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Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.
Publication . Rebelo, Mafalda; Francisco, Telma; Perry da Câmara, Rosário; Pereira, Andreia; Iraneta, Amets; Amorim, Marta; Paiva Lopes, Maria João; Lopes da Silva, Rita; Cordeiro, Ana Isabel
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.
Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC.
Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors.
Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.
Organ Crosstalk and Dysfunction in Sepsis.
Publication . Borges, André; Bento, Luís
Sepsis is a dysregulated immune response to an infection that leads to organ dysfunction. Sepsis-associated organ dysfunction involves multiple inflammatory mechanisms and complex metabolic reprogramming of cellular function. These mechanisms cooperate through multiple organs and systems according to a complex set of long-distance communications mediated by cellular pathways, solutes, and neurohormonal actions. In sepsis, the concept of organ crosstalk involves the dysregulation of one system, which triggers compensatory mechanisms in other systems that can induce further damage. Despite the abundance of studies published on organ crosstalk in the last decade, there is a need to formulate a more comprehensive framework involving all organs to create a more detailed picture of sepsis. In this paper, we review the literature published on organ crosstalk in the last 10 years and explore how these relationships affect the progression of organ failure in patients with septic shock. We explored these relationships in terms of the heart-kidney-lung, gut-microbiome-liver-brain, and adipose tissue-muscle-bone crosstalk in sepsis patients. A deep connection exists among these organs based on crosstalk. We also review how multiple therapeutic interventions administered in intensive care units, such as mechanical ventilation, antibiotics, anesthesia, nutrition, and proton pump inhibitors, affect these systems and must be carefully considered when managing septic patients. The progression to multiple organ dysfunction syndrome in sepsis patients is still one of the most frequent causes of death in critically ill patients. A better understanding and monitoring of the mechanics of organ crosstalk will enable the anticipation of organ damage and the development of individualized therapeutic strategies.
Chronic Limb-Threatening Ischemia Under the Age of 50 – a Single-Center 12-Year Retrospective Study
Publication . Gueifão, Inês; Quintas, Anita; Soares Ferreira, Rita; Pais, Fábio; Ribeiro, Tiago; Cardoso, Joana; Fidalgo, Helena; Ferreira, Maria Emilia
INTRODUCTION: Premature peripheral artery disease (PAD), defined as occurring before or at the age of 50, is a poorly studied subset of PAD due to its low incidence. It has been associated with a higher risk of progression to chronic limb-threatening ischemia (CLTI), major adverse limb events and mortality. Etiology is multifactorial, with genetics and environmental causes at play, with the most common risk factors being smoking, diabetes, and hypertension.
METHODS: A single-center retrospective study was conducted in a Portuguese tertiary center, including all patients up to the age of 50 submitted to a revascularization procedure for CLTI from May 2011 to November 2023. The primary endpoint was a composite outcome of mortality, amputation and/or reintervention. The secondary endpoints were reintervention, amputation and mortality rates, and amputation-free survival (AFS).
RESULTS: Ninety-one patients were included (74% male, median age 48). The most common risk factors were smoking (69%), diabetes (45%) and hypertension (44%). Most patients presented as Fontaine grade IV (79%). Thirtytwo patients (35%) had aortoiliac lesions, while 38 (42%) had femoropopliteal, and 21 (23%) had infra-popliteal disease. During the median follow-up period of 7.4 years (IQR 4.3-10.3), 57 patients (63%) underwent reintervention, amputation, or died. The reintervention rate was 40%, while amputation was performed on 25% of patients, and 29% of patients died. Median AFS was 4.7 years (IQR 0.8-7.8). Subgroup analysis comparing diabetic and non-diabetic patients and endovascular vs. open surgery were performed. The 30-day amputation rate was significantly higher in diabetics (12% vs. 2%, p=.05), but there were no other significant differences in subgroup analysis.
CONCLUSION: Premature CTLI is associated with poor outcomes and high mortality rates, with most patients undergoing reintervention or amputation. Further studies are needed to identify non-traditional risk factors to improve outcomes in this young population.
A Giant Arteriovenous Malformation of the Abdominal Wall
Publication . Figueiredo, Adriana; Gueifão, Inês; Fidalgo, Helena; Tavares, Carolina; Amaral, Carlos; Ferreira, Rita; Borges, Nuno; Ferreira, Maria Emilia
INTRODUCTION: Arteriovenous Malformations (AVMs) are high-fow anomalous connections between the arterial and venous systems composed of dysplastic vessels resulting from aberrant angiogenesis. They are congenital and when symptomatic they rarely manifest before adolescence. Depending on the location, size, stage and severity of the symptoms, treatment options vary from conservative management to surgical resection. We report a case of a giant arteriovenous malformation of abdominal wall (tipe IIIb of Yakes Classifcation) treated with surgical resection after prior attempts of scleroembolization..
CLINICAL CASE: 54-year-old woman with known history of osteoarticular pathology and dyspepsia presented a mass on the left side of the abdominal wall with hard consistency, warm, slightly pulsating and tenderness to touch with several years of evolution. The mass showed infltration of the internal and external oblique muscles sparing the transverse muscle. Clinically she presented easy fatigue with efforts. Due to the risk of abdominal wall herniation after excision of the AVM, scleroembolization was considered frst-line treatment in this case. This strategy resulted in regression of the mass and symptoms improvement. Four years after the last intervention, the patient presented lesion growth, recurrence and worsening of symptoms with severe interference in the quality of life (QoL). After multidisciplinary discussion, she was proposed for complete resection of the AVM. She was frst submitted to scleroembolization with Onyx of identifed arterial afferents and sclerosis of the lesion
nidus with 2% polidocanol. One month after she underwent successfully total resection of the AVM with the collaboration of General Surgery.
CONCLUSION: No unifed agreement exists on the best treatment of these complex high fow lesions and it is diffcult to establish a comprehensive strategy given the pathology’s clinical variability, complex stratifcation and the risk of relapse. A case-by-case approach is needed in managing these types of lesions.
Mycotic Aneurysm in an Immunocompromised Patient with Pneumonia and Spondylodiscitis: Who’s Guilty?
Publication . Figueiredo, Adriana; Fidalgo, Helena; Tavares, Carolina; Gueifão, Inês; Gonçalves, Daniela; Alves, Gonçalo; Camacho, Nelson; Ferreira, Maria Emilia
BACKGROUND: Mycotic aneurysm is a rare entity with rapid progression, which can be fatal without adequate treatment. The incidence of rupture is greater than that of degenerative aneurysms and is associated with a high mortality rate.
CASE REPORT: We report the case of a 58-year-old man with a known history of HIV infection with good immunovirological staging, treated squamous cell carcinoma of the anal canal and chronic gastritis, who presented with a six-day history of intense back pain, malaise, fever, and chills. After examination, he was hospitalized with a clinical suspicion of acute pyelonephritis. During hospitalization, he was diagnosed with pneumonia of the right pulmonary base, infectious spondylodiscitis, and mycotic aneurysm of the abdominal aorta, which involved the visceral plaque. The microbiological workup revealed only positive blood cultures for Klebsiella pneumoniae. After a multidisciplinary discussion of the case and six weeks of antibiogram-oriented antibiotic therapy, the patient underwent an aorto-aortic interposition via left thoracophrenolaparotomy without the need to reimplant visceral vessels due to the patch confguration of the proximal anastomosis. The procedure was performed under left heart bypass. The postoperative course was uneventful, and the patient was discharged four weeks later. At 18 months follow-up, she remained asymptomatic and free of recurrence.
CONCLUSION: In this case, it remains to be defned whether the cause of the mycotic aneurysm was hematogenous dissemination from the identifed pneumonia or contiguity from the diagnosed spondylodiscitis. Given the morbidity and mortality associated with this entity, early diagnosis and adequate treatment with surgical correction and antibiotic therapy with suffcient duration and dose are important aspects for improving survival in these cases.