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Applications of genome sequencing as a single platform for clinical constitutional genetic testing.
Genet Med Open
March 2024
Department of Pathology, Stanford University, Stanford, CA.
The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including the utilization of exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing.
View Article and Find Full Text PDFTP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFCould Pulsed Wave Tissue Doppler Imaging Solve the Diagnostic Dilemma of Right Atrial Masses and Pseudomasses? A Case Series and Literature Review.
J Clin Med
December 2024
Department of Biomedical, Surgical and Dental Sciences, University of Milan, 20122 Milan, Italy.
Even if rarely detected, right atrial (RA) masses represent a diagnostic challenge due to their heterogeneous presentation. Para-physiological RA structures, such as a prominent Eustachian valve, Chiari's network, and lipomatous atrial hypertrophy, may easily be misinterpreted as pathological RA masses, including thrombi, myxomas, and vegetations. Each pathological mass should always be correlated with adequate clinical, anamnestic, and laboratory data.
View Article and Find Full Text PDFStackDILI: Enhancing Drug-Induced Liver Injury Prediction through Stacking Strategy with Effective Molecular Representations.
J Chem Inf Model
January 2025
Kobilka Institute of Innovative Drug Discovery, School of Medicine, The Chinese University of Hong Kong, Shenzhen, 2001 Longxiang Road, 518172 Shenzhen, China.
Drug-induced liver injury (DILI) is a major challenge in drug development, often leading to clinical trial failures and market withdrawals due to liver toxicity. This study presents StackDILI, a computational framework designed to accelerate toxicity assessment by predicting DILI risk. StackDILI integrates multiple molecular descriptors to extract structural and physicochemical features, including the constitution, pharmacophore, MACCS, and E-state descriptors.
View Article and Find Full Text PDFHemophagocytic Lymphohistiocytosis Secondary to Visceral Leishmaniasis: A Case Report.
Cureus
December 2024
Internal Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical entity characterized by fever, constitutional symptoms, and hepatosplenomegaly associated with the presence of hemophagocytosis in the bone marrow and other organs. Visceral leishmaniasis (VL) is a severe zoonotic disease hypoendemic in Portugal, particularly in the Alto Douro region. We report the case of a 21-year-old female patient with a recent diagnosis of human immunodeficiency virus (HIV) infection, stage C3, in the context of severe pneumonia, who presented to the emergency department with fever, erythematous rash on the upper limbs and trunk, choluria and jaundice, one week after starting antiretroviral therapy (ART).
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