9 documents found, page 1 of 1
Immunotherapy in lung cancer brain metastases
Paisana, Eunice; Cascao, Rita; Alvoeiro, Magda; Félix, Francisco; Martins, Guilherme; Guerreiro, Carla; Roque, Rafael; Cruz, Rafael Moiteiro DaBrain metastases (BM) occur frequently in lung cancer, particularly in non-small cell lung cancer (NSCLC) patients and remain a significant cause of morbidity and mortality. Standard therapies have limited efficacy due to poor crossing of the blood-brain barrier and the distinct features between BM and the primary tumor. This review explores the immune landscape of brain metastatic disease, emerging immunothera...
Pearls & oy-sters: a challenging optic neuropathy: what not to miss in optic ne...
Vidal, Maria Isabel; Antunes, Ana Patrícia; Morgado, Carlos; Simas, Nuno; Roque, Rafael; Albuquerque, LuísaOptic neuropathies include a wide range of disorders from ischemic, toxic, demyelinating, or inflammatory processes with acute/subacute onset to more gradual compressive or genetic etiologies. Accurate clinical history and multimodality optic nerve imaging including MRI and optical coherence tomography have greatly improved the diagnosis of patients with optic neuropathies. We report a case of a woman with seve...
Histopathological characterization of cerebral small vessel disease in epilepsy...
Coelho, Pedro; Madureira, João; Franco, Ana Catarina; Peralta, Ana; Bentes, Carla; Rainha Campos, Alexandre; Anink, Jasper; Aronica, EleonoraBackground: Cerebrovascular disease (CVD) is a major contributor to epilepsy; however, patients with epilepsy also have a significantly increased risk of stroke. The way in which epilepsy contributes to the increased risk of stroke is still uncertain and is ill-characterized in neuropathological studies. A neuropathological characterization of cerebral small vessel disease (cSVD) in patients with chronic epilep...
Integrative multi-omics reveals two biologically distinct groups of pilocytic a...
Picard, Daniel; Felsberg, Jörg; Langini, Maike; Stachura, Paweł; Qin, Nan; Macas, Jadranka; Reiss, Yvonne; Bartl, Jasmin; Selt, Florian; Sigaud, RomainPilocytic astrocytoma (PA), the most common pediatric brain tumor, is driven by aberrant mitogen-activated protein kinase signaling most commonly caused by BRAF gene fusions or activating mutations. While 5-year overall survival rates exceed 95%, tumor recurrence or progression constitutes a major clinical challenge in incompletely resected tumors. Here, we used similarity network fusion (SNF) analysis in an in...
A case of trigeminal malignant melanotic nerve sheath tumor in the wide spectru...
Rachão, Augusto; Ferro, Margarida; Roque, Rafael; Rainha Campos, Alexandre; Pimentel, JoséWe report the case of a 42-year-old male, without any other personal or familiar relevant background, who was referred to a neurosurgery outpatient clinic due to a yearlong altered right facial sensitivity with paresthesia. Facial hypoesthesia in V1 and V2 divisions of the right trigeminal nerve was noticed. No other deficits were evidenced, and the remaining objective examination was unremarkable, namely for c...
Anti-HMGCR Immune-Mediated Myopathy: Literature Review Based in a Case Report
Baptista, Bernardo; Galaz Tavares, João; Marto, Natália; Bayão Horta, Alexandra; Roque, RafaelStatins are amongst the most prescribed drugs worldwide and they are generally safe. A rare but potentially serious adverse effect of statins’ therapy has been described– anti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (anti-HMGCR) immune-mediated necrotizing myopathy (IMNM) – that can occur years after the drug has beenstarted. We conducted a literature review after illustratinga typical case of anti-HMG...
Inherited myopathies in patients from Sub-Saharan Africa: results from a retros...
Oliveira, Renato; Dourado Sotero, Filipa; Coelho, Joana E; Roque, Rafael; Moreno, Teresa; Oliveira Santos, MiguelThe clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown but likely underdiagnosed due to problems of scientific research and social issues. We report a case series of patients born in SSA, evacuated to Portugal through an international health protocol and seen at a single neuromuscular disorders centre, between January/2004 and August/2021. We identified 9 patients (5 males), 35...
A 82-year-old man with an extra-axial frontal mass
Pimentel, José; Afonso, Ana; Roque, Rafael; Farias, João PauloA 82-year-old male presented with a 3-month lasting progressive cognitive deterioration, particularly regarding temporospatial orientation and short-term memory. Previous medical history included colorectal carcinoma with liver metastases, prostatic carcinoma, type 2 DM and arterial hypertension. No focal neurological signs were elicited, and a MRI scan (Figure 1A) showed an extra-axial fronto-basal tumor, with...
Predicting Outcome after Cardiopulmonary Arrest in Therapeutic Hypothermia Pati...
Maia, Bruno; Roque, Rafael; Amaral-Silva, Alexandre; Lourenço, Sónia; Bento, Luís; Alcântara, JoãoIntroduction: Predicting outcome in comatose survivors of cardiac arrest is based on data validated by guidelines that were established before the era of therapeutic hypothermia. We sought to evaluate the predictive value of clinical, electrophysiological and imaging data on patients submitted to therapeutic hypothermia. Materials and Methods: A retrospective analysis of consecutive patients receiving therapeut...