An Adapted Questionnaire Tailored for Assessing the Risk of Vitamin D Deficiency in Children That Is Proving Useful in Guiding Clinical Interventions.

Background: The identification of vitamin D (VitD) deficiency in pediatric populations is essential for preventive healthcare. We refined and tested the Evaluation of Deficiency Questionnaire (EVIDENCe-Q) for its utility in detecting VitD insufficiency among children.

Patients And Methods: We enrolled 201 pediatric patients (aged between 3 and 18 years).

CRISPR/Cas9 mediated Y-chromosome elimination affects human cells transcriptome.

Background: Sexual dimorphism represents a key concept in the comprehension of molecular processes guiding several sex-specific physiological and pathological mechanisms. It has been reported that genes involved in many disorders show a sex-dependent expression pattern. Moreover, the loss of Y chromosome (LOY), found to be a physiological age-driven phenomenon, has been linked to many neurodegenerative and autoimmune disorders, and to an increased cancer risk.

The Effect of Crackers Enriched with Camelina Sativa Oil on Omega-3 Serum Fatty Acid Composition in Older Adults: A Randomized Placebo-Controlled Pilot Trial.

Background: Camelina sativa oil is one of the richest dietary sources of omega-3, with polyunsaturated fatty acids amounts of over 50%, linolenic acid content of around 40-45%, and linoleic acid of about 15%. Moreover, this oil is a valuable source of antioxidants which provide oxidative stability. All those features raise interest in considering Camelina oil as an alternative and sustainable oil source providing stable omega-3-rich emulsions for functional food production.

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing.

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.

Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches.

Screening Questionnaire for Vitamin D Insufficiency in Children with Obesity.

Non-invasive screening tools to identify children at high risk of vitamin D (VitD) deficiency are proactive measures in preventive care. Recently, a validated questionnaire (Evaluation dEficieNCy Questionnaire, EVIDENCe-Q) for identifying newly diagnosed VitD-insufficient adults has been developed. We tested the EVIDENCe-Q modified for children with obesity and evaluated the correlation between VitD and questionnaire scores to adapt this tool to the pediatric population.

Development of a Short Questionnaire for the Screening for Vitamin D Deficiency in Italian Adults: The EVIDENCe-Q Project.

Background: To develop and validate a questionnaire for the screening of Vitamin D in Italian adults (Evaluation Vitamin D dEficieNCy Questionnaire, EVIDENCe-Q). Methods: 150 participants, attending the 11Clinical Nutrition and Dietetics Operative Unit, Internal Medicine and Endocrinology, Istituti Clinici Scientifici Maugeri IRCCS, of Pavia were enrolled. Demographic variables and serum levels of vitamin D were recorded.

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.

Importance: Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for HM and for identification of new therapeutic targets.

Objective: To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia.

Lifestyle Changes and Body Mass Index during COVID-19 Pandemic Lockdown: An Italian Online-Survey.

Background: COVID-19 pandemic has imposed a period of contingency measures, including total or partial lockdowns all over the world leading to several changes in lifestyle/eating behaviours. This retrospective cohort study aimed at investigating Italian adult population lifestyle changes during COVID-19 pandemic "Phase 1" lockdown (8 March-4 May 2020) and discriminate between positive and negative changes and BMI (body mass index) variations (ΔBMI).

Methods: A multiple-choice web-form survey was used to collect retrospective data regarding lifestyle/eating behaviours during "Phase 1" in the Italian adult population.

The association between weight-promoting medication use and weight gain in postmenopausal women: findings from the Women's Health Initiative.

Objective: With the rise in obesity, there has been a concomitant increase in prescription medications associated with weight gain. The objective of this study is to quantify the magnitude of association between putative weight-promoting medications and 3-year weight change in a diverse cohort of postmenopausal women in the Women's Health Initiative (WHI).

Methods: This is a prospective observational cohort study, considering 40 sites in the WHI and a cohort of seventy six thousand two hundred fifty-two postmenopausal women aged 50-79 years, with weight measured at both baseline and 3 years, in the WHI-Observational Study.

Associations of autozygosity with a broad range of human phenotypes.

In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy.

Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals.

Background: Subclinical changes on the electrocardiogram are risk factors for cardiovascular mortality. Recognition and knowledge of electrolyte associations in cardiac electrophysiology are based on only in vitro models and observations in patients with severe medical conditions.

Objectives: This study sought to investigate associations between serum electrolyte concentrations and changes in cardiac electrophysiology in the general population.

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.

Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular disease. Currently, the degree of genetic regulation of this syndrome is under debate and partially unknown.

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178).

Body composition and resting energy expenditure in women with anorexia nervosa: Is hyperactivity a protecting factor?

Background: In subjects with anorexia nervosa (AN) physical exercise may cause or even prevent weight loss, body composition alterations and adaptive thermogenesis. To investigate the influence of behavioral patterns on body composition and energy expenditure in women with AN, we conducted a retrospective analysis in 62 patients with AN referring to our outpatients' clinic.

Materials And Methods: We assessed anthropometric measurement of weight, height, and BMI; body composition was assessed by bioelectrical impedance analysis; resting energy expenditure was measured through indirect calorimetry.

Weight Loss Medications in Older Adults After Bariatric Surgery for Weight Regain or Inadequate Weight Loss: A Multicenter Study.

Weight loss medications are effective to confer additional weight loss after bariatric surgery in the general population, but they have not been evaluated in adults 60 years of age and older. We performed a retrospective study identifying 35 patients who were ≥60 years old and had undergone Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy (SG) from 2000 to 2014, and were subsequently prescribed weight loss medications. Linear regression analyses were performed to determine beta coefficients of certain predictor variables being associated with weight loss.