42 documents found, page 1 of 5
Unveiling the Complexity: Mosaic Cardiofaciocutaneous Syndrome Presenting with ...
Rodrigues, Ana Sofia; da Silva, Maria de Abreu Nunes; Azevedo, Aida; Carvalho, Sónia Cristina Dias; Sousa, Álvaro Rui Miranda; Fortuna, AnaCardiofaciocutaneous syndrome (CFC) is a rare disorder of the RAS MAPK-pathway and is characterized by dysmorphic facial appearance, hair and skin abnormalities, congenital heartdefects, growth retardation and global developmental delay. We report the clinical case of a 17 -year-old female with hemihypertrophy, lymphedema, dysmorphic features and intellectual disability in whom peripheral blood panel study for ...
Multidisciplinary approach and treatment of acral and mucosal melanoma
Fortuna, Ana; Amaral, TeresaAcral and mucosal melanoma are uncommon variants of melanoma. Acral melanoma has an age-adjusted incidence of approximately 1.8 cases per million individuals per year, accounting for about 2% to 3% of all melanoma cases. On the other hand, mucosal melanoma, with an incidence of 2.2 cases per million per year, makes up around 1.3% of all melanoma cases. These melanomas, in addition to being biologically and clin...
A systematic review of bleomycin-induced gonadotoxicity: Mechanistic implicatio...
Almeida, Ana Lobo de; Fortuna, Ana; Sousa, Mário; Sá, RosáliaLong-term cancer treatment complications in men include testicular dysfunction and infertility. Although various chemotherapies have been studied, there is limited evidence on their effects, especially for bleomycin. Despite its known lung toxicity, bleomycin's impact on male reproductive health is not well-researched. This systematic review aimed to evaluate bleomycin's effects on testicular function and ferti...
Therapeutic Drug Monitoring of Amikacin in Neutropenic Oncology Patients
Aquino, Maria; Tinoco, Maria; Bicker, Joana; Falcão, Amílcar; Rocha, Marília João; Fortuna, AnaAmikacin is the antibiotic of choice for the treatment of Gram-negative infections, namely, those in neutropenic oncology patients. No populational pharmacokinetic studies are currently available reporting amikacin pharmacokinetics in neutropenic oncology patients despite their specific pathophysiological features and treatments. A large-scale retrospective study was herein conducted to specifically investigate...
Population Pharmacokinetic Analysis of Perampanel in Portuguese Patients Diagno...
Silva, Rui; Colom, Helena; Bicker, Joana; Almeida, Anabela; Silva, Ana; Sales, Francisco; Santana, Isabel; Falcão, Amílcar; Fortuna, AnaPerampanel is a promising antiepileptic drug (AED) for refractory epilepsy treatment due to its innovative mechanism of action. This study aimed to develop a population pharmacokinetic (PopPK) model to be further used in initial dose optimization of perampanel in patients diagnosed with refractory epilepsy. A total of seventy-two plasma concentrations of perampanel obtained from forty-four patients were analyze...
Intranasal delivery of lipid-based nanosystems as a promising approach for brai...
Meirinho, Sara; Rodrigues, Márcio; Ferreira, Catarina; Caetano Oliveira, Rui; Fortuna, Ana; Santos, Adriana; Falcão, Amílcar; Alves, GilbertoPerampanel (PER), a new-generation antiepileptic drug effective against different types of seizures, has already demonstrated a potential in status epilepticus therapy. Considering the growing interest of intranasal (IN) administration for nose-to-brain delivery, PER could be envisioned as a good candidate for this route, especially if formulated in a lipid-based nanosystem. With that purpose, a hydrophobic for...
Study of the metabolic stability profiles of perampanel, rufinamide and stiripe...
Meirinho, Sara; Rodrigues, Márcio; Fortuna, Ana; Falcão, Amílcar; Alves, GilbertoNew-generation antiepileptic drugs as perampanel, rufinamide and stiripentol emerged as alternatives in chronic epilepsy polytherapy. Hence, their metabolic stability and potential involvement in relevant drug-drug interactions (DDI) are of great clinical interest, being HepaRG cells herein used as an in vitro human model. To characterize their metabolic stability profiles, HepaRG cells were incubated with pera...
Relapsed Ovarian Cancer patients with ascites and/or pleural effusion still ben...
Rebordão-Pires, Mariana; Estrada, Marta F.; Gomes, António; Silva, Filipa; Baptista, Carlota; Ramos, Maria João; Fortuna, Ana; Simões, Pedro) Background: Relapsed HGSOC with ascites and/or pleural effusion is a poor-prognostic population and poorly represented in clinical studies. We questioned if these patients are worth treating. In other words, if these patients received the most effective treatment, would it change the course of this disease? To our knowledge this is the first real-life study to evaluate this question in this low-survival popul...
Amorphous nasal powder advanced performance : in vitro/ex vivo studies and corr...
Henriques, Patrícia; Bicker, Joana; Carona, Andreia; Miranda, Margarida; Vitorino, Carla; Doktorovová , Slavomíra; Fortuna, AnaPurpose: Amorphous solid dispersions (ASD) for nasal delivery offer the opportunity to increase drug release performance, while using polymers with mucoadhesive properties. The aim of the present study was to apply this solubility enhancement technique to a poorly soluble drug for nasal delivery, while comparing two particle engineering strategies, namely spray dried microparticles and chimeral agglomerates, wi...
A Stepwise Framework for the Systematic Development of Lipid Nanoparticles
Basso, João; Mendes, Maria; Cova, Tânia; Sousa, João; Pais, Alberto; Fortuna, Ana; Vitorino, Rui; Vitorino, CarlaA properly designed nanosystem aims to deliver an optimized concentration of the active pharmaceutical ingredient (API) at the site of action, resulting in a therapeutic response with reduced adverse effects. Due to the vast availability of lipids and surfactants, producing stable lipid dispersions is a double-edged sword: on the one hand, the versatility of composition allows for a refined design and tuning of...