7 documents found, page 1 of 1
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...
Rodrigues, Diogo; Marcão, Ana; Lopes, Lurdes; Ventura, Ana; Faria, Teresa; Ferrão, Anabela; Gonçalves, Carolina; Kjöllerström, Paula; Castro, AnaThe Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...
MicroRNA-665 and its potential role in drug response and survival outcomes in m...
Bergantim, Rui; Silva, Sara Peixoto da; Pinto, Vanessa; Pereira, Joana M.; Sousa, Diana; Trigo, Fernanda; Matthiesen, Rune; Guimarães, José E.Background: Multiple myeloma (MM) is a complex hematological malignancy with heterogeneous clinical and pathophysiological backgrounds that influence treatment responses and outcomes. Identifying biomarkers to predict drug response and guide treatment decisions, particularly regarding drug combinations, is essential to improve therapeutic efficacy and patient outcomes. This study explores the role of microRNAs ...
Diagnosis and Laboratory Follow-Up of Patients with Multiple Myeloma: Guideline...
Pires, Ana Marta; Barreto, João Pedro; Caetano, Joana; Soares, Maria José; Geraldes, Catarina; Fernandes, Bruno; Coucelo, Margarida; Chacim, SérgioMultiple myeloma is a neoplasm of plasma cells that in most cases is associated with the secretion of monoclonal immunoglobulins and can involve multiple organs. Its timely diagnosis is essential to limit or avoid irreversible damage and dysfunction of target organs. Appropriate initial stratification of patients allows for optimization in the selection and sequence of therapy, as well as proper follow-up durin...
Diagnosis and laboratory follow-up of patients with multiple myeloma: guideline...
Pires, Ana Marta; Barreto, João Pedro; Caetano, Joana; Soares, Maria José; Geraldes, Catarina; Fernandes, Bruno; Coucelo, Margarida; Chacim, SérgioMultiple myeloma is a neoplasm of plasma cells that in most cases is associated with the secretion of monoclonal immunoglobulins and can involve multiple organs. Its timely diagnosis is essential to limit or avoid irreversible damage and dysfunction of target organs. Appropriate initial stratification of patients allows for optimization in the selection and sequence of therapy, as well as proper follow-up durin...
Management of Cytomegalovirus Infection in Allogeneic Hematopoietic Stem Cell T...
Silva, Fernando; Martins, António; Ferraz, Paula; Lopes, Diogo; Bastos, Juliana; Joana Araújo, Joana Araújo; Trigo, Fernanda; Pinto, RicardoCytomegalovirus (CMV) is a type of double-stranded deoxyribonucleic acid virus belonging to the herpesviridae family. Following a primary infection, the virus becomes latent in various types of white blood cells. Cytomegalovirus infection can remain latent or become active, especially in immunocompromised individuals, such as those undergoing hematopoietic stem cell transplantation (HSCT), where CMV reactivatio...
Paroxysmal nocturnal hemoglobinuria: a case report in a pandemic environment
Peixoto, Vanda; Carneiro, Ana; Trigo, Fernanda; Vieira, Mónica; Prudêncio, CristinaParoxysmal nocturnal hemoglobinuria (PNH) is a clonal, rare, complement-mediated hemolytic anemia. PNH can be associated with marrow failure and thrombophilia. We present a clinical report of splenic vein thrombosis in a patient with classic PNH. A 41-year-old male with classic PNH, naïve to complement inhibitor therapy, developed splenic vein thrombosis as a major adverse effect after vaccination protocol to p...
Multiple Myeloma Treatment Guidelines by the Portuguese Group of Multiple Myeloma
João, Cristina; Bergantim, Rui; Santos, Joana; Afonso, Celina; Bernardo, Paulo; Coelho, Henrique; Costa, Carlos; Esteves, Graça; Freitas, José GuilhermeThe treatment of multiple myeloma has profoundly changed with the introduction of several innovative therapies. The optimization of therapeutic sequencing through the combined use of the various drugs developed in recent years and the attention given to the characteristics of patients have allowed the reduction of toxicities and increased survival and quality of life of patients with multiple myeloma. These tre...