Search results for "Alteration"
showing 10 items of 76 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…
Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project
2012
Background: In the INRG dataset, the hypothesis that any segmental chromosomal alteration might be of prognostic impact in neuroblastoma without MYCN amplification (MNA) was tested. Methods: The presence of any segmental chromosomal alteration (chromosome 1p deletion, 11q deletion and/or chromosome 17q gain) defined a segmental genomic profile. Only tumours with a confirmed unaltered status for all three chromosome arms were considered as having no segmental chromosomal alterations. Results: Among the 8800 patients in the INRG database, a genomic type could be attributed for 505 patients without MNA: 397 cases had a segmental genomic type, whereas 108 cases had an absence of any segmental a…
Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblasto…
2011
BACKGROUND: In neuroblastoma (NB), the presence of segmental chromosome alterations (SCAs) is associated with a higher risk of relapse. METHODS: In order to analyse the role of SCAs in infants with localised unresectable/disseminated NB without MYCN amplification, we have performed an array CGH analysis of tumours from infants enrolled in the prospective European INES trials. RESULTS: Tumour samples from 218 out of 300 enroled patients could be analysed. Segmental chromosome alterations were observed in 11%, 20% and 59% of infants enroled in trials INES99.1 (localised unresectable NB), INES99.2 (stage 4s) and INES99.3 (stage 4) (P<0.0001). Progression-free survival was poorer in patients wh…
Analysis of Germline Gene Copy Number Variants of Patients with Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations
2013
<b><i>Objectives:</i></b> The rapid fatality of pancreatic cancer is, in large part, the result of diagnosis at an advanced stage in the majority of patients. Identification of individuals at risk of developing pancreatic adenocarcinoma would be useful to improve the prognosis of this disease. There is presently no biological or genetic indicator allowing the detection of patients at risk. Our main goal was to identify copy number variants (CNVs) common to all patients with sporadic pancreatic cancer. <b><i>Methods:</i></b> We analyzed gene CNVs in leukocyte DNA from 31 patients with sporadic pancreatic adenocarcinoma and from 93 matched contr…
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).
2021
Background Vascular alterations induced by antineoplastic treatment might be considered as a possible underlying mechanism of increased cardiovascular sequelae in childhood cancer survivors (CCSs). We aimed to evaluate arterial stiffness among long‐term CCSs and to compare the data against a population‐based sample. Methods and Results Arterial stiffness was assessed by digital photoplethysmography (stiffness index; m/s) among 1002 participants of the CVSS (Cardiac and Vascular Late Sequelae in Long‐Term Survivors of Childhood Cancer) study, diagnosed with neoplasia (1980–1990) before an age of 15 years. A population‐based sample from the GHS (Gutenberg Health Study) (n=5252) was investiga…
Incomplete retention of radiation damage in zircon from Sri Lanka
2004
A suite of 18 zircon gemstones from placers in the Highland/Southwestern Complex, Sri Lanka, were subjected to a comprehensive study of their radiation damages and ages. The investigation included X-ray diffraction, Raman and PL spectroscopy, electron microprobe, PIXE and HRTEM analysis, as well as (U-Th)/He and SHRIMP U-Th-Pb age determinations. Zircon samples described in this study are virtually homogeneous. They cover the range from slightly metamict to nearly amorphous. Generally concordant U-Th-Pb ages averaging 555 ± 11 Ma were obtained. Late Ordovician zircon (U-Th)/He ages scattering around 443 ± 9 Ma correspond reasonably well with previously determined biotite Rb-Sr ages for rock…
The close link between brain vascular pathological conditions and neurodegenerative diseases: Focus on some examples and potential treatments
2022
A close relationship is emerging among the age-related neurodegenerative decline, and the age-related typical alterations, dysfunctions, and related diseases of the cerobro-and/or cardiovascular system, which contributes in a significative manner to the triggering and progressing of neurodegenerative diseases (NeuroDegD). Specifically, macroinfarcts, microinfarcts, micro-hemorrhages (and particularly their number), atherosclerosis, arteriolosclerosis and cerebral amyloid angiopathy have been documented to be significantly associated with the onset of the cognitive impairment. In addition, vascular alterations and dysfunctions resulting in a reduced cerebral blood flow, and anomalies in the …
Per una rilettura kantiana del principio di causalità
2018
There is no contradiction between Kant’s statement that the proposition, “every alteration has its cause,” is of no interest to the Critique of Pure Reason because of its dependence on empirical contents (KrV, B 3) and his use of the same proposition as an example of pure a priori knowledge (KrV, B 5). There is only the arduousness and sometimes also the ambiguity of a passage in which Kant attempts to establish a new basis for the validity of the principle of causality.
Photosensitization and phototherapy with furocoumarins: A quantum-chemical study
2008
Abstract The effect of electromagnetic radiation on biological objects extends from heating to complex photochemistry, and includes DNA alteration, that properly modified in damaged cells may entail beneficial effects. In this regard, psoralen + UV-A (PUVA) therapy, in which furocoumarins, psoralen-like chromophores, are used as photosensitizers and photoreactants with DNA bases, is one of the most promising strategies against a plethora of diseases. Understanding the underlying photochemical mechanisms is crucial to design effective drugs without undesired side effects. We have undertaken a quantum-mechanical study on the photophysics and photochemistry of furocoumarins, analyzing firstly …