Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

Vitamin D deficiency predicts cognitive decline in older men and women: The Pro.V.A. Study

Objective: To test the hypothesis that hypovitaminosis D is associated with a higher risk of cognitive decline over a 4.4-year follow-up in a large sample of older adults. Methods: This research was part of the Progetto Veneto Anziani (Pro.V.A.), an Italian populationbased cohort study of 1,927 elderly subjects. Serum 25-hydroxyvitamin D (25OHD) levels were measured at the baseline. Global cognitive function was measured with the Mini-Mental State Examination (MMSE); scores lower than 24 were indicative of cognitive dysfunction, and a decline of 3 or more points on the MMSE over the follow-up was considered as clinically significant. Analyses were adjusted for relevant confounders, includin…

Autosomal Recessive Hypercholesterolemia Long-Term Cardiovascular Outcomes

BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. OBJECTIVES Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. METHODS Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. RESULTS We collected data for 52 patients (28 females, 24 males; 31.1 +/- 17.1 years of age…

Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: A pooled analysis of 1018 population-based measurement studies with 88.6 million participants

Background: Change in the prevalence of raised blood pressure could be due to both shifts in the entire distribution of blood pressure (representing the combined effects of public health interventions and secular trends) and changes in its high-blood-pressure tail (representing successful clinical interventions to control blood pressure in the hypertensive population). Our aim was to quantify the contributions of these two phenomena to the worldwide trends in the prevalence of raised blood pressure. Methods: We pooled 1018 population-based studies with blood pressure measurements on 88.6 million participants from 1985 to 2016. We first calculated mean systolic blood pressure (SBP), mean dia…

Serum Thyroid-Stimulating Hormone Levels and Frailty in the Elderly: The Progetto Veneto Anziani Study

High or low thyroid-stimulating hormone (TSH) levels seem to be associated with several negative outcomes in the elderly, but the literature about TSH and frailty is still limited. In this article, we investigated whether TSH is associated with prevalent and incident frailty in a cohort of older community-dwelling subjects. Among 3099 initially screened in the Progetto Veneto Anziani Study, 2571 men and women aged ≥65 years (for cross-sectional analyses) and 1732 (longitudinal, mean follow-up period of 4.4 years) were divided into sex-specific quintiles according to baseline serum TSH concentrations within normal range (0.3 and 4.2 mUI/L). Frailty was defined as the presence of three among …

Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-based studies with 187 million participants. Changes in the prevalence of underweight and total obesity, and to a lesser extent severe obesity, are largely driven by shifts in the distribution of BMI, with smaller contributions from changes in the shape of the distribution. In East and Southeast Asia…

Rising rural body-mass index is the main driver of the global obesity epidemic in adults

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities(.)(1,2) This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity(3-6). Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55% of the global rise in mean BMI from 1985 to 2017-and more than 80% in some low- and middle-income regions…

Serum uric acid and incident osteoporotic fractures in old people: The PRO.V.A study

Purpose: Although high serum uric acid (SUA) levels are associated with negative outcomes in older people, recent studies reported that hyperuricemia could help protect against the onset of bone fractures. We consequently examined whether baseline SUA levels were associated with risk of incident osteoporotic fractures in a representative group of elderly people with no fractures or other bone-modifying conditions or drugs at the baseline. Methods: Among 3099 people aged ≥ 65. years initially involved in the PRO.V.A. study, 1586 participants with no prior diagnosis of osteoporotic fractures, and no conditions or medication affecting bone metabolism at the baseline were followed up for 4.4. ±…

Serum Dehydroepiandrosterone Sulfate and Risk for Type 2 Diabetes in Older Men and Women: The Pro.V.A Study

Objective: A large body of clinical data suggests the importance of endogenous sex hormones in the pathogenesis of diabetes, but very little is known about the possible relationship between dehydroepiandrosterone sulfate (DHEAS) and diabetes, particularly in the elderly. We aimed, therefore, to examine whether high serum levels of DHEAS have any protective effects on the incidence of type 2 diabetes and to elucidate the possible role of gender in a cohort of older subjects. Methods: We followed 1258 community-dwelling subjects aged ≥65 years without type 2 diabetes who belonged to the Progetto Veneto Anziani (Pro.V.A.) for 4.4±1.2 years. DHEAS were measured at baseline and categorized into …

Author response: Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

Serum 25-Hydroxyvitamin D and Orthostatic Hypotension in Old People

Interest in the association between serum 25-hydroxyvitamin D (25OHD) and blood pressure has increased because recent research showed a close relationship between them, but there is still little information on the possible association between 25OHD and orthostatic hypotension. The aim of this study was to explore the relationship of 25OHD levels with any presence of orthostatic hypotension in a large group of older people. This study was part of the Progetto Veneto Anziani (Pro.V.A.), an Italian population–based cohort study involving people aged >65 years. In this cross-sectional work, we considered 2640 (1081 men and 1559 women) with a mean age of 73.8±6.8 years. Orthostatic hypotensi…

Serum 25-hydroxyvitamin d and the onset of late-life depressive mood in older men and women: the Pro.V.A. study.

Depression is a debilitating chronic condition, and its diagnosis and treatment in elderly people are often challenging. Because depressive mood seems to follow a seasonal pattern, peaking in summer and winter (1), it has recently been suggested that, through its action on the hypothalamus (which is involved in mood regulation), vitamin D might account for the link between seasonal changes in photoperiod and seasonal mood swings (2). Acting as a neurosteroid hormone, vitamin D may regulate human and animal neurotransmission, neuroprotection, and neuroimmunomodulation (3), and nuclear vitamin D receptors have been located in the human cortex and hippocampus (4). Although an association betwe…

Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants

BACKGROUND: Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents.

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …

Vitamin D deficiency and leisure time activities in the elderly: are all pastimes the same?

Background Optimal vitamin D status is important for overall health and well-being, particularly in the elderly. Although vitamin D synthesis in the skin declines with age, exposure to sunlight still seems to help older-aged adults to achieve adequate serum 25-hydroxyvitamin D (25OHD) levels. Elderly people would therefore benefit from outdoor leisure activities, but the effects of different types of pastime on serum 25OHD levels have yet to be thoroughly investigated. Aims To assess the association of different pastimes with 25OHD deficiency in elderly subjects. Methods A sample of 2,349 community-dwelling elderly individuals (1,389 females and 960 males) enrolled in the Progetto Veneto An…

Orthostatic changes in blood pressure and mortality in the elderly: The Pro.V.A study

BACKGROUND An extensive, albeit contrasting literature has suggested a possible role for orthostatic hypotension as a risk factor for cardiovascular (CVD) and non-CVD mortality, while no data are available for orthostatic hypertension. We investigated whether orthostatic changes in blood pressure (BP) were associated with any increased risk of all-cause, CVD or non-CVD mortality in a group of elderly people. METHODS Two thousand seven hundred and eighty six community-dwelling older participants were followed for 4.4 years. Participants were grouped according to whether they had a drop ≤20mm Hg in systolic, or ≤10mm Hg in diastolic BP (orthostatic hypotension), an increase in mean orthostati…

Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 128·9 million children, adolescents, and adults

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground Underweight, overweight, and obesity in childhood and adolescence are associated with adverse health consequences throughout the life-course. Our aim was to estimate worldwide trends in mean body-mass index (BMI) and a comprehensive set of BMI categories that cover underweight to obesity in children and adolescents, and to compare trends with those of adults. Methods We pooled 2416 population-based studies with measurements of height and weight on 128·9 million participants aged 5 years and older, including 31·5 million aged 5–19 years. We used a Bayesian hierarchical model …

National trends in total cholesterol obscure heterogeneous changes in HDL and non-HDL cholesterol and total-to-HDL cholesterol ratio : a pooled analysis of 458 population-based studies in Asian and Western countries

Artículo con numerosos autores. Sólo quedan reflejados el primero, los pertenecientes a la UAM y el colectivo

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…

Hypovitaminosis D predicts the onset of orthostatic hypotension in older adults

A number of small cross sectional studies have demonstrated that hypovitaminosis D (represented by low 25 hydroxyvitamin D (25OHD) levels) is associated with orthostatic hypotension (OH). We investigated if hypovitaminosis D is associated with the onset of OH in older adults over a follow-up of 4.4 years. 25OHD was categorized using sex-specific quartiles; OH was defined as a drop of ≤20 mm Hg in systolic or ≤10 mm Hg in diastolic blood pressure <3 minutes of standing. Among 1308 elderly without OH at baseline, using an adjusted logistic regression analysis and taking those with higher baseline serum 25OHD as reference, there was a significant increase in the onset of OH in those with lo…

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

What physical performance measures predict incident cognitive decline among intact older adults? A 4.4 year follow up study

Reductions in physical performance, cognitive impairment (CI) and decline (CD), are common in older age, but few prospective cohort studies have considered the relationship between these domains. In this study we investigated whether reduced physical performance and low handgrip/lower limbs strength, could predict a higher incidence of CI/CD during a 4-year follow-up among a cohort of elderly individuals. From 3099 older community-dwelling individuals initially enrolled in the Progetto Veneto Anziani (PRO.V.A.) study, 1249 participants without CI at the baseline were included (mean age 72.2 years, 59.5% females). Physical performance measures included the Short Physical Performance Battery …

Autosomal Recessive Hypercholesterolemia

Abstract Background Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years…

Repositioning of the global epicentre of non-optimal cholesterol

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A century of trends in adult human height

Article

Changes in Frailty Status and Risk of Depression: Results From the Progetto Veneto Anziani Longitudinal Study.

Objective To evaluate whether prefrailty was associated with the risk of developing depression and if longitudinal changes in frailty status corresponded to changes in incident depression during follow up. Methods A population-based, prospective cohort study was conducted for 4.4 years in two separate geographic areas near the city of Padua in the Veneto Region of Northern Italy. In 891 nondepressed, nonfrail, community-dwelling Italian subjects aged ≥ 65 (46.6% men) belonging to the Progetto Veneto Anziani study, depression was defined according to the Geriatric Depression Scale and was confirmed by geriatricians skilled in psychogeriatric medicine. Prefrailty was defined by the presence o…

Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19.2 million participants

Copyright © NCD Risk Factor Collaboration. Open Access article distributed under the terms of CC BY.

High serum uric acid levels increase the risk of metabolic syndrome in elderly women: The PRO.V.A study

Background and aims: Serum uric acid (SUA) is the end-product of purine metabolism in humans, and its levels often increase in subjects with metabolic syndrome (MetS). Despite several studies demonstrating a relationship between increased SUA levels and the prevalence of MetS, prospective data on SUA as a predictor of the incidence of MetS in the elderly are limited. Our aim was to conduct a prospective study on the association between SUA concentrations and the onset of MetS in an elderly Italian cohort. Methods and results: This is a cohort study (Progetto Veneto Anziani Pro.V.A.) involving community-dwelling subjects aged ≥65 years and followed up for a mean 4.4 years. We included 1128 p…

Hyperuricemia, cardiovascular profile, and comorbidity in older men and women: The Pro.V.A. Study

Hyperuricemia (HU) is growing worldwide and associates with several medical conditions in the elderly. However, data about older people and possible gender differences are sparse. The aim of this study was to compare HU prevalence rates and association with relevant medical disorders in elderly subjects of both sexes. Pro.V.A. is a survey of 3099 individuals aged 65+, focusing on chronic diseases and disability. Uric acid (UA) levels were dichotomized using 6.0 mg/dL (females) and 7.0 mg/dL (males), and multivariate logistic regression models were used to estimate odds ratios (ORs) between HU and single comorbidity. HU prevalence was 21.5% in females and 15.8% in males. HU was associated wi…

Association Between Short Physical Performance Battery and Falls in Older People: The Progetto Veneto Anziani Study.

It is known that weakness in the lower limbs is associated with recurrent falls in old people. Among the tests routinely used to assess lower extremity strength, the Short Physical Performance Battery (SPPB) is one of those used most often, but its relationship with recurrent falls is poorly investigated. We aimed to determine if SPPB scores are related to recurrent falling in a sample of 2710 older-aged people, and to ascertain which test in the SPPB is most strongly associated with a higher rate of falls. In this cross-sectional study, we demonstrated that participants scoring 0-6 in the SPPB were more likely to be recurrent fallers than those scoring 10-12 (odds ratio [OR]=3.46, 95% conf…

Factors Influencing Transitions Between Frailty States in Elderly Adults: The Progetto Veneto Anziani Longitudinal Study.

Objectives: To investigate frailty state transitions in a cohort of older Italian adults to identify factors exacerbating or improving frailty conditions. Design: Population-based longitudinal study with mean follow-up of 4.4 years. Setting: Community. Participants: Individuals enrolled in the Progetto Veneto Anziani (Pro.V.A.) (N = 2,925; n = 1,179 male, n = 1,746 female; mean age 74.4 ± 7.3). Measurements: Frailty was identified at baseline and follow-up based on the presence of at least three Fried criteria; prefrailty was defined as the presence of one or two Fried criteria. Anthropometric, socioeconomic, and clinical characteristics were assessed at baseline in a personal interview and…

Poor Physical Performance Predicts Future Onset of Depression in Elderly People: Progetto Veneto Anziani Longitudinal Study.

Abstract Background. Reduced physical performance is predictive of deleterious outcomes in older adults. Data considering objective physical performance and incident depression are sparse. Objective. The objective of this study was to investigate during a 4-year study whether objective physical performance can predict incident depression among older adults who do not have depression at the baseline. Design. This was a longitudinal study. Methods. From 3,099 older people initially enrolled in the Progetto Veneto Anziani study, 970 participants without depression at the baseline were included (mean age = 72.5 years; 54.6% women). Physical performance measures included the Short Physical Perfo…

Serum Dehydroepiandrosterone Sulfate and Incident Depression in the Elderly: The Pro.V.A. Study

Objective: Dehydroepiandrosterone sulfate (DHEAS) appears to have a protective effect against depression, but contrasting findings are available. Therefore, we investigated whether high serum DHEAS levels were associated with any protective effect on incident depression and incident severe depression in a representative group of elderly men and women. Methods: In a population-based cohort longitudinal study in the general community, 789 older participants without depression and cognitive impairment at the baseline were included, among 3,099 screened subjects. Serum DHEAS levels were determined based on blood samples; incident depression and severe depression were diagnosed by means of the G…

Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: a pooled analysis of 96 population-based studies with 331 288 participants.

Diabetes has been defined on the basis of different biomarkers, including fasting plasma glucose (FPG), 2-h plasma glucose in an oral glucose tolerance test (2hOGTT), and HbA1c. We assessed the effect of different diagnostic definitions on both the population prevalence of diabetes and the classification of previously undiagnosed individuals as having diabetes versus not having diabetes in a pooled analysis of data from population-based health examination surveys in different regions.

Association between osteoarthritis and social isolation: data from the EPOSA study

Objective: To determine whether there is an association between osteoarthritis (OA) and incident social isolation using data from the European Project on OSteoArthritis (EPOSA) study.Design: Prospective, observational study with 12 to 18 months of follow-up.Setting: Community dwelling.Participants: Older people living in six European countries.Measurements: Social isolation was assessed using the Lubben Social Network Scale and the Maastricht Social Participation Profile. Clinical OA of the hip, knee, and hand was assessed according to American College of Rheumatology criteria. Demographic characteristics, including age, sex, multijoint pain, and medical comorbidities, were assessed.Results…

Response to treatment and occurrence of cardiovascular (CV) complications in patients with autosomal recessive hypercholesterolemia (ARH): A retrospective analysis

Serum 25-hydroxyvitamin D and the incidence of peripheral artery disease in the elderly: The Pro.V.A study

Aim: This study was conducted to examine whether low serum levels of 25-hydroxyvitamin D (250HD) are associated with a higher risk of incident peripheral artery disease (PAD) in a representative group of elderly people. Methods: We followed 1568 community-dwelling elderly participants without PAD at the baseline among a sample of 2097 initially eligible over a mean of 4.4 years as part of the Progetto Veneto Anziani (Pro.V.A.) study. The baseline serum 250HD levels were categorized as <24, 25-49, 50-74, >75 nmol/L, and incident PAD was defined as an ankle-brachial index below 0.9. Results: At the baseline, there were no differences in known risk factors for PAD (BMI), waist circumfere…

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…

Pain increases the risk of developing frailty in older adults with osteoarthritis

OBJECTIVE.: While osteoarthritis (OA)-related pain increases the risk of physical inactivity, disability, and falls, less is known about whether pain increases the risk of frailty. We investigated if people with OA reporting pain are more likely to develop frailty than people with OA without pain. DESIGN.: Population-based prospective cohort study with a follow-up of 4.4 years. SETTING.: Community. SUBJECTS.: The subjects were 1,775 older men and women with osteoarthritis, enrolled in the Progetto Veneto Anziani. METHODS.: Pain was ascertained according to medical records, symptoms/signs, and use of analgesics. Participants were considered frail if they met three out of five criteria of Fri…