A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations.

Sudden cardiac death is a rare but socially devastating event, especially if occurs in young people. Usually, this unexpected lethal event occurs during or just after exercise. One of the leading causes of sudden cardiac death is inherited arrhythmogenic syndromes, a group of genetic entities characterised by incomplete penetrance and variable expressivity. Exercise can be the trigger for malignant arrhythmias and even syncope in population with a genetic predisposition, being sudden cardiac death as the first symptom. Due to genetic origin, family members must be clinically assessed and genetically analysed after diagnosis or suspected diagnosis of a cardiac channelopathy. Early identification and adoption of personalised preventive measures is crucial to reduce risk of arrhythmias and avoid new lethal episodes. Despite exercise being recommended by the global population due to its beneficial effects on health, particular recommendations for these patients should be adopted considering the sport practised, level of demand, age, gender, arrhythmogenic syndrome diagnosed but also genetic diagnosis. Our review focuses on the role of genetic background in sudden cardiac death during exercise in child and young population.

Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A, and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.

A State-of-the-Art Review on the Role of Cognitive and Motor Reserve on Quality of Life: A Focus on Cardiovascular Patients in a Lifespan Perspective.

Cardiovascular diseases (CVDs) reflect a huge and diversified condition that influences patient quality of life (QoL) both in the physical and mental aspects, especially in older adults who often present comorbidities and may be affected by cognitive decline. The concept of cognitive reserve (CR), which is built through life course experiences, has widely been considered a protective factor against cognitive decline, while the results of QoL in the field of CVDs are still controversial. In particular, there is a lack of evidence that explicitly explores the effects of CR on the QoL in CVD cases since studies have considered only single CR proxies (e.g., education) or specific cardiovascular conditions. Moreover, none of them have considered the motor reserve (MR), another recent concept that considers the amount of physical activity carried out during a lifespan. Its potential role in preventing age-related diseases has been observed, but more clarification is needed given the importance of the physical component in CVDs. The present state-of-the-art review aims to (i) examine how the literature conceives CR and its proxies in CVDs relating to QoL and (ii) integrate the concept of MR in this framework. Implications for clinical practice will also be discussed.

Predictors of Psychological Well-Being and Quality of Life in Patients with Hypertension: A Longitudinal Study.

Previous research has highlighted the positive impact of greater health-related quality of life (Hr-QoL) and subjective well-being (SWB) on chronic diseases' severity and progression. There is a paucity of studies investigating the long-term trajectories of these variables among hypertensive patients. The present study aims to investigate the relationships between psychological variables (Type A and D personality, locus of control-LoC, self-esteem, and trait anxiety) with SWB and Hr-QoL in patients with hypertension and comorbid metabolic syndrome. A total of 185 volunteer patients (130 males, 70.3%; mean age 54 ± 10.93) were enrolled. Patients filled out measures of Hr-QoL and SWB, LoC, and self-esteem at three time points-Type A and D behaviors and anxiety measures only at baseline. Analyses were run through two-level hierarchical mixed models with repeated measures (Level 1) nested within participants (Level 2), controlling for sociodemographic and clinical confounders. Neither Hr-QoL nor SWB changed over time. Patients with greater self-esteem and internal LoC (and lower external LoC) increased their SWB and Hr-QoL up to 1-year follow-up. A greater Type A behavior and trait anxiety at baseline predicted a longitudinal increase in most of the dependent variables. Results suggest that it could be useful to tailor interventions targeting specific variables to increase Hr-QoL and SWB among hypertensive patients.

Effectiveness of a tailored communication intervention to improve physical activity in hypertensive patients: a twelve-month randomized controlled trial.

BACKGROUND: Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality globally. Arterial hypertension is one of the main cardiovascular risk factors. Despite this, individuals with hypertension often fail to follow medical advice to counteract cardiovascular risks. A physically active lifestyle is one of the most challenging behaviors to adopt. This study aimed to preliminarily investigate the effectiveness of a tailored print message intervention to increase physical activity in patients with arterial hypertension. METHODS: A sample of 188 patients with hypertension (mean age = 63 years; SD = 10.9; 50% men) participated in a theory-based tailored health communication intervention. Participants were randomly assigned to three parallel groups: (1) the tailored group, which received tailored health brochures; (2) the non-tailored group, which received non-tailored health brochures; or (3) the usual care group, which received no informative print materials. The longitudinal physical activity trajectories (baseline, 6- and 12-month follow-ups) were examined using repeated measures ANOVA and growth curve models. RESULTS: At the baseline, 38.8% of patients achieved the target physical activity. This percentage rose to 43.0% at 6-month follow-up and 46.0% at 12-month follow-up. The descriptive statistics divided in function of the experimental group suggested differences in the longitudinal trend of the mean physical activity depending on the experimental group. However, statistical significance using repeated measures ANOVA did not support this observation. The analysis of the growth curves suggested that the tailored group showed a progressive increase in physical activity over twelve months (the model that best described the longitudinal trajectory was a linear growth model). The non-tailored group showed an increase in physical activity six months after the beginning of the intervention, followed by a decrease (free time score model). The usual care group did not change over time (no-growth model). CONCLUSIONS: Findings suggest the effectiveness of the tailored intervention proposed. However, further investigations and empirical confirmations are required. TRIAL REGISTRATION: ISRCTN13415993 ( https://doi.org/10.1186/ISRCTN13415993 ). Registration date: 08/04/2019.

The self and our perception of its synchrony - Beyond internal and external cognition.

The self is the core of our mental life which connects one's inner mental life with the external perception. Since synchrony is a key feature of the biological world and its various species, what role does it play for humans? We conducted a large-scale psychological study (n = 1072) combining newly developed visual analogue scales (VAS) for the perception of synchrony and internal and external cognition complemented by several psychological questionnaires. Overall, our findings showed close connection of the perception of synchrony of the self with both internal (i.e., body and cognition) and external (i.e., others, environment/nature) synchrony being associated positively with adaptive and negatively with maladaptive traits of self. Moreover, we have demonstrated how external (i.e., life events like the COVID-19 pandemic) variables modulate the perception of the self's internal-external synchrony. These findings suggest how synchrony with self plays a central role during times of uncertainty.

The representation of child-parent relation: validation of the Italian version of the child-parent relationship scale (CPRS-I).

This study proposes a psychometric validation of the Italian version of the Child-Parent Relationship Scale (CPRS) developed by Pianta in 1992. Based on attachment theory, the scale assesses parents' relationship perceptions with their own child and comprises three scales: Closeness, Conflict, and Dependency. A sample of 501 parents (188 fathers and 313 mothers) completed 30 items of the Italian version of the Child-Parent Relationship Scale (CPRS-I) online, but only 437 answered 85% of the entire protocol; hence, the analyses only focused on 437 participants. The first analysis of the original theoretical model revealed poor fit, item loadings, and internal consistency. Therefore, a follow-up analysis was conducted. Exploratory and confirmatory analyses with a split sample (EFA = 218; CFA = 219) confirmed the original three-factor structure of the Italian sample, although some items were eliminated. The validity and reliability of the Italian version of the CPRS-I were also verified by correlating the above three factors with measures of adult attachment styles and children's internalizing and externalizing behaviors. The CPRS-I showed significant correlations with all tested constructs, in line with those found by Driscoll and Pianta for the short form of the scale. Our results confirm that the CPRS-I has the same structure as the original scale; therefore, it can be a useful tool for assessing parents' perceptions of their relationship with their children. The implications for educational and clinical settings are also discussed.

Latent change models of lifestyle in acute coronary syndrome patients: Are lifestyle changes associated with resilience changes?

This study aimed to examine the role of resilience resources in patients' lifestyle changes after the first Acute Coronary event. 275 Italian patients (84.0% men; mean age = 57.5, SD = 7.9) participated in a longitudinal study. Resilience resources (Self-esteem, Dispositional Optimism, Sense of Coherence - SOC, General and Disease-specific Self-efficacy), and lifestyles (diet, physical activity, and smoking) were assessed twice (at baseline and after 6 months). Path analysis using latent change models was performed to model the combined effect of levels and changes of the resilience resources over lifestyle changes. Patients with strong SOC at baseline were less prone to smoke and more prone to decrease smoking; enhancement in SOC was associated with a smoking decrease. High Disease-specific Self-efficacy at baseline was associated with an improvement in all lifestyles; enhancement in Disease-specific Self-efficacy predicted an increase in physical activity. Findings underline the need to design psychological interventions that promote patients' Disease-specific Self-efficacy and SOC.

Quality of life changes over time and predictors in a large head and neck patients' cohort: secondary analysis from an Italian multi-center longitudinal, prospective, observational study-a study of the Italian Association of Radiotherapy and Clinical Oncology (AIRO) head and neck working group.

PURPOSE: The present study examined the longitudinal trajectories, through hierarchical modeling, of quality of life among patients with head and neck cancer, specifically symptoms burden, during radiotherapy, and in the follow-up period (1, 3, 6, and 12 months after completion of radiotherapy), through the M.D. Anderson Symptom Inventory Head and Neck questionnaire, formed by three factors. Furthermore, analyses were conducted controlling for socio-demographic as well as clinical characteristics. METHODS: Multi-level mixed-effects linear regression was used to estimate the association between quality of life and time, age, gender, household, educational level, employment status, ECOG performance status, human papilloma virus (HPV) status, surgery, chemotherapy, alcohol intake, and smoking. RESULTS: Among the 166 participants, time resulted to be a predictor of all the three questionnaire factors, namely, general and specific related symptoms and interference with daily life. Moreover, regarding symptom interference with daily activities factor, HPV-positive status played a significant role. Considering only HPV-negative patients, only time predicted patients' quality of life. Differently, among HPV-positive patients, other variables, such as gender, educational level, alcohol use, surgery, age at diagnosis, employment status, and ECOG status, resulted significant. CONCLUSION: It was evident that quality of life of patients with head and neck cancer declined during RT, whereas it slowly improved after ending treatment. Our results clarified the role of some socio-demographic and clinical variables, for instance, HPV, which would allow to develop treatments tailored to each patient.

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.

Pathogenic variants in RASA1 are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant.

Efficacy and safety of UT-DSAEK combined with Carlevale's sutureless scleral fixation IOL.

PURPOSE: To evaluate a novel surgical combination of ultrathin Descemet stripping automated endothelial keratoplasty (UT-DSAEK) and sutureless scleral fixation for Carlevale intraocular lens (SSF-Carlevale IOL) implantation to manage corneal endothelial decompensation when there is a concomitant need for secondary IOL fixation. METHODS: Clinical data collected from 10 eyes of 9 patients with bullous keratopathy (BK) who underwent combined UT-DSAEK and SSF-Carlevale IOL implantation in a single procedure were retrospectively analyzed. Anterior chamber IOL (4 cases), aphakia (4 cases, 1 of which associated with PEX), and previous trauma (2 cases) were the conditions responsible for BK. Corrected distance visual acuity (CDVA), intraocular pressure (IOP), endothelial cell density (ECD), central corneal thickness (CCT), graft thickness (GT) and complications were recorded over a 12-month follow-up period. RESULTS: In 90% (9/10) of eyes graft clarity was maintained during follow-up. The mean CDVA improved significantly (p < 0.0001) from 1.78 ± 0.76 logMAR preoperatively to 0.53 ± 0.3 logMAR at 12 months. ECD on average decreased from 2575 ± 125.3 cells/mm2 (donor tissue) to 1697 ± 133.3 cells/mm2 in 12 months. The mean CCT decreased from 870 ± 200 µm to 650 µm ± 9 at 12 months (ANOVA, p = 0.0005). CONCLUSIONS: Combined UT-DSAEK and SSF-Carlevale IOL implantation was associated with good corneal graft survival and IOP control, with few complications. These findings suggest that this surgical approach is a practical option for patients requiring both treatment for corneal endothelial dysfunction and secondary IOL implantation.

Narrative Review and Analysis of the Use of "Lifestyle" in Health Psychology.

Lifestyle is a complex and often generic concept that has been used and defined in different ways in scientific research. Currently, there is no single definition of lifestyle, and various fields of knowledge have developed theories and research variables that are also distant from each other. This paper is a narrative review of the literature and an analysis of the concept of lifestyle and its relationship to health. This contribution aims to shed light on the lifestyle construct in health psychology. In particular, the first part of this manuscript reexamines the main definitions of lifestyle in the psychological and sociological fields through three perspectives: internal, external, and temporal. The main components that characterise lifestyle are highlighted. The second part of this paper explores the main concepts of lifestyle in health, underlining their strengths and weaknesses, and proposes an alternative definition of a healthy lifestyle, which integrates the individual dimensions with the social and cycle dimensions of life. In conclusion, a brief indication of a research agenda is presented.

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.

In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as negative or non-conclusive, usually occurs in young population. In these cases, in which the cause of death is unascertained after a thorough autopsy, an underlying inherited arrhythmogenic syndrome is the main suspected cause of death. Next-generation sequencing allows a rapid and cost-effectives genetic analysis, identifying a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in young population. The first symptom of an inherited arrhythmogenic disease may be a malignant arrhythmia, and even sudden death. Early identification of a pathogenic genetic alteration associated with an inherited arrhythmogenic syndrome may help to adopt preventive personalized measures to reduce risk of malignant arrhythmias and sudden death in the victim's relatives, at risk despite being asymptomatic. The current main challenge is a proper genetic interpretation of variants identified and useful clinical translation. The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.

Attachment anxiety, reflective functioning and well-being as predictors of burn-out and psychological distress among psychotherapists: A longitudinal study.

OBJECTIVE: This study aims to longitudinally investigate the effects of individual's factors on subsequent burn-out/psychological distress in a sample of mental health practitioners, testing if higher attachment anxiety and avoidance and lower reflective functioning (i.e., certainty and uncertainty of mental states) and well-being at baseline may lead to a greater psychological distress and burn-out 1 year later. METHODS: The sample consisted of 40 experienced psychotherapists (females: 72.5%; mean age: 47.40 ± 9.48 years) who completed a battery of questionnaires at baseline and 1 year later. Statistical analyses were conducted with Bayesian multiple linear regressions. RESULTS: Greater attachment anxiety and certainty about mental states and lower individual's well-being at baseline predicted greater burn-out 1 year later. Similarly, greater attachment anxiety and lower individual's well-being at baseline predicted psychological distress at 1 year follow-up. Of note, uncertainty of mental states and avoidant attachment were not associated with outcomes. CONCLUSION: These findings suggest that the levels of burn-out and psychological distress among psychotherapists may be alleviated with interventions targeting attachment insecurity, specific aspects of reflective functioning (i.e., certainty about mental states) and well-being.

How to optimize the adherence to a guideline-directed medical therapy in the secondary prevention of cardiovascular diseases: a clinical consensus statement from the European Association of Preventive Cardiology.

A key factor to successful secondary prevention of cardiovascular disease (CVD) is optimal patient adherence to treatment. However, unsatisfactory rates of adherence to treatment for CVD risk factors and CVD have been observed consistently over the last few decades. Hence, achieving optimal adherence to lifestyle measures and guideline-directed medical therapy in secondary prevention and rehabilitation is a great challenge to many healthcare professionals. Therefore, in this European Association of Preventive Cardiology clinical consensus document, a modern reappraisal of the adherence to optimal treatment is provided, together with simple, practical, and feasible suggestions to achieve this goal in the clinical setting, focusing on evidence-based concepts.

What determines physical, mental and emotional workloads on nurses? A cross-sectional study.

AIM: This study aimed to identify determinants of physical, mental and emotional nursing workloads. BACKGROUND: Workload has a physical, mental and emotional dimension. It influences employees' well-being and quality of care. Nevertheless, studies of specific predictors for each dimension of nurses' workload are scarce. METHODS: We used a cross-sectional prospective design based on the Job Demand-Resources theory. We asked nurses to describe workload perceived at the end of every shift over three consecutive weeks. Data were gathered from two academic hospitals, in seven medical-surgical wards. We received 259 responses and tested 2 multivariate regression models. RESULTS: Physical workload was predicted from all variables tested; mental workload was determined by patient complexity or isolation, adequacy of nurse staffing and skill-mix, and unscheduled activities; and emotional workload was predicted by all variables except adequacy of staffing and other people's education. CONCLUSIONS: Patient, nurse and workflow aspects influenced nurse's shift workload differently for each specific dimension. IMPLICATIONS FOR NURSING MANAGEMENT: Measurement and definition of predictors of workload in the work environment are essential. Recognizing the determinants of specific dimensions of workload facilitates identification of the most appropriate interventions to improve nurses' well-being in health care settings.

Associations between Lifestyle Changes and Adherence to COVID-19 Restrictions in Older Adults with Hypertension.

COVID-19 has changed people's routines and imposed new ways of living. This study investigated variations in lifestyles (namely, physical activity, diet, alcohol consumption, and cigarette smoking) between the prepandemic and the pandemic period in a sample of older adults with hypertension. Moreover, it investigated predictors of adherence to government restrictions during the first lockdown period, evidencing the role of relevant sociodemographic indicators and lifestyle changes. A sample of 105 older Italian adults (M_age = 70 years; SD = 5.83) with hypertension was enrolled from a previous longitudinal study and interviewed on the phone between May and August 2020. Updated information about sociodemographic indicators and lifestyle changes was collected. Adherence to restrictions was explored through several questions regarding compliance with home confinement, facemask use, and the observance of social distancing. Results evidenced that only 33% of the respondents abided by all the national restrictions. During the first pandemic peak, considerable changes in lifestyles occurred, particularly regarding physical activity, which diminished in 70% of the sample. Women, unemployed/retired people, and individuals who decreased their amount of physical activity reported higher adherence to rules. Maintaining a healthy lifestyle over time is essential for disease prevention. Therefore, it is essential to continue to inform the population about the importance of a healthy lifestyle, and it is necessary to provide guidelines to maintain and promote it even during housebound periods.

Psychological covariates of blood pressure among patients with hypertension and metabolic syndrome.

OBJECTIVE: Previous research provides support for the role of psychosocial variables in the progression of hypertension. However, few studies have rigorously tested the longitudinal interplay between blood pressure and depressive symptoms, quality of life, and well-being. Fewer still disaggregate the effects of changes of these psychological variables within patients over time from the effects of differences between patients on essential hypertension. METHOD: A total of 185 patients with hypertension and metabolic syndrome (130 males, 70.3%; mean age 54 ± 10.93 years) volunteered for this multicentre study. We analyzed the longitudinal associations between office or daytime ambulatory blood pressure with depressive symptoms, well-being, and quality of life, measured at the same three time points (baseline and 36- and 48-week follow-up), through multilevel models and controlling for several sociodemographic and clinical factors. RESULTS: Within-person increases in depressive symptoms were significant, positive time-varying covariates of both office and daytime blood pressure, even after controlling for several potential confounders (e.g., age, sex, changes over time in risk factors for metabolic syndrome). Within-person increases in well-being and mental health components of quality of life had similar negative associations with the level of blood pressure over time. Between-person differences in these variables tended not to predict blood pressure. CONCLUSIONS: Our findings provide a deeper insight on the relationship between variability of psychological variables within individuals and their levels of blood pressure. The findings support the need for health services to implement evidence-based psychological interventions that can foster a better management of the hypertensive disease. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

The role of sense of coherence in reducing anxiety and depressive symptoms among patients at the first acute coronary event: A three-year longitudinal study.

OBJECTIVE: Although several studies suggest an association between psychological distress and increased morbidity and mortality in various cardiac populations, little is known about positive psychological resources, like Sense of Coherence (SOC), that may reduce distress. This longitudinal observational study aimed to test the hypothesis that a strong SOC predicted a longitudinal decrease in anxiety and depression in a sample of patients after their first acute coronary event. METHODS: A sample of 275 patients completed the Hospital Anxiety Depression Scale (HADS) and the SOC Scale at five time-points (at the baseline and after 6, 12, 24, and 36 months). Longitudinal trajectories of anxiety, depression, and SOC were examined through hierarchical (generalized) linear models, controlling for sociodemographic and clinical indicators. RESULTS: 38.6% of patients experienced clinically relevant anxiety symptoms soon after the cardiovascular event, whereas only 20.8% experienced clinically relevant depressive symptoms. Anxiety symptoms decreased over time, plateaued, and then slightly increased, whereas depressive symptoms tended to be stable; these variables were positively associated during all time points. The SOC did not change over time; a strong SOC at baseline predicted decreased anxiety and depression. CONCLUSION: Findings showed a strong relationship between SOC and symptoms of anxiety and depression, and they suggested the importance of a salutogenic approach in clinical practice and the relevance of interventions aimed at increasing resilience resources like the SOC in patients with cardiovascular diseases.