Publications by authors named "Mateo Sanchis-Borja"

Article Synopsis
  • Osimertinib is a first-line treatment for patients with mutation-positive non-small cell lung cancer (NSCLC), but resistance often develops due to mutations like L718Q or G724S after treatment.
  • This study retrospectively examined nine NSCLC patients in France who acquired these rare mutations after initial EGFR TKI therapy, noting their tumor characteristics and treatment progression.
  • Although no standard treatment exists after these mutations occur, afatinib showed potential effectiveness, with some patients achieving partial responses and others remaining stable for several months.
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Background: Assessment of myocardial viability during ex situ heart perfusion (ESHP) is based on the measurement of lactate concentrations. As this provides with limited information, we sought to investigate the metabolic signature associated with donation after circulatory death (DCD) and the impact of ESHP on the myocardial metabolome.

Methods: Porcine hearts were retrieved either after warm ischemia (DCD group, N = 6); after brain-stem death (BSD group, N = 6); or without DCD nor BSD (Control group, N = 6).

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Article Synopsis
  • BRCA1 and BRCA2 are genes linked to hereditary breast and ovarian cancer, and recent studies indicate they may also increase lung cancer risk.
  • A study in France analyzed medical data from 17 patients with lung cancer (LC) who had known BRCA1/2 variants, primarily focusing on women who were mostly former smokers and had adenocarcinoma.
  • The findings suggest that patients with BRCA2 variants have unique lung cancer characteristics, with specific survival outcomes depending on cancer stage, but no significant differences in survival based on BRCA status were observed.
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Purpose Of Review: Intermediate-risk pulmonary embolisms (PE) represent a heterogeneous group at the high end of hemodynamically stable patients, characterized by a higher mortality rate. This challenging population gathers many unsolved question regarding its therapeutic management. The purpose of this review is to provide an updated overview of the literature regarding further risk stratification and treatment options in this population.

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Pathogenic genetic variants (formerly called mutations) present in the germline of some individuals are associated with a clinically relevant increased risk of developing lung cancer. These germline pathogenic variants are hereditary and are transmitted in an autosomal dominant fashion. There are two major lung cancer susceptibility syndromes, and both seem to be specifically associated with the adenocarcinoma subtype.

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Introduction: Using immune-checkpoint inhibitors (ICIs) to manage cancer is associated with various immune-related adverse events. Central and/or peripheral neurological disorders are rare and potentially serious. We analyzed the characteristics of non-small-cell lung cancer (NSCLC) patients who developed immune-related encephalitis under anti-programmed-death protein-1 or its ligand (PD-1/PD-L1).

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Background: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development.

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