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- Syphilis in Pregnancy: A Practical Guide for Prenatal Care Providers.Publication . Desjardins, Audrey Anne; Amaral, Eliana; Miranda, Jezid; Pasupathy, Dharmintra; Martins, Maria Luisa; Buga, Edward; Aronoff, David; Money, Deborah; Boucoiran, IsabelleSyphilis during pregnancy remains a persistent global public health challenge. Untreated or inadequately treated syphilis infection during pregnancy contributes significantly to preventable perinatal morbidity and mortality. In the last five years, a resurgence of syphilis among pregnant women in several regions has led to a concerning rise in congenital syphilis cases. Vertical transmission can occur at any point during pregnancy or delivery, with the highest risk observed during primary and secondary stages of infection compared to latent phases. To align with the World Health Organization (WHO) target of reducing the vertical transmission rate below 0.05%, the International Federation of Gynecology and Obstetrics (FIGO) has developed evidence-based guidance for the management of syphilis during pregnancy. The guidance advocates for universal early screening, strengthened health systems to ensure access to free and timely prenatal care, and the integration of effective follow-up strategies. As early diagnosis and treatment are highly effective in reducing transmission, syphilis screening should begin at the first prenatal visit. While regional protocols vary, at a minimum, screening should be repeated at delivery in countries that have not yet met WHO eradication targets. Benzathine penicillin remains the treatment of choice, with proven efficacy and safety. Additionally, screening and treatment of sexual partners are essential to prevent maternal reinfection and community transmission. Strengthening health systems to support these interventions is fundamental to improving maternal and fetal/neonatal health outcomes and advancing towards global elimination of congenital syphilis worldwide.
- Predictive Factors for PCR and Relapse Following Neoadjuvant Dual HER2-Blockade in HER2+ Breast Cancer: an International Cohort Study.Publication . Luz, Paulo; Lopes-Brás, Raquel; Pinho, Inês Soares; Patel, Vanessa; Esperança-Martins, Miguel; Gonçalves, Lisa; Gonçalves, Joana; Freitas, Rita; Simão, Diana; Galnares, Maria Roldán; Criado, Silvia Artacho; Nobre, Amanda; Medina, Elias A Gracia; Vega, Isabel M Saffie; Sousa, Rita Teixeira; Costa, Luís; Gregório, João; Costa, João G; Fernandes, Ana SPurpose: Neoadjuvant systemic therapy with dual HER2-blockade, trastuzumab and pertuzumab, combined with chemotherapy has become a standard approach in patients with HER2-positive (HER2+) breast cancer (BC). However, the variability in treatment outcomes, such as pathological complete response (pCR) or relapse rates, underscores the need to identify predictive factors to optimize therapeutic strategies. This study aims to explore the relationship between clinicopathological factors and both pCR and disease-free survival (DFS) in an international cohort of patients with HER2+ BC, contributing to defining personalized treatment strategies. Methods: An international, multicenter, retrospective cohort study was conducted, including 517 patients with HER2+ BC who received neoadjuvant therapy comprising trastuzumab, pertuzumab, and chemotherapy. Data were collected between January 2016 and December 2023. The relationship between clinicopathological factors and treatment outcomes was analyzed using univariate tests, logistic regression for pCR, and Cox proportional hazards regression for DFS. Kaplan-Meier survival curves with log-rank tests and hazard ratios were used to compare DFS across subgroups. Results: Multivariable analysis revealed that hormonal receptor (HR) expression and nodal status significantly predicted the achievement of pCR in this cohort. Factors such as age, HR status, tumor grade, Ki-67 index, nodal status, and pathological response were associated with relapse risk. Conclusion: Our real-world data demonstrates that a comprehensive approach considering pCR, age, HR status, and nodal involvement is essential for personalized treatment strategies. These factors should be taken into account when deciding whether to escalate or de-escalate treatment, contributing to improved HER2+ BC patient outcomes.
- Effect of Anticoagulation and Individualized Fluid Therapy on Graft Outcomes in Simultaneous Pancreas-Kidney Transplant Recipients.Publication . Batista, Maria E; Barbosa, Miguel; Oliveira, Pedro; Isidoro Duarte, Tiago; Casimiro, José; Cardoso, Sofia; Germano, NunoBackground Simultaneous pancreas-kidney (SPK) transplantation is the preferred treatment for type 1 diabetes mellitus with end-stage renal disease. Early graft loss, especially from pancreatic thrombosis, remains a major challenge. Optimal anticoagulation and fluid strategies are critical but not standardized. Methodology We retrospectively reviewed 64 SPK transplants in our center. Group 1 (n = 28) received liberal fluid infusion guided by urine output (>200 mL/hour) and prophylactic low-molecular-weight heparin. Group 2 (n = 36) received unfractionated heparin (UFH) infusion titrated to an activated partial thromboplastin time ratio of 1.5 and PiCCO®-guided fluid management, as a new postoperative protocol was implemented. Patient and graft characteristics and outcomes were analyzed. Results Donor and recipient baseline characteristics were comparable. We found a meaningful reduction in pancreas graft thrombosis in Group 2 (6% vs. 18%, p = 0.167), along with similar hemorrhagic complications (21% vs 28%, p = 0.187). Group 2 had higher cumulative fluid balance at 72 hours (9,704 vs. 7,436 mL, p = 0.027) and improved P/F ratio on day 3 (304 vs. 296, p = 0.033). We also documented a reduction in renal delayed graft function (11% vs. 3%, p = 0.171). A relevant increase in pancreas graft survival was seen (71% vs. 92%, p = 0.641), but renal graft survival was similar. Hospital and intensive care unit mortality was similar between the two groups. Conclusions UFH anticoagulation combined with PiCCO®-guided fluid management may reduce pancreas thrombosis and delayed renal graft function, without significantly increasing bleeding risk. A patient-specific perioperative approach could enhance SPK transplant outcomes.
- From Childhood to Adulthood: A Case of Congenital Tracheal Stenosis.Publication . Duarte, Inês; Canedo, Filipa; Pinto, Mario; Murinello, Nicole; Miguel, AntonioCongenital tracheal stenosis (CTS) is a rare and potentially life-threatening malformation, often associated with cardiovascular anomalies, such as pulmonary artery sling. We report a 20-year-old woman with a history of pulmonary artery sling surgically corrected in infancy, who presented with diffuse CTS. Early symptoms of dyspnea, wheezing, and episodes of airway obstruction prompted evaluation, and imaging with computerized tomography and flexible bronchoscopy confirmed complete tracheal rings with a lumen of 6-8 mm. Pulmonary function tests showed fixed airway obstruction and flattening of inspiratory and expiratory flow-volume curves. At 19 years, she remained symptomatic with exertional stridor but preserved exercise tolerance, and follow-up imaging demonstrated stable diffuse stenosis. Given relative clinical stability and diffuse involvement unsuitable for endoscopic intervention, conservative management with regular multidisciplinary follow-up and symptomatic therapy was pursued. This case highlights the diagnostic and therapeutic challenges of CTS in adulthood and emphasizes the importance of early recognition, functional assessment, and individualized multidisciplinary management. Further studies are needed to determine long-term outcomes and optimal surveillance strategies in adults with persistent diffuse tracheal stenosis.
- Eyelid Arteriovenous Malformation With Orbital Fistula: Literature Review and Case Report.Publication . Ludovico, Inês; Rodrigues Alves, Nuno; Neves, Tiago; Fragata, Isabel; Magriço, AnaOrbital arteriovenous malformations (AVMs) are rare entities, either congenital or acquired, that can significantly impair ocular function and aesthetics. Diagnostic evaluation requires multimodal imaging, and treatment is extremely complex, not only due to the limited information available in the literature, but also because of the high recurrence rate of the lesion, therefore requiring a multidisciplinary approach. Treatment involves a multimodal approach, often requiring AVM embolization followed by surgical excision. Endovascular embolization with agents such as ethylene-vinyl alcohol (Onyx®) or N-hexyl cyanoacrylate (Magic Glue®) should be ideally performed prior to subsequent surgical approaches. Recurrence is frequent, especially when nidus occlusion is incomplete, underscoring the importance of long-term follow-up and reintervention when necessary. We present a review of the recent literature and a clinical case of a left upper eyelid AVM associated with an orbital fistula in a young patient, managed with endovascular embolization and surgical excision.
- Familial Hypercholesterolaemia and the Risk of Cardiovascular Events.Publication . Conchinha, André; Rodrigues, Afonso; Pack, Tiago; Cunha, Sofia; Santos, AntónioFamilial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, characterised by markedly elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, which confers a substantially increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Pathogenic variants primarily occur in the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (ApoB), low-density lipoprotein receptor adaptor protein 1 (LDLRAP1), or proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis, based on clinical criteria, family history, and genetic testing, is imperative to promptly initiate aggressive therapeutic strategies. Standard treatment involves lifestyle modifications and high-intensity pharmacotherapy, primarily with statins, often in combination with ezetimibe. For patients who do not achieve their therapeutic goals or are intolerant, PCSK9 inhibitors represent a significant evolution in the treatment paradigm. In this article, we present a case of homozygous familial hypercholesterolaemia.
- Congenital Knee Dislocation: A Case Report.Publication . Afonso, Anaisa; Botelho, Gabriela; Arcangelo, Joana; Soares, Joana; Aguiar, MartaCongenital knee dislocation (CKD) is a rare musculoskeletal condition that may occur in isolation or be associated with other congenital abnormalities. Prognosis depends on the severity of the deformity and the timing of diagnosis and treatment. Comprehensive assessment and close follow‑up are essential to optimize recovery and to exclude associated anomalies. We report the case of a female newborn with CKD, diagnosed postnatally, associated with developmental dysplasia of the hip (DDH), generalized ligamentous laxity, congenital heart disease, and a chromosomal abnormality. Early conservative management, started in the first hour of life, resulted in successful reduction and complete recovery of knee mobility.
- Thickness Profile of the Ganglion Cell Complex and Choroid in Patients with Persistent Diabetic Macular Edema.Publication . Condelipes, Ana; Correia, Daniela; Fernandes, Inês; Silva, Tiago; Correia, Eduardo; Pereira, Bruno; Camacho, PedroPurpose: About 40 % of patients with diabetic macular edema (DME) do not respond optimally to first-line treatment with intravitreal injection of anti-vascular endothelial growth factor (AVEGF). Evidence suggests that additional vascular and neurodegenerative mechanisms may be involved. This study aimed to characterise the thickness of the Ganglion Cell Complex (GCC) and investigate the Choroidal Vascularity Index (CVI) in patients with different patterns of therapeutic response to AVEGF DME. Methods: This cross-sectional study included 27 diabetic patients into 3 different groups based on their response to AVEGF therapy: control group, responder DME group, and persistent DME group. The study's approach to vascular and neurodegenerative imaging biomarkers involved three steps: (1) Automatic quantification of GCC thickness, with manual correction when necessary; (2) Semi-automatic measurement of choroidal thickness; and (3) Analysis of choroidal area and choroidal luminal area using ImageJ software to calculate the CVI. Results: In the overall characterization of the sample, a significant difference was observed only in the Best Corrected Visual Acuity (BCVA). There was a significant difference in Average Retinal Thickness (1 mm, 3 mm, and 6 mm) between the 3 groups and in GCC thickness at 1 mm. BCVA was negatively correlated with mean retinal thickness, while CVI showed a potential positive correlation with BCVA. Conclusions: While demographic and general clinical characteristics showed minimal differences across the groups, important differences in GCC and choroidal characteristics were observed. GCC (1 mm) may be interesting to explore in predicting visual outcomes after treatment, and CVI may impact visual gain.
- Is Sleep a Neglected Cornerstone in Brain Health and Perioperative Medicine?Publication . Martins, Ana Margarida
- Biologic Therapies and Quality of Life in Pediatric Patients with Asthma: A Systematic Review.Publication . Vaz, Beatriz Luzio; Marrinhas, Daniel; Pereira, AnabelaBackground/Objectives: Pediatric asthma is the most prevalent chronic respiratory condition in children and adolescents worldwide and remains a major contributor to morbidity, school absenteeism, and the use of integrated healthcare services. The main goal of this systematic review is to synthesize the available evidence about the impact of biologic therapies on the quality of life in the pediatric population (children and adolescents) with asthma. Methods: This systematic review followed the PRISMA guidelines. A comprehensive search was performed across PubMed, Scopus, and Web of Science for articles published between 2015 and 2025 in English, Portuguese, or Spanish. Studies were eligible if they included pediatric patients (<18 years) with asthma receiving biologic therapies (e.g., omalizumab, mepolizumab, dupilumab) and reported health-related quality of life (HRQoL) outcomes using validated instruments. Article selection followed PICOS criteria and excluded reviews, case reports, and editorials. Risk of bias was assessed using the Mixed Methods Appraisal Tool. Results: A total of 576 articles were found and screened, and 8 studies were selected. The characteristics of the studies highlighted the involved countries, study design, number of participants, conditions, type of biologic intervention, duration, and follow-up. In addition, the importance of biologic therapies in patients' HRQoL was presented. All eight included studies reported statistically significant improvements in HRQoL using appropriate scales. Conclusions: The studies reinforced the importance of biologic therapies to improve HRQoL in both patients and families/caregivers. Implications for health promotion, in particular, greater involvement of integrated healthcare comprising health professionals, family, school contexts, and the community, are discussed.
