RESUMO
BACKGROUND: Shoulder dislocations and elbow dislocations are common presentations to the emergency department (ED). Simultaneous ipsilateral elbow and shoulder dislocations are rarely reported and typically occur secondary to trauma. CASE REPORT: A 45-year-old female presented to the ED after a fall from standing and complained of upper right extremity pain. Radiographs revealed posterior dislocation of the right elbow and anterior dislocation of the right shoulder without fractures. Successful reduction of the elbow and shoulder were both achieved, and the patient was placed in a long-arm splint and sling. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case describes the unique mechanism of injury of a simultaneous ipsilateral shoulder and elbow dislocation without trauma.
RESUMO
Copy number variation (CNV) of certain genes in pediatric Acute Lymphoblastic Leukemia (ALL) impacts gene expression levels. Here, we aimed to investigate the potential prognostic utility of CNVs in pediatric B-ALL and T-ALL. Using genomics files representing cases from the TARGET-ALL-P2 dataset, genes commonly involved in ALL development were analyzed for CNVs. Case IDs representing increased copy numbers for SOX11, PDGFRB, and MDK represented a worse overall survival probability specifically for B-ALL (logrank p=0.021, p=0.0052, p=0.019, respectively). These data support the continued investigation of using CNVs for clinical prognostic biomarkers for pediatric B-ALL.
Assuntos
Amplificação de Genes , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Humanos , Variações do Número de Cópias de DNA/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Genômica , Fatores de Transcrição SOXC/genéticaRESUMO
PURPOSE: In certain cancers, oncogene amplification is correlated with an immunologically cold or noninflamed, tumor immune microenvironment (TIME) and a worse prognosis, for example, in the case of MYCN-amplified neuroblastoma (NBL). However, for other cancer types, the relationship between oncogene amplification and immune response is more complicated or unresolved. One such cancer is glioblastoma multiforme (GBM), in which the epidermal growth factor receptor (EGFR) oncogene is commonly amplified. Unlike MYCN-amplified NBL, EGFR-amplified GBM has not been shown to correlate with a distinct survival probability. METHODS: Given this contrasting state for NBL and GBM, we sought to apply a genomics approach to evaluating the immune response for cases with gene amplification. RESULTS: Our results confirmed and added further specificity to the cold TIME of MYCN-amplified NBL. Moreover, we demonstrated a novel state of immunologically cold EGFR-amplified GBM tumors. CONCLUSION: This approach to using copy number variation and immune receptor recombination read recovery levels to assess gene amplification and TIME, respectively, may be particularly efficient for the rapid evaluation of many other cancer types.