CM_SHC_Artigos publicados em revistas indexadas na Pubmed/Medline
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- Aggressive Neuroblastoma in a Pediatric Patient with Severe Hemophilia APublication . Costa, Lídia; Couto, Maria Eduarda; Moutinho, Juliana; Ferreira, Ana Maia; Costa, Emilia; Roncon, Susana; Santos, Luisa Lopes; Cruz, Eugénia; Morais, SaraDespite the extensive information regarding hemophilia's hemorrhagic complications, the literature on cancer in hemophilia is scarce, especially in pediatric patients. Many uncertainties remain concerning diagnosis and workup. We report a rare case of two severe diseases (neuroblastoma and hemophilia A (HA)) concomitantly present in the same pediatric patient. We highlight that the diagnosis of severe HA did not have a negative impact on the patient's oncologic course. This case also illustrates the significance of the cooperation among different specialties and hospitals when caring for the same patient.
- Predictors of Lower Depression Levels in Older Adults During COVID-19 LockdownPublication . Bohn, Lucimere; Gomes, Sérgio; Neto, Elzier Sampaio de Queiroz; Lage, Ana Carolina Silveira de Souza; de Freitas, Maria das Dores Bezerra; Magalhães, Fabíola de Paula; Mota, Jorge; Soares-Miranda, LBackground: Social distancing during the COVID-19 pandemic may lead to adverse mental health consequences, such as depression, among older adults. This study aimed to investigate the predictors of lower depression scores in older adults living under lockdown. Methods: 1,123 older Brazilian adults were cross-sectionally assessed for depression, physical activity (PA), pet ownership (dogs, cats, and birds), ability to make video calls, leaving home during lockdown, and not living alone. The statistical procedures included linear regression and analysis of covariance (ANCOVA). Results: After adjusting for age, sex, and race, moderate to vigorous PA (β = -0.014, p < .001), it was found that PA (β = -0.905, p < .001) and dog ownership (β = -0.545, p = .004) were associated with lower depression. No association was observed between depression and other conditions. Conclusions: With the likelihood of subsequent COVID-19 waves, remotely delivered PA programs might be a strategy to counteract the negative psychological effects of lockdown on older adults.
- Guidelines on COVID-19 Vaccine Induced Thrombosis, Bleeding, and ThrombocytopeniaPublication . Morais, Sara; Cruz, EugéniaAfter widespread vaccination with COVID-19 vaccines, there have been worldwide reports on thrombosis, bleeding, and thrombocytopenia. Recently, a rare syndrome with a high mortality rate consisting of an unusual combination of thrombocytopenia and thrombosis, in particular cerebral venous sinus thrombosis, which clinically resembles heparin-induced thrombocytopenia, was reported following vaccination. Different statements and recommendations were developed regarding the definition, diagnosis, and treatment of these rare complications. We present here a protocol with recommendations, based on current evidence.
- The mediator role of unmet needs on quality of life in myeloma patientsPublication . Pereira, M. G.; Vilaça, M.; Pereira, M.; Ferreira, G.; Monteiro, S.; Coelho, H.; Geraldes, C.; Gonçalves, C.; da Costa, F. Leal; Marques, H.; Bacalhau, R.Purpose: The diagnosis of multiple myeloma (MM) has a significant impact on patients. This study analyzed the mediating role of patients' unmet needs in the relationship between psychological morbidity/social support and quality of life (QoL). Methods: This study included 213 patients with MM recruited from the outpatient medical oncology and clinical hematology services from five hospitals. Patients who meet the study criteria were referred by physicians and invited to participate in the study by the researcher. All participants answered the following questionnaires: Hospital Anxiety and Depression Scale, Satisfaction with Social Support Scale, Short-Form Survivor Unmet Needs Survey, and The European Organization for Research and Treatment of Cancer's Multiple Myeloma Module. Descriptive statistics, bivariate correlations, and structural equation modeling were performed to analyze the data. Results: The indirect effect of psychological morbidity on patients' future perspectives (MYFP) was partially mediated by information unmet needs (INF), while the indirect effect of psychological morbidity on treatment side effects (MYSE) was partially mediated by relationship and emotional unmet needs (REH). In turn, the indirect effect of psychological morbidity on disease symptoms (MYDS) was fully mediated by REH. Social support had an indirect effect on MYDS and MYSE fully mediated by REH. Conclusion: Intervention programs tailored to promote MM patients' QoL should specifically address information and emotional needs, raising awareness and training health professionals, caregivers, and family members to attend MM patients' unmet needs.
- Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometryPublication . Lima, MargaridaParoxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder caused by somatic mutations in the PIG-A gene, leading to the production of blood cells with absent or decreased expression of glycosylphosphatidylinositol-anchored proteins, including CD55 and CD59. Clinically, PNH is classified into three variants: classic (hemolytic), in the setting of another specified bone marrow disorder (such as aplastic anemia or myelodysplastic syndrome) and subclinical (asymptomatic). PNH testing is recommended for patients with intravascular hemolysis, acquired bone marrow failure syndromes and thrombosis with unusual features. Despite the availability of consensus guidelines for PNH diagnosis and monitoring, there are still discrepancies on how PNH tests are carried out, and these technical variations may lead to an incorrect diagnosis. Herein, we provide a brief historical overview of PNH, focusing on the laboratory tests available and on the current recommendations for PNH diagnosis and monitoring based in flow cytometry.
- αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrumPublication . Morais, Sara; Oliveira, Jorge; Lau, Catarina; Pereira, Mónica; Gonçalves, Marta; Monteiro, Catarina; Gonçalves, Ana; Matos, Rui; Sampaio, Marco; Cruz, Eugénia; Freitas, Inês; Santos, Rosário; Lima, MargaridaBackground: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia. Objectives: To describe a series of patients with familial macrothrombocytopenia and decreased expression of αIIbβ3 integrin due to defects in the ITGA2B or ITGB3 genes. Methods: We reviewed the clinical and laboratory records of 10 Portuguese families with GTLS (33 patients and 11 unaffected relatives), including the functional and genetic defects. Results: Patients had absent to moderate bleeding, macrothrombocytopenia, low αIIbβ3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on αIIbβ3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP. Evidence for constitutive αIIbβ3 activation, occurred in 2 out of 9 patients from 8 families studied, but also in 2 out of 12 healthy controls. We identified 7 missense variants: 3 in ITGA2B (5 families), and 4 in ITGB3 (5 families). Three variants (αIIb: p.Arg1026Trp and p.Arg1026Gln and β3: p.Asp749His) were previously reported. The remaining (αIIb: p.Gly1007Val and β3: p.Thr746Pro, p.His748Pro and p.Arg760Cys) are new, expanding the αIIbβ3 defects associated with GTLS. The integration of the clinical and laboratory data allowed the identification of two GTLS subgroups, with distinct disease severity. Conclusions: Previously reported ITGA2B and ITGB3 variants related to thrombocytopenia were clustered in a confined region of the membrane-proximal cytoplasmic domains, the inner membrane clasp. For the first time, variants are reported at the outer membrane clasp, at the transmembrane domain of αIIb, and at the membrane distal cytoplasmic domains of β3. This is the largest single-center series of inherited macrothrombocytopenia associated with αIIbβ3 variants published to date.
- Human Peripheral Blood Gamma Delta T Cells: Report on a Series of Healthy Caucasian Portuguese Adults and Comprehensive Review of the LiteraturePublication . Fonseca, Sónia; Pereira, Vanessa; Lau, Catarina; Teixeira, Maria dos Anjos; Bini-Antunes, Marika; Lima, MargaridaGamma delta T cells (Tc) are divided according to the type of Vδ and Vγ chains they express, with two major γδ Tc subsets being recognized in humans: Vδ2Vγ9 and Vδ1. Despite many studies in pathological conditions, only a few have quantified the γδ Tc subsets in healthy adults, and a comprehensive review of the factors influencing its representation in the blood is missing. Here we quantified the total γδ Tc and the Vδ2/Vγ9 and Vδ1 Tc subsets in the blood from 30 healthy, Caucasian, Portuguese adults, we characterized their immunophenotype by 8-color flow cytometry, focusing in a few relevant Tc markers (CD3/TCR-γδ, CD5, CD8), and costimulatory (CD28), cytotoxic (CD16) and adhesion (CD56) molecules, and we examined the impacts of age and gender. Additionally, we reviewed the literature on the influences of race/ethnicity, age, gender, special periods of life, past infections, diet, medications and concomitant diseases on γδ Tc and their subsets. Given the multitude of factors influencing the γδ Tc repertoire and immunophenotype and the high variation observed, caution should be taken in interpreting "abnormal" γδ Tc values and repertoire deviations, and the clinical significance of small populations of "phenotypically abnormal" γδ Tc in the blood.
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndromePublication . Sims, Matthew C; Mayer, Louisa; Collins, Janine H; Bariana, Tadbir K; Megy, Karyn; Lavenu-Bombled, Cecile; Seyres, Denis; Kollipara, Laxmikanth; Burden, Frances S; Greene, Daniel; Lee, Dave; Rodriguez-Romera, Antonio; Alessi, Marie-Christine; Astle, William J; Bahou, Wadie F; Bury, Loredana; Chalmers, Elizabeth; Da Silva, Rachael; De Candia, Erica; Deevi, Sri V V; Farrow, Samantha; Gomez, Keith; Grassi, Luigi; Greinacher, Andreas; Gresele, Paolo; Hart, Dan; Hurtaud, Marie-Françoise; Kelly, Anne M; Kerr, Ron; Le Quellec, Sandra; Leblanc, Thierry; Leinøe, Eva B; Mapeta, Rutendo; McKinney, Harriet; Michelson, Alan D; Morais, Sara; Nugent, Diane; Papadia, Sofia; Park, Soo J; Pasi, John; Podda, Gian Marco; Poon, Man-Chiu; Reed, Rachel; Sekhar, Mallika; Shalev, Hanna; Sivapalaratnam, Suthesh; Steinberg-Shemer, Orna; Stephens, Jonathan C; Tait, Robert C; Turro, Ernest; Wu, John K M; Zieger, Barbara; Kuijpers, Taco W; Whetton, Anthony D; Sickmann, Albert; Freson, Kathleen; Downes, Kate; Erber, Wendy N; Frontini, Mattia; Nurden, Paquita; Ouwehand, Willem H; Favier, Remi; Guerrero, Jose AGray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow (BM) fibrosis. Due to the rarity of GPS, it has been difficult to fully understand the pathogenic processes that lead to these clinical sequelae. To discern the spectrum of pathologic features, we performed a detailed clinical genotypic and phenotypic study of 47 patients with GPS and identified 32 new etiologic variants in NBEAL2. The GPS patient cohort exhibited known phenotypes, including macrothrombocytopenia, BM fibrosis, megakaryocyte emperipolesis of neutrophils, splenomegaly, and elevated serum vitamin B12 levels. Novel clinical phenotypes were also observed, including reduced leukocyte counts and increased presence of autoimmune disease and positive autoantibodies. There were widespread differences in the transcriptome and proteome of GPS platelets, neutrophils, monocytes, and CD4 lymphocytes. Proteins less abundant in these cells were enriched for constituents of granules, supporting a role for Nbeal2 in the function of these organelles across a wide range of blood cells. Proteomic analysis of GPS plasma showed increased levels of proteins associated with inflammation and immune response. One-quarter of plasma proteins increased in GPS are known to be synthesized outside of hematopoietic cells, predominantly in the liver. In summary, our data show that, in addition to the well-described platelet defects in GPS, there are immune defects. The abnormal immune cells may be the drivers of systemic abnormalities such as autoimmune disease.
- Manifestações Cutâneas nas Mastocitoses: AtualizaçãoPublication . Ferreira, Sandra; Fernandes, Iolanda; Cabral, Renata; Machado, Susana; Lima, Margarida; Selores, ManuelaIntrodução: As mastocitoses caraterizam-se pela expansão clonal de mastócitos, com acumulação de mastócitos morfológica e imunofenotipicamente anormais em diferentes órgãos. A pele é o órgão mais frequentemente envolvido. Virtualmente, todas as crianças e mais de 80% dos adultos com mastocitose apresentam lesões cutâneas. Material e Métodos: O presente artigo descreve os sinais e sintomas associados à mastocitose na pele, tendo por base a revisão das normas de orientação de consenso internacionais, recentemente publicadas. Discussão: De acordo com a classificação proposta pela Organização Mundial de Saúde em 2016, a mastocitose divide-se em mastocitose cutânea, mastocitose sistémica e sarcoma de mastócitos. A mastocitose cutânea pode subdividir-se em três subtipos: a mastocitose cutânea maculopapular (também denominada urticária pigmentosa), mastocitose cutânea difusa e mastocitoma cutâneo. A telangiectasia macular eruptiva perstans já não é considerada uma entidade independente. Conclusão: As manifestações cutâneas da mastocitose são variáveis, dependendo da idade de início da doença. Recentemente a classificação da mastocitose cutânea foi atualizada. Nas crianças, a mastocitose ocorre como mastocitose cutânea que tende à regressão espontânea durante a adolescência. Quando tem início na idade adulta, a mastocitose é geralmente sistémica, sendo a forma mais frequente a mastocitose sistémica indolente, que normalmente também cursa com manifestações cutâneas e tem um curso crónico.
- HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological SystemPublication . Porto, Graça; Cruz, Eugénia; Teles, M.; de Sousa, MariaThe HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leukocyte antigens (HLA). The availability of a good genetic marker in subjects homozygous for the C282Y variant in HFE (hereditary Fe), the reliability in serum markers such as transferrin saturation and serum ferritin, plus the establishment of noninvasive methods for the estimation of hepatic iron overload, all transformed hemochromatosis into a unique age related disease where prevention became the major goal. We were challenged by the finding of iron overload in a 9-year-old boy homozygous for the C282Y HFE variant, with two brothers aged 11 and 5 also homozygous for the mutation. We report a 20 year follow-up during which the three boys were seen yearly with serial determinations of iron parameters and lymphocyte counts. This paper is divided in three sections: Learning, applying, and questioning. The result is the illustration of hemochromatosis as an age related disease in the transition from childhood to adult life and the confirmation of the inextricable link between iron overload and the cells of the immune system.