A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments.

Diet Intervention Study through Telemedicine Assistance for Systemic Nickel Allergy Syndrome Patients during the COVID-19 Pandemic.

Background: Restrictions due to the COVID-19 pandemic limited patients' access to hospital care. The aims of this study were to assess dietary nutritional status, quality of life (QoL), and adherence to dietary therapy before and after 30-day personalized diet therapy through telenutrition tools in patients with systemic nickel allergic syndrome (SNAS).

Methods: Each SNAS patient underwent the following allergological procedures: (a) face-to-face visit (nutritional visit and QoL evaluation) with prescription of one out of five personalized and balanced dietary plans different for calorie intake, (b) video call visit for dietary evaluation and assessment of adherence to diet after 15 days, and (c) video call visit for dietary and QoL evaluation and assessment of adherence to diet therapy after 30 days (end of study).

Effect of biscuits formulated with high-amylose maize flour on satiety-related sensations and food intake.

The amount of amylose within a food may elicit lower glycemic and insulin postprandial responses and thus potentially modulate the satiating effect. In this context, the effect of biscuits formulated with high amylose starch (HAS) flour on satiety-related sensations and food intake was studied. Three types of biscuits were produced: control biscuit (CRT, 0% of HAS), Amy-25 (25% HAS), and Amy-50 (50% HAS).

The Role of Nutrition in the COVID-19 Pandemic.

SARS-CoV-2, the cause of the COVID-19 disease, is posing unprecedent challenges. In the literature, increasing evidence highlights how malnutrition negatively affects the immune system functionality, impairing protection from infections. The current review aims to summarize the complex relationship between SARS-CoV-2 infection and nutritional status and the effects of malnutrition in terms of disease severity, patients' recovery time, incidence of complications and mortality rate.

Rare PECAM1 variants in three families with lymphedema.

PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare PECAM1 variants found in lymphedema patients with the development of lymphatic system malformations.

Segregation Analysis of Rare and Variants in Families with Lymphedema.

Neuropilins are transmembrane coreceptors expressed by endothelial cells and neurons. NRP1 and NRP2 bind a variety of ligands, by which they trigger cell signaling, and are important in the development of lymphatic valves and lymphatic capillaries, respectively. This study focuses on identifying rare variants in the and genes that could be linked to the development of lymphatic malformations in patients diagnosed with lymphedema.

Genetic test for the prescription of diets in support of physical activity.

Owing to the fields of nutrigenetics and nutrigenomics today we can think of devising approaches to optimize health, delay onset of diseases and reduce its severity according to our genetic blue print. However this requires a deep understanding of nutritional impact on expression of genes that may result in a specific phenotype. The extensive research and observational studies during last two decades reporting interactions between genes, diet and physical activity suggest a cross talk between various genetic and environmental factors and lifestyle interventions.

Food supplements based on palmitoylethanolamide plus hydroxytyrosol from olive tree or Bacopa monnieri extracts for neurological diseases.

Neurological disorders like Parkinson disease and Alzheimer disease, spinal cord injury and stroke have some recurrent characteristics such as abnormal protein aggregation, oxidative stress induction, apoptosis, excitotoxicity, perturbation of intracellular Ca2+ homeostasis and inflammation. To date, there are few effective treatments available and the drugs currently used to manage the symptoms have important side effects. Therefore, research studies are focusing on natural phytochemicals present in diet as bioactive molecules potentially useful against neurodegenerative diseases.

Mutations in the Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes.

Background: ARAP3 is a small GTPase-activating protein regulator, which has important functions in lymphatic vessel organogenesis and modulation of cell adhesion and migration. Mutations in the gene are associated with impaired lymphatic vessel formation.

Objective: The aim of our study was to determine the genotypes of lymphedema patients in relation to variants in the gene in order to explore its role in the development of lymphedema.

Mediterranean diet and the prevention of non-alcoholic fatty liver disease: results from a case-control study.

Objective: Few studies report that Mediterranean dietary (MD) pattern has a beneficial role in the progression of non-alcoholic fatty liver disease (NAFLD). Evidence on its potential effect on the onset of disease are, however, scanty. With our study, we evaluated whether MD affects the risk of NAFLD with a large case-control study performed in Italy.

Gut Microbiota and Cardiovascular Diseases: A Critical Review.

The human intestine contains the largest and most diverse ecosystem of microbes. The main function of the intestinal bacterial flora is to limit the growth of potentially pathogenic microorganisms. However, the intestinal microbiota is increasingly emerging as a risk factor for the development of cardiovascular disease (CVD).

CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.

CYP26B1 is a member of the cytochrome P450 family and is responsible for the break-down of retinoic acid for which appropriate levels are important for normal development of the cardiovascular and lymphatic systems. In a cohort of 235 patients with lymphatic malformations, we performed genetic testing for the CYP26B1 gene. These probands had previously tested negative for known lymphedema genes.

Nutrition, IBD and Gut Microbiota: A Review.

Inflammatory bowel disease (IBD) is a chronic relapsing-remitting systemic disease of the gastrointestinal tract, characterized by an inflammatory process that requires lifelong treatment. The underlying causes of IBD are still unclear, as this heterogeneous disorder results from a complex interplay between genetic variability, the host immune system and environmental factors. The current knowledge recognizes diet as a risk factor for the development of IBD and attributes a substantial pathogenic role to the intestinal dysbiosis inducing an aberrant mucosal immune response in genetically predisposed individuals.

Natural small molecules as inhibitors of coronavirus lipid-dependent attachment to host cells: a possible strategy for reducing SARS-COV-2 infectivity?

Background: Viral infectivity depends on interactions between components of the host cell plasma membrane and the virus envelope. Here we review strategies that could help stem the advance of the SARS-COV-2 epidemic.

Methods And Results: We focus on the role of lipid structures, such as lipid rafts and cholesterol, involved in the process, mediated by endocytosis, by which viruses attach to and infect cells.

The Association of Disease Activity, BMI and Phase Angle with Vitamin D Deficiency in Patients with IBD.

Hypovitaminosis D is frequently present in inflammatory bowel disease (IBD) with a higher incidence in Crohn's disease (CD) than in Ulcerative Colitis (UC). Given the involvement of the alimentary tract, many factors can contribute to hypovitaminosis D. The aim of the study was to investigate the association of disease activity, body mass index (BMI) and phase angle with vitamin D deficiency in patients with IBD.

Food Components and Dietary Habits: Keys for a Healthy Gut Microbiota Composition.

The gut microbiota is a changing ecosystem, containing trillions of bacteria, continuously shaped by many factors, such as dietary habits, seasonality, lifestyle, stress, antibiotics use, or diseases. A healthy host-microorganisms balance must be respected in order to optimally maintain the intestinal barrier and immune system functions and, consequently, prevent disease development. In the past several decades, the adoption of modern dietary habits has become a growing health concern, as it is strongly associated with obesity and related metabolic diseases, promoting inflammation and both structural and behavioral changes in gut microbiota.

Genetic syndromes with localized subcutaneous fat tissue accumulation.

Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis.

Mendelian non-syndromic obesity.

Obesity is highly heritable and arises from the interplay of many genes and environmental factors. It can be defined as the result of prolonged imbalance between calorie intake and energy utilization. About 5% of cases of non-syndromic obesity are monogenic (Mendelian obesity).

Monogenic hyperlipidemias.

Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoproteins. High plasma concentrations of lipids are the most frequent risk factor for cardiovascular disease. Monogenic hyperlipidemias are a minor cause with respect to multifactorial hyperlipidemias.

Characterization of Sarcopenia in an IBD Population Attending an Italian Gastroenterology Tertiary Center.

(1) Background: There is growing interest in the assessment of muscular mass in inflammatory bowel disease (IBD) as sarcopenia is associated with important outcomes. The aim of the study was to evaluate the percentage of sarcopenia in IBD patients, characterizing methods for assessment and clinical symptoms associated to it. (2) Methods: Consecutive IBD patients accessing the Fondazione Policlinico Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) were enrolled.

Cancer and Mediterranean Diet: A Review.

The Mediterranean diet is considered one of the most worldwide healthy dietary patterns thanks to a combination of foods rich mainly in antioxidants and anti-inflammatory nutrients. Many studies have demonstrated a strong and inverse relationship between a high level of Mediterranean diet adherence and some chronic diseases (such as cardiovascular diseases, diabetes, etc.) and cancer.

Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study.

Objectives: Myotonic dystrophy type 1 (DM1) is an inherited muscle disorder characterized by slowly progressive weakness due to muscle degeneration. The Muscular Impairment Rating Scale (MIRS) is validated to assess clinical muscle severity of patients with DM1, although the scale is not sensitive enough to assess disease progression in time intervals fit for clinical trials. The aim of this study was to analyze bioelectrical whole body and arm segmental parameters in patients with DM1 to explore a correlation between bioelectrical impedance analysis (BIA) parameters and disease stage.

Nutritional Interventions to Improve Clinical Outcomes in Ovarian Cancer: A Systematic Review of Randomized Controlled Trials.

Among all gynaecological neoplasms, ovarian cancer has the highest rate of disease-related malnutrition, representing an important risk factor of postoperative mortality and morbidity. Hence, the importance of finding effective nutritional interventions is crucial to improve ovarian cancer patient's well-being and survival. This systematic review of randomized controlled trials (RCTs) aims at assessing the effects of nutritional interventions on clinical outcomes such as overall survival, progression-free survival, length of hospital stay (LOS), complications following surgery and/or chemotherapy in ovarian cancer patients.

Taste, olfactory and texture related genes and food choices: implications on health status.

Objective: The food choices are due to a mixture of sensory signals including gustatory, olfactory, and texture sensations. The aim of this quality review was to update data about studies concerning genetics of taste, olfactory and texture receptors and their influence on the health status in humans.

Materials And Methods: An electronic search was conducted in MEDLINE, Pubmed database and Scopus, for articles published in English until December 2018.

Intestinal permeability after Mediterranean diet and low-fat diet in non-alcoholic fatty liver disease.

Background: In non-alcoholic fatty liver disease (NAFLD), a high-fat or high-fructose diet increases intestinal permeability and promotes derangement of the gut-liver axis. We hypothesize that, diet could be able to modulate intestinal permeability in patients with NAFLD.

Aim: To detect diet-induced modification of intestinal permeability in patients with NAFLD undergoing a Mediterranean diet or a low-fat diet.