A5027437457- Breast Cancer Treatment Studies
- Advanced Breast Cancer Therapies
- Genomic variations and chromosomal abnormalities
- HER2/EGFR in Cancer Research
- Bacterial Infections and Vaccines
- BRCA gene mutations in cancer
- PARP inhibition in cancer therapy
- Dementia and Cognitive Impairment Research
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Ovarian cancer diagnosis and treatment
- Medical Imaging Techniques and Applications
- Metabolism and Genetic Disorders
- Cancer Diagnosis and Treatment
- Infective Endocarditis Diagnosis and Management
- Breast Lesions and Carcinomas
- Cancer Treatment and Pharmacology
- Endometrial and Cervical Cancer Treatments
- Pneumonia and Respiratory Infections
- Pancreatic function and diabetes
- Cancer Risks and Factors
- Youth, Drugs, and Violence
- Brain Metastases and Treatment
- Estrogen and related hormone effects
- Cytokine Signaling Pathways and Interactions
Instituto Português de Oncologia Francisco Gentil
2008-2023
Universidade Católica Portuguesa
2023
Universidade do Porto
2010-2023
IPO Porto
2018-2022
Universidade Nova de Lisboa
2017-2021
CUF Porto Hospital
2017-2021
Hospital de São Bernardo
2017-2021
Centre for Health Technology and Services Research
2020-2021
University of Minho
2015-2019
Centro Hospitalar do Porto
2014-2017
•Taselisib, a selective PI3K inhibitor, plus fulvestrant has clinical activity in PIK3CA-mutant, ER-positive breast cancer.•SANDPIPER (NCT02340221) assessed the efficacy of taselisib advanced cancer.•Taselisib had an expected safety profile, but with more discontinuations than placebo fulvestrant.•Taselisib versus significantly improved progression-free survival. BackgroundThe phase III SANDPIPER study (GDC-0032), potent, estrogen receptor-positive, HER2-negative, PIK3CA-mutant locally or...
AimThe aim of the study was to assess patient preference for fixed-dose combination pertuzumab and trastuzumab subcutaneous injection (PH FDC SC) in patients with HER2-positive early breast cancer PHranceSCa (NCT03674112).Materials methodsPatients who completed neoadjuvant P + H chemotherapy surgery were randomised 1:1 three intravenous (IV) cycles followed by PH SC or vice versa (crossover) then chose (SC) IV infusion continue up 18 (continuation). Assessments via healthcare professional...
Abstract Background Positron emission tomography/computed tomography (PET/CT) has become in recent years a tool for breast cancer (BC) staging. However, its accuracy to detect bone metastases is classically considered inferior scintigraphy (BS). The purpose of this work compare the effectiveness detection between PET/CT and BS. Materials Methods Prospective study 410 female patients treated Comprehensive Cancer Center 2014 2020 that performed BS staging purposes. image analysis was by 2...
Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi). The introduction PARPi clinical practice for treatment patients with advanced ovarian cancer imposed changes molecular diagnosis variants. tumor testing by next-generation sequencing (NGS) can detect simultaneously both somatic germline variants, allowing identification more higher likelihood...
Low-grade serous ovarian cancer (LGSOC) is now considered a different entity from high-grade cancer. The chemoresistance inherent to this type of narrows the therapeutic options, especially in recurrent setting. It thought that mitogen-activated protein kinase (MAPK) pathway plays significant role pathogenesis these tumours, and about 2 20% LGSOC harbour BRAF mutation. Here we present case report two patients with V600E mutation achieved sustained clinical responses combination treatment...
Abstract Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated genetic basis of disease female patient with Rett‐like clinical. Karyotype analysis revealed pericentric inversion X chromosome −46,X,inv(X)(p22.1q28), breakpoints cytobands where and CDKL5 genes are located. FISH that gene not dislocated inversion. However, spite balanced pattern inactivation, this displayed hypomethylation an overexpression at mRNA level lymphocytes (mean fold...
Major Neurocognitive Disorders describe the symptoms of a large group diseases causing progressive decline in individual's functioning. It is an umbrella term describing memory, intellectual ability, reasoning, and social skills, as well changes normal emotional reactions. The general practitioner instrumental early diagnosis Disorder. Individual risk factors act contributing variables affecting probability someone developing Disorder may be considered predictive factors. This study aimed...
A introdução da vacina antipertussis nos programas de vacinação originou uma diminuição drástica incidência tosse convulsa no mundo. No entanto, últimos anos tem-se observado um aumento gradual do número notificações, facto que já levou vários países a reformularem estratégias vacinais para esta doença. Foi efectuada revisão epidemiológica convulsa, realçando estudos baseados em modelos matemáticos tentam prever o impacto novas e recomendações internacionais. Tendo conta realidade...
Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications region less frequently reported patients showed variable phenotype, including macrocephaly. Reports large number with copy variations involving this highlighted AKT3 gene likely key player head size anomalies. We report four novel region: one larger deletion (3.7Mb), two...
Background: The increased focus on quality indicators (QIs) and the use of clinical registries in real-world cancer studies have compliance with therapeutic standards patient survival. European Society Breast Cancer Specialists (EUSOMA) established QIs to assess current breast care. Methods: This retrospective study is part H360 Health Analysis aims describe EUSOMA management different hospital settings (public vs. private; general hospitals oncology centers). A set key performance (KPIs)...
Abstract Background Breast cancer (BC) is largely prevalent worldwide. HER2-positive BC account for roughly 20–25% of all cases and has an overall survival lower than other BC. Innovation on therapeutics a constant, but novel therapies have higher costs. Therefore, cost-effectiveness research essential to provide healthcare decision-makers with solid foundations resource allocation. This study aims estimate the average direct medical costs/patient adding pertuzumab in neoadjuvant treatment...
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was identify genetic causes neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), a cohort 325 Portuguese patients with intellectual disability (ID). We have 30.1% the patients, which 5.2% corresponded...
Major depressive disorder (MDD) is one of the most common mental disorders in older people. There are several biological, psychological, and social factors associated with this disorder. This study aimed to describe state identify potential predictors MDD a population community-dwelling people probable MDD. The sample consisted 378 participants dementia, 47.3% them presenting that were found be sex, living status, mobility, nutritional status. Knowing can predict condition such as extremely...
As infeccoes agudas das vias aereas representam as mais frequentes da infância, na sua maioria de etiologia virica. O virus sincicial respiratorio (VSR), em particular, e um importante patogeneo lactentes criancas, provocando epidemias anuais bronquiolites pneumonias. A gravidade infeccao por VSR a associacao com existencia previa factores risco (prematuridade, doenca membrana hialina, displasia broncopulmonar, cardiopatia congenita imunodeficiencia) motivou os autores efectuar uma analise...
A glicosúria como achado acidental implica um estudo etiológico. Apresentam-se os casos de duas adolescentes do sexo feminino, assintomáticas, referenciadas por detectada em análise rotina. Negavam infecções, traumatismos e ingestão fármacos ou tóxicos. O efetuado confirmou na ausência outras alterações. genético revelou a presença mutações gene SCL5A2, confirmando o diagnóstico renal. renal familiar caracteriza-se isolada persistente hiperglicemia disfunção tubular generalizada. É,...