0000000000479767

AUTHOR

Chiara Bellia

Mutation in beta-fibrinogen gene (C148T) is important risk factor in patients affected by thromboembolic disease.

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Changes in serum fetuin-A and inflammatory markers levels in end-stage renal disease (ESRD): effect of a single session haemodialysis.

Background: The aim of the present study was to evaluate the effect of a single haemodialysis (HD) session on serum fetuin-A levels, considered a negative acute phase response marker; moreover, we evaluated the behaviour of fibrinogen and high sensitivity C-reactive protein (hsCRP) as acute phase response and chronic/subclinical inflammation markers, respectively, after a single HD session. Methods: Serum fetuin-A, albumin, hsCRP and fibrinogen were measured in 72 patients before and after a single HD session. Results: After a single HD session, we observed a significant increase in fibrinogen levels, while fetuin-A levels decreased (p<0.05). Also, hsCRP levels were significantly increased.…

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KRAS: one actor, many potential roles in diagnosis

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Hyperhomocysteinemia and Cardiovascular Risk: Effect of Vitamin Supplementation in Risk Reduction

Abstract Homocysteine is a sulfur-containing aminoacid produced during metabolism of methionine. Since 1969 the relationship between altered homocysteine metabolism and both coronary and peripheral atherotrombosis has been known; in recent years experimental evidences have shown that elevated plasma levels of homocysteine are associated with an increased risk of atherosclerosis and cardiovascular ischemic events. Several mechanisms by which elevated homocysteine impairs vascular function have been proposed, including impairment of endothelial function, production of Reactive Oxygen Species (ROS) and consequent oxidation of low-density lipids. Folic acid and B vitamins, required for remethyl…

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Diet high in protein-rich foods with structured sport activity may be useless to lose fat mass and maintain fat-free mass

Background The aim of this study was to demonstrate that a normal protein diet along with minimal sports activity can be enough to lose fat mass and maintain muscle mass. Methods All participants were prescribed a hypocaloric nutritionally balanced Mediterranean-style diet tailored to the individual for 8 weeks. Body composition and energy expenditure were measured. Sedentary patients (G1) were only recommended to perform minimal aerobic training, while sport subjects (G2) were prescribed structured physical activity and higher calorie and protein contents in the diet. Results There were no significant differences between the two groups for any of the measured parameters. Conclusions The mo…

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Heart-type fatty acid binding protein is a sensitive biomarker for early AMI detection in troponin negative patients: a pilot study

Background: Early detecting AMI in individuals presenting to the ED with chest pain continues to be a challenge. cTn is the gold standard for AMI diagnosis but early presenters (&lt;1 hours from symptom onset) maybe cTn negative on admission. We analysed the diagnostic value of h-FABP and hs-TnI in patients presenting to ED with chest pain and no cTnI elevations. Methods: 28 AMI and 28 no-AMI individuals both presented to ED within one hour from pain onset were included. Blood donors were analysed for h-FABP cut-off identification. Among AMI patients, 55% were positive for h-FABP and 34.6% were positive for hs-TnI (p = .015), thus 21% were positive only for h-FABP. The diagnostic accuracy w…

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Cerebrospinal Fluid Analysis in Multiple Sclerosis Diagnosis: An Update

Multiple sclerosis (MS) is an immune-mediated demyelinating disease of the central nervous system (CNS) with brain neurodegeneration. MS patients present heterogeneous clinical manifestations in which both genetic and environmental factors are involved. The diagnosis is very complex due to the high heterogeneity of the pathophysiology of the disease. The diagnostic criteria have been modified several times over the years. Basically, they include clinical symptoms, presence of typical lesions detected by magnetic resonance imaging (MRI), and laboratory findings. The analysis of cerebrospinal fluid (CSF) allows an evaluation of inflammatory processes circumscribed to the CNS and reflects chan…

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Extensive molecular analysis of patients bearing CFTR-related disorders.

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

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Klotho and vitamin D in multiple sclerosis: an Italian study

Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental factors. Polymorphisms in genes codifying molecules involved in vitamin D homeostasis have been associated with hypovitaminosis D. However, the influence of polymorphisms of Klotho, which codify a protein with a pivotal role in vitamin D metabolism, have never been investigated. The aim of this study was to evaluate the association among genetic variants of Klotho, namely rs1207568 and rs9536314, serum 25(OH)D3 levels, and multiple sclerosis (both …

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Use of Saliva in Alternative to Serum Sampling to Monitor Biomarkers Modifications in Professional Soccer Players

We aimed to investigate the correlation between serum and salivary concentrations of steroid hormones and IgA, and the variation in concentrations of these biomarkers, across a soccer competitive season in a sample of players playing for an Italian major League team. Thirty-five elite male soccer players were recruited and assessed for salivary hormones (cortisol, testosterone, T/C‰ and DHEA-S) and IgA at three different time-points: (t1) after the pre-season period and 16 official matches played; (t2) after a winter break and three official matches played; (t3) 2 days after the final match of the championship and 19 matches played. Players were also tested for blood biomarkers (ser-C, ser-…

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APOE and longevity: study of a population of Sardinian Centenarians

Apolipoprotein E is a major determinant in lipoprotein metabolism and cardiovascular disease, it has emerged as an important molecule in several biological processes including Alzheimer's disease and cognitive function. ApoE is a polymorphic protein (ε2, ε3, ε4) with three proteic isoforms, ApoE2, ApoE3, ApoE4 (1). The aim of the study was to verify the frequencies of allelic variants a population of healthy elderly people. ApoE polymorphisms were determined by Real Time-PCR. The genotype frequencies of ApoE in our group of 71 centenarians (mean age 100.9 ±1.3) were: ε2/ε3 (12.67%); ε3/ε4 (5.63%). In the control group, consisting of 97 individuals (mean age 92.98 ±2.53), the genotype freque…

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Molecular analysis of the APP gene overexpression and his relationship with early onset of Alzheimer Dementia in young adults with Down Syndrome

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Vitamin K deficiency bleeding leading to a diagnosis of Crohn’s Disease

We report the case of a 45 year old man who came to Emergency Room of Polyclinic for sudden onset of localized ecchymosis and widespread hematomas. He was subjected to blood count and first level investigations to assess coagulation. Based on the results, second level investigations were performed. Endoscopy of the gastrointestinal tract with histological examination revealed a diagnosis of Crohn's disease. Vitamin K deficiency causes the formation of vitamin K-dependent clotting factors that cannot perform their pro-coagulant action. Consequently, patients present with hemorrhagic manifestations. Clinical and laboratory features observed in this patient show that the deficiency of vitamin …

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Fetuin-A, renal function and cardiovascular disease in elderly subjects

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Activity of mannose-binding lectin in centenarians

Summary We analyzed MBL2 gene variants in two cohorts of centenarians, octo-nonagenarians and nonagenarians, and in the general population, one from Sardinia Island (Italy), recruited in the frame of the AKea study, and another from Campania (southern Italy), to search for haplotypes related to longevity. We also assessed in vitro the effect of mannose-binding lectin (MBL) on various human cells at different stage of senescence. The frequency of high and null activity haplotypes was significantly lower, and the frequency of intermediate activity haplotype significantly higher in centenarians and in subjects between 80 and 99 years from both the cohorts as compared each to the general popula…

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Molecular markers in acute coronary syndrome

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Galectin-3 in acute coronary syndrome

Acute coronary syndrome (ACS) is a very common cause of hospitalizations worldwide each year. In the past decades biomarkers have become an indispensable tool for diagnosis, risk stratification and prognosis of cardiovascular disease, including ACS. Despite Troponin is considered the gold standard in diagnosis of ACS, several molecules have been investigated to identify predictive biomarkers of prognosis. Among these, Gal-3 has emerged as a promising prognostic marker. It has a pivotal role in inflammation and fibrosis. Both experimental and clinical studies have shown Gal-3 is an independent predictor of all-cause mortality, cardiovascular death and occurrence of HF following ACS. This art…

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Establishing the 99th percentile for high sensitivity cardiac troponin i in healthy blood donors from southern italy

Introduction: The knowledge of high sensitivity cardiac troponin I (hsTnI) distribution in a reference population is mandatory for its introduction in clinical practice. The aim of this study was to define the Upper Reference Limit (URL) of hsTnI measured by Single Molecule Counting technology (SMC) in an accurately selected reference population. Materials and methods: In the study 1140 blood donors were included and selected on the basis of medical history and biomarkers. High sensitivity cardiac troponin I was measured by SMC technology (Clarity, Singulex, Alamed, USA). The 99th percentile was calculated by the non-parametric method according to the Clinical and Laboratory Standard Instit…

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Losing weight after menopause with minimal aerobic training and mediterranean diet

Objective: It is a common belief that menopausal women have greater difficulty losing weight. The aim of this study was to assess the efficacy of a Mediterranean diet (MD) to promote weight loss in postmenopausal women. All participants were prescribed a hypocaloric traditional MD, tailored to the individual. Subjects were asked not to begin any kind of physical activity. Body composition was measured at the beginning and after 8 weeks of treatment. In total, 89 women (age 52.8 &plusmn

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Effects of quality and quantity of protein intake for type 2 Diabetes Mellitus prevention and metabolic control

Purpose of Review: The aim of this review is to evaluate the ideal protein quality and quantity and the dietary composition for the prevention and metabolic control of type 2 diabetes mellitus (T2DM). Introduction: Although some reviews demonstrate the advantages of a diet with a higher protein intake, other reviews have observed that a diet high in carbohydrates, with low-glycaemic index carbohydrates and good fibre intake, is equally effective in improving insulin sensitivity. Methods: Over 2831 articles were screened, and 24 from the last 5 years were analysed and summarised for this review, using the protein, diabetes and insulin glucose metabolic keywords in Pubmed in June 2019. Result…

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Clinical applications of Proton Spectroscopy in the study of neurodegenerative disease

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Definition of the upper reference limit of glycated albumin in blood donors from Italy.

Abstract Background: Glycated Albumin (GA) has been proposed as a short-term indicator of glycemic homeostasis. The aim of this study is to describe the distribution of GA in a large sample of blood donors from Italy to evaluate whether demographic features, namely age and sex, could influence GA levels and define specific reference limits. Methods: The study included 1334 Italian blood donors. GA was measured using an enzymatic method (quantILab Glycated Albumin, IL Werfen, Germany). The upper reference limit (URL) was calculated using the non-parametric percentile method. Results: A modest, although significant, increase of GA was observed in relation to age (p&lt;0.001), especially in ma…

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Establishing the upper reference limit of Galectin-3 in healthy blood donors

Introduction Galectin-3 (Gal-3) is an independent predictor of poor outcomes and mortality in patients with heart failure (HF). Thus, it has been proposed as a reliable prognostic biomarker for HF. The definition of reference intervals is mandatory for interpreting the findings of experimental studies and encouraging the routine use of biomarkers in clinical practice. To date, no study assessed the reference intervals of Gal-3 and identified the biological variables that affect its concentration in a well-defined healthy population. The aim of this study was to determine the upper reference limit (URL) of Gal-3 in a highly reliable population of healthy subjects. Materials and methods We re…

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Polimorfismo I/D del gene per l'enzima di conversione dell'angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?

In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96 years)…

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Varianti alleliche del gene per la lectina legante il mannosio (MBL): Un vantaggio o uno svantaggio per la longevità?

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Evaluation of the EPHX1 polymorphism on serum levels of 10, 11- eposside carbamazepine

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Prothrombotic gene variants as risk factors of acute myocardial infarction in young women

Abstract Background Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factors for AMI at young age. Methods We studied Factor V Leiden, FII G20210A, MTHFR C677T and beta-fibrinogen -455G&gt;A variants by real-time PCR in 955 young AMI (362 females) and in 698 AMI (245 females) patients. The data were compared to those obtained in 909 unrelated subjects (458 females) from the general population of the same geographical area (southern Italy). Results In young AMI females, the allelic frequency of either FV Leiden and of FII G20210A was signif…

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The Attenuation of the Bronchodilatory Effect of Deep Inspiration (DI) in COPD Is Related to Reduced Airway Distensibility as Measured by HRCT

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Tropomyosin: A panallergen that causes a worldwide allergic problem

Background: Panallergens are proteins that take part in key processes of organisms and, therefore, are ubiquitously distributed with highly conserved sequences and structures. One class of these panallergens is composed of the tropomyosins. The highly heat-stable tropomyosins comprise the major allergens in crustaceans and mollusks, which make them important food allergens in exposed populations. Tropomyosins are responsible for a widespread immunoglobulin E cross-reactivity among allergens from different sources. Allergic tropomyosins are expressed in many species, including parasites and insects. Methods: This panallergen class is divided, according to it capacity of induced allergic symp…

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The cervical fracture as first symptom of multiple myeloma: A case report

Introduction: Multiple Myeloma (MM) is a clonal disorder characterized by proliferation and accumulation of malignant plasma cells in the bone marrow. Bone disease occurs in approximately 80% of patients with newly diagnosed MM. The cervical spine is the least common site of disease involvement. Case presentation: A 60-year-old female patient was referred to the Department of Neurosurgery for bone pain. A magnetic resonance imaging (MRI) scan showed a pathological fracture of the sixth cervical vertebra (C6). The laboratory tests and the bone marrow examination led to a diagnosis of IgA χ MM (Durie Salmon stage IIIA). The patient underwent a cervical arthrodesis and started systemic Bortez…

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Mutation analysis of the ΔR 608 mutation causing Niemann-Pick disease type B from blood spot cards in sicilian people

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Low serum fetuin-A in renal failure patients on Hemodialisis

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Effect of vitamin supplementation on hyperhomocysteinemia and cardiovascular risk reduction

Homocysteine is a sulfur-containing aminoacid produced during methionine metabolism. Since 1969 the relationship between altered homocysteine metabolism and both coronary and peripheral atherotrombosis has been known; in recent years, experimental evidence has shown that elevated plasma concentrations of homocysteine are associated with an increased risk of atherosclerosis and cardiovascular ischemic events. Several mechanisms by which elevated homocysteine concentrations impair vascular function have been proposed, including impairment of endothelial function, production of reactive oxygen species and consequent oxidation of low-density lipoproteins. Folate and B vitamins, required for rem…

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Glycated albumin is correlated to insulin resistance and β-cell secretory function in subjects at risk for developing diabetes

Insulin resistance and β-cell secretory function represent two main issues in the pathogenesis of type 2 diabetes mellitus (T2DM). Conflicting results have been obtained about the association between glycated albumin (GA) and body mass index (BMI), insulin resistance and β-cell function in diabetic patients. Actually, the relationship (if any) between GA and the markers of glucose homeostasis and insulin resistance in subjects at risk of developing diabetes, has not been completely elucidated yet. Two hundred and one patients undergoing to oral glucose tolerance test (OGTT) were enrolled in the study. Routine laboratory tests, including fasting insulin, were performed at enrollment. GA was …

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Diet Rich in Plant Protein May Prevent Type 2 Diabetes

Purpose : The aim is to show the ideal protein quality and quantity and the dietary composition for the prevention and metabolic control of type 2 diabetes mellitus (T2DM). Introduction Although some reviews demonstrate the advantages of a diet with a higher protein intake, other reviews have observed that a diet high in carbohydrates, with low-glycaemic index carbohydrates and good fibre intake, is equally effective in improving insulin sensitivity. Methods Over 2831 articles were screened, and 24 from the last 5 years were analysed and summarised for this review, using the protein, diabetes and insulin glucose metabolic keywords in Pubmed in June 2019. Results Eleven studies demonstrate t…

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Prothrombotic gene variants in AMI young women

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Arterial stiffness indexes and serum cytokine levels in seronegative spondyloarthritis: relationships between stiffness markers and metabolic and immunoinflammatory variables

Objective: The aim of this study was to investigate the relationship between immunoinflammatory markers and indexes of arterial stiffness in patients with seronegative spondyloarthritis (SpA).Method: We enrolled consecutive patients with inflammatory seronegative SpA referred to a rheumatology outpatient clinic. Control subjects were patients admitted in the same period for any cause other than chronic inflammatory disease or acute cardiovascular and cerebrovascular events. Carotid-femoral pulse wave velocity (PWV) was measured and the aortic pressure waveform was used to calculate the augmentation index (Aix). We also evaluated plasma levels of C-reactive protein (CRP), interleukin (IL)-1β…

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Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C

Summary.  Methylenetetrahydrofolate reductase status, homocysteine and lipoproteins levels have been associated with severity of disease and both rapid and sustained virological response (SVR) in patients with genotype 1 chronic hepatitis C (CHC). We aimed to assess the association of homocysteine and MTHFR status with serum cholesterol levels and their potential links to both histological findings and virological response, in patients with genotype 1 hepatitis C virus (HCV). A total of 119 consecutive patients were evaluated by biopsy and metabolic measurements. A total of 103 healthy blood donors were used as controls. Serum homocysteine and MTHFR C677T mutation were also evaluated. All p…

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Genetic variants beta-fibrinogen gene, especially G-455-A polymorphism, in patients with thromboembolic disease.

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Metabolic sindrome and increased risk for cardiovascular disease

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Fetuin-A is Associated to Serum Calcium and AHSG T256S Genotype but Not to Coronary Artery Calcification

Vascular calcification has been recently associated to an increased cardiovascular risk and mortality. In few studies, Fetuin-A showed an association to coronary artery calcification (CAC), although the physiopathological mechanism underlying this association has not been fully established yet. Seventy-four patients with one or more cardiovascular risk factor and asymptomatic for coronary vasculopathy were included in the study. CAC was evaluated by Agatston score. Serum Fetuin-A levels were determined by ELISA. Molecular analysis of AHSG T256S gene variant (rs4918) was performed by PCR-RFLP. Serum Fetuin-A was correlated to serum calcium (r = 0,321; P = 0,018), but not to serum phosphorous…

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Diagnostic and prognostic value of H-FABP in acute coronary syndrome: Still evidence to bring

Abstract The assessment of chest pain patients presenting to the emergency area (EA) is still a clinical challenge, as the majority of patients are not diagnosed with acute coronary syndrome (ACS). New generation high sensitivity c-Tn (hs-cTn) assays have showed better performances compared to the standard c-Tn. However, hs-Tn still presents some limitations. Hence, novel, early biomarkers are needed in this setting. Among all, heart-type fatty acid binding protein (H-FABP) has been largely investigated. This article reviews the studies evaluating H-FABP performance in diagnosing acute myocardial infarction (AMI) and stratifying chest pain patients by risk. H-FABP optimal performances in AC…

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A new role of CYP2R1 in Multiple Sclerosis

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C677T and A1298C polymorphism of the methylentetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis

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Effects of polymorphism of Methionine Synthase Reductase on total plasma homocysteine in Sicilian populations

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Serum Fetuin A concentration in patients on haemodialysis

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Influence of CYP2C9 polymorphism on serum levels of phenobarbital metabolites

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Factor V Leiden, Prothrombin G20210A mutations are risk factors for deep vein thrombosis

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Changes in serum fetuin-A and inflammatory markers levels in end stage renal disease (ESRD): effect of a single session haemodialysis.

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Clinical usefulness of Glycated Albumin in the diagnosis of diabetes: Results from an Italian study

Objectives: Glycated Albumin (GA) has been proposed as a screening marker for diabetes in Asian countries in the last years. Nevertheless, few studies have been conducted in Caucasian population. The aim of this study is to evaluate the clinical usefulness of GA in diabetes diagnosis in Caucasian asymptomatic subjects considered at risk of diabetes based on medical history and Fasting Plasma Glucose (FPG). Design and methods: Three hundred and thirty-four Caucasian subjects having one or more risk factor for diabetes, and/or FPG ranging from 5.6 mmol/L to 6.9 mmol/L with no symptoms for diabetes were enrolled in this study. Plasma GA was measured by an enzymatic method (quantILab Glycated A…

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Fetuin-A serum levels are not correlated to kidney function in long-lived subjects

Objectives: Serum Fetuin A has been identified as an inhibitor of ectopic calcification. It is reduced in subjects with chronic kidney disease (CKD) and it has been proposed as a potential link between CKD and the higher prevalence of arterial calcification observed in these patients. During ageing both the stiffening of arterial wall due to calcification and a decline in kidney function are frequent. The aim of the study is to investigate if Fetuin A serum levels are associated with ageing and with AHSG T256S polymorphism. Moreover, we aim at investigate whether serum Fetuin A is correlated to kidney function in this setting of senescence. Design and Methods: 256 health long-lived subjects…

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Low Fetuin-A plasma levels are associated with the presence of carotid plaques in patients on dialysis.

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GERD patients: a risk group for xerostomia and oral lesions? A case-control syudy

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SEARCH OF MUTATIONS IN CFTR GENE AND IN GENES ENCODING CFTR INTERACTORS IN PATIENTS BEARING ATYPICAL CISTIC FIBROSIS

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The different daily distribution of proteins does not influence the variations in body composition in a sample of subjects undergoing a low-calorie mediterranean-type diet

BACKGROUND Controversy exists regarding whether the different daily balances of proteins between meals and snacks in a low-calorie diet may influence the effects on body composition (BC) results. Aim of this study is to evaluate BC changes made by a lifestyle intervention in a randomized homogeneous sample of two groups with equal daily caloric reduction but different protein distributions between meals. METHODS Forty-seven men and women (mean age: 32±10 years; Body Mass Index: 28.4±2.4 kg/m2) consumed an energy-restricted diet (788 kcal/d below the requirement) for eight weeks in a free-living contest. Subjects consumed 90.1 g protein/d (1.10±0.16 g/kg/day) and were randomized in an EVEN (…

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41 SERUM FETUIN A/ALPHA2HS-GLYCOPROTEIN AND CD40 L IN TOAST STROKE SUBTYPES: CORRELATION WITH LABORATORY, CLINICAL VARIABLES AND PROGNOSIS

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Fetuin-A and CD40L plasma levels in acute ischemic stroke: differences in relation to TOAST subtype and correlation with clinical and laboratory variables

Abstract Introduction Accumulating evidence suggests that inflammation plays an important role in the acute phase of ischemic stroke. CD40 L is a well recognized atherosclerotic inflammatory marker, whereas recent evidence suggests a pro-inflammatory role of Fetuin-A. To analyze the role of an inflammatory marker such as CD40 L and of a candidate pro-inflammatory marker such as Fetuin-A in acute stroke we evaluated their serum levels in subjects with acute ischemic stroke and their possible association with other laboratory and clinical variables. Materials and methods We enrolled 107 consecutive patients with a diagnosis of acute ischemic stroke admitted to the Internal Medicine Department…

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Endothelial function, adipokine serum levels and white matter hyperintesities in subjects with diabetic foot syndrome.

Abstract Context No study has analyzed the prevalence of white matter hyperintensities (WMHs) in subjects with diabetic foot syndrome (DFS) and their relationship to adipokine serum levels and indexes of endothelial and cognitive performance. Objective To evaluate omentin and vaspin serum levels and the prevalence of WMHs in subjects with DFS and to analyze their relationship with other endothelial, arterial stiffness, and cognitive functions. Design Case-control study enrolling 40 subjects with DFS, 40 diabetic subjects without foot complications, 40 controls with foot lesions without diabetes, and 40 patients without diabetes mellitus. Main Outcome Measures Pulse wave velocity (PWV), augm…

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Biochimica clinica dello stress ossidativo

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Short-term Changes in Gal 3 Circulating Levels After Acute Myocardial Infarction.

Background and Aims Galectin 3 (Gal 3) is a β-galactoside-binding lectin known to play a part in inflammation, adverse remodeling and fibrosis. Gal 3 seems to be linked to atherogenesis and Coronary Artery Disease (CAD), but less is known about the relationship between Gal 3 and acute myocardial infarction (AMI). The aim of the present study is to assess circulating levels of Gal 3 after AMI and to evaluate short-term changes of the biomarker within 5 days from the acute event. Methods Two hundred fifteen confirmed AMI patients (125 STEMI, M/F = 2.8; mean age: 65.4 ± 13.8 years) were enrolled in the present study; two blood samples were collected from each patient: first, within 1 h from ad…

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MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

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Changes in serum Fetuin A and inflammatory markers levels in end stage renal disease (ESRD),effect of a single session haemodialysis

The aim of the present study was to evaluate the effect of a single haemodialysis (HD) session on serum fetuin-A levels, considered a negative acute phase response marker; moreover, we evaluated the behaviour of fibrinogen and high sensitivity C-reactive protein (hsCRP) as acute phase response and chronic/subclinical inflammation markers, respectively, after a single HD session. Serum fetuin-A, albumin, hsCRP and fibrinogen were measured in 72 patients before and after a single HD session. After a single HD session, we observed a significant increase in fibrinogen levels, while fetuin-A levels decreased (p<0.05). Also, hsCRP levels were significantly increased. The significant decrease of f…

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Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyv…

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Vitamin D in malaria: more hypotheses than clues

Abstract Vitamin D is a secosteroid hormone regulating calcium and phosphate metabolism, immune response and brain development. Low blood 25(OH)D levels have been reported in patients affected by infectious diseases caused by parasites, including malaria. Despite the high effectiveness of antimalarials, malaria is burdened with high morbidity and mortality, and the search for additional therapies is rapidly growing. Furthermore, available preventive measures have proved to be barely effective so far. Finding new prevention and therapy tools is a matter of urgency. Studies on animal models and humans have hypothesized some mechanisms by which the hormone can influence malaria pathogenesis, a…

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Separazione della beta-N-metilammino-L-alanina (BMAA) in campioni di liquor cefalorachidiano mediante HPLC con rilevazione fluorimetrica

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Buerger`s Disease and Hyperhomocysteinemia: Is there a Relationship?

Thromboangiitis obliterans, also known as Buerger's disease, is a cause of juvenile lower limb ischaemia. Buerger's disease is idiopathic and one of diagnostic criteria is the absence of atherosclerotic risk factors other than smok- ing. A possible involvement of thrombophilia has been investigated and the role of hyperhomocysteinemia is still matter of discussion. We describe 9 patients with Buerger's disease followed-up for the past 3 years. We found a significant in- crease in circulating homocysteine levels (mean: 31.6 in patients vs 8.2 μmol/L in control subjects). We also analyzed the C677T mutation of MTHFR; 5/9 Buerger's patients were heterozygotes and 4/9 homozygotes for the mutati…

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Vitamin E and vitamin A plasma levels in patients with Mild Cognitive Impairent (MCI)

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Nutrienti nella prevenzione dello Stress Ossidativo

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High plant-based diet and physical activity in women during menopausal transition

Purpose The menopausal transition (MT) is a period when there may be an increase in visceral fat mass and a worsening of cardiometabolic risk factors. Few studies have evaluated the efficacy of plant-based low-calorie diets on groups of women at different stages of MT. The purpose of this study is to compare the effectiveness of a high plant-to-animal protein ratio diet in women of similar age but with different fertility statuses. Design/methodology/approach Subjects were divided into three groups according to their fertility status at the baseline: “premenopausal” (n = 11), “perimenopause” (n = 14) and “postmenopause” (n = 18). Body composition (BC) was measured at the beginning and afte…

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ADIPONECTIN, RESISTIN AND IL-6 PLASMA LEVELS IN SUBJECTS WITH DIABETIC FOOT AND POSSIBLE CORRELATION WITH CLINICAL VARIABLES AND CARDIOVASCULAR CO-MORBIDITY

Abstract Introduction It is very suggestive that diabetic foot is characterized by a pronounced inflammatory reaction and the pathogenic significance of this inflammation has received little attention. On this basis the aim of our study was to evaluate plasma levels of adiponectin, resistin and IL-6 in subjects with diabetic foot in comparison with subjects without foot complications. Materials and methods We recruited 34 subjects with type 2 diabetes mellitus and foot ulceration hospitalized for every condition related to diabetic disease, but not for new vascular events (group A). As controls we recruited 37 patients with type 2 diabetes mellitus without foot ulceration (group B) hospital…

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Homocysteine and MTHFR gene polimorphysms in patients with venous tromboembolic disease

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Non-Skeletal Activities of Vitamin D: From Physiology to Brain Pathology.

Vitamin D is a secosteroid hormone regulating the expression of almost 900 genes, and it is involved in the regulation of calcium and phosphate metabolism, immune response, and brain development. Low blood vitamin D levels have been reported in patients affected by various diseases. Despite a large amount of literature data, there is uncertainty surrounding the role of vitamin D as a serum biomarker in Alzheimer&#8217;s disease (AD) and Parkinson&#8217;s disease (PD). Indeed, the lack of internationally recognized 25(OH)D3 reference measurement procedures and standard materials in the past led to unstandardized serum total 25(OH)D3 results among research and clinical care laboratories. Thus…

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Apo E polymorphism as risk factor for cardiovascular diseases in Sicilian subjects.

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The Homocysteine System

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Glycated albumin as a glycaemic marker in patients with advanced chronic kidney disease and anaemia: a preliminary report.

BACKGROUND: The association between glycated albumin (GA) and glycaemic status has not been fully described in patients with advanced chronic kidney disease (CKD) in relation to anaemia. The aim of this study was to evaluate the relationship between GA and fasting plasma glucose (FPG) and HbA1c in patients with advanced CKD and to evaluate the influence of anaemia in such relationship. MATERIALS AND METHODS: Patients with CKD stage 4 or 5 were included in the study. eGFR was calculated by the CKD-EPI creatinine equation. Plasma GA was measured by an enzymatic method. RESULTS: Eighty-one patients were included in the study, 46 (57%) were males; the mean age was 67 ± 14 years. HbA1c was corre…

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Association of CYP2R1 rs10766197 with MS risk and disease progression

Background MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS p…

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Effects of EPHX1 and CYP3A4 polymorphisms on carbamazepine metabolism in epileptic patients

Antonietta Caruso, Chiara Bellia, Alessia Pivetti, Luisa Agnello, Federica Bazza, Concetta Scazzone, Giulia Bivona, Bruna Lo Sasso, Marcello CiaccioDepartment of Biopathology and Medical and Forensic Biotechnologies, University of Palermo, Palermo, ItalyBackground: The aim of this study was to investigate the effect of two genetic polymorphisms in the coding regions (exon 3 and exon 4) of the EPHX1 gene, ie, 337T&amp;gt;C and 416A&amp;gt;G, respectively, on the metabolism of carbamazepine (CBZ) 10,11-epoxide (the active metabolite of CBZ) by evaluating the variation in serum CBZ 10,11-epoxide levels 4 hours after administration of the drug. Moreover, we reported the genotype frequencies of …

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Vitamin K Deficit leads to Chronic Inflammatory Bowel Disease Diagnosis: a case report

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Plasminogen Activator Inhibitor-1 -675 4G/5G and Methylenetetrahydrofolate reductase gene variants in young acute myocardial infarction and juvenile ischemic stroke

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Immune-inflammatory and metabolic effects of high dose furosemide plus hypertonic saline solution (HSS) treatment in cirrhotic subjects with refractory ascites

Introduction Patients with chronic liver diseases are usually thin as a result of hypermetabolism and malnutrition expressed by reduced levels of leptin and impairment of other adyponectins such as visfatin. Aims We evaluated the metabolic and inflammatory effects of intravenous high-dose furosemide plus hypertonic saline solutions (HSS) compared with repeated paracentesis and a standard oral diuretic schedule, in patients with cirrhosis and refractory ascites. Methods 59 consecutive cirrhotic patients with refractory ascites unresponsive to outpatient treatment. Enrolled subjects were randomized to treatment with intravenous infusion of furosemide (125-250mg⁄bid) plus small volumes of HSS …

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Plasma homocysteine levels in patients with metabolic syndrome

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Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C

Methylenetetrahydrofolate reductase status, homocysteine and lipoproteins levels have been associated with severity of disease and both rapid and sustained virological response (SVR) in patients with genotype 1 chronic hepatitis C (CHC). We aimed to assess the association of homocysteine and MTHFR status with serum cholesterol levels and their potential links to both histological findings and virological response, in patients with genotype 1 hepatitis C virus (HCV). A total of 119 consecutive patients were evaluated by biopsy and metabolic measurements. A total of 103 healthy blood donors were used as controls. Serum homocysteine and MTHFR C677T mutation were also evaluated. All patients un…

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Fetuin-A in elderly: effect of genotype on serum levels

Fetuin-A is a circulating inhibitor of ectopic calcification in vivo; it is decreased in patients with chronic kidney disease and correlates with glomerular filtration rate in patients with coronary artery disease. However, serum levels of Fetuin-A has not been described in elderly. Aim of the study was to evaluate Fetuin-A serum levels together with AHSG T256S genotype in a population of healthy elderly. Serum fetuin-A levels were determined by ELISA. T256S polymorphism of AHSG gene was determined by PCR-RFLP. Serum Fetuin-A was 0,38 ± 0,13 g/l in the group composed by 206 healthy centenarians. Moreover, subjects with at least one S allele had lower Fetuin-A levels (P<001). Interestingly, …

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Hyperhomocysteinemia in patients with cognitive impairment

Cognitive impairment is common in elderly people and represents clinical feature of neurodegenerative diseases. Not all of patients with Mild Cognitive Impairment (MCI) finally develop dementia and it is interesting to investigate the role of possible markers for early diagnosis. Hyperhomocysteinemia is associated to several pathologies including cognitive impairment; aim of this study is to evaluate the correlation between cognitive performance assessment and homocysteine plasma levels. Total 74 patients and 75 healthy controls were enrolled and MCI were defined by a MMSE score lower than 26 after adjustment for years of schooling. Homocysteine plasma levels were determined. Homocysteine l…

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Activity of mannose-binding lectin in centenarians

We analyzed MBL2 gene variants in two cohorts of centenarians, octo-nonagenarians and nonagenarians, and in the general population, one from Sardinia Island (Italy), recruited in the frame of the AKea study, and another from Campania (southern Italy), to search for haplotypes related to longevity. We also assessed in vitro the effect of mannose-binding lectin (MBL) on various human cells at different stage of senescence. The frequency of high and null activity haplotypes was significantly lower, and the frequency of intermediate activity haplotype significantly higher in centenarians and in subjects between 80 and 99 years from both the cohorts as compared each to the general population fro…

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Influence of Nutritional Status and Physical Exercise on Immune Response in Metabolic Syndrome

Metabolic Syndrome (MetS) is a cluster of metabolic alterations mostly related to visceral adiposity, which in turn promotes glucose intolerance and a chronic systemic inflammatory state, characterized by immune cell infiltration. Such immune system activation increases the risk of severe disease subsequent to viral infections. Strong correlations between elevated body mass index (BMI), type-2-diabetes and increased risk of hospitalization after pandemic influenza H1N1 infection have been described. Similarly, a correlation between elevated blood glucose level and SARS-CoV-2 infection severity and mortality has been described, indicating MetS as an important predictor of clinical outcomes i…

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Molecular diagnostics of thrombophilia

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Mid-regional pro-adrenomedullin predicts poor outcome in non-selected patients admitted to an intensive care unit.

AbstractBackgroundMortality risk and outcome in critically ill patients can be predicted by scoring systems, such as APACHE and SAPS. The identification of prognostic biomarkers, simple to measure upon admission to an intensive care unit (ICU) is an open issue. The aim of this observational study was to assess the prognostic value of plasma mid-regional pro-adrenomedullin (MR-proADM) at ICU admission in non-selected patients in comparison to Acute Physiology and Chronic Health Evaluation II (APACHEII) and Simplified Acute Physiology Score II (SAPSII) scores.MethodsAPACHEII and SAPSII scores were calculated after 24 h from ICU admission. Plasma MR-proADM levels were measured by TRACE-Kryptor…

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Evaluation of plasma homocysteine levels and metabolic sindrome in patients with cardiovascular disease

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Glycated Albumin for Glycemic Control in T2DM Population: A Multi-Dimensional Evaluation.

Lucrezia Ferrario,1 Fabrizio Schettini,1 Angelo Avogaro,2 Chiara Bellia,3 Federico Bertuzzi,4 Graziella Bonetti,5 Antonio Ceriello,6 Marcello Ciaccio,3,7 Massimiliano Corsi Romanelli,8,9 Elena Dozio,9 Luca Falqui,10 Angela Girelli,11 Antonio Nicolucci,12 Gianluca Perseghin,13,14 Mario Plebani,15 Umberto Valentini,11 Martina Zaninotto,15 Silvana Castaldi,9,16 Emanuela Foglia1 1Centre for Health Economics, Social and Health Care Management, Universit&amp;agrave; Carlo Cattaneo - LIUC, Castellanza, Italy; 2Department of Medicine, University-Hospital of Padova, Padova, Italy; 3Section of Clinical Biochemistry and Clinical Molecular Medicine, Department of Biopathology and Medical Biotechnologie…

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No effect of MTHFR C677T variant on homocysteine metabolism in Amiotrophic Lateral Sclerosis

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Prevalence and association of the Factor V Leiden and Prothrombin G20210A in healthy subjects and patients with venous tromboembolism

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Use of Troponin as a predictor for cardiovascular diseases in patients with type 2 Diabetes Mellitus

People with type 2 diabetes mellitus (T2DM) have two- to four-fold increased cardiovascular mortality in comparison to the general population. With the identification of new therapeutic targets and hypoglycemic drugs for T2DM, the need for a better stratification of CVD risk has emerged to select patients who may need intensive or specific treatment. At present, risk stratification is based on clinical, demographic, and biochemical factors. High sensitivity cardiac troponin (hs-cTn) increases after several ischemic and non-ischemic insults and it is considered a marker of myocardial injury. This review summarizes the main findings about hs-cTn utilization for risk stratification in people w…

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Utility of serum procalcitonin and C-reactive protein in severity assessment of community-acquired pneumonia in children

OBJECTIVES: Although the importance of serum Procalcitonin (PCT) levels at diagnosis is well established in adult Community-Acquired Pneumonia (CAP), its use remains controversial in pediatric CAP. The aim of our study is to investigate the role of PCT and C-Reactive Protein (CRP) in the assessment of pediatric CAP severity defined by the extent of consolidation on chest X-rays and the presence of pleural effusion. In this particular setting, no clinical severity score is available at present and chest X-ray, although important for diagnosis confirmation, is not recommended as routine test. DESIGN AND METHODS: The study involved 119 children admitted to the Department of Pediatric Infectiou…

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Molecular analysis of genes encoding CFTR interactors of SLC26 family in CF patients: preliminary results

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Acute troponin i increase in absence of obstructive coronary disease: A case of takotsubo syndrome

A 66-year-old woman was admitted to the Emergency Department of Policlinico P. Giaccone, in Palermo, for non-radiating chest pain that occurred after an emotional stress. Her medical history included a positive family history for cardiovascular disease, arterial hypertension, gastro-esophageal reflux disease, and anxiety-depressive syndrome. Upon admission, the electrocardiogram showed diffuse ST-T abnormalities with an elevation of the ST segment; Troponin I was 3790 ng/L, creatine phosphokinase was 374 U/L, which became normal within 48 hours. No evidence of significant coronary artery stenosis was detected on the angiography. The echocardiogram showed apical akinesia and hyperkinesia of …

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Effect of MTHFR polymorphism on homocysteine level after methionine loading in thromboembolic patients.

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Mutations in Factor V Leiden (G1691A) and Prothrombin (G2021A) genes are important risk factors for venous thromboembolism

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Curva da carico orale di metionina nella valutazione di pazienti affetti da patologia trombotica

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Oxidative damage markers

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Frequiencies of PAI-1 4G/5G polymorphism in Elderly

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VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients

Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status. The purpose of our study was to assess the genetic variants of VDBP and CYP27B1 in MS patients and in a control group. A total of 192 subjects, including 100 MS patients a…

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Comparison of two assays for serum homocysteine measurement

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MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Amiotrophic lateral sclerosis (ALS) is a neurological disorder with a multifactorial etiopathogenesis including excitotoxicity, intracellular calcium increase and mitochondrial damage together with oxidative stress and apoptosis. Overall, the relationship between homocysteine (Hcy), motoneuron death and ALS appears to be complex and still under investigation. It has been already shown that Hcy is elevated in plasma and cerebrospinal fluid (CSF) of ALS patients, although mechanisms of hyperhomocysteinemia have not been elucidated yet. MTHFR C677T variant is the most common genetic determinant of increased homocysteinemia, but no studies regarding the effect of this polymorphism in ALS patien…

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APO E allelic variants in healthy elderly people

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CSF HOMOCYSTEINE LEVELS IN AMYOTROPHC LATERAL SCLEROSIS

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CSF homocysteine levels in Amyotrophic Lateral Sclerosis

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Therapeutical approach to plasma homocysteine and cardiovascular risk reduction

Marcello Ciaccio, Giulia Bivona, Chiara BelliaDepartment of Medical Biotechnologies and Forensic Medicine, Faculty of Medicine, University of Palermo, ItalyAbstract: Homocysteine is a sulfur-containing aminoacid produced during metabolism of methionine. Since 1969 the relationship between altered homocysteine metabolism and both coronary and peripheral atherotrombosis is known; in recent years experimental evidences have shown that elevated plasma levels of homocysteine are associated with an increased risk of atherosclerosis and cardiovascular ischemic events. Several mechanisms by which elevated homocysteine impairs vascular function have been proposed, including impairment of endothelial…

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Clinical utilization of natriuretic peptide determination in acute congestive heart failure

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If we eat soy, do we keep the beneficial effects of the Mediterranean diet?

PurposeThis study aims to evaluate if soya consumption can compromise or positively influence the effects of the Mediterranean diet (MD).Design/methodology/approachA full literature review has been conducted as part of a proposal of a new point of view on the consumption of soya and its derivatives in areas where until a few decades ago this type of food did not exist at all.FindingsThere does not seem to be any contraindications for soy systematic use, therefore, excluding historical-geographical reasons, soya could be included in an MD without altering the benefits associated with it.Practical implicationsSoya is not advised as a typical food in the MD, but promoting its use could probabl…

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Low serum Fetuin A levels in renal failure patients on haemodialysis

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Hyperhomocysteinemia and methylenetetrahydrofolare reductase 677C→T and 1298A→C mutations in patients with venous thromboembolic disease

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The risk of cardiovascular events is reduced by lowering hyperhomocysteinemia short term B vitamins therapy

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Dangerous ratio modification of plasma and erythrocyte S-adenosylmethionine/S-adenosylhomocysteine in cardiovascular disease

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