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Doença Cutânea Relacionada com IgG4 Tratada com Dupilumab
No full textWe present a 59-year-old male with a prolonged history of severe, treatment-resistant pruritic dermatosis and associated systemic symptoms, including fatigue and diarrhea. Dermatologic examination revealed widespread erythematous-brownish papules and nodules, prompting a skin biopsy that showed dense infiltration by immunoglobulin G4 (IgG4)-positive plasma cells, leading to a diagnosis of IgG4-related disease (IgG4-RD). The patient was treated with dupilumab, resulting in complete skin lesion resolution and significant improvement in quality of life. IgG4-RD, a rare inflammatory disease with potential multiorgan involvement, frequently challenges diagnosis due to diverse clinical presentations. This case highlights dupilumab effectiveness as a novel therapy for IgG4-RD with cutaneous involvement, offering a promising alternative for patients who do not respond well to corticosteroids.Reportamos o caso de um homem de 59 anos, com dermatose intensamente pruriginosa desde há 7 anos, refratária à terapêutica, e associada a sintomatologia sistémica como astenia e diarreia. Ao exame objetivo dermatológico, o doente apresentava pápulo-nódulos eritemato-acastanhados disseminados, o que motivou a realização de biópsia cutânea cujo exame histopatológico revelou infiltrado rico em plasmócitos IgG4-positivo. Admitido o diagnóstico de doença relacionada com IgG4 (DR-IgG4), o doente iniciou tratamento com dupilumab, com consequente resolução da dermatose e melhoria franca da sua qualidade de vida. A DR-IgG4, uma patologia inflamatória rara com potencial envolvimento multiorgânico, representa frequentemente um desafio diagnóstico pela sua hetereogeneidade clínica. Este caso clínico enaltece a eficácia do dupilumab na DR-IgG4 com envolvimento cutâneo, surgindo como uma alternativa terapêutica promissora na doença não respondedora a corticoterapia
First-Trimester Screening and Small for Gestational Age in Twin Pregnancies: a Single Center Cohort Study.
No full textObjective: This study aimed to investigate the association between maternal factors and first-trimester biophysical and biochemical markers with small for gestational age (SGA) neonates in twin pregnancies (TwPs).
Methods: Single-center retrospective cohort study of TwPs followed from January 2010 to December 2022 at a tertiary perinatal center, Portugal. Maternal and pregnancy characteristics, mean arterial pressure, pregnancy-associated plasma protein-A (PAPP-A), β-human chorionic gonadotropin (β-HCG), and uterine artery pulsatility index (UtA-PI) were analyzed. Univariable, multivariable logistic regression (LR) and receiver-operating characteristic curve analyses were performed. The main outcome measures considered were: SGA < 3rd, < 5th and < 10th percentile, the composite outcome of SGA combined with preterm birth (PTB) (< 32, < 34, and < 36 weeks).
Results: 572 TwPs were included, 450 (78.7%) DC and 122 (21.3%) MC. TwPs affected with SGA < 3rd, < 5th or < 10th percentiles were 120/572 (20.9%), 157/572 (27.4%) and 190/572 (33.2%), respectively. SGA < 3rd percentile was associated with a higher rate of PTB, 59.0% of cases < 32 weeks, OR 6.4 (95% CI: 3.2-12.7, p < 0.001). Shorter maternal height, UtA-PI ≥ 95th percentile, and low PAPP-A were identified as significant independent risk factors associated with SGA and SGA combined with PTB. The best LR model was obtained for the composite outcome SGA < 3rd percentile and PTB < 32 weeks, with an AUC of 0.834, a sensitivity rate of 77%, and a false positive rate of 17%.
Conclusion: The majority of pregnancies at risk for SGA combined with prematurity can be detected in the first trimester. However, larger datasets are necessary to develop robust predictive models
Ultrasound Monitoring of Skeletal Muscle Wasting and Relation to Nutritional Intervention in Critically Ill Patients: MUScleNut Study.
No full textBackground: Critically ill patients frequently experience profound skeletal muscle (SM) wasting, to which early detection and effective clinical management remain significant challenges. Ultrasonography (US) provides early objective information about SM compared with usual functional tests. The characteristics of the optimal nutritional support are controversial. This observational study aimed to characterize the SM changes through US in the first week after Intensive Care Unit (ICU) admission and to evaluate the potential interference factors with a focus on nutritional support.
Results: A total of 95 patients (age 55.7 ± 16.01 years, 70.5% male) were included. All the ultrasound SM measures tendentially reduced after admission: quadriceps muscle layer thickness (QMLT) 10.03% (0.38 ± 0.73 cm), rectus femoris cross-sectional area (RF-CSA) 10.48% (0.50 ± 1.38 cm2), RF pennation angle (RF-PA) 0.94 ± 4.14 º, RF echogenicity (RF-EG) 1.05 ± 22.33 in echo-intensity gray scale and RF shear wave elastography (RF-SWE) 0.13 ± 1.25 m/s and 3.96 ± 28.10 kPa. A significant association between nutritional risk at baseline and SM changes (QMLT 0.194, p = 0.079 and RF-CSA 0.25, p = 0.027) was observed and confirmed in a linear regression model (1.257 and p = 0.011). No significant associations were found between SM changes and nutritional support.
Conclusion: Present findings demonstrate a marked reduction in the SM ultrasound measures evaluated in the first week after ICU admission, mainly in patients at nutritional risk. More evidence on optimal nutritional strategies to attenuate SM wasting is warranted
The Influence of Tumor Burden Score and Lymph Node Metastasis on the Survival Benefit of Adjuvant Chemotherapy in Intrahepatic Cholangiocarcinoma.
No full textIntroduction: While postoperative adjuvant chemotherapy (AC) is generally recommended for intrahepatic cholangiocarcinoma (ICC), its benefit remains debated. This study aimed to identify patients that may benefit from AC following liver resection of ICC.
Methods: Patients who underwent liver resection for ICC between 2000 and 2023 were identified from an international multi-institutional database. Individual multivariable Cox models were used to evaluate the interaction between each prognostic factor and the effect of AC on survival.
Results: Among 1412 patients, 431 (30.5%) received AC. Both higher tumor burden score (TBS; hazard ratio [HR] 0.95, 95% confidence interval [CI] 0.91-1.00; p = 0.033) and metastatic lymph node status (HR 0.58, 95% CI 0.38-0.89; p = 0.014) demonstrated interactions with the survival benefit from receipt of AC. Interaction plots highlighted how AC was associated with improved survival beyond a TBS of approximately 6. Notably, among 555 (39.3%) patients with TBS <6 and N0 or Nx status, 5-year overall survival (OS) was no different between patients who received AC versus individuals who did not (55.1% [95% CI 48.9-62.1] vs. 58.7% [95% CI 49.8-69.2]; p = 0.900). In contrast, among 857 (60.7%) patients with TBS ≥6 or N1 status, AC was associated with improved 5-year OS (30.7% [95% CI 26.2-36.0] vs. 33.0% [95% CI 26.9-40.5]; p = 0.018).
Conclusions: TBS and lymph node status may be useful in a multidisciplinary setting to inform decisions about AC planning for ICC patients following curative-intent resection
Insights in Biomarkers Complexity and Routine Clinical Practice for the Diagnosis of Thyroid Nodules and Cancer.
No full textBackground: The differential diagnosis between benign and malignant thyroid nodules continues to be a major challenge in clinical practice. The rising incidence of thyroid neoplasm and the low incidence of aggressive thyroid carcinoma, urges the exploration of strategies to improve the diagnostic accuracy in a pre-surgical phase, particularly for indeterminate nodules, and to prevent unnecessary surgeries. Only in 2022, the 5th WHO Classification of Endocrine and Neuroendocrine Tumors, and in 2023, the 3rd Bethesda System for Reporting Thyroid Cytopathology and the European Thyroid Association included biomarkers in their guidelines. In this review, we discuss the integration of biomarkers within the routine clinical practice for diagnosis of thyroid nodules and cancer.
Methodology: The literature search for this review was performed through Pub Med, Science Direct, and Google Scholar. We selected 156 publications with significant contributions to this topic, with the majority (86, or 55.1%) published between January 2019 and March 2024, including some publications from our group during those periods. The inclusion criteria were based on articles published in recognized scientific journals with high contributions to the proposed topic. We excluded articles not emphasizing molecular biomarkers in refine the pre-surgical diagnosis of thyroid nodules.
Results: We explored genetic biomarkers, considering the division of thyroid neoplasm into BRAF-like tumor and RAS-like tumor. The specificity of BRAF mutation in the diagnosis of papillary thyroid carcinoma (PTC) is nearly 100% but its sensitivity is below 35%. RAS mutations are found in a broad spectrum of thyroid neoplasm, from benign to malignant follicular-patterned tumors, but do not increase the ability to distinguish benign from malignant lesions. The overexpression of miRNAs is correlated with tumor aggressiveness, high tumor node metastasis (TMN) stage, and recurrence, representing a real signature of thyroid cancer, particularly PTC. In addition, associations between the expression levels of selected miRNAs and the presence of specific genetic mutations have been related with aggressiveness and worse prognosis.
Conclusions: The knowledge of genetic and molecular biomarkers has achieved a high level of complexity, and the difficulties related to its applicability determine that their implementation in clinical practice is not yet a reality. More studies with larger series are needed to optimize their use in routine practice. Additionally, the improvement of new techniques, such as liquid biopsy and/or artificial intelligence, may be the future for a better understanding of molecular biomarkers in thyroid nodular disease
Prediction of Hepatocellular Carcinoma in a Portuguese Population after Hepatitis C Cure: Comparative Accuracy of Noninvasive Tests (Transient Elastography, FIB-4, and aMAP).
No full textIntroduction: Chronic infection with hepatitis C virus (HCV) causes 25% of hepatocellular carcinoma (HCC) cases worldwide, a major cause of morbimortality even after sustained virologic response (SVR). Universal screening to all patients with advanced liver fibrosis is currently recommended. A risk-based strategy could improve the detection rate of early HCC and diminish the surveillance burden. Although several risk prediction models exist, exclusion of a subgroup of patients from surveillance has not yet been recommended. The objective of this study was the comparison of the predictive accuracy of transient elastography, FIB-4, and aMAP for HCC in HCV patients after SVR in Portugal.
Methods: This was a multicentric retrospective study including patients with HCV after SVR. Comparative, univariate, multivariate, area under the ROC (receiver-operating characteristic) curve (AUC), and Youden's J-statistic analysis were performed.
Results: HCC incidence was 4.2% (1.3/100 patient-years) after a median follow-up of 31 months with inclusion of 337 patients. All patients had a liver stiffness measurement (LSM) before SVR (considered the baseline), but only 148 (43.9%) had a transient elastography after SVR. FIB-4 and aMAP post-SVR were calculated in all patients. Multiple parameters positively correlated with HCC, but only age and baseline transient elastography remained as independent predictors in the multivariate analysis. The optimal cutoffs for prediction of HCC were baseline transient elastography 13.7 kPa, post-SVR transient elastography 16.5 and 15.8 kPa (first and last measurements, respectively), FIB-4 1.6, and aMAP 58. Baseline transient elastography revealed a fair accuracy in predicting HCC (AUC 0.776, p < 0.001), with the cutoff of 13.7 kPa presenting a sensitivity of 85% and a specificity of 69%. Regarding patients who were F3-4 at baseline (n = 162), almost one-third had a baseline LSM ≤13.7 kPa (n = 51, 31.5%), an FIB-4 ≤1.6 (n = 50, 30.9%), and an aMAP score ≤58 (n = 48, 29.6%), and these cutoffs presented an NPV of 98%, 94%, and 96%, respectively, when considering HCC development.
Conclusion: Transient elastography (FibroScan) before SVR was a fair predictor of HCC, being more accurate than FIB-4 and aMAP. Transient elastography values ≤13.7 kPa at baseline, FIB-4 ≤1.6 and aMAP ≤58 were the cutoffs considered of low risk for HCC in a Portuguese cohort of HCV patients after SVR with advanced fibrosis. aMAP score is a risk-based surveillance tool that could improve the current HCC screening strategy, but further validation is needed.Introdução: A infeção crónica pelo vírus da hepatite C (VHC) causa 25% dos casos de carcinoma hepatocelular (CHC) em todo o mundo, uma causa major de morbimortalidade mesmo após a resposta virológica sustentada (RVS). Um rastreio universal a todos os doentes com fibrose hepática avançada é atualmente recomendado. Uma estratégia com base no risco poderia melhorar a taxa de deteção do CHC precoce e diminuir a carga do rastreio. Apesar de existirem diversos modelos de predição de risco, a exclusão de um subgrupo de doentes do rastreio ainda não foi recomendada. O objetivo deste estudo foi a comparação da capacidade preditiva da elastografia hepática transitória, FIB-4, e aMAP de CHC em doentes com infeção VHC após atingimento de RVS em Portugal.
Métodos: Estudo multicêntrico retrospetivo que incluiu doentes com VHC após RVS. Foram realizadas análises comparativa, univariada, multivariada, área sob a curva ROC (AUC), e estatística J de Youden.
Resultados: A incidência de CHC foi 4.2% (1.3/100 doente-anos) após um seguimento mediano de 31 meses com inclusão de 337 doentes. Todos os doentes incluídos apresentavam uma medição da rigidez hepática antes do atingimento da RVS (considerada a medição basal), mas a elastografia hepática transitória apenas foi repetida após a RVS em 148 doentes (43.9%). Os valores do FIB-4 e do aMAP no contexto pós-RVS foram possíveis de calcular em todos os doentes. Múltiplos parâmetros correlacionaram-se positivamente com o CHC, mas apenas a idade e a elastografia hepática transitória basal permaneceram como preditores independentes na análise multivariada. Os limiares ótimos para predição de CHC foram elastografia hepática transitória basal 13.7 kPa, elastografia hepática transitória basal pós-RVS 16.5 e 15.8 kPa (primeira e última medição, respetivamente), FIB-4 1.6 e aMAP 58. A elastografia hepática transitória revelou uma precisão razoável na predição de CHC (AUC 0.776, p < 0.001), com o limiar de 13.7 kPa a apresentar sensibilidade de 85% e especificidade de 69%. Relativamente aos doentes F3-F4 antes da RVS (n = 162), praticamente um terço apresentava uma elastografia hepática transitória basal ≤13.7 kPa (n = 51, 31.5%), score FIB-4 ≤1.6 (n = 50, 30.9%), e score aMAP ≤58 (n = 48, 29.6%), e estes limiares apresentaram um VPN de 98%, 94% e 96%, respetivamente, relativamente ao desenvolvimento de CHC.
Conclusão: A elastografia hepática transitória (FibroScan) pré-RVS foi um preditor razoável de CHC, sendo mais preciso que o FIB-4 e o aMAP. Valores basais de elastografia hepática transitória ≤13.7 kPa, FIB-4 ≤1.6, e aMAP ≤58 foram os limiares considerados de baixo risco para CHC numa coorte de doentes Portugueses com VHC após RVS com fibrose avançada. O score aMAP é uma ferramenta de rastreio de CHC baseada no risco que poderá melhorar a estratégia atual, mas é necessária validação adicional
Single Centre Evaluation of the Proposal of the European Society for Vascular Surgery Abdominal Aortic Aneurysm Guidelines to Stratify Surveillance after Endovascular Aortic Aneurysm Repair.
No full textObjective: The aim of this study was to evaluate and compare methods that identify patients at low risk of developing complications after endovascular aortic aneurysm repair (EVAR) and who would thus not require surveillance in the first post-operative years.
Methods: This was a retrospective, single centre, cohort study including all patients after elective infrarenal EVAR with both immediate post-operative and one year computed tomography angiography (CTA) imaging. Patients were categorised by adherence to instructions for use (IFU), adequate seal, and absence of endoleak (method A1), and without high risk features (method A2) on the first post-operative CTA. Additionally, these patients were dichotomised based on aneurysm sac shrinkage at one year (> 5 mm maximum diameter reduction, method B). Outcomes were graft related adverse events and all cause death. Negative predictive value (NPV) was used to compare risk classifications.
Results: Of 422 eligible patients, 297 underwent the required imaging for classification: 140 (47.1%) and 109 (36.7%) patients were classified as low risk based on methods A1 and A2, respectively, while 147 (49.5%) were assumed low risk based on method B. The five year cumulative incidence of adverse events in low risk patients according to method A1 was 14.7% (95% confidence interval [CI] 8.5 - 20.9%), similar to method A2 (16.1%, 95% CI 8.8 - 23.4%) and method B (15.4%, 95% CI 9.3 - 21.5%). The five year median NPV for adverse events for method A1 was 85.2% (95% CI 79.7 - 90.8%), comparable with method A2 (83.8%, 95% CI 76.9 - 90.3%; p = .37) and method B (84.7%, 95% CI 79.4 - 89.5%; p = .87). Significantly higher NPVs were found by combining method A1 or A2 with method B, with median values ≥ 95% up to four years after EVAR. The five year NPV for death did not differ between methods (five year NPVmethod A1, 81.7%, 95% CI 76.6 - 86.5%).
Conclusion: Refraining from imaging in the first five years after EVAR in patients treated within IFU and with a favourable post-operative CTA would have failed to detect important complications at an early stage. It is proposed to combine the post-operative CTA with sac shrinkage at one year in order to stratify post-EVAR surveillance. No benefit was found in considering the high risk features suggested in the European Society for Vascular Surgery (ESVS) guidelines
Body Composition Analysis in Metastatic Non-Small-Cell Lung Cancer: Depicting Sarcopenia in Portuguese Tertiary Care.
No full textSarcopenia is an emergent prognostic biomarker in clinical oncology. Albeit increasingly defined through skeletal muscle index (SMI) thresholding, the literature cut-offs fail to discern heterogeneous baseline muscularity across populations. This study assesses the prognostic impact of using cohort-specific SMI thresholds in a Portuguese metastatic non-small-cell lung cancer (mNSCLC) cohort. : Retrospective study including mNSCLC patients treated between January 2017 and December 2022. ImageJ v1.54 g was used to assess cross-sectional CT imaging at the third lumbar vertebra (L3) and calculate L3SMI. Sarcopenia was defined both according to Prado et al. and L3SMI thresholds derived from receiver operating characteristic analysis. Overall survival (OS) was the primary endpoint. Secondary endpoints included first-line (1L) progression-free survival (PFS) and sarcopenia subgroup analysis regarding body mass index impact on OS. : The initial cohort included 197 patients. Mean age was 65 years (±11.31). Most tumors were adenocarcinomas ( = 165) and presented with metastasis ( = 154). SMI was evaluable in 184 patients: cohort-specific thresholds (<49.96 cm/m for men; <34.02 cm/m for women) yielded 46.74% sarcopenic patients ( = 86) versus 66.30% ( = 122) per the literature definition. Cohort-specific thresholds predicted both OS (12.75 versus 21.13 months, hazard ratio [HR] 1.654, = 0.002) and PFS (7.92 versus 9.56 months, HR 1.503, = 0.01). Among sarcopenic patients, overweight (HR 0.417, = 0.01) and obesity (HR 2.723, = 0.039) had contrasting impacts on OS. : Amid reclassification of nearly one-fifth of the cohort, cohort-specific thresholds improved sarcopenia prognostication in mNSCLC. Homogeneity regarding both cancer treatment setting and ethnicity could be key to defining sarcopenia based on SMI
Compartment Syndrome Following Extravasation of Contrast: A Case Report.
No full textAcute compartment syndrome is a rare but serious complication of intravenous contrast extravasation, which can cause tissue ischemia and necrosis if not recognized and treated promptly. We report the case of a 56-year-old female with a history of breast cancer who developed acute compartment syndrome of the right hand and forearm after extravasation of approximately 20-30 mL of iodinated contrast agent administered via the dorsal hand during a CT scan. The patient presented with progressive swelling, pain disproportionate to injury, impaired digital perfusion, and limited mobility. Based on clinical findings, urgent surgical decompression via fasciotomy of the hand, wrist, and forearm compartments was performed with successful restoration of perfusion and function. Postoperative recovery was uneventful, although mild carpal tunnel syndrome developed on follow-up. This case highlights the importance of early recognition of intravenous contrast extravasation as a potential cause of acute compartment syndrome, especially in high-risk patients such as those with fragile veins, prior chemotherapy or obesity. Prompt diagnosis and immediate fasciotomy are crucial to prevent permanent functional impairment and severe morbidity. Awareness and vigilance among healthcare professionals administering contrast agents can improve patient outcomes through timely intervention
Algoritmos das Terapêuticas Modificadoras da Esclerose Múltipla: Posicionamento do Grupo de Estudos de Esclerose Múltipla em 2025
No full textMultiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenerative disease characterized by inflammation, demyelination, and axonal/neuronal damage in the central nervous system. In Portugal, the prevalence of MS is approximately 64.4 per 100 000 individuals. It is typically diagnosed in young adults aged 30 to 40, with a higher incidence in women, although it can also affect children/adolescents and the elderly. Recent advances in MS treatment include the development and approval of several new disease-modifying therapies (DMTs) such as ocrelizumab, cladribine, siponimod, and others, thus expanding options for relapsing-remitting MS (RRMS). However, the options for progressive forms of MS remain limited. In Portugal, MS management strategies, guided by the 2015 recommendations of the Directorate-General of Health and the Portuguese medicines agency, need updating to incorporate recent scientific evidence and clinical expertise. The aim of this manuscript is to highlight gaps in current Portuguese MS treatment algorithms and propose enhancements aligned with global standards, thus improving treatment selection and patient outcomes in the Portuguese healthcare system. Developed by nine Portuguese neurology experts from the Portuguese Multiple Sclerosis Study Group, this document not only provides evidence and clinical practice-based recommendations but also includes DMT algorithms tailored for various MS subtypes, including radiologically and clinically isolated syndromes, RRMS, progressive MS, and specific situations in MS treatment such as pediatric-onset MS, late-onset MS, pregnancy and breastfeeding. This document provides evidence- and clinical practice-based recommendations to optimize decision-making during MS management in Portuguese centers. The experts aim to prompt the urgent revision of national MS treatment frameworks, incorporating the latest advancements in MS research and international guidelines, to reduce the socio-economic burden on the national healthcare system and improve the long-term health outcomes of MS patients.A esclerose múltipla (EM) é uma doença neurodegenerativa crónica mediada por autoimunidade, caracterizada por inflamação, desmielinização e lesões axonais/neuronais no sistema nervoso central. Em Portugal, a prevalência da EM é de aproximadamente 64,4 por 100 000 indivíduos. A EM é geralmente diagnosticada em adultos jovens entre 30 e 40 anos, com maior incidência nas mulheres, embora também possa ocorrer em crianças/adolescentes e idosos. Avanços recentes no tratamento da EM incluem o desenvolvimento e aprovação de várias novas terapêuticas modificadoras da doença (TMD), como ocrelizumab, cladribina, siponimod e outras, ampliando assim as opções para a EM surto-remissão (EMSR). Contudo, as opções para as formas progressivas de EM permanecem limitadas. Em Portugal, as estratégias de gestão da EM, orientadas pelas recomendações de 2015 da Direção-Geral da Saúde e do Infarmed, carecem de urgente atualização para incorporar evidências científicas recentes e perícia clínica. Este manuscrito tem como objetivo destacar lacunas nos atuais algoritmos de tratamento da EM em Portugal e propor melhorias alinhadas com os padrões globais, melhorando a seleção de terapêuticas e os resultados dos doentes no sistema de saúde português. Desenvolvido por nove especialistas portugueses em neurologia do Grupo de Estudos de Esclerose Múltipla, este documento fornece recomendações baseadas na evidência e na prática clínica, incluin-do algoritmos de tratamento com TMD adaptados para vários subtipos de EM, incluindo síndromes clinicamente e radiologicamente isoladas, EMSR, EM progressiva e situações específicas no tratamento da EM, como EM pediátrica, EM de início tardio, e a gestão na gravidez e amamentação. Este documento oferece recomendações baseadas em evidências e práticas clínicas para otimizar a tomada de decisão durante a gestão da EM em centros portugueses. Os especialistas pretendem incentivar a revisão urgente das normas de tratamento da EM, incorporando os avanços mais recentes na pesquisa sobre a EM e nas diretrizes internacionais, com o intuito de reduzir o impacto socioeconómico no sistema de saúde nacional e melhorar os resultados de saúde de longo prazo dos doentes com EM