Fabry disease cardiomyopathy: A state-of-the-art review.

Fabry disease or Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA), leading to systemic accumulation of globotriaosyl-ceramide (Gb3). Initially described in 1898 as a dermatological condition, Fabry disease is now recognized as a progressive multisystem disorder with significant cardiac involvement. Cardiomyopathy in Fabry disease arises from Gb3 accumulation in cardiac tissue, resulting in structural changes such as fibrosis and left ventricular hypertrophy (LVH), and functional impairments including diastolic dysfunction and heart failure.

BLUEPRINT PERSONA AND INFORMATION AND COMMUNICATION TECHNOLOGY INTERVENTIONS: ADDRESSING UNMET NEEDS IN BURNING MOUTH SYNDROME CARE.

Objectives: This study aimed to create a Blueprint Persona for Burning Mouth Syndrome (BMS) patients, focusing on Unmet needs that digital solutions can address.

Methods: An interdisciplinary focus group formulated the BMS Blueprint Persona by discussing clinical data and survey results regarding education, informatics skills, and perceived unmet needs, collected from 500 BMS patients between 2022 and 2023.

Results: The BMS Blueprint Persona, named Anna, represents a typical BMS patient profile: a young-old woman with limited computer skills who experiences anxiety, depression, and insomnia, has memory issues leading to medication adherence challenges, is obese due to overeating, and spends much time watching TV at home.

Triglyceride-glucose index threshold for cardiovascular mortality in hypertensive individuals - URRAH project.

Aims: The triglyceride-glucose (TyG) index is a surrogate marker of insulin resistance (IR). Data regarding this topic is constantly increasing, however, few and heterogeneous data are available on the relationship between this index and cardiovascular mortality risk in hypertensive populations. In this context, we aimed to explore the relationship between TyG and cardiovascular mortality in a large sample of hypertensive individuals from the URRAH cohort.

Mitochondrial accumulation of GRK2 as a protective mechanism against hypoxia-induced endothelial dysfunction.

Hypoxia, a condition characterized by a temporary lack of oxygen, causes mitochondrial damage, which in turn leads to endothelial dysfunction. G-protein-coupled receptor kinase 2 (GRK2) plays a key role in vascular homeostasis and remodeling, influencing endothelial function through various pathways. GRK2 moves within the cellular compartments and is linked to mitochondrial function and biogenesis, promoting ATP production and protecting against oxidative stress and cell death.

Digital interventions for weight control to prevent obesity in adolescents: a systematic review.

Background: Obesity is a common, serious, and costly chronic disease of adults and children that poses serious long-term health risks. Recent global estimates from the World Health Organization (WHO) show that the number of adolescents living with overweight or obesity is now increasing in low- and middle-income countries, particularly in urban settings. Health interventions using information technology (IT), especially diet and activity tracking, can lead to significant reductions in weight status.

Virtual reality solution to promote adapted physical activity in older adults: outcomes from VR2Care project exploratory study.

Background: Insufficient physical activity is one of the leading risk factors for death worldwide. Regular exercise can improve physical performance and quality of life, reduce the risks of falls and depressive symptoms, and reduce the likelihood of cognitive decline in older adults. Virtual reality (VR) and serious games (SG) are promising tools to improve physical and cognitive functioning.

A Digital-Health Program Based on Comprehensive Geriatric Assessment for the Management of Older People at Their Home: Final Recommendations from the MULTIPLAT_AGE Network Project.

Background: The MULTIPLAT_AGE is a network project which developed a digital platform based on the Comprehensive Geriatric Assessment (CGA) for collecting data and identifying personalized healthcare programs for older people at home. In this article, the final recommendations of the MULTIPLAT_AGE Working Group are reported.

Methods: The MULTIPLAT_AGE project included five independent studies developed and carried out by five research centers according to two common principles previously shared by the researchers: (i) the multidimensional approach to older people through the CGA-based Multidimensional Prognostic Index (MPI); (ii) the use of a common web-based platform for collecting data to facilitate healthcare interventions of older people at their home according to the aging in place approach.

Evolution of Cardiac Damage Staged With Echocardiography in Fabry Disease.

Background: Fabry disease can be classified in 4 stages based on the extent of cardiac damage assessed with echocardiography. This staging is strongly associated with prognosis, with a doubled risk increase of cardiovascular events for each stage progression. The aims of the present study were to investigate the evolution of cardiac damage using this staging system during midterm follow-up and to identify predictors of stage worsening.

Cardio-Oncology Challenges in Elderly Patients.

Along with the ageing of the population, cancer and cardiovascular (CV) diseases more frequently coexist, complicating patients' management. Here, we focus on elderly oncologic patients, describing clinical features and comorbidities, discussing therapeutic management CV risk factors and CV complications risen during our CV follow-up, and exploring the different items of the comprehensive geriatric assessment (CGA) and the correlation between cardiac function by means of standard 2D echocardiography and each of the CGA items. A total of 108 consecutive patients (mean age 73.

Preliminary results of a multidimensional approach to screen for frailty in community-dwelling older adults of eight Italian regions: the SUNFRAIL+ study.

Background: Frailty syndrome in older adults is an age-related decline in many physiological systems, that results in a reduced response to minor stressors, and leading to an increased risk of falls, hospitalization, disability and death. Frailty can be prevented, reversed or mitigated by early screening for frailty risk in community-dwelling older adults, allowing for preventive interventions on clinical and social determinants.

Objectives: The present article reports the preliminary results of the SUNFRAIL+ study multidimensional cascade assessment in a group of community-dwelling older adults of 8 Italian regions aimed to stratify the population according to the needs of care at the first administration, integrated with the quality of life (QoL) assessment to evaluate the impact of early, integrated care.

User-centred digital solution for dentofacial deformities management: an innovative approach technology based.

Objective: Dentofacial deformities (DFD) encompass a range of conditions affecting approximately 60% of the population, varying from mild to severe cases. Managing these disorders requires a multidisciplinary approach, yet establishing a unified therapeutic protocol across different specialties often proves challenging. This underscores the necessity to understand the specific needs and demands of patients diagnosed with DFD, aiming to develop an effective treatment pathway.

Subclinical left ventricular dysfunction assessed by global longitudinal strain correlates with mild cognitive impairment in hypertensive patients.

Prevention of dementia represents a public health priority. Hypertension is a risk factor for mild cognitive impairment (MCI), a precursor to progressive dementia. A great effort is underway to develop accurate and sensitive tools to detect the MCI condition in hypertensive patients.

Effects of Chrono-Exercise and Chrono-Nutrition on Muscle Health: Understanding the Molecular Mechanisms Activated by Timed Exercise and Consumption of Proteins and Carbohydrates.

The circadian clock is an endogenous timekeeping system that regulates various physiological and behavioral processes. Recently, it has been shown that the timing of physical activity and food intake can significantly influence metabolic muscle health. Some recent clinical evidence has shown that physical activity practiced in the late afternoon can be more effective in terms of performance and muscle strength.

Predictive value of TG/HDL-C and GFR-adjusted uric acid levels on cardiovascular mortality: the URRAH study.

Background: Insulin resistance (IR) and serum uric acid (SUA) are closely interconnected: SUA contributes to adversely affects the insulin signaling pathway and contributes to IR, while IR is a known predictor for the development of hyperuricemia. The triglyceride (TG) to high-density lipoprotein cholesterol (HDL-C) ratio has been proposed as an easily obtainable marker for IR. This research aimed to investigate the interaction between IR and glomerular filtration rate (GFR)-adjusted uricemia (SUA/GFR ratio) in determining CV risk in a large population cohort study.

Screening of primary aldosteronism and pheochromocytoma among patients with hypertension: an Italian nationwide survey.

Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.

Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.

L-Arginine supplementation as mitochondrial therapy in diabetic cardiomyopathy.

In patients with type II diabetes, the development of diabetic cardiomyopathy (DC) is associated with a high risk of mortality. Left ventricular hypertrophy, diastolic dysfunction, and exercise intolerance are the first signs of DC. The underlying mechanisms are not fully elucidated, and there is an urgent need for specific biomarkers and molecular targets for early diagnosis and treatment.

Cardiac involvement in Anderson-Fabry disease. The role of advanced echocardiography.

Anderson-Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene. Cardiovascular involvement represents the leading cause of death in AFD. Cardiac imaging plays a key role in the evaluation and management of AFD patients.

Management of Renovascular Hypertension and Renal Denervation in Patients with Hypertension: An Italian Nationwide Survey.

Introduction: Renovascular hypertension (RVH) remains underdiagnosed despite its significant cardiovascular and renal morbidity.

Aim: This survey investigated screening and management practices for RVH among hypertensive patients in Italian hypertension centres in a real-life setting. Secondary, we analysed the current spread of renal denervation (RDN) and the criteria used for its eligibility.

Serum parathormone, vitamin D and cardiovascular risk factors and markers: A pilot study.

Background And Aims: Vitamin D deficiency is a common cause of secondary hyperparathyroidism, particularly in elderly people. The aim of this study was to evaluate the associations of serum vitamin D and parathormone (PTH) concentrations with blood pressure values and hypertension-mediated target organ damage (HMOD), including left ventricular (LV) hypertrophy and carotid plaque (CP).

Methods And Results: We enrolled consecutive patients admitted to the Hypertension Center of Federico II University Hospital in Naples, Italy.

Endothelial microRNAs in INOCA patients with diabetes mellitus.

Ischemia with non-obstructive coronary artery (INOCA) is a common cause of hospital admissions, leading to negative outcomes and reduced quality of life. Central to its pathophysiology is endothelial dysfunction, which contributes to myocardial ischemia despite the absence of significant coronary artery blockage. Addressing endothelial dysfunction is essential in managing INOCA to alleviate symptoms and prevent cardiovascular events.

Serum Uric Acid, Hypertriglyceridemia, and Carotid Plaques: A Sub-Analysis of the URic Acid Right for Heart Health (URRAH) Study.

High levels of serum uric acid (SUA) and triglycerides (TG) might promote high-cardiovascular-risk phenotypes, including subclinical atherosclerosis. An interaction between plaques xanthine oxidase (XO) expression, SUA, and HDL-C has been recently postulated. Subjects from the URic acid Right for heArt Health (URRAH) study with carotid ultrasound and without previous cardiovascular diseases (CVD) (n = 6209), followed over 20 years, were included in the analysis.