Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome.

Marfan syndrome (MFS) is a rare congenital disorder of the connective tissue, leading to thoracic aortic aneurysms (TAA) and dissection, among other complications. Currently, the most efficient strategy to prevent life-threatening dissection is preventive surgery. Periodic imaging applying complex techniques is required to monitor TAA progression and to guide the timing of surgical intervention. Thus, there is an acute demand for non-invasive biomarkers for diagnosis and prognosis, as well as for innovative therapeutic targets of MFS. Unraveling the intricate pathomolecular mechanisms underlying the syndrome is vital to address these needs. High-throughput platforms are particularly well-suited for this purpose, as they enable the integration of different datasets, such as transcriptomic and epigenetic profiles. In this narrative review, we summarize relevant studies investigating changes in both the coding and non-coding transcriptome and epigenome in MFS-induced TAA. The collective findings highlight the implicated pathways, such as TGF-ß signaling, extracellular matrix structure, inflammation, and mitochondrial dysfunction. Potential candidates as biomarkers, such as miR-200c, as well as therapeutic targets emerged, like Tfam, associated with mitochondrial respiration, or miR-632, stimulating endothelial-to-mesenchymal transition. While these discoveries are promising, rigorous and extensive validation in large patient cohorts is indispensable to confirm their clinical relevance and therapeutic potential.

Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age.

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel de novo COL3A1 missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding.

Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.

Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. The aim of this review is to summarize the latest MFS evidence regarding the definition, differences and similarities with other connective tissue pathologies with severe systemic phenotypes (e.g., Autosomal dominant Weill-Marchesani syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome) and clinical assessment. In this regard, the management of MFS requires a multidisciplinary team in order to accurately control the evolution of the most severe and potentially life-threatening complications. Based on recent findings in the literature and our clinical experience, we propose a multidisciplinary approach involving specialists in different clinical fields (i.e., cardiologists, surgeons, ophthalmologists, orthopedics, pneumologists, neurologists, endocrinologists, geneticists, and psychologists) to comprehensively characterize, treat, and manage MFS patients with a personalized medicine approach.

COVID-19 Vaccine Hesitancy in Italian Adults with Marfan Syndrome: Insights from a Secondary Analysis of a Cross-Sectional Study.

Although vaccine hesitancy has been reported in many patient groups and countries, there is a lack of data on vaccine hesitancy in patients with Marfan syndrome (MFS). MFS is a rare genetic disorder that can lead to cardiovascular, ocular, and musculoskeletal issues. Because MFS patients may face an increased risk of COVID-19 complications, vaccination is crucial for this population. This brief report aims to describe vaccine hesitancy rates in MFS patients and compare the characteristics of patients who are hesitant and those who are not to gain a better understanding of this specific population. This study analyzes previously published cross-sectional data that examined mental health, sociodemographic, and clinical factors associated with PTSD, depression, anxiety, and insomnia in MFS patients during the third wave of the COVID-19 pandemic in Lombardy, Italy. Of the 112 MFS patients who participated, 26 (23.9%) reported vaccine hesitancy. Vaccine hesitancy may be associated mainly with younger age and not be related to other patient characteristics. Therefore, this report found no differences in individual-level variables, such as sex, education, comorbidities, and mental health symptoms, between those who were hesitant and those who were not. The study findings are insightful and suggest that interventions to address vaccine hesitancy in this population may need to focus on attitudes and beliefs related to vaccination rather than targeting specific sociodemographic or clinical factors.

Risk factors and pooled incidence of intestinal stoma complications: systematic review and Meta-analysis.

OBJECTIVE: The present systematic review aimed to identify, critically assess and summarize which risk factors might determine the onset of ostomy complications, describing a pooled incidence and stratified incidences by each identified risk factor. METHODS: A systematic literature review with a meta-analysis of observational studies was performed by following the PRISMA statement and flow chart. The quality assessment of the included articles was performed through the Newcastle-Ottawa Scale (NOS). RESULTS: Sixteen articles published between 1990 and 2018 focused on the risk factors related to intestinal stomal complications, and the performed analysis led to identifying influenceable and non-influenceable risk factors. The median of the NOS evaluation was 6 (IQR = 5.75-6). Among 10,520 included patients, the pooled incidence of stomal complications was 35%, ranging from 9% to 63%, regardless of the nature of the complications. Analysis of the sub-groups highlighted obesity and ostomy surgery performed via laparoscopy or emergency conditions have significant incidences, respectively, of 66% and 68%. CONCLUSIONS: The pooled incidence of stomal complications requires greater attention for its relevant epidemiology. From the clinical point of view, patients with obesity and chronic conditions require more attention to prevent complications, possibly employing accurate educational interventions to enhance proper stoma management.

Lived experience of patients in ICU after cardiac surgery: A phenomenological study.

BACKGROUND: Cardiac surgery (CS) patients spend a significant amount of time in the intensive care unit (ICU). This event can be very overwhelming, with an intense emotional impact, causing vulnerability and a sense of helplessness in patients. Currently, the in-depth description of the ICU stay experience from a patient's own perspective is little studied, especially in the CS setting and using a qualitative approach in Italy. AIMS: This study aimed to describe CS patients' lived experiences. METHODS: A qualitative phenomenological study was conducted between October 2018 and December 2019 using the interpretative phenomenological analysis approach. RESULTS: Eleven patients were interviewed during the months after discharge from the ICU. Four main themes emerged from the analysis of the interviews: (a) will not wake up anymore; (b) endless time in ICU; (c) something keeps me from breathing; and (d) "anchor in the storm." Results confirm the negative experience of patients in the ICU, mainly because of the extubating procedure. Nurses were found to play a key role in decisions, supporting and protecting patients from the psychological stress related to the ICU stay. CONCLUSION: This is the first study capturing ICU patients' lived experiences after a CS intervention with the use of interpretative phenomenology in Italy. Further investigations are warranted to systematically identify which approaches or strategies are essential to support these patients in the Italian context. RELEVANCE TO CLINICAL PRACTICE: Our study's results could be useful for tailored care delivery to meet the real needs of Italian patients in the ICU after CS and, consequently, improve the quality of nursing care and patients' outcomes.

Professional values and nursing self-efficacy in the Italian context. Correlational descriptive study.

INTRODUCTION: Nurses' professional values (NPVs) and self-efficacy (SE) are two fundamental elements in nursing care that influence its professional identity, competences, resulting in changing the behaviour of professionals and their response to the patient's health needs. The various studies produced so far have not investigated a possible relationship between these two areas. Therefore, the objective of the following study is to identify and deepen the relationship between NPV and SE, in order to improve the knowledge of these issues. MATERIALS AND METHODS: An observational, correlational and multicentric study has been carried out through a questionnaire based survey. The sampling was conventional. The data collection took place through Nursing Professional Values Scale, version 3 (NPVS-3), which investigates professional values; and Nursing Professional Self-Efficacy Scale (NPSES), which investigates self-efficacy and a socio-demographic questionnaire. RESULTS: The total sample was 532 nurses and 65.6% was female, with a median age of 42 years and a median of 15 working years. Positive statistically significant correlations between the various domains of the NPVS-3 and NPSES scales were found. These relationships also emerged in the analyses between geographical areas. Overall, the relationships between self-efficacy and values were similar in all the analyses. DISCUSSION: As the professional values of nurses increase in their response to the patient's health needs, self-efficacy perceived by them increases and vice versa, significantly effecting the clinic and care outcomes of the patients and improving nursing outcomes. The stratification of the sample by geographical area regarding the relationship between age, years of work and professional values indicated that these variables strongly influence the NPV and SE of nurses. Therefore, in some contexts, more support in maintaining a stable value structure may be needed; moreover, it is necessary to incentivise nurses with more effective interventions, as an example and a basis of motivation for future generations.

What is the relations between dysgeusia and alterations of the nutritional status? A metanarrative analysis of integrative review.

BACKGROUND AND AIM: Dysgeusia is  an altered or damaged tasting perception of a multifactorial etiology, from polypharmacy, infections to chemotherapy and radiotherapy. Approximately 5% of the population suffer from a diminished taste sensation, which unfortunately remains underestimated by the affected person, creating the conditions for a dramatic underestimation of the incidence of the symptom. The aim of this study is to summarize the evidences present in literature on the relations between Dysgeusia and alterations of the nutritional status Methods: an integrative review with metanarrative analysis of the articles included was carried out in August 2020. PubMed, Scopus, Embase and CINAHL databases were examined with keywords and methodological strings. PRISMA flow-chart along with a qualitative evaluation grid (JBI-QARI) were applied in the selection of the studies with a time limitation to the last ten years. RESULTS: 10 articles resulted from the literature review process were divided into two macro-categories. Eight articles reported dysgeusia linked to weight loss. The second macro-category showed two studies relating to dysgeusia in patients with altered nutritional status associated with body weight gain. CONCLUSIONS: this review represents an initial contribution to summarize the best evidence and knowledge in relation to dysgeusia, with the aim of enabling the identification and treatment of this symptom and facilitating targeted educational interventions.