variants. Although the FSHD2 mutation spectrum includes all types of variants covering the entire SMCHD1 locus, missense variants are significantly enriched in the extended ATPase domain. Identification of recurrent variants suggests disease-specific residues for FSHD2 and in BAMS, consistent with a largely disease-specific localisation of variants in SMCHD1.ConclusionsThe localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.

The protection of the Brazilian Amazon is essential to prevent the collapse of global biodiversity and minimize the negative impacts of climate change worldwide. However, there is currently no estimate of how much it costs to conserve most of this region. We report that maintaining ∼80% (3.5 million km2) of the region within conservation areas (conservation units and indigenous lands) would minimally cost around USD 1.7–2.8 billion a year in recurrent management and system-wide costs, plus an upfront investment of USD 1.0-1.6 billion for establishment costs. Building a sustainable and definitive conservation system to maintain the socioecological integrity of the world's most biodiverse region is still possible, but the window of opportunity to achieve one of the most significant conservation accomplishments in the history of humanity can be closed soon and – given the declining resilience of the region’s ecosystems – forever.

ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on cognition, and we assumed that there is a direct correlation between the continuous spectrum of specific learning and attention deficits to the number of CGG repeats on the FMR1 gene.MethodsA total of 108 women were referred to our center due to a related Fragile X syndrome (FXS) patient, 79 women carried a premutation of 56–199 repeats, and 19 women carried a full mutation of more than 200 CGG repeats on FMR1 gene. Genetic results of CGG repeats, demographic information, structured questionnaires for ADHD, learning disabilities of language and mathematics, and independence level were analyzed in women carrying the FMR1 premutation and compared to the group carrying the full mutation. Women with FXS and FXTAS were excluded.ResultsWhen analyzed as a continuum, there was a significant increase in the following complaints which were associated with a higher number of repeats: specific daily function skills such as driving a car, writing checks, disorientation in directions, and also specific learning difficulties such as spelling and math difficulties. Additionally, when tested as a categorical independent variable, we observe that women with the full mutation were more likely to have ADHD or other learning disability diagnoses in the past than during premutation (

IntroductionWhile in the CASTLE-AF trial, in patients with atrial fibrillation and heart failure with reduced ejection fraction, interventional therapy using pulmonary vein isolation was associated with outcome improvement, data on cavotricuspid isthmus ablation (CTIA) in atrial flutter (AFL) in the elderly is rare.MethodsWe included 96 patients between 60 and 85 years with typical AFL and heart failure with reduced or mildly reduced ejection fraction (HFrEF/HFmrEF) treated in two medical centers. 48 patients underwent an electrophysiological study with CTIA, whereas 48 patients received rate or rhythm control and guideline-compliant heart failure therapy. Patients were followed up for 2 years, with emphasis on left ventricular ejection fraction (LVEF) over time. Primary endpoints were cardiovascular mortality and hospitalization for cardiac causes.ResultsPatients with CTIA showed a significant increase in LVEF after 1 (p

The axolotl, known for its remarkable regenerative abilities, is an excellent model for studying regenerative therapies. Nevertheless, the precise molecular mechanisms governing its regenerative potential remain uncertain. In this study, we collected samples from axolotls of different ages, including 8‐year‐old individuals and 8‐month‐old juveniles, obtaining their blastemas 10 days after amputation. Subsequently, we conducted a transcriptomic analysis comparing our samples to a set of previously published experiments. Our analysis unveiled a distinctive transcriptional response in the blastema, characterized by differential gene expression associated with processes such as bone and tissue remodeling, transcriptional regulation, angiogenesis, and intercellular communication. To gain deeper insights, we compared these findings with those from aged axolotls that showed no signs of regeneration 10 days after amputation. We identified four genes—FSTL1, ADAMTS17, GPX7, and CTHRC1—that showed higher expression in regenerating tissue compared to aged axolotls. Further scrutiny, including structural and homology analysis, revealed that these genes are conserved across vertebrate species. Our discoveries point to a group of proteins relevant to tissue regeneration, with their conservation in vertebrates suggesting critical roles in development. These findings also propose a novel gene set involved in axolotl regeneration, laying a promising foundation for future investigations across vertebrates. [ABSTRACT FROM AUTHOR]

Background: Positive surgical margin rates remain high in head and neck cancer surgery. Relocation is challenging given the complex, three‐dimensional (3D) anatomy. Methods: Prospective, multi‐institutional study to determine accuracy of head and neck surgeons and pathologists relocating margins on virtual 3D specimen models using written descriptions from pathology reports. Using 3D models of 10 head and neck surgical specimens, each participant relocated 20 mucosal margins (10 perpendicular, 10 shave). Results: A total of 32 participants, 23 surgeons and 9 pathologists, marked 640 margins. Of the 320 marked perpendicular margins, 49.7% were greater than 1 centimeter from the true margin with a mean relocation error of 10.2 mm. Marked shave margins overlapped with the true margin a mean 54% of the time, with no overlap in 44 of 320 (13.8%) shave margins. Conclusions: Surgical margin relocation is imprecise and challenging even for experienced surgeons and pathologists. New communication technologies are needed. [ABSTRACT FROM AUTHOR]

Objective: Identify the proportion of patients undergoing elective neck dissection (END) in surgically managed supraglottic squamous cell carcinoma (SCCa), assess associations between patient, tumor, and treatment factors with END, and assess associations between neck management and overall survival (OS). Study Design: Retrospective study. Setting: National Cancer Database (NCDB) 2019 Participant User File. Methods: Patients with previously untreated, clinically node‐negative (cN0) supraglottic SCCa treated with partial laryngectomy were queried from NCDB. Patients without known neck management and who underwent total laryngectomy were excluded. Patient and tumor factors associated with END were evaluated by logistic regression analysis. Univariable Cox proportional hazard analysis was used to examine associations between patient factors and OS, and factors with P <.05 were included on multivariable analysis. Results: A total of 1352 patients met eligibility criteria. Eight hundred eleven (60%) patients had END performed with occult nodal metastasis identified in 177 (22%) patients. END was more likely to be performed at academic centers than nonacademic centers (odds ratio: [1.66], 95% confidence interval [CI]: 1.32‐2.09, P <.001). On multivariable analysis, patients who underwent adjuvant radiation had worse OS (hazard ratio [HR]: 1.45, 95% CI: 1.13‐3.29, P =.017). END was associated with improved OS overall on univariable analysis (HR: 0.83, 95% CI: 0.69‐0.98, P =.026), but not on multivariable analysis. Conclusion: In this NCDB study, 22% of cN0 supraglottic SCCa patients had occult nodal metastatic disease. Despite this, 40% of patients do not receive END at the time of primary resection. Patients who receive END for supraglottic SCCa are more likely to avoid adjuvant radiation without impacting OS. [ABSTRACT FROM AUTHOR]

Background Weakness of facial, ocular and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and function resulting in disturbed excitation- contraction coupling and Ca2+ homeostasis can contribute to disease pathology. Methods We analysed exome and genome sequencing data from four unrelated individuals with congenital myopathy characterised by facial, ocular and bulbar involvement. We collected deep phenotypic data from the affected individuals. We analysed the RNAsequencing (RNA- seq) data of F3- II.1 and performed gene expression outlier analysis in 129 samples. Results The four probands had a remarkably similar clinical presentation with prominent facial, ocular and bulbar features. Disease onset was in the neonatal period with hypotonia, poor feeding, cleft palate and talipes. Muscle weakness was generalised but prominent in the lower limbs with facial weakness also present. All patients had myopathic facies, bilateral ptosis, ophthalmoplegia and fatigability. Muscle biopsy on light microscopy showed type 1 myofiber predominance and ultrastructural analysis revealed slightly reduced triads, and structurally abnormal sarcoplasmic reticulum. DNA sequencing identified four unique homozygous loss- of- function variants in JPH1, encoding junctophilin- 1 in the four families; one stop- gain (c.354C>A;p.Tyr118*) and three frameshift (c.373delG;p.Asp125Thrfs*30, c.1738delC;p.Leu580Trpfs*16 and c.1510delG;p. Glu504Serfs*3) variants. Muscle RNA- seq showed strong downregulation of JPH1 in the F3 proband. Conclusions Junctophilin- 1 is critical for the formation of skeletal muscle triad junctions by connecting the sarcoplasmic reticulum and T- tubules. Our findings suggest that loss of JPH1 results in a congenital myopathy with prominent facial, bulbar and ocular involvement. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis‐like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals with monoallelic stop loss variants affecting the same codon of HNRNPA1. Methods: Two individuals with unsolved juvenile‐onset myopathy were enrolled under approved institutional protocols. Phenotype data were collected and genetic analyses were performed, including whole‐exome sequencing (WES). Results: The two probands (MNOT002‐01 and K1440‐01) showed a similar onset of slowly progressive extremity and facial weakness in early adolescence. K1440‐01 presented with facial weakness, winged scapula, elevated serum creatine kinase (CK) levels, and mild neck weakness. MNOT002‐01 also exhibited elevated CK levels along with facial weakness, cardiomyopathy, respiratory dysfunction, pectus excavatum, a mildly rigid spine, and loss of ambulation. On quadriceps muscle biopsy, K1440‐01 displayed rounded myofibers, mild variation in fiber diameter, and type 2 fiber hypertrophy, while MNOT002‐01 displayed rimmed vacuoles. Monoallelic stop‐loss variants in HNRNPA1 were identified for both probands: c.1119A>C p.*373Tyrext*6 (K1440‐01) and c.1118A>C p.*373Serext*6 (MNOT002‐01) affect the same codon and are both predicted to lead to the addition of six amino acids before termination at an alternative stop codon. Discussion: Both stop‐loss variants in our probands are likely pathogenic. Our findings contribute to the disease characterization of pathogenic variants in HNRNPA1. This gene should be screened in clinical diagnostic testing of unsolved cases of sporadic or dominant juvenile‐onset myopathy. [ABSTRACT FROM AUTHOR]

The increasing number of students with disabilities enrolling in postsecondary education, and the variety of these disabilities, challenges higher education institutions to meet the unique needs of these students. Academic coaching has been found to be effective in enhancing student success and is one approach that can help meet the needs of students with disabilities. This paper describes an academic coaching model for students with disabilities, discusses the theoretical foundations on which the model was developed, and summarizes the results of an assessment of the program.

Academic undermatching--students enrolling in colleges that are less academically selective than those for which they qualify--is a barrier hindering college degree attainment. Given the many reasons students undermatch, this phenomenon is likely to continue; yet, we know little about the characteristics that may be related to degree attainment for this population of students. Utilizing the ELS: 2002 national dataset, we developed an operationalization of undermatch and then applied this operationalization to the BPS: 04/09 national dataset (N = 11,260). Using logistic regression methods, we identified institutional and student characteristics that are associated with degree attainment for undermatched students. Starting at a 4-year institution, completing at least precalculus, having at least one parent with a college education, being female, and being socially and academically integrated into the institution were positively associated with degree attainment. Our results emphasize the critical influence of nonacademic factors on degree attainment for undermatched students.

Background/Context: Studio-based courses--the primary approach in design education--have been viewed as effective environments for learning. This study uses an ecological approach to explore how the studio environment creates opportunities for social interaction through immersive studies of studio learning. Purpose/Objective/Research Question/Focus of Study: We engaged in an ethnographic case study of a beginning architecture design course aimed at exploring the ways the learning environment of the studio affords social interaction, and how these interactions shape students' understandings and behaviors as they learn. Particular attention was paid to the physical, structural, and instructional affordances that contribute to learning in the studio environment. Setting: Over the course of one semester, we observed nine students and their instructor in Architecture Design 1 (AD 1), a first-year architecture studio at a large, public research institution. Population/Participants/Subjects: The student participants ranged in age from 18 to 25, four of the participants identified as students of color, two identified as international students, three identified as female, and six, male. The instructor, who identifies as female, had taught AD 1 at the university for eight years prior to the study and holds a master's degree in architecture. Research Design: We engaged in an ethnographic case study using an ecological approach, focused on the relationship between humans and their environment. We view learning and knowledge as individually constructed by the learner in a socially situated, public context; as such, a case study design using ethnographic methods of data collection was employed. Data Collection and Analysis: Our data sources included observations of daily studio activities, participant interviews, researcher reflections on studio visits, and course artifacts such as the course syllabus and assignment handouts. We analyzed data using a two-cycle method of coding and analysis focusing on identifying patterns or themes in the data. Findings/Results: We found several physical, structural, and instructional affordances that contribute to learning. The physical affordances of the studio environment of AD 1 included the open layout, public/private workspaces, and co-working in proximity to others. The structural affordances were long blocks of unscheduled work time, the project brief, and the sequencing of the projects, tasks, and deadlines. The instructional affordances included formal and informal critique, "mini-lectures," and demonstrations. Conclusions/Recommendations: Although focused within a design discipline, our findings have broader applicability to collegiate academic environments that support student learning. Recommendations include creating fluidity in the classroom space, centralizing feedback, demonstrating emerging understandings visually, and constraining constructivist learning environments.

Structured light three-dimensional (3D) scanning is a ubiquitous mainstay of object inspection and quality control in industrial manufacturing, and has recently been integrated into various medical disciplines. Photorealistic 3D scans can readily be acquired from fresh or formalin-fixed tissue and have potential for use within anatomic pathology (AP) in a variety of scenarios, ranging from direct clinical care to documentation and education. Methods for scanning and post-processing of fresh surgical specimens rely on relatively low-cost and technically simple procedures. Here, we demonstrate potential use of 3D scanning in surgical pathology in the form of a mixed media pathology report with a novel post-scan virtual inking and marking technique to precisely demarcate areas of tissue sectioning and details of final tumor and margin status. We display a sample mixed-media pathology report (3D specimen map) which integrates 3D and conventional pathology reporting methods. Finally, we describe the potential utility of 3D specimen modeling in both didactic and experiential teaching of gross pathology lab procedures.

Fostering a sense of belonging for students has long been considered a crucial component of retention and success for colleges and universities. However, there is no universal definition of what "belonging" actually is. In College Belonging: How First-Year and First-Generation Students Navitage Campus Life, Lisa M. Nunn (2021) delves into what it means for college students "to belong." Through student interviews during their first two years of college, Nunn explores how students define and experience belonging; in doing so, creating a new perspective on what belonging is and how students achieve (or are gifted) belonging.