Search results for "enfermedades"
showing 10 items of 244 documents
First Nationwide Molecular Screening Program in Spain for Patients With Advanced Breast Cancer: Results From the AGATA SOLTI-1301 Study
2021
Anàlisi de seqüències d'ADN; Subtipus PAM50; Genètica molecular Análisis de secuencias de ADN; Subtipo PAM50; Genética molecular DNA sequence analyses; PAM50 subtype; Molecular genetic Background: The SOLTI-1301 AGATA study aimed to assess the feasibility of a multi-institutional molecular screening program to better characterize the genomic landscape of advanced breast cancer (ABC) and to facilitate patient access to matched-targeted therapies in Spain. Methods: DNA sequencing of 74 cancer-related genes was performed using FFPE tumor samples in three different laboratories with three different gene panels. A multidisciplinary advisory board prospectively recommended potential targeted trea…
Beyond the lessons learned from the COVID-19 pandemic: opportunities to optimize clinical trial implementation in oncology.
2021
Abstract The COVID-19 pandemic affected millions of people globally with lasting effects on society, patients, investigators and health institutions. Clinical trials, our best tool to improve cancer treatment for patients through testing the clinical value of a new treatment, have been affected by the pandemic. The pandemic footprint represents both a risk of compromising development of new therapies and an opportunity to elicit discussion over a portfolio of broader reforms, applicable irrespective of pandemics, in order to improve the design and implementation of clinical trials in oncology. The administrative load should be reduced, without affecting the quality of research and principle…
LungBEAM: A prospective multicenter study to monitor stage IV NSCLC patients with EGFR mutations using BEAMing technology
2021
Abstract Objectives The aim of LungBEAM was to determine the value of a novel epidermal growth factor receptor (EGFR) mutation test in blood based on BEAMing technology to predict disease progression in advanced non‐small cell lung cancer (NSCLC) patients treated with first‐ or second‐generation EGFR‐tyrosine kinase inhibitors (EGFR‐TKIs). Another goal was to monitor the dynamics of EGFR mutations, as well as to track EGFR exon 20 p.T790M (p.T790M) resistance during treatment, as critical indicators of therapeutic efficacy and patient survival. Methods Stage IV NSCLC patients with locally confirmed EGFR‐TKI sensitizing mutations (ex19del and/or L858R) in biopsy tissue who were candidates to…
Prognostic heterogeneity of adult B-cell precursor acute lymphoblastic leukaemia patients with t(1;19)(q23;p13)/TCF3-PBX1 treated with measurable res…
2021
Programa para el Tratamiento de Hemopatias Malignas (PETHEMA) Group (Spanish Society of Hematology, SEHH).
Deciphering Multiple Sclerosis Progression
2021
Esclerosi múltiple; Neurodegeneració Esclerosis múltiple; Neurodegeneración Multiple sclerosis; Nneurodegeneration Multiple sclerosis (MS) is primarily an inflammatory and degenerative disease of the central nervous system, triggered by unknown environmental factors in patients with predisposing genetic risk profiles. The prevention of neurological disability is one of the essential goals to be achieved in a patient with MS. However, the pathogenic mechanisms driving the progressive phase of the disease remain unknown. It was described that the pathophysiological mechanisms associated with disease progression are present from disease onset. In daily practice, there is a lack of clinical, ra…
The potential of serum neurofilament as biomarker for multiple sclerosis
2021
Abstract Multiple sclerosis is a highly heterogeneous disease, and the detection of neuroaxonal damage as well as its quantification is a critical step for patients. Blood-based serum neurofilament light chain (sNfL) is currently under close investigation as an easily accessible biomarker of prognosis and treatment response in patients with multiple sclerosis. There is abundant evidence that sNfL levels reflect ongoing inflammatory-driven neuroaxonal damage (e.g. relapses or MRI disease activity) and that sNfL levels predict disease activity over the next few years. In contrast, the association of sNfL with long-term clinical outcomes or its ability to reflect slow, diffuse neurodegenerativ…
Impact of BCR-ABL1 Transcript Type on Response, Treatment-Free Remission Rate and Survival in Chronic Myeloid Leukemia Patients Treated with Imatinib
2021
Chronic myeloid leukemia; BCR-ABL1 transcripts; Response to imatinib Leucemia mieloide crónica; Transcripciones de BCR-ABL1; Respuesta al imatinib Leucèmia mieloide crònica; Transcripcions BCR-ABL1; Resposta a imatinib The most frequent BCR-ABL1-p210 transcripts in chronic myeloid leukemia (CML) are e14a2 and e13a2. Imatinib (IM) is the most common first-line tyrosine–kinase inhibitor (TKI) used to treat CML. Some studies suggest that BCR-ABL1 transcript types confer different responses to IM. The objective of this study was to correlate the expression of e14a2 or e13a2 to clinical characteristics, cumulative cytogenetic and molecular responses to IM, acquisition of deep molecular response …
Estudios clínicos sobre la enfermedad celíaca (2014-2019): revisión sistemática de la prevalencia de la presentación clínica y enfermedades asociadas…
2020
Introducción: La enfermedad celíaca (EC) se caracteriza por una gran variedad de signos, síntomas y enfermedades asociadas en su forma de presentación, incluso puede cursar de forma asintomática. Recientes estudios muestran la variación del espectro clínico según la edad. En niños y niñas pequeñas predomina la forma clásica con síntomas como distensión abdominal, disminución del apetito, diarrea y pérdida de peso. Las manifestaciones atípicas frecuentes en niños mayores son dolor abdominal, estreñimiento, reflujo, vómitos, fatiga, talla baja. En adultos se observa una reducción de la forma de presentación clásica e incremento de la no clásica.Material y métodos: Se realizó una revisión sist…
Hipoplasia pulmonar en el adulto: descripción, patogenia y revisión
2002
La hipoplasia pulmonar es una entidad muy poco frecuente caracterizada por una detención en el desarrollo pulmonar, que produce que estos órganos se encuentren poco desarrollados. Habitualmente esta enfermedad es diagnosticada en la infancia y son muy pocos los casos que pasan desapercibidos detectándose en la edad adulta (>18 años). Presentamos cuatro casos de pacientes adultos diagnosticados de hipoplasia pulmonar por diversas técnicas (de imagen o invasivas), que consultaron por sintomatología inespecífica, sobre todo relacionada con infecciones respiratorias y su posterior evolución a lo largo de los años. Repasamos además la patogenia, etiología y malformaciones asociadas de esta enfer…
Neumotórax espontáneo y presión atmosférica
2002
In order to assess factors associated with spontaneous pneumothorax (SP), mainly climatic changes, a prospective study was undertaken of 62 SP episodes among patients admitted to our hospital during a two-year period, from January 1994 to January 1996. Atmospheric pressure (AP) changes were analyzed, with daily recording of the number of unusual changes in AP (increases above 95th percentile and decreases below 5th percentile) and how many of these changes were followed by some episode of spontaneous pneumothorax during the following five days. To measure the degree of this association between the emergence of pneumothorax and exposure to unusual changes I AP, the relative risk (RR) was cal…