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Bilateral Orbital Metastases in Breast Cancer: Literature Review Regarding a Rare Clinical Case
No full textBilateral orbital metastases from breast cancer are a rare condition, occasionally posing as the initial presentation of an undetected primary tumor. Hormone receptor-positive (HR+)/HER2- negative (HER2-) breast cancer, particularly the lobular subtype, is a common primary source. Despite advancements in breast cancer treatment, managing orbital metastases remains challenging due to limited data and their association with advanced multi-system end-stage disease.
This study reports the first clinical case of bilateral orbital metastases as the initial presentation of bilateral breast cancer, successfully treated with a combination of a CDK4/6 inhibitor and an aromatase inhibitor. Additionally, it comprehensively reviews and analyzes clinical features, histological subtypes, treatment strategies, and outcomes associated with bilateral orbital metastases from breast cancer. The case involves a 53-year-old woman with elevated intraocular pressure and right optic
disc edema in optical coherence tomography (OCT), leading to the discovery of synchronous bilateral orbital metastases and multicentric breast nodules. These were diagnosed as metastatic HR+/HER2- breast lobular cancer, and the patient showed a remarkable response to abemaciclib and letrozole. A review of 48 patients revealed a predominantly female population (96%) with a mean age of 59 years at diagnosis. A substantial proportion (37%) had no prior cancer history at
presentation, and 65% had concomitant metastases in other anatomical sites, with 15% involving intracranial metastases. Common clinical findings included limited ocular motility (58%) and vision loss (33%). Imaging often showed infiltrating orbital soft tissues (71%), with 44% involving extraocular muscles. Histologically, most cases exhibited lobular characteristics (71%). Treatment modalities ranged from radiotherapy, chemotherapy, hormone therapy, and surgery, to immunotherapy. The overall mean survival in this cohort was 12 months (ranging from 0.5 to 41 months).
In conclusion, bilateral orbital metastases from breast cancer are a clinically challenging condition. This study highlights their clinical features and treatment outcomes, underscoring the need for innovative therapeutic approaches to enhance their generally poor prognosis. The presented case, where bilateral orbital metastases from bilateral breast cancer responded well to a CDK4/6 inhibitor and an aromatase inhibitor, introduces a promising treatment avenue. Further research is warranted to optimize management and improve overall outcomes for these patients.As metástases bilaterais da órbita no cancro da mama são uma condição rara, podendo se apresentar como a manifestação inicial de um tumor primário não detectado. O cancro da mama hormono-positivo (HR +) / HER2-negativo (HER2-), particularmente o subtipo lobular, é a origem primária mais comum. Apesar do progresso no tratamento do cancro da mama, estratégias eficazes na abordagem das metástases da órbita continuam a ser um desafio pela sua associação
com doença avançada.
Relatamos o primeiro caso clínico de metástases bilaterais da órbita como manifestação inicial de cancro da mama bilateral, eficazmente tratado com uma combinação de um inibidor de CDK4/6 e um inibidor de aromatase. Revimos e analisamos características clínicas, subtipos histológicos, estratégias
de tratamento e resultados associados a metástases bilaterais da órbita de cancro da mama. O caso envolve uma mulher de 53 anos com aumento da pressão intraocular e edema do disco ótico direito no tomografia de coerência ótica (OCT). A marcha diagnóstica culminou em carcinoma lobular metastizado da mama HR+/HER2-, tendo apresentado uma resposta marcada ao abemaciclib e ao letrozol. Uma revisão de 48 doentes revelou uma população predominantemente feminina (96%) com idade média de 59 anos. Do total dos casos, 37% não apresentavam história prévia de cancro e 65% apresentavam metástases distantes concomitantes. Limitação da motilidade ocular (58%) e perda de visão (33%) são os sinais mais comuns. Imagiologicamente, frequentemente ocorre infiltração
das partes moles (71%), com 44% envolvendo músculos extraoculares. Histologicamente, a maioria dos casos apresenta características lobulares (71%). A sobrevida média global nesta coorte foi de12 meses (variando de 0,5 a 41 meses).
Em conclusão, as metástases bilaterais da órbita em cancro da mama são uma condição desafiadora. Este estudo destaca as características clínicas e resultados de tratamento, ressaltando a necessidade de abordagens terapêuticas inovadoras para melhorar o prognóstico geralmente reservado
Impact of COVID-19 Infection on Lung Function and Nutritional Status Amongst Individuals with Cystic Fibrosis: A Global Cohort Study.
No full textBackground: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).
Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021. Forced expiratory volume in one second percent predicted (ppFEV1) and body mass index (BMI) twelve months prior to and following a diagnosis of COVID-19 were recorded. Change in mean ppFEV1 and BMI were compared using a t-test. A linear mixed-effects model was used to estimate change over time and to compare the rate of change before and after infection.
Results: A total of 6,500 cases of COVID-19 in pwCF from 33 countries were included for analysis. The mean difference in ppFEV1 pre- and post-infection was 1.4 %, (95 % CI 1.1, 1.7). In those not on modulators, the difference in rate of change pre- and post-infection was 1.34 %, (95 % CI -0.88, 3.56) per year (p = 0.24) and -0.74 % (-1.89, 0.41) per year (p = 0.21) for those on elexacaftor/tezacaftor/ivacaftor. No clinically significant change was noted in BMI or BMI percentile before and after COVID-19 infection.
Conclusions: No clinically meaningful impact on lung function and BMI trajectory in the year following infection with COVID-19 was identified. This work highlights the ability of the global CF community to unify and address critical issues facing pwCF
Diagnosis and Treatment of Secondary Hyperparathyroidism in Pre‑Dialysis Stages G3‑G4 Chronic Kidney Disease: A Specialized Survey in Portugal
No full textIntroduction: The clinical management of secondary hyperparathyroidism (SHPT) in chronic kidney disease (CKD) stages G3‑G4 patients currently faces several challenges. Although the understanding of SHPT has increased exponentially in recent years, many aspects regarding its diagnosis and management in non‑dialysis G3‑G4 CKD remain elusive. Specifically, while it is known that SHPT is linked to vitamin D insufficiency in pre‑dialysis CKD patients, the target levels of vitamin D and parathyroid hormone, SHPT, and vitamin D monitoring and therapeutic guidelines are still to be clarified. It is, consequently, of utmost importance to generate data supporting consensual clinical decision‑making and the implementation of evidence‑based clinical practice guidelines.
Methods: Thus, a single‑round Delphi‑like study was conducted herein to assess the opinions and the level of agree‑
ment of 59 Portuguese nephrologists on the diagnosis and treatment of pre‑dialysis G3‑G4 CKD patients with SHPT.
Results: Although none of the statements under analysis gathered consensus, more than half of the statements regarding SHPT monitoring and therapeutics focusing on G3‑G4 CKD achieved a qualified majority of agreement/disagreement. Overall, it may indicate a growing consensus trend among Portuguese nephrology specialists. Conversely, the heterogeneity of participants’ opinions regarding the treatment of SHPT‑associated vitamin D insufficiency reflects the heterogeneity in the knowledge in this specific field.
Conclusion: The results from this Delphi‑like panel represent a first step towards improving the monitoring and thera‑
peutic strategies concerning the prognosis of G3‑G4 CKD patients, fostering unison among the Portuguese nephrology community
When the Stomach Takes a Vacation: The Unseen Battles of Gastroparesis
No full textGastroparesis is a syndrome characterised by delayed gastric emptying that is usually idiopathic, diabetic, or iatrogenic. This underdiagnosed disease has a substantial influence on the quality of life of its patients. We present the case of an 86-year-old man with dementia, benign prostatic hyperplasia, and gastroesophageal reflux disease who developed symptoms of gastroparesis during a lengthy hospital stay. Computed tomography (CT) and upper digestive endoscopy demonstrated gastric distention and pyloric stenosis. Despite cautious treatment and eventual pyloric dilation, the patient died from aspiration due to refractory respiratory failure. This example emphasises the need for early detection and thorough examination of gastroparesis to optimise patient outcomes and reduce morbidity and mortality.info:eu-repo/semantics/publishedVersio
Os Efeitos das Variações Meteorológicas na Incidência de Vertigem Posicional Paroxística Benigna
No full textIntrodução e Objetivos: Os sintomas vestibulares estão entre os motivos de observação mais comuns
no serviço de urgência. A Vertigem Posicional Paroxística Benigna (VPPB) é um dos diagnósticos mais frequentemente observados nestes doentes e acarreta um considerável impacto nos cuidados de saúde. O nosso objetivo é avaliar a incidência semanal e sazonal da VPPB e estudar a possível relação entre a incidência da VPPB e as variações climáticas ocorridas ao longo do ano de 2021, na área metropolitana de Lisboa.
Material e Métodos: Estudo retrospetivo de doentes adultos (18 anos ou mais), com diagnóstico de VPPB
no Centro Hospitalar Universitário Lisboa Central, entre janeiro e dezembro de 2021. As variáveis
meteorológicas para o mesmo período foram recolhidas dos dados oficiais da área metropolitana de Lisboa, nomeadamente temperatura atmosférica, pressão atmosférica, humidade, nebulosidade, número de horas diárias de sol e radiação solar.
Resultados: Um total de 178 doentes foram diagnosticados com VPPB; 62 eram homens (34,8%) e 116 mulheres (65,2%). Foi encontrado um padrão sazonal na incidência de VPPB, com menor número de doentes diagnosticados com VPPB nos meses de verão (p = 0,0002). Existiu uma associação negativa e estatisticamente significativa entre a temperatura atmosférica (r = -0,5215, p = 0,000063), o número de horas de luz solar (r = -0,4024, p = 0,002847) e a radiação solar (r = -0,4463, p = 0,000817) com o número de doentes com VPPB diagnosticados por semana. Foi encontrada associação positiva e significativa entre nebulosidade e a incidência de VPPB (r = 0,537, p = 0,000034). Não foi encontrada associação estatisticamente significativa entre pressão atmosférica (r = -0,0366, p = 0,798015) ou humidade (r = 0,2525, p = 0,068707) com a incidência de VPPB.
Conclusões: A incidência da VPPB diminui nos meses de verão, quando a temperatura atmosférica, a radiação solar e o número de horas de luz solar são maiores e a nebulosidade é menor.info:eu-repo/semantics/publishedVersio
CIRSE Standards of Practice on Portal Vein Embolization and Double Vein Embolization/Liver Venous Deprivation
No full textThis CIRSE Standards of Practice document is aimed at interventional radiologists and provides best practices for performing liver regeneration therapies prior to major hepatectomies, including portal vein embolization, double vein embolization and liver venous deprivation. It has been developed by an expert writing group under the guidance of the CIRSE Standards of Practice Committee. It encompasses all clinical and technical details required to perform liver regeneration therapies, revising the indications, contra-indications, outcome measures assessed, technique and expected outcomes.info:eu-repo/semantics/publishedVersio
Outcomes and Differences by Occluded Vessel after Endovascular Thrombectomy for Isolated Medium Vessel Occlusions
No full textBackground: The outcomes of endovascular thrombectomy (EVT) for medium vessel occlusions (MeVOs) of specific vascular territories remain unknown. We aimed to investigate EVT outcomes by MeVO locations using the data from an ongoing international multicenter registry.
Methods: Patients with isolated MeVO who underwent EVT between January 2013 and December 2022 were retrospectively analyzed. Isolated MeVO was defined as an occlusion of the A2 or A3 (A2/A3), M2 or M3, and P2 or P3 (P2/P3). Outcomes included a 90-day modified Rankin score (mRS) of 0-2, successful recanalization (modified Thrombolysis in Cerebral Infarction score ≥ 2b), early neurological deterioration (END) or improvement (ENI), and 90-day mortality. END was defined as a worsening of ≥4 points from the baseline National Institutes of Health Stroke Scale (NIHSS) score within 24 h of EVT, while ENI was defined as an improvement of ≥4 points from the baseline NIHSS score within 24 h of EVT.
Results: 1744 MeVOs included. Compared to M2 occlusions (n = 1542, 88.4%), A2/A3 (n = 36, 2.1%) occlusions had lower odds of 90-day mRS 0-2 (adjusted odds ratio [aOR] 0.30, 95% confidence interval [CI] 0.11-0.80), and P2/P3 occlusions (n = 49, 2.8%) had lower odds of successful recanalization (aOR 0.19, 95% CI 0.07-0.50), and higher odds of END (aOR 3.53, 95% CI 1.35-9.25). Other outcomes showed no significant differences.
Conclusions: A2/A3 occlusions were more likely to have worse outcomes compared to M2 occlusions after EVT for patients with isolated MeVOs
Consulta Multidisciplinar de Doenças Neurocutâneas: Experiência de Cinco Anos num Hospital Pediátrico Terciário em Portugal
No full textIntroduction: 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.info:eu-repo/semantics/publishedVersio
Adenocarcinoma do pulmão: importância diagnóstica da ecocardiografia
No full textinfo:eu-repo/semantics/publishedVersio
