FM - Contribuições em Revistas Científicas / Contribution to Journals
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- Multiple myeloma laboratory diagnostics made simple: practical insights and key recommendationsPublication . Portuguese Multiple Myeloma Grp; Sousa, Maria José Rego deMultiple myeloma is a clonal plasma cell malignancy with a highly variable range of clinical manifestations. Over recent decades, substantial progress has been made in laboratory diagnostics, which has deepened our understanding of disease biology, improved risk stratification, and informed treatment strategies. In an era of transformation and innovation, conventional laboratory methods remain essential, as cutting-edge technologies might not be immediately accessible to all laboratories. Nonetheless, even widely used laboratory methodologies present many challenges, such as variability in assay performance, interpretative criteria, and standardization. This review by the Portuguese Multiple Myeloma Group of the Portuguese Society of Hematology provides a comprehensive overview and practical appraisal of current conventional laboratory methods employed for multiple myeloma diagnosis.
- Diagnosis and laboratory follow-up of patients with multiple myeloma: guidelines from the Portuguese multiple myeloma groupPublication . Pires, Ana Marta; Barreto, João Pedro; Caetano, Joana; Soares, Maria José; Geraldes, Catarina; Fernandes, Bruno; Coucelo, Margarida; Chacim, Sérgio; Coelho, Henrique; Correia, Cecília; Cruz, Ana Paula; Cunha, Manuel; Cunha, Maria Rosário; Cunha, Nuno; Ferraz, Patrícia; Freitas, José Guilherme; Henrique, Rui; Lisboa, Susana; Lúcio, Paulo; Paiva, Artur; Pedrosa, Cláudia; Ramos, Inês; Sarmento, Ana Bela; Seabra, Patrícia; Sevilha, Joana; Sousa, Maria José Rego de; Sousa, Sara; Sousa, Teresa; Tavares, Márcio; Trigo, Fernanda; Bergantim, Rui; Roque, Adriana; João, CristinaMultiple 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 during treatment and monitoring, impacting survival. These laboratory guidelines from the Portuguese Multiple Myeloma Group provide recommendations for the diagnosis and laboratory follow-up of patients with multiple myeloma. The follow-up and diagnosis of patients with other clinically significant monoclonal gammopathies were not included in this text. This article was based on international guidelines, scientific publications, and the experience of a panel of specialists in clinical and laboratory fields dedicated to the study and treatment of multiple myeloma.
- To silence or to stabilize: that is the questionPublication . Augusto, João Bicho
- Neuromyotonia and CASPR2 antibodies: electrophysiological clues to disease pathophysiologyPublication . Moura, João; Antenucci, Pietro; Coutinho, Ester; Bhatia, Kailash P.; Rocchi, Lorenzo; Latorre, AnnaContactin-associated protein-like 2 (CASPR2) is a transmembrane protein of the neurexin superfamily, essential for clustering voltage-gated potassium channels, particularly Kv1, at the juxtaparanodal regions of myelinated axons. This precise localisation is essential for maintaining normal axonal excitability and preventing aberrant signal propagation. Autoantibodies targeting CASPR2 have been associated with various neurological syndromes, notably peripheral nerve hyperexcitability (PNH), which presents clinically with neuromyotonia and myokymia. PNH is characterised by distinctive electrophysiological findings, including neuromyotonic discharges, myokymic discharges, and afterdischarges, which provide diagnostic value and insight into underlying pathophysiology. This review explores the mechanisms of anti-CASPR2-associated PNH, focusing on how antibody-mediated disruption of Kv1 channel clustering leads to altered axonal excitability. Current evidence suggests that both the distal and proximal segments of the axon are sites of pathological activity, where impairments in action potential termination and re-entry prevention result in spontaneous, repetitive discharges. While afterdischarges likely originate within the axon, the precise location—whether in the alpha-motoneuron soma or axon—is uncertain. The involvement of spinal inhibitory circuits has also been proposed, though it remains speculative. Understanding the neurophysiological features of anti-CASPR2-associated PNH is essential for improving diagnostic accuracy and guiding treatment strategies. Further research is needed to clarify the mechanisms of CASPR2-related hyperexcitability.
- Deciphering the mechanisms: pathophysiology of migraine-related cognitive dysfunctionPublication . Fernandes, Catarina; Gil-Gouveia, RaquelMigraine is increasingly understood as a disorder of brain network dysfunction, where attack-related cognitive symptoms (attention deficits, slowed processing speed and executive dysfunction) can be as disabling as pain and may persist into the interictal period. Such symptoms are associated with functional and structural changes across the migraine cycle, involving the prefrontal cortex, thalamus, hypothalamus, hippocampus and cerebellum. Interictal deficits in working memory, visuospatial processing, verbal fluency and executive function are also documented. Rodent models show impairments in learning and memory, while humans studies suggest that cortical hyperresponsiveness and deficient sensory habituation contribute to altered attentional processing, reflecting thalamocortical dysfunction and abnormal synaptic plasticity as underlying mechanisms. Cognitive performance is modulated by disease severity, chronification, hormonal fluctuations, psychiatric comorbidities, sleep disturbances and medication use. Anxiety, depression and sleep disorders negatively affect working memory, executive function and attention, while medication overuse further impairs visuospatial skills and orientation. Dementia risk appears heightened in migraine patients with frequent and severe attacks, as clinic-based studies consistently report cognitive deficits in this cohorts, unlike population-based studies. While longitudinal cohorts find no increased dementia risk, meta-analyses suggest a modest risk elevation. Differences are likely due to methodological differences in cognitive testing and diagnostic approaches. Cognitive dysfunction in migraine is multidimensional, involving intrinsic neuronal mechanism and external modulators, supporting the need for rational management strategies and treatment interventions.
- Intraindividual optic nerve sheath variation and intracranial pressure changes: a systematic review and meta-analysisPublication . Azevedo, Henrique; Neto, Lia Lucas; Berhanu, DavidBackground and Purpose: To review the existing evidence on multiple timepoint assessments of optic nerve sheath diameter (ONSD) as an indicator of intraindividual variation of intracranial pressure (ICP). Methods: A systematic search identified studies assessing intraindividual variation in ICP through multiple timepoint measurements of ONSD using ultrasonography. Meta-analysis of studies assessing intraindividual correlation coefficients between ONSD and ICP was performed using a random effects model, and we calculated the weighted correlation coefficient for the expected change in ICP associated with variations in ONSD. Results: A total of five studies, comprising 157 patients, were included in the review. ONSD was compared with invasive ICP measurement methods at multiple timepoints. Meta-analysis of intraindividual ONSD–ICP correlation demonstrated a correlation coefficient of 0.62 (CI: 0.50–0.71). Individual linear correlation analyses were performed in two of the studies, yielding correlation coefficients ranging from 0.79 to 1.00; however, widely variable individual slopes were found (1.51–41.43 mm/mmHg). ONSD variations ranged from 0.12 to 3.30 mm per 5 mmHg change in ICP, with a variation of 0.55 mm in adults with hypoxic brain injury and 0.77 mm in children with idiopathic intracranial hypertension. Conclusions: Our findings indicate that ONSD significantly correlates with ICP, and longitudinal intraindividual assessment shows a predominantly linear correlation between both variables. A personalized ONSD–ICP correlation equation may enable accurate ICP prediction, making ONSD a useful tool for follow-up in patients with previous invasive ICP measurements, when adjusted to each patient's characteristics and pathologies.
- Bringing hope to improve treatment in pancreatic ductal adenocarcinoma - a new tool for molecular profiling of KRAS mutations in tumor and plasma samplesPublication . Bravo, Ana Catarina; Morão, Bárbara; Luz, André; Dourado, Rúben; Oliveira, Beatriz; Guedes, Ana; Moreira-Barbosa, Catarina; Fidalgo, Catarina; Mascarenhas-Lemos, Luís; Costa-Santos, Maria Pia; Maio, Rui; Paulino, Jorge; Baptista, Pedro Viana; Fernandes, Alexandra R.; Cravo, MaríliaBackground/Objectives: Pancreatic ductal adenocarcinoma (PDAC) incidence is rising, and prognosis remains poor due to late diagnosis and limited effective therapies. Currently, patients are treated based on TNM staging, without molecular tumor characterization. This study aimed to validate a technique that combines the amplification refractory mutation system (ARMS) with high-resolution melting analysis (HRMA) for detecting mutations in codon 12 of KRAS in tumor and plasma, and to assess its prognostic value. Methods: Prospective study including patients with newly diagnosed PDAC with tumor and plasma samples collected before treatment. Mutations in codon 12 of KRAS (G12D, G12V, G12C, and G12R) were detected using ARMS–HRMA and compared to Sanger sequencing (SS). Univariate and multivariate analyses were used to evaluate the prognostic significance of these mutations. Results: A total of 88 patients, 93% with ECOG-PS 0–1, 57% with resectable disease. ARMS–HRMA technique showed a higher sensitivity than SS, both in tumor and plasma (77% vs. 51%; 25 vs. 0%, respectively). The most frequent mutation was G12D (n = 32, 36%), followed by G12V (n = 22, 25%). On multivariate analysis, patients with G12D and/or G12C mutations, either in tumor or plasma, had lower PFS (HR 1.792, 95% CI 1.061–3.028, p = 0.029; HR 2.081, 95% CI 1.014–4.272, p = 0.046, respectively) and lower OS (HR 1.757, 95% CI 1.013–3.049, p = 0.045; HR 2.229, 95% CI 1.082–4.594, p = 0.030, respectively). Conclusions: ARMS–HRMA is a rapid and cost-effective method for detecting KRAS mutations in PDAC patients, offering the potential for stratifying prognosis and guiding treatment decisions. The presence of G12D and G12C mutations in both tumor and plasma is associated with a poorer prognosis.
- Understanding PTSD in Portuguese youth: predictors and risk factors in a multi-clinic, treatment-engaged samplePublication . Barroca, Inês; Pinto, Inês; Carvalho, Paula SaraivaIntroduction: Posttraumatic stress disorder (PTSD) in childhood and adolescence is common. Studies have focused on a small group of predictors related to the traumatic event and still focus on the adult population. Objective: To explore the prevalence of PTSD and to identify factors that potentially increase the risk for the development of PTSD in a clinical sample of children and adolescents. Eligibility criteria included: experienced at least one traumatic event; age between 7 and 18 years; follow-up period of at least 1 month. Data collection was achieved by using: clinical records to obtain the patients’ clinical data; the Clinician-Administered PTSD Scale and the Checklist of Potentially Traumatic Events in Children and Adolescents. Results: A total of 101 participants were included. The prevalence of PTSD was 35.6%. For pre-traumatic factors, significant association was found for age (p = 0.033), suggesting increased likelihood of PTSD for older participants. Regarding the type of event, PTSD was significantly associated with interpersonal events (p = 0.001). Participants who were a single intervenient (involved person) had increased odds for PTSD (p = 0.036). It was found that the association with PTSD, in a decreasing manner, occurred with dissociative symptoms, followed by symptoms of Group C (avoidance), Group B (intrusive thoughts), Group E (activation and reactivity) and Group D (cognitions and mood). Dissociative symptoms were significantly associated with PTSD (p = 0.001). Conclusion: The study provides evidence that several factors can predict the development of PTSD in childhood and adolescence. Awareness about these factors, healthcare workers’ specific training, and prevention and intervention strategies are the foundation to promote child well-being throughout life.
- The persistent burden of rheumatic heart disease in AfricaPublication . Ferreira, Hilaryano da Silva; Morais, Humberto
- Breaking free from prognostic paralysis in chronic advanced diseasesPublication . Neto, Isabel Galriça; Sarmento, Teresa; Bruera, Eduardo