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Extramedullary Intradural Primary Spinal Angiosarcoma: A Case Study.
Cureus
November 2024
Neuroradiology, Instituto Português de Oncologia do Porto Francisco Gentil, Porto, PRT.
Angiosarcoma is a rare soft tissue sarcoma, namely when it presents as a primary intradural extramedullary spinal neoplasm, with only one case of non-vertebral origin reported in the literature. We present the case of a 51-year-old woman with neurological symptoms of paraparesis and constipation who underwent a magnetic resonance imaging (MRI) that revealed a well-demarcated, predominantly homogeneous, intensely enhancing intradural extramedullary lesion in T2-weighted images. Histology, immunohistochemistry, and genetics of the lesion showed an angiosarcoma.
View Article and Find Full Text PDFFilamin C Truncating Variant Causes Severe Conduction Defects and Mild Cardiomyopathy.
Cureus
November 2024
Department of Medical Genetics, Institute of Science Tokyo, Tokyo, JPN.
Filamin C (FLNC), recently identified as a causative gene of cardiomyopathy, is widely expressed in cardiomyocytes and is involved in signal transduction between the sarcomere and the plasma membrane. In general, the FLNC truncating variant causes severe dilated cardiomyopathy. A 70-year-old female was referred to our hospital with advanced conduction defects and underwent pacemaker implantation.
View Article and Find Full Text PDFCorrelation between conventional karyotype, interphase FISH and immunophenotype in risk stratification of newly diagnosed plasma cell myeloma: An observational study.
Med J Armed Forces India
December 2024
Professor (Lab Sciences & Molecular Medicine), Army Hospital (R&R), Delhi Cantt, India.
Background: Plasma cell myeloma (PCM) is a common adult hematological neoplasm of terminally differentiated B-cells resulting in accumulation of monoclonal plasma cells. PCM is heterogeneous disease with survival time varies from months to years, determined by age, stage, cytogenetics abnormalities, and treatment response. There is conflicting evidence in role of immunophenotype as a prognostic indicator.
View Article and Find Full Text PDFTemporal changes in Plasmodium falciparum genetic diversity and multiplicity of infection across three areas of varying malaria transmission intensities in Uganda.
Trop Med Health
December 2024
Clinical Epidemiology Unit, School of Medicine, Makerere University College of Health Sciences, P. O. Box 7072, Kampala, Uganda.
Background: Malaria is a significant public health challenge in Uganda, with Plasmodium falciparum (P. falciparum) responsible for most of malaria infections. The high genetic diversity and multiplicity of infection (MOI) associated with P.
View Article and Find Full Text PDFDisentangling the genetic overlap between ischemic stroke and obesity.
Diabetol Metab Syndr
December 2024
Department of Neurosurgery, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, People's Republic of China.
Objective: Obesity has been recognized as a risk factor for cerebrovascular diseases, with observational studies suggesting a heightened incidence of stroke. However, the genetic epidemiology field has yet to reach a consensus on the causal relationship and genetic overlap between ischemic stroke (IS) and obesity.
Methods: We utilized linkage disequilibrium score regression, high-definition likelihood, and local analysis of variant associations to assess the genetic correlation between body mass index (BMI) and IS.
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