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Epiphyseal separation of the proximal humerus in a preterm newborn

Rodrigues, Sara; Reis Monteiro, Diana; M. Cunha, Rosário; Casais, Inês; Silva, Sandra; Santos, Mafalda

Introduction: Epiphyseal separation of the proximal humerus at birth is a rare injury and its diagnosis can be challenging. Case report: A 28-week preterm newborn was delivered by emergency cesarean section. After a difficult extraction, the newborn presented with ecchymosis and swelling of the right shoulder and internal rotation of the right upper arm. Although the initial radiograph suggested shoulder disloc...


Limping child

Capela, Joana Brígida Conceição; Oliveira, José Ricardo; Pinto, Mariana Sá; Santos, Mafalda

Kohler’s disease is a rare osteochondrosis in children resulting from avascular necrosis of the navicular bone. The most common clinical signs are midfoot pain associated with limping, difficulty with weight bearing, and localized edema. Diagnosis requires the presence of symptoms associated with radiographic changes of the foot, namely flattening of the navicular bone with irregular bone sclerosis and sometime...


Study of the contribution of modulators of iron homeostasis in heart failure

Matias, Ana; Santos, Mafalda; Aguia, Laura; Mascarenhas, Mário Rui; Barbosa, Mário; Melício, Ana; Menezes Falcão, Luiz; Faustino, Paula; Manuel, Bicho

Introduction: Heart failure (HF) is considered one of the biggest public health problems, affecting 2% of the world's population. Is defined as a clinical syndrome due to a structural and/or functional abnormality of the heart that results in elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. It can be influenced by several genetic modulators, in particular genes re...


Cytokine Release Syndrome in Oncologic Patients Treated with CAR-T

Marques, Rafael; Oura, Maria João; Santos, Mafalda

The field of immunotherapy and its exponential growth as a therapeutic option against cancer, in particular through the novel therapy using chimeric antigen receptor T (CAR-T), unravels the need to expand knowledge related to its toxicities. Cytokine release syndrome and the neurotoxicity associated with CAR-T therapy are the two most frequent conditions and are not only potentially fatal but also difficult to ...


DiGeorge Syndrome: Facial Dysmorphia as a Key for Diagnosis

Freitas, Ana Raquel; Sousa, Elsa; Leal Loureiro, José; Santos, Mafalda



A Rare Cause of Neck Pain and Torticollis

Bernardo Ferreira, Ana; Costa Sousa, Henrique; Costa, Miguel; Santos, Mafalda


Upregulation of tRNA-Ser-AGA-2-1 promotes malignant behavior in normal bronchia...

Santos, Mafalda; Fidalgo, Ana; Varanda, Ana Sofia; Soares, Ana Raquel; Almeida, Gabriela M.; Martins, Diana; Mendes, Nuno; Oliveira, Carla

Serine tRNAs (tRNASer) are frequently overexpressed in tumors and associated with poor prognosis and increased risk of recurrence in breast cancer. Impairment of tRNA biogenesis and abundance also impacts proteome homeostasis, and activates protein quality control systems. Herein, we aimed at testing whether increasing tRNASer abundance could foster tumor establishment through activation of the UPR. In order to...




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