RESUMO
Compartment syndrome is a limb-threatening surgical emergency that typically occurs unilaterally in the lower leg after trauma. It often occurs within hours of injury but can occur up to 48 hours or even several days later. We report the case of a male patient in his late 70s presenting with subacute, atraumatic, bilateral forearm compartment syndrome. The patient had commenced treatment for newly diagnosed chronic myeloid leukaemia and had in addition recently started a course of rivaroxaban for suspected deep venous thrombosis 3 weeks prior. The patient presented with bilateral upper limb swelling, skin discolouration, progressive pain and dysfunction. Emergency bilateral multicompartmental forearm fasciotomy was performed for limb preservation.
Assuntos
Síndromes Compartimentais , Fasciotomia , Antebraço , Leucemia Mielogênica Crônica BCR-ABL Positiva , Humanos , Masculino , Síndromes Compartimentais/diagnóstico , Síndromes Compartimentais/etiologia , Síndromes Compartimentais/cirurgia , Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Fasciotomia/métodos , IdosoRESUMO
Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry-diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 patients with AML with genomically confirmed African ancestry (Black; Alliance) and compared their somatic mutation frequencies with those of 323 self-reported white patients with AML, 55% of whom had genomically confirmed European ancestry (white; BeatAML). Here we find that 73% of 162 gene mutations recurrent in Black patients, including a hitherto unreported PHIP alteration detected in 7% of patients, were found in one white patient or not detected. Black patients with myelodysplasia-related AML were younger than white patients suggesting intrinsic and/or extrinsic dysplasia-causing stressors. On multivariable analyses of Black patients, NPM1 and NRAS mutations were associated with inferior disease-free and IDH1 and IDH2 mutations with reduced overall survival. Inflammatory profiles, cell type distributions and transcriptional profiles differed between Black and white patients with NPM1 mutations. Incorporation of ancestry-specific risk markers into the 2022 European LeukemiaNet genetic risk stratification changed risk group assignment for one-third of Black patients and improved their outcome prediction.
RESUMO
Mutations in protein tyrosine phosphatase non-receptor type 11 ( PTPN11 ) have been considered late acquired mutations in acute myeloid leukemia (AML) development. To interrogate the ontogeny of PTPN11 mutations, we utilized single-cell DNA sequencing and identified that PTPN11 mutations can occur as initiating events in some AML patients when accompanied by strong oncogenic drivers, commonly NPM1 mutations. The co-driver role of PTPN11 mutations was confirmed in a novel murine model that exhibits an AML phenotype with early expansion of a diverse set of variably differentiated myeloid cells that engrafted into immunodeficient and immunocompetent mice. This immune diversity was reconstituted from early precursor cells when engrafted into immunodeficient mice. Moreover, immune diversity was also observed in the blast component of patient samples with NPM1 and PTPN11 mutations, providing novel antigen targets for immune based approaches in this subset of AML that is resistant to multiple targeted therapies.
RESUMO
ABSTRACT: Electronic sports, or esports, has a global audience of over 300 million fans and is increasing in popularity, resulting in projected revenue of over $1 billion by the end of this past year. The global pandemic of 2020 had little to no effect on these increasing numbers because athletes have been able to continue to engage in sports because of its electronic nature and fans have been able to follow them virtually. Esports has been recognized as an organized sport by the International Olympic Committee, the US National Collegiate Athletic Association, and several secondary school athletic associations within the United States. In addition, professional teams have been established in several major cities within the United States, Canada, Europe, and Australia. With the growth of esports, the necessity of incorporating esports medicine into the practice of sports medicine physicians has become paramount. Esports can be played on a monitor or screen and played using physical activity in what has become known as active video gaming. Within both of these platforms, there have emerged certain conditions unique to esports. There are also certain conditions seen in other sports applicable to esports athletes. This document will review the evaluation of the esports athlete, introduce conditions unique to these athletes and review common conditions seen in esports, discuss diagnostics used in the evaluation of esports athletes, introduce treatment options for conditions unique to esports and review those for commonly seen injuries in esports, discuss prevention of injuries in esports, and introduce a framework for the future development of esports medicine that can be introduced into the daily practice of the sports medicine physician.