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BACKGROUND AND AIMS: Excess salt intake is the leading dietary risk factor for cardiovascular disease in most countries, including Italy. While the cost-effectiveness of interventions aimed to reduce salt intake has been proved, the WHO recommendation to reduce salt intake by 30 % at the global level by 2025 is far from being reached. METHODS AND RESULTS: In Italy, two surveys of the general adult population have established that the average salt intake is still almost twice the WHO recommendation although it was reduced by 1.2 g/day between 2008-12 and 2018-19. Previous investigations had shown that non-discretionary salt added by the industry or by local craft producers represents at least 50 % of the total intake and indicated cereal-based products as the main source of non-discretionary salt. Two recent studies conducted by the Italian Society of Human Nutrition "Young Working Group" have provided updated information on the salt content of almost three thousand cereal-based products currently available on the Italian food market and shown that most of the items evaluated had a sodium content much higher than the sodium benchmarks recently proposed by WHO. CONCLUSIONS: Italy has built the foundations of an effective population strategy for salt intake reduction: it is time however to proceed with full commitment to food reformulation if any substantial further progress has to be made. Salt benchmarks for Italy need to be defined for the food categories most relevant to population salt intake and their implementation should ideally be mandatory after consultation with food producers.
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Doenças Cardiovasculares , Cloreto de Sódio na Dieta , Adulto , Humanos , Cloreto de Sódio na Dieta/efeitos adversos , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/prevenção & controle , Grão Comestível/efeitos adversos , Itália , SódioRESUMO
BACKGROUND AND AIMS: Insulin resistance (IR) is a major risk factor for cardiovascular disease. Recently, a novel index (triglyceride-glucose index-TyG) has been proposed as a surrogate marker of IR and a better expression of IR than the Homeostatic Model Assessment of IR (HOMA-IR) index. Few and heterogeneous data are so far available on the relationship between vascular damage and this novel index. Therefore, we aimed to estimate the predictive role of TyG, in comparison with the HOMA-IR, on the development of arterial stiffening (AS), defined as a pulse pressure>60 mmHg, in an 8-year follow-up observation of a sample of non-diabetic adult men (the Olivetti Heart Study). METHODS AND RESULTS: The analysis included 527 non-diabetic men, with normal arterial elasticity at baseline and not on antihypertensive or hypolipidemic treatment. TyG was significantly greater in those who developed AS than those who did not (p = 0.006). On the contrary, the HOMA-IR index was not different between the two groups (p = 0.24). Similar trends were shown by logistic regression analysis adjusting for main confounders. After the stratification by the optimal cut-off point, values of TyG >4.70 were significantly associated with the development of AS, also after adjustment for main confounders. On the contrary, the HOMA-IR index >1.90 was not associated with the risk of AS development in multivariate models. CONCLUSION: The results of this study indicate a predictive role of TyG on AS, independently of the main potential confounders. Moreover, the predictive power of TyG seems to be greater than that of the HOMA-IR index.
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OBJECTIVE: Monitoring population salt intake is operationally and economically challenging. We explored whether a questionnaire assessment and a prediction of Na intake from spot-urine could replace or complement the recommended measurement of Na in 24-h urine (24-h U). DESIGN: Compare the agreement of a Na-specific food record checklist (FRCL) and a late-afternoon spot-urine measurement (PM-spot) with 24-h U measurement in estimating Na intake at group level. Each participant's use of these methods extended over 3 d. Agreement was assessed using mean (95 % CI) differences, linear regression models and Bland-Altman plots. SETTING: The validation study was part of a 1-year workplace intervention trial to lower salt intake in Switzerland. PARTICIPANTS: Seventy women and 71 men, aged 21-61 years, completed three FRCL, and acceptable PM-spot and 24-h U samples at baseline (April-October 2015). RESULTS: Mean Na intake estimates varied slightly across methods (3·5-3·9 g/d). Mean Na intake differences from 24-h U were 0·2 (95 % CI (0, 0·5)) g/d for FRCL and 0·4 (95 % CI (0·2, 0·6)) g/d for PM-spot. Linear regression models and Bland-Altmann plots more clearly depicted differences by sex and discretionary salt use. CONCLUSIONS: Although 24-h U remains the best reference method for monitoring Na intake at the population level, PM-spot and FRCL might be more practical instruments for frequent, periodic Na intake assessments. Population-specific prediction models to estimate 24-h U could be developed and evaluated.
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Sódio na Dieta , Coleta de Urina , Feminino , Humanos , Masculino , Lista de Checagem , Sódio , Cloreto de Sódio na Dieta , Coleta de Urina/métodos , Ensaios Clínicos como AssuntoRESUMO
BACKGROUND AND OBJECTIVE: Metabolic syndrome (MS) and its components are associated with greater cardiovascular risk. A number of studies found a positive association between MS and vascular damage, but few observational studies evaluated the predictive role of MS on arterial stiffening (AS). Therefore, the aim of this study was to estimate the ability of MS and its components to predict the risk of AS in an 8-year follow-up of a sample of adult men (Olivetti Heart Study). METHODS: The analysis included 778 men without AS (pulse pressure >60 mmHg) at baseline. A positive diagnosis of MS was made by recognized criteria, if at least three components were present. RESULTS: At the end of the follow-up period, there was an incidence of 11% in AS. The percentage of participants that developed AS was greater in the MS group than those without MS, also after adjustment for main confounders (odds ratio: 2.5, 95% confidence interval: 1.3-4.9). The risk of AS also increased with increase in the numbers of MS elements (p for trend <.01). In addition, the analysis of the predictive role of the single MS component showed that high blood pressure (HBP) was the strongest predictor. CONCLUSIONS: The results of this prospective study indicate a predictive role of MS on AS, independently of main confounders. In addition, HBP seems the strongest predictor of AS among MS components.
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Síndrome Metabólica , Adulto , Artérias , Pressão Sanguínea , Humanos , Masculino , Síndrome Metabólica/epidemiologia , Estudos Prospectivos , Fatores de RiscoRESUMO
Bisphosphonates are the first-choice treatment of osteoporosis and Paget's disease of bone. Among the bisphosphonates, the non-amino-bisphosphonates, such as clodronic acid, are intracellular converted into toxic analogues of ATP and induce cellular apoptosis whereas the amino-bisphosphonates, such as zoledronic acid, inhibit the farnesyl-diphosphate-synthase, an enzyme of the mevalonate pathway. This pathway regulates cholesterol and glucose homeostasis and is a target for statins. In this retrospective cohort study, we evaluated the effects of an intravenous infusion of zoledronic acid (5 mg) or clodronic acid (1500 mg) on blood lipid (i.e. total cholesterol, low-density lipoprotein-cholesterol, high-density lipoprotein-cholesterol and triglycerides) and glucose levels in patients with osteoporosis and Paget's disease of bone. All patients were evaluated before, 1 and 6 months after bisphosphonate treatment. Pagetic and osteoporotic patients treated with zoledronic acid showed a significant reduction in glucose and atherogenic lipids during follow-up whereas these phenomena were not observed after clodronic treatment. The effect on circulating lipid levels was similar in naïve and re-treated Pagetic patients. Zoledronic acid treatment was associated with a reduction in blood glucose and atherogenic lipids in patients with metabolic bone disorders. The extent of change was similar to that obtained with the regular assumption of a low-intensity statin. Further studies are warranted to better evaluate the clinical implications of these observations.
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Conservadores da Densidade Óssea , Osteíte Deformante , Difosfonatos , Glucose , Humanos , Lipídeos , Estudos Retrospectivos , Ácido ZoledrônicoRESUMO
PURPOSE: The relationship between 100% fruit juice (100%FJ) consumption and cardiovascular risk is object of debate: indeed, recently published investigations provided new but discrepant evidence on this important question and International dietary guidelines are not in agreement on recommendations about fruit juice consumption. Therefore, we performed a meta-analysis of the prospective studies and the randomised controlled trials (RCTs) that explored the relationship between 100%FJ intake, cardiovascular risk profile and risk of cardiovascular events. METHODS: We performed a systematic search of publications up to August 2019. Summary relative risks and exploration of linearity of the association were estimated for prospective studies and summary mean differences (MDs) calculated for RCTs. RESULTS: A total of 21 prospective studies and 35 RCTs met the inclusion criteria. Dose-response analysis detected a significant inverse association between low-moderate 100%FJ consumption and risk of stroke (up to 200 ml/day) or total CV events (up to 170 ml/day) compared with no consumption, with a non-linear relationship (p for non-linearity < 0.05). No significant association was found for coronary heart disease and diabetes risk. In RCTs, a favorable and significant effect of 100%FJ intake was detected on blood pressure (systolic, MD: - 3.14 mmHg; diastolic, MD: - 1.68 mmHg), arterial compliance (carotid-femoral pulse wave velocity, - 0.38 m/s) and endothelial function (flow-mediated dilation, 2.10%). Neutral effects were found on body weight, blood lipids and glucose metabolism. CONCLUSIONS: The results of these analyses indicate that 100%FJ consumption is not associated with higher CV risk. A non-linear inverse dose-response relationship occurs between 100%FJ consumption and CV disease, in particular for risk of stroke, probably mediated by the decrease in blood pressure. TRIAL REGISTRATION: PROSPERO registration number (CRD42019135577).
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Doenças Cardiovasculares , Doença das Coronárias , Pressão Sanguínea , Doenças Cardiovasculares/epidemiologia , Sucos de Frutas e Vegetais , Fatores de Risco de Doenças Cardíacas , HumanosRESUMO
PURPOSE: The World Health Organization recommends reduction of salt intake to < 5 g/day and the use of iodized salt to prevent iodine deficiency states. A high prevalence of excess salt consumption and an inadequate iodine intake has been previously shown in an Italian pediatric population. It was appropriate, therefore, to analyse in the same population the relationship occurring between salt consumption and iodine intake. METHODS: The study population was made of 1270 children and adolescents. Estimates of salt consumption and iodine intake were obtained by measuring 24 h urinary sodium and iodine excretion. RESULTS: The iodine intake increased gradually across quartiles of salt consumption independently of sex, age and body weight (p < 0.001). Median iodine intake met the European Food Safety Authority adequacy level only in teenagers in the highest quartile of salt consumption (salt intake > 10.2 g/day). We estimated that approximately 65-73% of the total iodine intake was derived from food and 27-35% from iodized salt and that iodized salt made actually only 20% of the total salt intake. CONCLUSION: In this pediatric population, in face of an elevated average salt consumption, the use of iodized salt was still insufficient to ensure an adequate iodine intake, in particular among teenagers. In the perspective of a progressive reduction of total salt intake, the health institutions should continue to support iodoprophylaxis, in the context of the national strategies for salt reduction. In order for these policies to be successful, in addition to educational campaigns, it is needed that the prescriptions contained in the current legislation on iodoprophylaxis are made compelling through specific enforcement measures for all the involved stakeholders.
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Iodo , Cloreto de Sódio na Dieta , Adolescente , Criança , Humanos , Itália/epidemiologia , Estado Nutricional , Cloreto de SódioRESUMO
AIMS: In the course of the COVID-19 pandemic, multiple suggestions have been delivered through websites and social media referring to natural substances and various kinds of supplements with thaumaturgical properties in preventing and/or fighting the coronavirus infection. Indeed, there is no clinical trial evidence that a dietary or pharmacological supplementation of any particular substance will increase the effectiveness of the immune defences. There are however three nutritional issues that deserve special attention under the present circumstances, namely vitamin D deficiency, excess salt intake and inappropriate alcohol consumption. Here is a short review of the current knowledge about the possible role of these factors in the immunity defence system and their potential impact on the modulation of the immune response to SARS-COV2 infection. DATA SYNTHESIS: For all of these factors there is convincing evidence of an impact on the immune defence structure and function. In the absence of RCT demonstration that increased ingestion of any given substance may confer protection against the new enemy, special attention to correction of these three nutritional criticisms is certainly warranted at the time of COVID pandemic. CONCLUSIONS: We propose that the inappropriate intake of salt and alcohol and the risk of inadequate vitamin D status should be object of screening, in particular in subjects at high mortality risk from SARS-COV 2 infection, such as institutionalised elderly subjects and all those affected by predisposing conditions.
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Consumo de Bebidas Alcoólicas/epidemiologia , COVID-19/imunologia , Estado Nutricional , Sódio na Dieta/efeitos adversos , Deficiência de Vitamina D/epidemiologia , Consumo de Bebidas Alcoólicas/imunologia , COVID-19/epidemiologia , Dieta/métodos , Suplementos Nutricionais , Humanos , Imunidade , Pandemias , Saúde Pública , Fatores de Risco , SARS-CoV-2 , Vitamina D/administração & dosagem , Deficiência de Vitamina D/imunologia , Deficiência de Vitamina D/terapia , Vitaminas/administração & dosagemRESUMO
Lysosomal storage disorders (LSDs) are a group of clinically heterogeneous disorders affecting the function of lysosomes and are characterized by an accumulation of undigested substrates within several cell types. In recent years there have been substantial advances in supportive care and drug treatment for some LSDs, leading to improved patient survival, as seen in Gaucher, Pompe and Fabry disease and some Mucopolysaccharidoses; however, many symptoms still persist. Thus it is now even more important to improve patients' quality of life and reduce symptoms and comorbidities. One potential way of achieving this goal is through adjunct nutritional therapy, which is challenging as patients may be overweight with associated consequences, or malnourished, or underweight. Furthermore, drugs used to treat LSDs can modify the metabolic status and needs of patients. There are currently not enough data to make specific dietary recommendations for individual LSDs; however, suggestions can be made for managing clinical manifestations of the diseases, as well as treatment-associated adverse events. The metabolic and nutritional status of adult patients must be regularly assessed and individualized dietary plans may be created to cater to a patient's specific needs. Damage to the autophagic process is a common feature in LSDs that is potentially sensitive to dietary manipulation and needs to be assessed in clinical studies.
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Metabolismo Energético , Doenças por Armazenamento dos Lisossomos/dietoterapia , Desnutrição/prevenção & controle , Estado Nutricional , Apoio Nutricional , Obesidade/prevenção & controle , Humanos , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/epidemiologia , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Desnutrição/fisiopatologia , Obesidade/diagnóstico , Obesidade/epidemiologia , Obesidade/fisiopatologia , Resultado do TratamentoRESUMO
The year 2020 celebrated the tenth anniversary of the recognition of the Mediterranean Diet as Intangible Cultural Heritage of Humanity by the UNESCO Intergovernmental Committee. This event represented a milestone in the history of nutrition, as the Mediterranean diet was the first traditional food practice to receive such award. Since then, a lot has been discussed not only on the beneficial aspects of the Mediterranean diet, but also on its complex role as a lifestyle model that includes a set of skills, knowledge and intercultural dialogue. This process ended up with the recognition in 2019 of Mediterranean diet as a possibly universal model of healthy diet from the EAT-Lancet Commission. These concepts were widely debated at the 2019 "Ancel Keys" International Seminar, held in Ascea (Italy) (for more information see: www.mediterraneandietseminar.org) with the aim to stimulate interest and awareness of a young group of participants on the current problems inherent to the effective implementation of the Mediterranean diet. The present article collects the contributions of several lecturers at the Seminar on key issues such as methodological and experimental approach, sustainability, molecular aspects in disease prevention, future exploitation, without neglecting a historical view of the Seven Countries Study. From the Seminar conclusions emerged a still vibrant and modern role of Mediterranean diet. The years to come will see national and international efforts to reduce the barriers that limit adherence to Mediterranean diet in order to plan for multi-factorial and targeted interventions that would guide our populations to a sustainable healthy living.
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Doença Crônica/prevenção & controle , Dieta Saudável , Dieta Mediterrânea , Medicina Baseada em Evidências , Comportamento de Redução do Risco , Animais , Doença Crônica/epidemiologia , Humanos , Estado Nutricional , Valor Nutritivo , Fatores de Proteção , Medição de Risco , Fatores de RiscoRESUMO
BACKGROUND AND AIMS: Low potassium intake, in addition to high sodium, has been associated with higher risk of hypertension and CVD. The Study assessed habitual potassium intake and sodium/potassium ratio of the Italian adult population from 2008 to 2012 to 2018-2019 based on 24-h urine collection, in the framework of the CUORE Project/MINISAL-GIRCSI/MENO SALE PIU' SALUTE national surveys. METHODS AND RESULTS: Data were from cross-sectional surveys of randomly selected age-and-sex stratified samples of resident persons aged 35-74 years in 10 (out of 20) Italian regions. Urinary electrolyte and creatinine measurements were performed in a central laboratory. Analyses considered 942 men and 916 women, examined in 2008-2012, and 967 men and 1010 women, examined in 2018-2019. In 2008-2012, the age-standardized mean of potassium intake (urinary potassium accounts for 70% of potassium intake) was 3147 mg (95% CI 3086-3208) in men and 2784 mg (2727-2841) in women, whereas in 2018-2019, it was 3043 mg (2968-3118) and 2561 mg (2508-2614) respectively. In 2008-2012, age-adjusted prevalence of persons with an adequate potassium intake (i.e. ≥ 3510 mg/day) was 31% (95% CI 28-34%) for men and 18% (16-21%) for women; in 2018-2019, it was 26% (23-29%) and 12% (10-14%) respectively. The sodium/potassium ratio significantly decreased both in men and women. CONCLUSIONS: The average daily potassium intake of the Italian general adult population remains lower than the WHO and EFSA recommended level. These results suggest the need of a revision to strengthen initiatives for the promotion of an adequate potassium intake at the population level.
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Dieta/tendências , Potássio na Dieta/urina , Sódio na Dieta/urina , Adulto , Idoso , Estudos Transversais , Inquéritos sobre Dietas , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Recomendações Nutricionais , Eliminação Renal , Fatores de Tempo , UrináliseRESUMO
BACKGROUND AND AIMS: The WHO Global Action Plan for the Prevention of non-communicable diseases (NCDs) recommends a 30% relative reduction in mean population salt/sodium intake. The study assessed the trend in the habitual salt intake of the Italian adult population from 2008 to 2012 to 2018-2019 based on 24-h urinary sodium excretion, in the framework of the CUORE Project/MINISAL-GIRCSI/MENO SALE PIU' SALUTE national surveys. METHODS AND RESULTS: Data were from cross-sectional surveys of randomly selected age and sex-stratified samples of resident persons aged 35-74 years in 10 (out of 20) Italian Regions distributed in North, Centre and South of the Country. Urinary sodium and creatinine measurements were carried out in a central laboratory. The analyses included 942 men and 916 women examined in 2008-2012, and 967 men and 1010 women examined in 2018-2019. The age-standardized mean daily population salt (sodium chloride) intake was 10.8 g (95% CI 10.5-11.1) in men and 8.3 g (8.1-8.5) in women in 2008-2012 and respectively 9.5 g (9.3-9.8) and 7.2 g (7.0-7.4) in 2018-2019. A statistically significant (p<0.0001) salt intake reduction was thus observed over 10 years for both genders, and all age, body mass index (BMI) and educational classes. CONCLUSIONS: The average daily salt intake of the Italian general adult population remains higher than the WHO recommended level, but a significant reduction of 12% in men and 13% in women has occurred in the past ten years. These results encourage the initiatives undertaken by the Italian Ministry of Health aimed at the reduction of salt intake at the population level.
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Doença Crônica/prevenção & controle , Dieta Saudável/tendências , Dieta Hipossódica/tendências , Dieta/tendências , Cloreto de Sódio na Dieta/urina , Adulto , Idoso , Doença Crônica/epidemiologia , Estudos Transversais , Inquéritos sobre Dietas , Comportamento Alimentar , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Recomendações Nutricionais , Comportamento de Redução do Risco , Cloreto de Sódio na Dieta/efeitos adversos , Fatores de Tempo , UrináliseRESUMO
Moderation in the use of salt (sodium chloride) in food and food preparations prevents the tendency of blood pressure to increase with age, and this is documented by many studies in current literature [...].
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Dieta Hipossódica/tendências , Cloreto de Sódio na Dieta/efeitos adversos , Cloreto de Sódio/efeitos adversos , Pressão Sanguínea/fisiologia , Dieta/métodos , Dieta/tendências , Dieta Hipossódica/métodos , Humanos , Hipertensão/fisiopatologia , Cloreto de Sódio/metabolismoRESUMO
Osteoporosis and nephrolithiasis are common multifactorial disorders with high incidence and prevalence in the adult population worldwide. Both are associated with high morbidity and mortality if not correctly diagnosed and accurately treated. Nephrolithiasis is considered a risk factor for reduced bone mineral density. Aim of this retrospective longitudinal study was to evaluate if osteoporosis is a predictive factor for the nephrolithiasis occurrence. Free-living subjects referring to "COMEGEN" general practitioners cooperative operating in Naples, Southern Italy. Twelve thousand seven hundred ninety-four Caucasian subjects (12,165 female) who performed bone mineral density by dual-energy X-ray absorptiometry and have a negative personal history for nephrolithiasis. Subjects aged less than 40 years or with signs or symptoms suggestive of secondary osteoporosis were excluded from the study. In a mean lapse of time of 19.5 months, 516 subjects had an incident episode of nephrolithiasis. Subjects with osteoporosis had an increased risk of nephrolithiasis than subjects without osteoporosis (Hazard Ratio = 1.33, 95% Confidence Interval 1.01-1.74, p = 0.04). Free-living adult subjects over the age of 40 with idiopathic osteoporosis have an increased risk of incident nephrolithiasis, suggesting the advisability of appropriate investigation and treatment of the metabolic alterations predisposing to nephrolithiasis in patients with osteoporosis. The study protocol was approved by the ASL Napoli 1 Ethical Committee, protocol number 0018508/2018.
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Nefrolitíase/epidemiologia , Osteoporose/epidemiologia , Absorciometria de Fóton , Adulto , Densidade Óssea , Feminino , Medicina Geral , Humanos , Itália/epidemiologia , Estudos Longitudinais , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND AND AIMS: The most used indicator for the renal function is the glomerular filtration rate (GFR). Current used predictive GFR equations were calibrated on patients with chronic kidney disease. Thus, they are not very precise in healthy individuals. The estimation of skeletal muscle mass (SMM) allows the prediction of the daily urinary creatinine excretion (24hUCrE). This study proposes an equation for the estimation of GFR based on SMM (eGFRMuscle) and serum creatinine (SCr). METHODS AND RESULTS: Four hundred sixty-six free-living men underwent a bioelectrical impedance analysis for the evaluation of SMM (kg), a blood withdrawal for the measurement of SCr (mg/dL), and a 24-h urinary collection for the assessment of 24hUCrE (g/24 h). The linear regression analysis between SMM and 24hUCrE and the measurement of SCr allowed developing a predictive equation of eGFRMuscle. The equation predicting eGFRMuscle (ml/min/1.73 m2) was SMM (kg) × 3.06/SCr (mg/dL). eGFRMuscle was statistically different from eGFR predicted by Cockroft-Gault, MDRD Study, and CKD-EPI equations (p = 0.017, p < 0.001, and p < 0.001, respectively). Pairwise comparison of standard error of the area under the ROC curve (AUC) of eGFRMuscle with all the other AUCs of ROC curves highlighted significant differences. CONCLUSIONS: The equation presented in this study results in age, weight, gender, and ethnicity independent because it arises directly from SMM estimation. Therefore, the proposed equation could allow evaluating the GFR also in healthy people with low, average, or high weight, and in older people, regardless of GFR and SCr levels.
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Composição Corporal , Creatinina/sangue , Creatinina/urina , Taxa de Filtração Glomerular , Rim/fisiologia , Modelos Biológicos , Músculo Esquelético/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Biomarcadores/urina , Impedância Elétrica , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Fatores de TempoRESUMO
Idiopathic osteoporosis and nephrolithiasis are formidable health problems showing a progressive increase in their incidence and prevalence in the last decades. These temporal trends were observed in both pediatric and adult populations worldwide. Epidemiological and experimental studies indicate that both disorders show several common pathogenic environmental and genetic factors. In this review, we analyzed the clinical characteristics common to the two disorders and the state-of-the-art knowledge regarding the genetic predisposition and the environmental factors recognized as triggers in adult and pediatric ages. As a result of this work, we propose to consider idiopathic nephrolithiasis and osteoporosis as two possible expressions of a unique clinical syndrome. Accordingly, the clinical approach to both disorders should be modified in order to program an efficient primary and secondary prevention strategy.
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Cálculos Renais/patologia , Nefrolitíase/etiologia , Osteoporose/etiologia , Predisposição Genética para Doença , Humanos , Cálculos Renais/genética , Cálculos Renais/fisiopatologia , Nefrolitíase/genética , Nefrolitíase/fisiopatologia , Osteoporose/genética , Osteoporose/fisiopatologia , Fatores de RiscoRESUMO
Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687). The mutation precisely co-segregated with the clinical phenotype in all affected family members. The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/PDB) identified the same mutation in all individuals, unravelling a founder effect. ZNF687 is highly expressed during osteoclastogenesis and osteoblastogenesis and is dramatically upregulated in the tumor tissue of individuals with GCT/PDB. Interestingly, our preliminary findings showed that ZNF687, indicated as a target gene of the NFkB transcription factor by ChIP-seq analysis, is also upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mutations in SQSTM1, encouraging additional studies to investigate its potential role as a biomarker of PDB risk.
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Regulação Neoplásica da Expressão Gênica , Tumores de Células Gigantes/genética , Osteíte Deformante/genética , Dedos de Zinco/genética , Sequência de Aminoácidos , Animais , Criança , Éxons , Feminino , Efeito Fundador , Humanos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Osteoclastos/metabolismo , Linhagem , Regulação para Cima , Peixe-Zebra/genéticaRESUMO
Adequate vitamin D status is essential for skeletal health. Paget's disease of bone (PDB) is a common metabolic skeletal disorder, but data regarding the vitamin D status in PDB patients are lacking. We performed a case-control study to estimate vitamin D status in 708 PDB patients and in 1803 healthy controls from Italy and an observational prospective study to evaluate the efficacy-safety profile of oral cholecalciferol treatment [400.000 International Units (UI) of cholecalciferol administered in cycles of 8 weeks until 25OHD levels reaches 70 nmol/L as primary therapy and 50.000 UI of cholecalciferol administered every 2 weeks for 52 weeks for the maintenance therapy] in 82 PDB patients with hypovitaminosis D, i.e., 25OHD < 50 nmol/L. The main outcome measures for the prospective study were 25OHD levels, metabolic risk factors (RF) for nephrolithiasis, bone pain score (BPS), and pain medication score (PMS). Over half of PDB patients had hypovitaminosis D. Among PDB patients treated with cholecalciferol, 76 patients reached 25OHD levels ≥ 70 nmol/L after the first cycle of primary therapy and the remaining six patients after a second cycle. The maintenance therapy guaranteed 25OHD levels ≥ 70 nmol/L during the entire follow-up. The increase in 25OHD levels reduced PTH, BPS, and PMS levels, without changes in RF for nephrolithiasis. We can conclude that (i) hypovitaminosis D is frequent in PDB patients, (ii) cholecalciferol significantly increased 25OHD levels in PDB patients, and (iii) the correction of hypovitaminosis D improves the quality of life of PDB patients without inducing significant changes in RF for nephrolithiasis.
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Osso e Ossos/efeitos dos fármacos , Colecalciferol/farmacologia , Osteíte Deformante/tratamento farmacológico , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/farmacologia , Adulto , Osso e Ossos/metabolismo , Cálcio/metabolismo , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/uso terapêutico , Estudos Prospectivos , Qualidade de Vida , Deficiência de Vitamina D/metabolismo , Vitaminas/administração & dosagem , Vitaminas/farmacologiaRESUMO
The most recent scientific evidence supports the consumption of cow's milk and dairy products as part of a balanced diet. However, these days, the public and practicing physicans are exposed to a stream of inconsistent (and often misleading) information regarding the relationship between cow's milk intake and health in the lay press and in the media. The purpose of this article, in this context, is to facilitate doctor-patient communication on this topic, providing physicians with a series of structured answers to frequently asked patient questions. The answers range from milk and milk-derived products' nutritional function across the life span, to their relationship with diseases such as osteoporosis and cancer, to lactose intolerance and milk allergy, and have been prepared by a panel of experts from the Italian medical and nutritional scientific community. When consumed according to appropriate national guidelines, milk and its derivatives contribute essential micro- and macronutrients to the diet, especially in infancy and childhood where bone mass growth is in a critical phase. Furthermore, preliminary evidence suggests potentially protective effects of milk against overweight, obesity, diabetes, and cardiovascular disease, while no clear data suggest a significant association between milk intake and cancer. Overall, current scientific literature suggests that an appropriate consumption of milk and its derivatives, according to available nutritional guidelines, may be beneficial across all age groups, with the exception of specific medical conditions such as lactose intolerance or milk protein allergy. Key teaching points: Milk and its derivatives contribute essential micro and macronutrients to the diet, when consumed according to appropriate national guidelines, especially in infancy and childhood where bone mass growth is in a critical phase. Preliminary evidence suggests potentially protective effects of milk against overweight, obesity, diabetes and cardiovascular disease No clear data are available about the association between milk intake and cancer. Current scientific literature suggests that an appropriate consumption of milk and its derivatives may be beneficial at all ages, with the exception of specific medical conditions such as lactose intolerance or milk protein allergy.
Assuntos
Dieta , Leite , Valor Nutritivo , Animais , Bovinos , Hipersensibilidade Alimentar , HumanosRESUMO
PURPOSE: Recently, a large prospective study provided additional information concerning the debated possible association between habitual coffee consumption and risk of hypertension (HPT). Therefore, we updated the state of knowledge on this issue by carrying out a comprehensive new systematic review of the literature and a meta-analysis of the available relevant studies. METHODS: We performed a systematic search for prospective studies on general population, published without language restrictions (1966-August 2017). A random-effects dose-response meta-analysis was conducted to combine study specific relative risks (RRs) and 95% confidence intervals. Potential non-linear relation was investigated using restricted cubic splines. RESULTS: Four studies (196,256 participants, 41,184 diagnosis of HPT) met the inclusion criteria. Coffee intake was assessed by dietary questionnaire. Dose-response meta-analysis showed a non-linear relationship between coffee consumption and risk of HPT (p for non-linearity < 0.001). Whereas the habitual drinking of one or two cups of coffee per day, compared with non-drinking, was not associated with risk of HPT, a significantly protective effect of coffee consumption was found starting from the consumption of three cups of coffee per day (RR = 0.97, 95% CI = 0.94 to 0.99), and was confirmed for greater consumption. CONCLUSIONS: The results of this analysis indicate that habitual moderate coffee intake is not associated with higher risk of HPT in the general population and that in fact a non-linear inverse dose-response relationship occurs between coffee consumption and risk of HPT.