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Cerebral Cavernous Malformations: Typical and Atypical Imaging Characteristics
No full textCavernous malformations (CMs) are benign vascular malformations that maybe seen anywhere in the central nervous system. They are dynamic lesions, growing or shrinking over time and only rarely remaining stable. Size varies from a few millimeters to a few centimeters. CMs can be sporadic or familial, and while most of them are congenital, de novo and acquired lesions may also be seen. Etiology is still unknown. A genetic molecular mechanism has been proposed since a cerebral cavernous malformation gene loss of function was found in both familial and sporadic lesions. Additionally, recent studies suggest that formation of CMs in humans may be associated with a distinctive bacterial gut composition (microbioma). Imaging is fairly typical but may vary according to age, location, and etiology. Follow-up is not well established because CMs patients have a highly unpredictable clinical course. Angiogenic and inflammatory mechanisms have been implicated in disease activity, as well as lesional hyperpermeability and iron deposition. Imaging and serum biomarkers of these mechanisms are under current investigation. Treatment options, including surgery or radiosurgery, are not well defined and are dependent upon multiple factors, including clinical presentation, lesion location, number of hemorrhagic events, and medical comorbidities. Our purpose is to review the imaging features of CMs based on their size, location, and etiology, as well as their differential diagnosis and best imaging approach. New insights in etiology will be briefly considered. Follow-up strategies, including serum and imaging biomarkers, and treatment options will also be discussed.info:eu-repo/semantics/publishedVersio
Adherence to the “Atrial Fibrillation Better Care” (ABC) Pathway in Patients with Atrial Fibrillation and Cancer: a Report From the ESC-EHRA EURObservational Research Programme in Atrial Fibrillation (EORP-AF) General Long-Term Registry
No full textBackground: Implementation of the Atrial fibrillation Better Care (ABC) pathway is recommended by guidelines on atrial fibrillation (AF), but the impact of adherence to ABC pathway in patients with cancer is unknown.
Objectives: To investigate the adherence to ABC pathway and its impact on adverse outcomes in AF patients with cancer.
Methods: Patients enrolled in the EORP-AF General Long-Term Registry were analyzed according to (i) No Cancer; and (ii) Prior or active cancer and stratified in relation to adherence to the ABC pathway. The composite Net Clinical Outcome (NCO) of all-cause death, major adverse cardiovascular events and major bleeding was the primary endpoint.
Results: Among 6550 patients (median age 69 years, females 40.1%), 6005 (91.7%) had no cancer, while 545 (8.3%) had a diagnosis of active or prior cancer at baseline, with the proportions of full adherence to ABC pathway of 30.6% and 25.7%, respectively. Adherence to the ABC pathway was associated with a significantly lower occurrence of the primary outcome vs. non-adherence, both in 'no cancer' and 'cancer' patients [adjusted Hazard Ratio (aHR) 0.78, 95% confidence interval (CI): 0.66-0.92 and aHR 0.59, 95% CI 0.37-0.96, respectively]. Adherence to a higher number of ABC criteria was associated with a lower risk of the primary outcome, being lowest when 3 ABC criteria were fulfilled (no cancer: aHR 0.54, 95%CI: 0.36-0.81; with cancer: aHR 0.32, 95% CI 0.13-0.78).
Conclusion: In AF patients with cancer enrolled in the EORP-AF General Long-Term Registry, adherence to ABC pathway was sub-optimal. Full adherence to ABC-pathway was associated with a lower risk of adverse events.info:eu-repo/semantics/publishedVersio
Autoimmunity Overlaps Primary Biliary Cirrhosis: a Not Straightforward Diagnosis
No full textinfo:eu-repo/semantics/publishedVersio
Severe Asthma in the Era of COVID-19: A Narrative Review
No full textIntroduction and objectives: Severe asthma management during the coronavirus disease 2019 (COVID-19) pandemic is a challenge and will continue to be, at least in the next few months, as herd immunity is still a mirage. A lot has to be learned about how COVID-19 affects underlying diseases, and severe asthma is no exception.
Methods: Narrative review of papers available until February 2021 in PubMed and Google Scholar, relating severe asthma and COVID-19. Four main research topics were reviewed: SARS-CoV-2 infection: immunology and respiratory pathology; interrelationship of severe asthma endotypes and COVID-19 disease mechanisms; severe asthma epidemiology and COVID-19; and biologics for severe asthma in the context of COVID-19.
Results: COVID-19 disease mechanisms start with upper respiratory cell infection, and afterwards several immunological facets are activated, contributing to disease severity, namely cell-mediated immunity and antibody production. Although infrequent in the COVID-19 course some patients develop a cytokine storm that causes organ damage and may lead to acute respiratory distress syndrome or multiorgan failure. Regarding severe asthma endotypes, type2-high might have a protective role both in infection risk and disease course. There is conflicting data regarding the epidemiological relationship between COVID-19 among severe asthma patients, with some studies reporting increased risk of infection and disease course, whereas others the other way round. Biologics for severe asthma do not seem to increase the risk of infection and severe COVID-19, although further evidence is needed.
Conclusions: Globally, in the era of COVID-19, major respiratory societies recommend continuing the biologic treatment, preferably in a self-home administration program.info:eu-repo/semantics/publishedVersio
Body Composition of Infants Born with Intrauterine Growth Restriction: A Systematic Review and Meta-Analysis
No full textIntrauterine growth restriction (IUGR) may predispose metabolic diseases in later life. Changes in fat-free mass (FFM) and fat mass (FM) may explain this metabolic risk. This review studied the effect of IUGR on body composition in early infancy. Five databases and included studies from all countries published from 2000 until August 2021 were searched. Participants were IUGR or small-for-gestational age (SGA) infants, and the primary outcomes were FFM and FM. Eighteen studies met the inclusion criteria, of which seven were included in the meta-analysis of primary outcomes. Overall, intrauterine growth-restricted and SGA infants were lighter and shorter than normal intrauterine growth and appropriate-for-gestational age infants, respectively, from birth to the latest follow up. They had lower FFM [mean difference -429.19 (p = 0.02)] and FM [mean difference -282.9 (p < 0.001)]. The issue of whether lower FFM and FM as reasons for future metabolic risk in IUGR infants is intriguing which could be explored in further research with longer follow-up. This review, the first of its kind can be useful for developing nutrition targeted interventions for IUGR infants in future.info:eu-repo/semantics/publishedVersio
Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia
No full textAlthough mutation profiling of defined genes is recommended for classification of acute myeloid leukemia (AML) patients, screening of targeted gene panels using next-generation sequencing (NGS) is not always routinely used as standard of care. The objective of this study was to prospectively assess whether extended molecular monitoring using NGS adds clinical value for risk assessment in real-world AML patients. We analyzed a cohort of 268 newly diagnosed AML patients. We compared the prognostic stratification of our study population according to the European LeukemiaNet recommendations, before and after the incorporation of the extended mutational profile information obtained by NGS. Without access to NGS data, 63 patients (23%) failed to be stratified into risk groups. After NGS data, only 27 patients (10%) failed risk stratification. Another 33 patients were re-classified as adverse-risk patients once the NGS data was incorporated. In total, access to NGS data refined risk assessment for 62 patients (23%). We further compared clinical outcomes with prognostic stratification, and observed unexpected outcomes associated with FLT3 mutations. In conclusion, this study demonstrates the prognostic utility of screening AML patients for multiple gene mutations by NGS and underscores the need for further studies to refine the current risk classification criteria.info:eu-repo/semantics/publishedVersio
Hospital de Dona Estefânia Uma História de 145 anos
No full textinfo:eu-repo/semantics/publishedVersio
Management of Early Treated Adolescents and Young Adults With Phenylketonuria: Development of International Consensus Recommendations Using a Modified Delphi Approach
No full textBackground: Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited.
Methods: Two meetings were held with a multidisciplinary international panel of 25 experts in PKU and comorbidities frequently experienced by patients with PKU. Based on the outcomes of the first meeting, a set of statements were developed. During the second meeting, these statements were voted on for consensus generation (≥70% agreement), using a modified Delphi approach.
Results: A total of 37 consensus recommendations were developed across five areas that were deemed important in the management of adolescents and young adults with PKU: (1) general physical health, (2) mental health and neurocognitive functioning, (3) blood Phe target range, (4) PKU-specific challenges, and (5) transition to adult care. The consensus recommendations reflect the personal opinions and experiences from the participating experts supported with evidence when available. Overall, clinicians managing adolescents and young adults with PKU should be aware of the wide variety of PKU-associated comorbidities, initiating screening at an early age. In addition, management of adolescents/young adults should be a joint effort between the patient, clinical center, and parents/caregivers supporting adolescents with gradually gaining independent control of their disease during the transition to adulthood.
Conclusions: A multidisciplinary international group of experts used a modified Delphi approach to develop a set of consensus recommendations with the aim of providing guidance and offering tools to clinics to aid with supporting adolescents and young adults with PKU.info:eu-repo/semantics/publishedVersio
A Comprehensive Preoperative Predictive Score for Post-Hepatectomy Liver Failure After Hepatocellular Carcinoma Resection Based on Patient Comorbidities, Tumor Burden, and Liver Function: the CTF Score.
No full textBackground: Post-hepatectomy liver failure (PHLF) is a dreaded complication following liver resection for hepatocellular carcinoma (HCC) with a high mortality rate. We sought to develop a score based on preoperative factors to predict PHLF.
Methods: Patients who underwent resection for HCC between 2000 and 2020 were identified from an international multi-institutional database. Factors associated with PHLF were identified and used to develop a preoperative comorbidity-tumor burden-liver function (CTF) predictive score.
Results: Among 1785 patients, 106 (5.9%) experienced PHLF. On multivariate analysis, several factors were associated with PHLF including high Charlson comorbidity index (CCI ≥ 5) (OR 2.80, 95%CI, 1.08-7.26), albumin-bilirubin (ALBI) (OR 1.99, 95%CI, 1.10-3.56), and tumor burden score (TBS) (OR 1.06, 95%CI, 1.02-1.11) (all p < 0.05). Using the beta-coefficients of these variables, a weighted predictive score was developed and made available online ( https://alaimolaura.shinyapps.io/PHLFriskCalculator/ ). The CTF score (c-index = 0.67) performed better than Child-Pugh score (CPS) (c-index = 0.53) or Barcelona clinic liver cancer system (BCLC) (c-index = 0.57) to predict PHLF. A high CTF score was also an independent adverse prognostic factor for survival (HR 1.61, 95%CI, 1.12-2.30) and recurrence (HR 1.36, 95%CI, 1.08-1.71) (both p = 0.01).
Conclusion: Roughly 1 in 20 patients experienced PHLF following resection of HCC. Patient (i.e., CCI), tumor (i.e., TBS), and liver function (i.e., ALBI) factors were associated with risk of PHLF. These preoperative factors were incorporated into a novel CTF tool that was made available online, which outperformed other previously proposed tools