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Hematologia

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  • Anorectal Involvement in a Patient with Multiple Myeloma
    Publication . Russo, P; Tomé, AL; Capela, T; Bettencourt, MJ
    Multiple myeloma is a neoplastic proliferation of monoclonal plasma cells. Symptomatic gastrointestinal involvement is uncommon. We report the case of a 45-year-old patient admitted with an anorectal polypoid lesion, which progressed to colonic obstruction. Investigation revealed a secondary plasmacytoma associated with multiple myeloma. We discuss the characteristics of this rare entity with poor prognosis, its clinical implications and treatment options.
    2017-04-18Journal article Open access Show more
  • Bone Marrow Granulomatosis in Acute Q Fever
    Publication . Azevedo Carvalho, J; Pereira, S; Boavida, L; Gião, N; Bastos Furtado, A
    Reported cases of Q fever in people living in urban areas after occasional contact with farm animals or infected pets such as dogs and cats have been increasing. The diagnosis of Q fever is usually laborious due to unspecific and variable clinical manifestations. The most common clinical presentation is an influenza-like illness with varying degrees of pneumonia and hepatitis. Acute hepatitis is more frequent than pneumonia in countries where the disease is endemic, such as in Portugal. We report a case of acute Q fever with hepatic and bone marrow involvement presented as fever of unknown origin (FUO) in a 56-year-old sportive hunter man. Typical fibrin ring granulomas (doughnut granulomas) were found in the bone marrow biopsy and were essential for the diagnosis. Bone marrow involvement is considered a rare manifestation of Q fever. Coxiella infection activates a granulomatous inflammatory response that can lead to persistent immune cell activation. Doughnut granulomas are not pathognomonic but they are highly specific for the diagnosis of Q fever.
    2021Journal article Open access Show more
  • Candidemia in Acute Leukemia Patients
    Publication . Ribeiro, P; Botelho de Sousa, A; Aveiro, F; Nunes, O; Fernandes, JP; Gouveia, J
    Fungal infections are an important cause of morbidity and mortality in patients with acute leukemia (AL). Candidemia, once rare, is now a common nosocomial infection because of the intensity of chemotherapy, prolonged neutropenia, administration of broad-spectrum antibiotics and use of central venous catheters (CVC). We retrospectively identified patients treated for AL from 6/86 to 6/95 who also had candidemia. We describe 28 patients (incidence 6.3%) with a median age of 39 years, 24 of whom were on remission induction and 4 on postremission chemotherapy. All patients had CVC and empiric antimicrobial therapy, 4 had been given prophylactic antifungal drugs, and 2 had parenteral nutrition. Neutropenia was profound (median leukocyte nadir 200/microliters, median duration 19 days). Candida was isolated in blood cultures 10 days (median) after the start of neutropenia. The clinical presentation included fever (100%), respiratory symptoms (71.4%), skin lesions (39.2%) and septic shock (17.8%). Amphotericin B was given to 17 patients and liposomal amphotericin to 5 patients. Infection resolved in 18 patients (64.2%). 10 of whom were in complete remission. Mortality from candidemia was 17.8% (5/28). In conclusion, fungal infections are responsible for death in a significant number of patients. In our series treatment success was related to its rapid onset and to the recovery of neutropenia.
    1997Journal article Open access Show more
  • Choque Séptico Secundário a Peritonite Bacteriana Espontânea em Doente com Drepanocitose e Hepatite Auto-Imune
    Publication . Rodrigues, D; Carneiro, S; Salva, I; Oliveira, M; Estrada, J; Nóbrega, S; Campos, AP; Batalha, S; Santos, M
    Introdução: A doença de células falciformes (DCF) e a doença hepática autoimune (HAI) podem coexistir. A HAI grave pode associar-se a cirrose e ascite sendo a peritonite bacteriana espontânea (PBE) uma das complicações infeciosas mais comuns. Descrição do caso: Adolescente de 17 anos, sexo feminino, com DCF e HAI-1 em estadio cirrótico e ascite refratária, sob terapêutica imunossupressora, diuréticos, rifaximina e hidroxicarbamida. Internada por crise vaso-oclusiva para analgesia endovenosa. Em D3, por suspeita de síndrome torácico agudo, iniciou ceftriaxone e posteriormente claritromicina (D9), por agravamento clínico. Em D10 reiniciou febre e queixas álgicas com agravamento da distensão abdominal e hipotensão (TA 53/27mmHg). Analiticamente: agravamento da anemia (Hb 7.9g/dL) e dos parâmetros de infecção (25400/µL leucócitos, 84,1% neutrófilos), PCR 1 mg/dL. Administrada expansão com NaCl 0.9%, transfusão de concentrado eritrocitário e foi transferida pelo TIHP para a UCIP. Na admissão apresentava TAM 49 mmHg, distensão abdominal e sinal de onda líquida. Repetiu bólus de NaCl 0.9% e iniciou dopamina que manteve até D2, realizou transfusão/permuta (HbS pré: 60%) e albumina (D1 e D3). Realizou paracentese com saída de líquido ascítico (LA) com 1527 leucócitos/uL, 778/uL PMN, confirmando PBE. Os exames culturais (LA e sangue) foram negativos. Completou 10 dias de piperacilina-tazobactam, 7 de amicacina e 7 de teicoplanina com evolução clínica e analítica favorável. Discussão: Apresenta-se um caso de elevada complexidade. A correção do choque, diagnóstico de PBE e a antibioticoterapia precoce, associados a transfusão/permuta possibilitaram a boa evolução. O caso é paradigmático de duas doenças graves concomitantes com equilíbrio delicado.
    2018Other Open access Show more
  • Colorimetric Assessment of BCR-ABL1 Transcripts in Clinical Samples Via Gold Nanoprobes
    Publication . Vinhas, R; Correia, C; Ribeiro, P; Lourenço, A; Botelho de Sousa, A; Fernandes, A; Baptista, P
    Gold nanoparticles functionalized with thiolated oligonucleotides (Au-nanoprobes) have been used in a range of applications for the detection of bioanalytes of interest, from ions to proteins and DNA targets. These detection strategies are based on the unique optical properties of gold nanoparticles, in particular, the intense color that is subject to modulation by modification of the medium dieletric. Au-nanoprobes have been applied for the detection and characterization of specific DNA sequences of interest, namely pathogens and disease biomarkers. Nevertheless, despite its relevance, only a few reports exist on the detection of RNA targets. Among these strategies, the colorimetric detection of DNA has been proven to work for several different targets in controlled samples but demonstration in real clinical bioanalysis has been elusive. Here, we used a colorimetric method based on Au-nanoprobes for the direct detection of the e14a2 BCR-ABL fusion transcript in myeloid leukemia patient samples without the need for retro-transcription. Au-nanoprobes directly assessed total RNA from 38 clinical samples, and results were validated against reverse transcription-nested polymerase chain reaction (RT-nested PCR) and reverse transcription-quantitative polymerase chain reaction (RT-qPCR). The colorimetric Au-nanoprobe assay is a simple yet reliable strategy to scrutinize myeloid leukemia patients at diagnosis and evaluate progression, with obvious advantages in terms of time and cost, particularly in low- to medium-income countries where molecular screening is not routinely feasible. Graphical abstract Gold nanoprobe for colorimetric detection of BCR-ABL1 fusion transcripts originating from the Philadelphia chromosome.
    2016-05-25Journal article Open access Show more
  • COVID- 19 in Patients Affected by Red Blood Cell Disorders, Results From the European Registry ERN-EuroBloodNet.
    Publication . Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodríguez-Sánchez, Maria A; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardón-Cancho, Eduardo J; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthøj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J; Stiakaki, Eftichia; Van de Velde, Ann L; Diamantidis, Michael D; Kerkhoffs, Jean-Louis H; Oliveira, Marisa I; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argüello Marina, María; Lorite Reggiori, Mikael; Rijneveld, Anita W; Rodríguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Béatrice; Roy, Noémi B A; Mañú-Pereira, María Del Mar
    Background: Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry provided real-time registration of SARS-CoV- 2 patients with RBCD, promoting timely disease-specific knowledge sharing during the pandemic's early stages. Procedures: The study evaluated patient distribution, the infection across different RBCDs, and severity risk factors across similar healthcare systems, using data collected from the ERN-EuroBloodNet's REDCap platform. Results: From April 2020 to April 2023, 681 infections were recorded among 663 patients, of which 373 had transfusion-dependent thalassemia or non-transfusion-dependent thalassemia (TDT/NTDT), and 269 had sickle cell disease (SCD). SCD patients had a higher incidence of COVID- 19 than those with TDT/NTDT (10.5 vs. 4.8 COVID/100 patients). Notably, 92% of the cases were mild, with neither age nor the specific RBCD affecting severity. The number of comorbidities, notably obesity and hypertension, that patients had prior to infection was associated with more severe COVID- 19. During the infection, the presence of vaso-occlusive crises, acute chest syndrome, kidney failure, and ground-glass opacities on chest tomography scans were associated with a more severe clinical picture. The vaccination rate (32%) mirrored that of the general population and showed a protective effect against severe COVID- 19. The observed mortality rate was 0.7%, aligning with Europe's general population. Conclusion: SARS-CoV- 2 infection in SCD and TDT/NTDT patients is mild and without higher mortality than the general population. The ERN-Eurobloodnet's registry collaborative structure exemplifies the power of international cooperation in tackling rare diseases, especially during health emergencies.
    2025-04-16Text Open access Show more
  • 2009Other Open access Show more
  • 2023Journal article Open access Show more
  • A Double Philadelphia Chromosome-Positive Chronic Myeloid Leukemia Patient, Co-Expressing P210 BCR-ABL1 and P195 BCR-ABL1 Isoforms
    Publication . Vinhas, R; Lourenço, A; Santos, S; Ribeiro, P; Silva, M; Botelho de Sousa, A; Baptista, P; Fernandes, A
    2018Journal article Open access Show more
  • Enablers, Barriers and Strategies to Build Resilience Among Cancer Survivors: a Qualitative Study Protocol
    Publication . Fernandes, JB; Domingos, J; Almeida, AS; Castro, C; Simões, A; Fernandes, S; Vareta, D; Bernardes, C; Fonseca, J; Vaz, C; Dias, AR; Fernandes, T; Godinho, C
    Cancer is a life-threatening illness affecting all dimensions of a person's health. Cancer survivors must build resilience to face this adversity and continue their life projects. The present study explores the enablers, barriers, and strategies to build resilience among cancer survivors. This qualitative, descriptive exploratory study will use purposive sampling to recruit cancer survivors and healthcare professionals from two hospital centers in Lisbon and Tagus Valley. Interviews will be conducted until data saturation occurs. Data analysis will be performed using an inductive content analysis process with the help of the QDA Miner Lite database. The findings from this study will generate knowledge that may help stakeholders to identify effective strategies to build resilience among cancer survivors. By implementing strategies to foster resilience, healthcare professionals can potentially promote positive adaptations to cancer by strengthening resilience enablers and reducing the impact of barriers.
    2023Journal article Open access Show more