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Diagnostic Accuracy of Median Nerve Cross-Sectional Area in Suspected Amyotrophic Lateral Sclerosis.
Muscle Nerve
January 2025
Department of Neurology, Brain Center Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
Introduction/aims: Reduced nerve sizes obtained by nerve ultrasound (NUS) have been proposed as a potential diagnostic marker for amyotrophic lateral sclerosis (ALS). However, prospective studies evaluating patients with suspected ALS are currently lacking. We, therefore, evaluated the diagnostic accuracy of a standardized NUS protocol in a large sample of suspected ALS patients.
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 PDFBrain Dead or Alive: A Case Report of Inaccurate Neurological Prognostication.
Cureus
December 2024
Neurology, Stony Brook University, Stony Brook, USA.
Although numerous definitions of brain death exist, the diagnosis and diagnostic process remain open to interpretation. We present the case of a 32-year-old male with systemic lupus erythematosus who presented to an outside hospital following a cardiac arrest while jogging. His electroencephalogram (EEG) showed abnormal contour in the posterior fields.
View Article and Find Full Text PDFGestational trophoblastic disease: STR genotyping for precision diagnosis.
Expert Rev Mol Diagn
January 2025
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Introduction: Gestational trophoblastic disease (GTD) encompasses a constellation of rare to common gynecologic conditions stemming from aberrant gestations with distinct genetic backgrounds and variable degrees of trophoblast proliferation of either neoplastic or non-neoplastic nature. GTD is categorized into hydatidiform moles and gestational trophoblastic neoplasms, and their clinical outcomes vary widely across different subtypes. Prompt and accurate diagnosis plays a pivotal role in the effective management and prognostication of patients.
View Article and Find Full Text PDFMetastatic Alveolar Soft Part Sarcoma Presenting as an Adrenal Incidentaloma: A Case Report with Review of Literature.
Int J Surg Pathol
January 2025
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Metastasis of alveolar soft part sarcoma (ASPS) to the adrenal gland is infrequent, with only eight patients reported in the literature. Here we present an ASPS in an adolescent girl presented as a hypervascular adrenal incidentaloma along with a review of the available literature. This study aims to serve as a reference to aid in the pre-operative radiological and histopathological diagnosis of this rare entity.
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