Adult chordoid meningioma: a case report

Chordoid meningioma is a rare tumour accounting for less than 0.5% of all meningiomas. It is a WHO grade II tumour with an aggressive behavior. It is a rare variant characterized by cords or trabeculae of eosinophilic or vacuolated cells set in an abundant mucoid matrix. It can be associated with systemic or hematologic manifestations like Castleman disease. The tumor has a propensity for aggressive behavior and increased likelihood of recurrence We report a case of an adult patient with chordoid meningioma who presented with headache and seizures and did not have any hematological/ systemic manifestations. She underwent total excision of the lesion and is doing well

A Stand-Up Guy : Effect of a Sit-to-Stand Modified Ride-on Car on a Child with Down Syndrome

Purpose: The purpose of this study is to determine the feasibility for an infant with Down syndrome to use a modified ride-on car that encourages the physical skills of pulling from sit-to-stand and standing with assistance. Method: An 8 month old boy, Child B, was video recorded during the 11 month study, using his modified sit-to-stand ride-on car. Results: For a majority of the study, Child B demonstrated increased movement, including transitions to standing, increased socialization, and general enjoyment when using the modified ride-on car. Conclusions: The sit-to-stand modified ride-on car is a feasible assistive technology for children with Down syndrome under the age of 1, as it helps keep the child in an upright position and the child enjoys using the car in their daily lives. Key words: mobility, Down syndrome, male, infant, single-subject research design, socialization, ride-on car

Standing Tall: Exploration and play in a novel modified ride-on car

Self-directed mobility is a fundamental human right. Typically developing children engage in mobility for a majority of their day, but children with disabilities do not have the same opportunities. Children with disabilities are at a disadvantage and have a greater risk for developmental delays in physical and cognitive skills, along with decreases in social interactions with peers and adults (Feldner, Logan, & Galloway, 2015). Powered mobility devices, such as motorized wheelchairs, can promote self-directed mobility experiences for children with disabilities. Lynch, Agrawal, and Galloway (2009) validated that powered mobility devices can help children with disabilities as young as six months improve communication, cognitive abilities, as well as motor skills. Unfortunately, there are no commercially available powered mobility devices for children under the age of three (Logan et al., 2014). Yet, research over the past thirty years has shown direct benefits of use of powered mobility devices (Butler, 1983; Feldner et al,, 2015). Ride-on toy cars (ROC) were mentioned as a potential powered mobility device as early as 1988. However, only recently have modified ROCs emerged as an alternative to standard powered mobility devices. Previous research has demonstrated the benefits of use of modified ROCs for children with disabilities to increase independent exploration as well as physical and cognitive development (Logan et al., 2014). An innovative sit-to-stand version was developed and requires a child to stand up in order to activate the switch to encourage the physical skills of pulling from sit-to-stand, weight bearing, and balance (Feldner et al., 2015). The purpose of this case study is to examine modified ROC use by an infant with Down syndrome (DS) to encourage sitting and standing. One infant with DS participated in this study. During baseline, Child A was provide bi-weekly driving sessions that lasted 10 minutes and were video recorded. During the intervention, Child A was provided 20 minutes of driving at least five days per week and a researcher recorded bi-weekly 10 minute driving sessions. Child A initially drove the car in the seated mode, but transitioned over time to the standing mode. From baseline to intervention, the frequency of positive and negative facial expressions increased and decreased respectively. Modified ROCs are an affordable and fun option for children with DS. They provide opportunities in social and physical growth and may help close the developmental gap between children with DS and typically developing children

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Adult chordoid meningioma: a case report

Chordoid meningioma is a rare tumour accounting for less than 0.5% of all meningiomas. It is a WHO grade II tumour with an aggressive behavior. It is a rare variant characterized by cords or trabeculae of eosinophilic or vacuolated cells set in an abundant mucoid matrix. It can be associated with systemic or hematologic manifestations like Castleman disease. The tumor has a propensity for aggressive behavior and increased likelihood of recurrence We report a case of an adult patient with chordoid meningioma who presented with headache and seizures and did not have any hematological/ systemic manifestations. She underwent total excision of the lesion and is doing well

Molecular Analysis of Lymphoid Tissue from Rhesus Macaque Rhadinovirus-Infected Monkeys Identifies Alterations in Host Genes Associated with Oncogenesis

Rhesus macaque (RM) rhadinovirus (RRV) is a simian gamma-2 herpesvirus closely related to human Kaposi’s sarcoma-associated herpesvirus (KSHV). RRV is associated with the development of diseases in simian immunodeficiency virus (SIV) co-infected RM that resemble KSHV-associated pathologies observed in HIV-infected humans, including B cell lymphoproliferative disorders (LPD) and lymphoma. Importantly, how de novo KSHV infection affects the expression of host genes in humans, and how these alterations in gene expression affect viral replication, latency, and disease is unknown. The utility of the RRV/RM infection model provides a novel approach to address these questions in vivo, and utilizing the RRV bacterial artificial chromosome (BAC) system, the effects of specific viral genes on host gene expression patterns can also be explored. To gain insight into the effects of RRV infection on global host gene expression patterns in vivo, and to simultaneously assess the contributions of the immune inhibitory viral CD200 (vCD200) molecule to host gene regulation, RNA-seq was performed on pre- and post-infection lymph node (LN) biopsy samples from RM infected with either BAC-derived WT (n = 4) or vCD200 mutant RRV (n = 4). A variety of genes were identified as being altered in LN tissue samples due to RRV infection, including cancer-associated genes activation-induced cytidine deaminase (AICDA), glypican-1 (GPC1), CX3C chemokine receptor 1 (CX3CR1), and Ras dexamethasone-induced 1 (RasD1). Further analyses also indicate that GPC1 may be associated with lymphomagenesis. Finally, comparison of infection groups identified the differential expression of host gene thioredoxin interacting protein (TXNIP), suggesting a possible mechanism by which vCD200 negatively affects RRV viral loads in vivo