16 research outputs found

    Understanding Interest in Studying IT – “Desire for Change” Among Adult Women

    Get PDF
    Information Systems education has been concerned with student recruitment and diversity. We asked 123 students in an introductory course why they had chosen the Information Technology field. The course provided an opportunity to inquire the motivation of a diverse set of students as the course is open to anyone. We wanted to learn about our students’ backgrounds and whether the answers would differ based on age or gender. The most important themes we found were “interest,” “IT identity,” “potential of the field,” “study opportunities,” “people,” and “desire for change.” We found differences between age and gender groups that can inform inclusion efforts. People referred to recent experiences in their motivation and influences varied in different life stages. Particularly women seemed to develop interest in IT later in life. Our findings point to the significance of having the opportunity to study and the potential of the field, and the problematic online information about the field. Our findings can inform recruitment efforts and highlight potential of different groups of people that may have been overlooked so far

    Molecular alterations in pediatric brainstem gliomas

    Get PDF
    BackgroundDiffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27-mutated diffuse midline gliomas, and whether rare long-term survivors also belong to this group. MethodsWe studied tumor samples obtained at diagnosis or upon autopsy from 23 children, including two long-term survivors. Based on clinical, radiological, and histological findings, all tumors were previously diagnosed as DIPGs. All samples were analyzed for genetic alterations by next-generation sequencing (NGS) and for protein expression by immunohistochemistry (IHC). ResultsH3 K27 was mutated in NGS or IHC in 20 patients, excluding both long-term survivors. One of these long-term survivors harbored a mutation in IDH1, formerly considered to be an alteration absent in pediatric diffuse brainstem gliomas. Other altered genes in NGS included TP53 (10 patients), MET and PDGFRA (3 patients each), VEGFR and SMARCA4 (2 patients each), and PPAR, PTEN and EGFR in 1 patient, respectively. IHC revealed cMYC expression in 15 of 24 (63%) of all samples, exclusively in the biopsies. ConclusionsEighty-seven percent of the tumors formerly diagnosed as DIPGs could be reclassified as H3 K27-mutated diffuse midline gliomas. Both long-term survivors lacked this alteration. Contrary to former conceptions, IDH1 mutations may occur also in pediatric brainstem gliomas.Peer reviewe

    Neonatal Alexander Disease : Novel GFAP Mutation and Comparison to Previously Published Cases

    Get PDF
    Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD. Genetic analysis of the proband identified a novel de novo GFAP missense mutation and a KCNQ2 splice site mutation segregating with the BFNE phenotype in the family. The GFAP mutation was located in the coil 2B region of GFAP protein, similar to most neonatal-onset AxD cases with an early death. The clinical and neuroradiological features of the previously published neonatal AxD patients are presented. This study further supports the classification of neonatal-onset AxD as a distinct phenotype based on the age of onset.Peer reviewe

    Understanding interest in studying IT:“desire for change” among adult women

    No full text
    Abstract Information Systems education has been concerned with student recruitment and diversity. We asked 123 students in an introductory course why they had chosen the Information Technology field. The course provided an opportunity to inquire the motivation of a diverse set of students as the course is open to anyone. We wanted to learn about our students’ backgrounds and whether the answers would differ based on age or gender. The most important themes we found were “interest,” “IT identity,” “potential of the field,” “study opportunities,” “people,” and “desire for change.” We found differences between age and gender groups that can inform inclusion efforts. People referred to recent experiences in their motivation and influences varied in different life stages. Particularly women seemed to develop interest in IT later in life. Our findings point to the significance of having the opportunity to study and the potential of the field, and the problematic online information about the field. Our findings can inform recruitment efforts and highlight potential of different groups of people that may have been overlooked so far
    corecore