CRIS

Permanent URI for this communityhttps://investigadores.udd.cl/handle/123456789/1

Browse

Settings

Subject: search.filters.subject.diagnostic value

Search Results

Now showing 1 - 8 of 8
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    MET Exon 14 Skipping and Novel Actionable Variants: Diagnostic and Therapeutic Implications in Latin American Non-Small-Cell Lung Cancer Patients
    (MDPI AG, 2024-12-22)
    RIVAS VERA, SOLANGE VERÓNICA  
    ;
    Romina V. Sepúlveda
    ;
    TAPIA DUFEY, JUAN IGNACIO
    ;
    Catalina Estay
    ;
    Vicente Soto
    <jats:p>Targeted therapy indications for actionable variants in non-small-cell lung cancer (NSCLC) have primarily been studied in Caucasian populations, with limited data on Latin American patients. This study utilized a 52-genes next-generation sequencing (NGS) panel to analyze 1560 tumor biopsies from NSCLC patients in Chile, Brazil, and Peru. The RNA sequencing reads and DNA coverage were correlated to improve the detection of the actionable MET exon 14 skipping variant (METex14). The pathogenicity of MET variants of uncertain significance (VUSs) was assessed using bioinformatic methods, based on their predicted driver potential. The effects of the predicted drivers VUS T992I and H1094Y on c-MET signaling activation, proliferation, and migration were evaluated in HEK293T, BEAS-2B, and H1993 cell lines. Subsequently, c-Met inhibitors were tested in 2D and 3D cell cultures, and drug affinity was determined using 3D structure simulations. The prevalence of MET variants in the South American cohort was 8%, and RNA-based diagnosis detected 27% more cases of METex14 than DNA-based methods. Notably, 20% of METex14 cases with RNA reads below the detection threshold were confirmed using DNA analysis. The novel actionable T992I and H1094Y variants induced proliferation and migration through c-Met/Akt signaling. Both variants showed sensitivity to crizotinib and savolitinib, but the H1094Y variant exhibited reduced sensitivity to capmatinib. These findings highlight the importance of RNA-based METex14 diagnosis and reveal the drug sensitivity profiles of novel actionable MET variants from an understudied patient population.</jats:p>
    Scopus© Citations 4  8
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Are the Chicago 3.0 manometric diagnostics consistent with Chicago 4.0?
    (2023)
    Angélica Tobón
    ;
    Albis C Hani
    ;
    Cristiam D Pulgarin
    ;
    Andres F Ardila
    ;
    Oscar M Muñoz
    <jats:title>Summary</jats:title> <jats:p>There is little information on the degree of concordance between the results obtained using the Chicago 3.0 (CCv3.0) and Chicago 4.0 (CCv4.0) protocols to interpret high-resolution manometry (HRM) seeking to determine the value provided by the new swallowing maneuvers included in the last protocol. This is a study of diagnostic tests, evaluating concordance by consistency between the results obtained by the CCv3.0 and CCv4.0 protocols, in patients undergoing HRM. Concordance was assessed with the kappa test. Bland–Altman scatter plots, and Lin’s correlation-concordance coefficient (CCC) were used to assess the agreement between IRP measured with swallows in the supine and seated position or with solid swallows. One hundred thirty-two patients were included (65% women, age 53 ± 17 years). The most frequent HRM indication was dysphagia (46.1%). Type I was the most common type of gastroesophageal junction. The most frequent CCv4.0 diagnoses were normal esophageal motility (68.9%), achalasia (15.5%), and ineffective esophageal motility (IEM; 5.3%). The agreement between the results was substantial (Kappa 0.77 ± 0.05), with a total agreement of 87.9%. Diagnostic reclassification occurred in 12.1%, from IEM in CCv3.0 to normal esophageal motility in CCv4.0. Similarly, there was a high level of agreement between the IRP measured in the supine compared to the seated position (CCC0.92) and with solid swallows (CCC0.96). In conclusion, the CCv4.0 protocol presents a high concordance compared to CCv3.0. In the majority of manometric diagnoses there is no reclassification of patients with provocation tests. However, the more restrictive criteria of CCv4.0 achieve a better reclassification of patients with IEM.</jats:p>
      10Scopus© Citations 1
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Head-to-head comparison of CAMPYAIR aerobic culture medium versus standard microaerophilic culture for Campylobacter isolation from clinical samples
    (2023)
    Arturo Levican
    ;
    Carmen Varela
    ;
    Lorena Porte  
    ;
    WEITZEL, THOMAS  
    ;
    Isabel Briceño
    <jats:p><jats:italic>Campylobacter</jats:italic> spp. are considered the most frequent cause of acute gastroenteritis worldwide. However, outside high-income countries, its burden is poorly understood. Limited published data suggest that <jats:italic>Campylobacter</jats:italic> prevalence in low- and middle-income countries is high, but their reservoirs and age distribution are different. Culturing <jats:italic>Campylobacter</jats:italic> is expensive due to laboratory equipment and supplies needed to grow the bacterium (e.g., selective culture media, microaerophilic atmosphere, and a 42°C incubator). These requirements limit the diagnostic capacity of clinical laboratories in many resource-poor regions, leading to significant underdiagnosis and underreporting of isolation of the pathogen. CAMPYAIR, a newly developed selective differential medium, permits <jats:italic>Campylobacter</jats:italic> isolation without the need for microaerophilic incubation. The medium is supplemented with antibiotics to allow <jats:italic>Campylobacter</jats:italic> isolation in complex matrices such as human feces. The present study aims to evaluate the ability of the medium to recover <jats:italic>Campylobacter</jats:italic> from routine clinical samples. A total of 191 human stool samples were used to compare the ability of CAMPYAIR (aerobic incubation) and a commercial <jats:italic>Campylobacter</jats:italic> medium (CASA, microaerophilic incubation) to recover <jats:italic>Campylobacter</jats:italic>. All <jats:italic>Campylobacter</jats:italic> isolates were then identified by MALDI-TOF MS. CAMPYAIR showed sensitivity and specificity values of 87.5% (95% CI 47.4%–99.7%) and 100% (95% CI 98%–100%), respectively. The positive predictive value of CAMPYAIR was 100% and its negative predictive value was 99.5% (95% CI 96.7%–99.9%); Kappa Cohen coefficient was 0.93 (95% CI 0.79–1.0). The high diagnostic performance and low technical requirements of the CAMPYAIR medium could permit <jats:italic>Campylobacter</jats:italic> culture in countries with limited resources.</jats:p>
    Scopus© Citations 3  1
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Endobronchial ultrasound- guided transbronchial needle aspiration for mediastinal lymph node staging in patients with typical pulmonary carcinoids
    (2020)
    Macarena R. Vial
    ;
    Faria Nasim
    ;
    Henriette De La Garza
    ;
    David E. Ost
    ;
    Roberto F. Casal
      12Scopus© Citations 4
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
      2
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
      1  1
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
    (2019)
    Aara Patel
    ;
    Jane D. Hayward
    ;
    Vijay Tailor
    ;
    Rodney Nyanhete
    ;
    Helena Ahlfors
      2Scopus© Citations 103
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Virtual Unenhanced Images at Dual-Energy CT: Influence on Renal Lesion Characterization
    (2019)
    Mathias Meyer
    ;
    Rendon C. Nelson
    ;
    Federica Vernuccio
    ;
    GONZALEZ COFRE, FERNANDO OMAR  
    ;
    Alfredo E. Farjat
      1Scopus© Citations 66