In this book, Ashley Lear examines the relationship between two pioneers of American literature who broke the mold for women writers of their time. Pulitzer Prize–winning novelists Marjorie Kinnan ...Rawlings and Ellen Glasgow had divergent careers in different locations, Rawlings in backcountry Florida and Glasgow in urban Virginia, yet their correspondence on life and writing reveals one of the great literary friendships of the South. Rawlings felt such admiration for Glasgow that she spent the last year of her life compiling materials for Glasgow’s biography, a work she never completed. Lear draws on the documents Rawlings collected about Glasgow, Rawlings’s personal notes, and letters between the two writers to describe the experiences that brought them together. Lear shows that Rawlings and Glasgow shared a love of nature and social activism, had complex relationships with their parents and siblings, and prioritized their professional lives over romantic attachments. They were both classified as writers of regional works and juvenilia by critics, and Lear traces their discussions about how to respond to the opinions of book reviewers. Both were also forced to confront a new, quickly modernizing America, which at times clashed with their traditional values and naturalistic lifestyles. This is a fascinating portrait of a friendship that sustained two women writers in a time of social upheaval and changing norms in the American South.
Despite increasing attention to the potential benefits of infusing computational thinking into content area classrooms, more research is needed to examine how teachers integrate disciplinary content ...and CT as part of their pedagogical practices. This study traces how middle and high school teachers (n = 24) drew on their existing knowledge and their experiences in a STEM professional development program to infuse CT into their teaching. Our work is grounded in theories of TPACK and TPACK-CT, which leverage teachers' knowledge of technology for computational thinking (CT), CT as a disciplinary pedagogical practice, and STEM content knowledge. Findings identify three key pedagogical supports that teachers utilized and transformed as they taught CT-infused lessons (articulating a key purpose for CT infusion, scaffolding, and collaborative contexts), as well as barriers that caused teachers to adapt or abandon their lessons. Implications include suggestions for future research on CT infusion into secondary classrooms, as well as broader recommendations to support teachers in applying STEM professional development content to classroom practice.
Objectives: In this study we evaluated 40, top recommended, laparoscopic appendectomy and laparoscopic cholecystectomy videos located on public domain websites using eight criteria created by a panel ...of third year medical students and general surgeons. We hypothesized that there is a lack of quality, thorough educational laparoscopic surgical videos appropriate for third year medical students to review in preparation for the Surgery rotation.
Methods: Utilizing a panel, which included four third year medical students and two general surgeons, we created an 'ideal medical student educational video checklist.' This checklist included 8 vital criteria. We selected 40, top recommended, videos available on YouTube and Google Video search engines, using 'laparoscopic cholecystectomy' and 'laparoscopic appendectomy' as key terms. Each video was evaluated by four third year medical students individually, using a binary system 'meets' or 'does not meet' each criterion. Individual scores were averaged, producing a single score for each video.
Results: 0/40 (0%) of the videos met all eight of the criteria. 26/40 (65%) of the videos did not meet half of the criteria. The top performing videos 7/40 (17%) only met 5/8 criteria. Conclusions: We identified a lack of quality and thorough educational surgical videos appropriate for third year medical students and a need for improved online video based instruction. Our checklist can be utilized as a guide for anyone creating surgical videos for medical student education in the future.
We report the case of a 19-month-old girl with late-onset ornithine transcarbamylase (OTC) deficiency initially referred to gastroenterology for intermittent vomiting lasting a year and abnormal ...liver enzymes (AST 730 U/L reference range 26-55 U/L; ALT 1213 U/L reference range 11-30 U/L) without hepatomegaly. While the patient was hospitalized for liver biopsy, intermittent tremors of the upper extremities with varying severity were noted. The patient was presumed to have hyperammonemia secondary to acute liver failure and was discharged after 5 days; follow-up monitoring led to readmission 7 days later. A brain MRI showed nonspecific bilateral pericallosal and bifrontal white matter FLAIR hyperintensities. These findings raised suspicion for a metabolic disease and prompted a genetics consultation. After inconclusive biochemical testing and worsening clinical status, rapid whole genome sequencing results were obtained identifying a novel,
, likely pathogenic, variant c.608C > T (p.Ser203Phe) in the
gene. The patient was promptly started on an oral nitrogen scavenger, citrulline supplementation, and protein restriction. Ammonia and glutamine levels normalized within 1 month of treatment and have stayed within the goal ranges with continued tailoring of treatment. Her parents noted resolution of vomiting and improved mood stability. Liver enzymes normalized after 2 months of treatment. The tremor, identified as asterixis, improved and a repeat brain MRI 3 months after the initial imaging showed near-complete resolution of previous white matter hyperintensities.
NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams‐Oliver syndrome, and ...cardiovascular defects. We describe 7 unrelated patients grouped by the presence of leukoencephalopathy with calcifications and heterozygous de novo gain‐of‐function variants in NOTCH1. Immunologic profiling showed upregulated CSF IP‐10, a cytokine secreted downstream of NOTCH1 signaling. Autopsy revealed extensive leukoencephalopathy and microangiopathy with vascular calcifications. This evidence implicates that heterozygous gain‐of‐function variants in NOTCH1 lead to a chronic central nervous system (CNS) inflammatory response resulting in a calcifying microangiopathy with leukoencephalopathy. ANN NEUROL 2022;92:895–901
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss‐of‐function NONO variants have been associated with syndromic intellectual disability and with left ventricular ...noncompaction (LVNC). A two‐year‐old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Brain MRI showed a thick corpus callosum, mild Chiari I malformation, and a flattened pituitary. Exome sequencing identified a novel intronic deletion (c.154+5_154+6delGT) in the NONO gene. Splicing studies demonstrated intron 4 read‐through and the use of an alternative donor causing the frameshift p.Asn52Serfs*6. Family segregation analysis showed that the variant occurred de novo in the boy's unaffected mother. MRI and endocrine findings suggest that hypopituitarism may contribute to growth failure, abnormal thyroid hormone levels, cryptorchidism, or delayed puberty in patients with NONO‐associated disease. Also, including this case LVNC has been observed in five out of eight patients, and this report also confirms an association between loss of NONO and Ebstein anomaly. In some cases, unrelated individuals share the same pathogenic NONO variants but do not all have clinically significant LVNC, suggesting that additional modifiers may contribute to cardiac phenotypes.
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is ...undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly complex or uncertain genomic findings. Here, we present gene.iobio, a real-time, intuitive and interactive web application for clinically-driven variant interrogation and prioritization. We show gene.iobio is a novel and effective approach that significantly improves upon and reimagines existing methods. In a radical departure from existing methods that present variants and genomic data in text and table formats, gene.iobio provides an interactive, intuitive and visually-driven analysis environment. We demonstrate that adoption of gene.iobio in clinical and research settings empowers clinical care providers to interact directly with patient genomic data both for establishing clinical diagnoses and informing patient care, using sophisticated genomic analyses that previously were only accessible via complex command line tools.
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