Expectativas em Relação ao Envelhecimento e Dinâmica Familiar: O suporte familiar influencia o que esperamos do envelhecimento?

O envelhecimento da população e o aumento da longevidade nas últimas décadas implica uma reconfiguração psicológica da vivência do ciclo vital com implicações na dinâmica familiar. Ao longo do seu desenvolvimento, a pessoa vai construindo expectativas em relação ao seu próprio envelhecimento. Trata-se de um construto importante do ponto de vista psicológico porque tem a ver com a forma como a pessoa se autorrepresenta, como se concetualiza na sua história, como se projeta no futuro. Os objetivos deste estudo são: (1) avaliar as expectativas em relação ao envelhecimento; (2) avaliar o suporte familiar; (3) e analisar a relação entre o suporte familiar e as expectativas em relação ao envelhecimento. Participaram no estudo 802 pessoas adultas com idades compreendidas entre os 18 e 82 anos (M= 35,12; DP= 15,67), sendo 222 do sexo masculino e 580 do sexo feminino. Esta investigação integrou-se no projeto Thinking About Ageing (TAA), tendo sido analisados os resultados obtidos com as escalas 38-item Expectations Regarding Aging survey (ERA-38), a Escala Multidimensional de Suporte Social Percebido (MSPSS) e questionários sociodemográfico e sobre funcionamento familiar. Os resultados indicaram que um maior suporte familiar e mais contacto com adultos idosos influenciam as pessoas a perspetivarem o envelhecimento de forma mais positiva. Assim, os resultados sugerem que um bom suporte familiar e o contacto intergeracional podem ser vetores de promoção de expectativas mais positivas em relação ao envelhecimento e consequentemente promotoras de um melhor processo de envelhecimento.The aging of the population and the increase in longevity in recent decades imply a psychological reconfiguration of the experience of the life cycle with implications in the family dynamics. Throughout his development, the person builds expectations in relation to his own ageing. This is an important construct from the psychological point of view because it has to do with how the person represents himself, how he conceptualizes his history, and how he projects himself into the future. The objectives of this study are: (1) to assess expectations regarding aging; (2) to assess family support; (3) and to analyse the relationship between family support and expectations regarding aging. A total of 802 adults aged 18 to 82 years (M= 35.12; SD= 15.67) participated in the study, 222 males and 580 females. This research was part of the Thinking About Aging (TAA) project, and the results obtained with the 38-item Expectations Regarding Aging survey (ERA-38), the Multidimensional Scale of Perceived Social Support (MSPSS), and sociodemographic and family functioning questionnaires were analysed. The results indicated that greater family support and more contact with older adults influence people to view aging more positively. Thus, the results suggest that good family support and intergenerational contact may be vectors promoting more positive expectations towards aging and, consequently, promoting a better aging process

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children

Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are non-obese or non-overweight. Differential diagnosis is notably important when pathologies have a specific treatment, such as for glycogenosis type IX (GSD-IX). Aims: To contribute to the knowledge on the differential diagnosis of NAFLD in paediatric age and to the clinical, biochemical, molecular, and histological characterisations of GSD-IX, a rare metabolic disorder. Methods: We performed a retrospective study of a small series of cases (n = 3) of GSD-IX diagnosed in the past 6 years, who were currently being followed up in the Units of Gastroenterology or Metabolic Diseases of the Paediatric Division of our hospital and whose clinical presentation was NAFLD in paediatric age. Results: Three male patients were diagnosed with NAFLD before 2 years of age, 2 with confirmed diagnosis before the age of 3 years (alanine aminotransferase [ALT], liver ultrasound, and molecular analysis) and 1 whose diagnosis was confirmed at 11 years (ALT, liver ultrasound, liver histology, and molecular analysis). None of the patients were obese or overweight, and the daily fructose consumption was unknown. The outcome was favourable in all 3 patients, with follow-up periods ranging from 2 to 6 years. Conclusion: The decision on how far the search for secondary causes of NAFLD should go can be difficult, and GSD-IX must be on the list of possible causes

Phenotype-Genotype Correlation in Colorectal Cancer: A Real-Life Study

Background and Aims: Colorectal cancer (CRC) is a heterogeneous disease with distinctive genetic pathways, such as chromosomal instability, microsatellite instability and methylator pathway. Our aim was to correlate clinical and genetic characteristics of CRC patients in order to understand clinical implications of tumour genotype. Methods: Single-institution retrospective cohort of patients who underwent curative surgery for CRC, from 2012 to 2014. RAS and BRAF mutations were evaluated with the real-time PCR technique Idylla®. Mismatch repair deficiency (dMMR) was characterized by absence of MLH1, MSH6, MSH2 and/or PMS2 expression, evaluated by tissue microarrays. Overall survival (OS) and disease-free survival (DFS) were assessed using survival analysis. Results: Overall, 242 patients were included (males 57.4%, age 69.3 ± 12.9 years; median follow-up 49 months). RAS-mutated tumours were associated with reduced DFS (p = 0.02) and OS (p = 0.045) in stage I–III CRC. BRAF-mutated tumours were more predominant in females and in the right colon, similarly to dMMR tumours. BRAF status did not influence OS (4 years)/DFS (3.5 years) in stage I–III disease. However, after relapse, length of survival was 3.5 months in BRAF-mutated tumours in contrast to 18.6 months in BRAF wild-type tumours (p = NS). No germline mutations in mismatch repair genes were so far identified in the patients with dMMR tumours. Molecular phenotype (RAS, BRAF and MMR) did not influence OS in metastatic patients. Our small sample size may be a limitation of the study. Conclusion: In our cohort, RAS-mutated tumours were associated with worse DFS and OS in early-stage CRC, whereas the remaining molecular variables had no prognostic influence

Potential of FX06 to prevent disease progression in hospitalized non-intubated COVID-19 patients — the randomized, EU-wide, placebo-controlled, phase II study design of IXION

Background: More than 2.7 million hospitalizations of COVID-19-infected patients have occurred in Europe alone since the outbreak of the coronavirus in 2020. Interventions against SARS-CoV-2 are still in high need to prevent admissions to ICUs worldwide. FX06, a naturally occurring peptide in humans and other mammals, has the potential to reduce capillary leak by improving endothelial dysfunction and thus preventing the deterioration of patients. With IXION, we want to investigate the potential of FX06 to prevent disease progression in hospitalized, non-intubated COVID-19 patients. Methods: IXION is an EU-wide, multicentre, placebo-controlled, double-blinded, parallel, randomized (2:1) phase II clinical study. Patient recruitment will start in September 2022 (to Q2/2023) in Germany, Italy, Lithuania, Spain, Romania, Portugal, and France. A total of 306 hospitalized patients (>= 18 years and < 75 years) with a positive SARS-CoV-2 PCR test and a COVID-19 severity of 4-6 according to the WHO scale will be enrolled. After randomization to FX06 or placebo, patients will be assessed until day 28 (and followed up until day 60). FX06 (2 x 200 mg per day) or placebo will be administered intravenously for 5 consecutive days. The primary endpoint is to demonstrate a difference in the proportion of patients with progressed/worsened disease state in patients receiving FX06 compared to patients receiving placebo. Secondary endpoints are lung function, oxygen saturation and breathing rate, systemic inflammation, survival, capillary refill time, duration of hospital stay, and drug accountability. Discussion: With IXION, the multidisciplinary consortium aims to deliver a new therapy in addition to standard care against SARS-CoV-2 for the clinical management of COVID-19 during mild and moderate stages. Potential limitations might refer to a lack of recruiting and drop-out due to various possible protocol violations. While we controlled for drop-outs in the same size estimation, recruitment problems may be subject to external problems difficult to control for