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Principles in the Management of Glioblastoma
Roda, Domingos; Veiga, Pedro; Melo, Joana Barbosa; Carreira, Isabel Marques; Ribeiro, Ilda PatríciaGlioblastoma, the most aggressive and common malignant primary brain tumour, is characterized by infiltrative growth, abundant vascularization, and aggressive clinical evolution. Patients with glioblastoma often face poor prognoses, with a median survival of approximately 15 months. Technological progress and the subsequent improvement in understanding the pathophysiology of these tumours have not translated in...
Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...
Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina Maria Gonçalves; Robalo, Conceição; Rito, Manuel; Pereira, RicardoIntroduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...
Common and rare genetic risk variants in age-related macular degeneration and g...
Farinha, Cláudia; Barreto, Patrícia; Coimbra, Rita; Cachulo, Maria da Luz; Melo, Joana Barbosa; Cunha-Vaz, José; Lechanteur, Yara; Hoyng, Carel B.Purpose: To determine the contribution of common and rare genetic variants in age-related macular degeneration (AMD) in a Portuguese population from the Coimbra Eye Study (CES), and the genetic risk score (GRS). Methods: Participants underwent ophthalmologic examination and imaging. A centralized reading centre performed AMD staging. Genetic sequencing was carried out with the EYE-RISK assay. Sixty-nine single ...
Alvespimycin Inhibits Heat Shock Protein 90 and Overcomes Imatinib Resistance i...
Alves, Raquel; Santos, Diogo; Jorge, Joana; Gonçalves, Ana Cristina; Catarino, Steve; Girão, Henrique; Melo, Joana Barbosa; Sarmento-Ribeiro, Ana BelaHeat shock protein 90 (HSP90) facilitates folding and stability and prevents the degradation of multiple client proteins. One of these HSP90 clients is BCR-ABL, the oncoprotein characteristic of chronic myeloid leukemia (CML) and the target of tyrosine kinase inhibitors, such as imatinib. Alvespimycin is an HSP90 inhibitor with better pharmacokinetic properties and fewer side effects than other similar drugs, b...
Interaction between genetics and the adherence to the Mediterranean diet: the r...
Barreto, Patrícia; Farinha, Cláudia; Coimbra, Rita; Cachulo, Maria da Luz; Melo, Joana Barbosa; Lechanteur, Yara; Hoyng, Carel B.; Cunha-Vaz, JoséBackground Age-related macular degeneration (AMD) is a multifactorial degenerative disease of the macula. Different factors, environmental, genetic and lifestyle, contribute to its onset and progression. However, how they interconnect to promote the disease, or its progression, is still unclear. With this work, we aim to assess the interaction of the genetic risk for AMD and the adherence to the Mediterranean d...
Genetic Associations with Age-related Macular Degeneration and Genetic Risk Sco...
Farinha, Claudia; Barreto, Patrícia; Coimbra, Rita; Cachulo, Maria Luz; Melo, Joana Barbosa; Hoyng, Carel B.; Cunha-Vaz , José; Murta, JoaquimIntroduction: To date several genetic variants are known to play an important role in age-related macular degeneration(AMD). Variations in the genetic pool of different populations impact the disease prevalence, incidence and risk of progression. This report aims to determine the genetic contribution in the development of AMD in a Portuguese population from the Coimbra Eye Study (CES,NCT01298674,NCT02748824), a...
Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring
Martins, Ivana; Ribeiro, Ilda Patrícia; Jorge, Joana; Gonçalves, Ana Cristina; Sarmento-Ribeiro, Ana Bela; Melo, Joana Barbosa; Carreira, Isabel MarquesThe minimally-or non-invasive detection of circulating tumor-derived components in biofluids, such as blood, liquid biopsy is a revolutionary approach with significant potential for the management of cancer. Genomic and transcriptomic alterations can be accurately detected through liquid biopsies, which provide a more comprehensive characterization of the heterogeneous tumor profile than tissue biopsies alone. ...
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A S...
Jesus-Ribeiro, Joana; Pires, Luís Miguel; Melo, João Daniel; Ribeiro, Ilda Patrícia; Rebelo, Olinda; Sales, Francisco; Freire, AntónioIntroduction: Focal cortical dysplasias (FCDs) are a group of malformations of cortical development that constitute a common cause of drug-resistant epilepsy, often subjected to neurosurgery, with a suboptimal long-term outcome. The past few years have witnessed a dramatic leap in our understanding of the molecular basis of FCD. This study aimed to provide an updated review on the genomic and epigenetic advance...
Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive m...
Ribeiro, Ilda Patrícia; Caramelo, Francisco; Ribeiro, Margarida; Machado, Ana; Miguéis, Jorge; Marques, Francisco; Carreira, Isabel MarquesDespite the increased molecular knowledge and the diagnostic and therapeutic improvements, the survival of patients with upper aerodigestive tract carcinoma remains poor. The identification of early diagnostic and prognostic biomarkers and the development of molecular models to distinguish patients that will recur and/or develop metastasis after treatment as well as to benefit with target therapies can be impor...
Cytogenetics and Cytogenomics Evaluation in Cancer
Ribeiro, Ilda Patrícia; Melo, Joana Barbosa; Carreira, Isabel MarquesThe availability of cytogenetics and cytogenomics technologies improved the detection and identification of tumor molecular signatures as well as the understanding of cancer initiation and progression. The use of large-scale and high-throughput cytogenomics technologies has led to a fast identification of several cancer candidate biomarkers associated with diagnosis, prognosis, and therapeutics. The advent of a...