Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.

Background and aims: Lower 25-Hydroxyvitamin D (25[OH]D) serum lev- els have been associated with the severity of liver fibrosis in genotype 1 chronic hepatitis C patients (G1CHC). In addition, a recent genome-wide study identified genetic variants (rs12785878, near dehydrocholesterol reduc- tase, DHCR7; rs10741657, near CYP2R1; and rs7041, near vitamin D binding protein, GC) affecting 25(OH)D serum levels in healthy populations. We aimed to assess the association between vitamin D serum levels and its genetic determinants, with the severity of liver fibrosis. Material and methods: Two hundred sixty patients with biopsy-proven G1CHC were consecutively evaluated. The 25(OH)D serum levels wer…

Association between hypovitaminosis D and systemic sclerosis: True or fake?

Abstract Background Vitamin D insufficiency/deficiency is considered a major factor triggering and enhancing several autoimmune disorders; hypovitaminosis D has been reported to be common in Systemic Sclerosis (SSc). Previous studies assessing vitamin D insufficiency/deficiency in SSc have been reviewed, and the relation with pathogenesis and clinical features has been examined. Content Eligibility criteria were: reporting measurement of Vitamin D serum levels in all participants and evaluating adult onset-SSc individuals as patients group. Results: The association between clinical features and low hormone levels is controversial. Manifold data have shown vitamin D insufficiency/deficiency …

Methionine synthase polymorphism A2756G and its association with thromboembolic disease

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 (<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…

Vitamin D and Multiple Sclerosis: An Open-Ended Story

Multiple Sclerosis (MS) is a chronic inflammatory autoimmune disease of the Central Nervous System (CNS). Genetic, epigenetic and environmental factors interact together, contributing to the complex pathogenesis of the disease. In the last decades, the role of hypovitaminosis D on MS risk was hypothesised. Several factors drive the regulation of vitamin D status, including genetics. The current review summarises the literature evidence on the association between vitamin D and MS, with a focus on the genetic polymorphisms in vitamin D-related genes. The variants of the genes codifying Vitamin D Receptor (VDR), Vitamin D Binding Protein (VDBP) and CYP enzymes have been investigated, but the f…

Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients.

Phenotypic improvement of hemoglobinopathies such as sickle cell disease and β-thalassemia (β-thal) has been shown in patients with high levels of Hb F. Among the drugs proposed to increase Hb F production, hydroxyurea (HU) is currently the only one proven to improve the clinical course of these diseases. However, Hb F increase and patient's response are highly variable, indicating that new pharmacological agents could be useful for patients not responding to HU or showing a reduction of response during long-term therapy. In this study we evaluated the efficacy of rapamycin, a lypophilic macrolide used for the prevention of acute rejection in renal transplant recipients, as an inducer of Hb…

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 …

COVID-19 and Alzheimer’s Disease

The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a neurotropic virus with a high neuroinvasive potential. Indeed, more than one-third of patients develop neurological symptoms, including confusion, headache, and hypogeusia/ageusia. However, long-term neurological consequences have received little interest compared to respiratory, cardiovascular, and renal manifestations. Several mechanisms have been proposed to explain the potential SARS-CoV-2 neurological injury that could lead to the development of neurodegenerative diseases, including Alzheimer’s Disease (AD). A mutualistic relationship between AD and COVID-19 seems to exist. On the one hand, COVID-19 patients seem to …

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…

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…

Vitamin D increases the production of IL-10 by regulatory T cells in patients with systemic sclerosis

OBJECTIVES: Vitamin D status influences the risk to develop autoimmune diseases affecting the percentage and/or functions of regulatory T cells (Tregs). Since low levels of 25 (OH) D have been decreased in patients with systemic sclerosis (SSc), we aimed to study the effect of Vitamin D3 (cholecalciferol) supplementation on Tregs frequencies and functions. METHODS: Peripheral blood and sera samples were obtained from 45 SSc patients and controls (HC). A number of eighteen SSc patients had consumed Cholecalciferol (orally) at the dose of 25.000 UI/month for 6 months at the time of enrollment. 25(OH)D serum levels were measured and VDR polymorphisms, were genotyped by polymerase chain reactio…

Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase MTHFR A1298C gene polymorphism in subjects affected by thromboembolic disease

Monocyte distribution width (MDW) as a screening tool for early detecting sepsis: a systematic review and meta-analysis

Abstract Objectives Monocyte distribution has recently emerged as a promising biomarker of sepsis, especially in acute setting, such as Emergency Department and Intensive Care Unit. This study aimed to evaluate the accuracy of monocyte distribution width (MDW) for early detecting patients with sepsis by performing a systemic review and meta-analysis of published studies. Methods Relevant publications were identified by a systematic literature search on PubMed and Google Scholar from inception to September 07, 2021. Studies were divided into two groups based on the sepsis criteria applied, namely sepsis-2 or sepsis-3. Results Ten studies including 9,475 individuals, of whom 1,370 with sepsis…

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…

A new tool for sepsis screening in the Emergency Department

Abstract Objectives In this study, we developed and evaluated the diagnostic accuracy of the Sepsis Index for early sepsis screening in the Emergency Department (ED). Methods Sepsis Index is based on the combination of monocyte distribution width (MDW) and mean monocyte volume (MMV). Sepsis Index≥1 was selected to define sepsis. We tested its diagnostic accuracy in an ED population stratified in four groups: controls, Systemic Inflammatory Response Syndrome (SIRS), infection, and sepsis, according to Sepsis-2 criteria. Results Patients with sepsis displayed higher median Sepsis Index value than patients without sepsis. At the receiver operating characterictis (ROC) curve analysis for the pr…

Foxp3 and gata3 polymorphisms, vitamin d3 and multiple sclerosis

Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs…

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…

Vitamina D, ipertensione arteriosa e sistema renina-angiotensina

Endothelial dysfunction and vitamin d status in essential hypertension, prelimary results

Association between homocysteinemia and metabolic syndrome in patients with cardiovascular disease

Abstract BACKGROUND: This is an observational study undertaken in aim to evaluate the association between metabolic syndrome (MS) and high homocysteinemia (HHcy) in relation with cardiovascular disease (CVD). METHODS: The study involved 126 subjects with angiographically documented CVD and 65 healthy subjects. MS has been diagnosed according to the ATP III criteria and plasma homocysteine concentration has been evaluated. RESULTS: In patients with CVD the prevalence of MS and HHcy is 17.4% and 25.4% respectively; MS coexists with HHcy in 67.2% of patients; analogous results can be observed among men and women. HHcy and MS are associated with CVD (OR 2.53, 95% CI 1.95-12.43 and OR 5.74, 95% …

FOKI AND BSMI VITAMIN D RECEPTOR GENE POLYMORPHISMS, PLASMA RENIN ACTIVITY AND ESSENTIAL ARTERIAL HYPERTENSION

Objective: Our aims were to analyze the relationship between 25hydroxyvitamin D(25[OH]D) plasma levels and clinical and ambulatory blood pressure (BP) values, and to identify any possible association between hypertension and FokI and BsmI vitamin D receptor (VDR) gene polymorphisms in essential hypertensive patients. Design and method: Seventyone essential hypertensive patients and seventytwo controls, 18–75 years old, were enrolled. Clinical physical examination, routine blood chemistry, clinical BP, 24 hour ambulatory blood pressure monitoring, 25[OH]D and Plasma Renin Activity (PRA) assay, and FokI and BsmI VDR polymorphisms analysis were obtained. Results:We observed a significant negat…

Biochimica e Fisiopatologia delle Specie Reattive dell’Ossigeno

Correlation between Low Folate Levels and Hyperhomocysteinemia, but not with Vitamin B12 in Hypertensive Patients.

INTRODUCTION: Hypertension is considered to be among the most important risk factors for cardiovascular and cerebrovascular diseases. In recent years, several investigators have reported that high plasma levels of total homocysteine (t-hcy) has a key role in the development of hypertension, and the deficiency of B complex vitamins could increase the risk of hypertension. The purpose of this study was to investigate the relationship between plasma homocysteine, folate and vitamin B12 in hypertensive patients. MATERIALS AND METHODS: In 116 patients with hypertension and 81 healthy subjects, total plasma homocysteine, vitamin B12 and folate levels were measured. RESULTS AND DISCUSSION: Homocys…

Study on the efficacy of Rapamicin as an inducer of fetal hemoglobin in primary erythroid cultures from patientes with hemoglobinopathies

Serum Vitamin D as a Biomarker in Autoimmune, Psychiatric and Neurodegenerative Diseases.

Vitamin D is a steroid hormone regulating calcium-phosphorus homeostasis, immune response and brain function. In the past thirty years, an increasing number of cohort studies, meta-analyses and randomized controlled trials (RTCs) evaluated the serum levels of 25-hydroxyvitamin D [25(OH)D], which is considered the Vitamin D status biomarker, in patients affected by neurological, psychiatric and autoimmune diseases. Although an association between low 25(OH)D serum levels and the prevalence of these diseases has been found, it is still unclear whether the serum 25(OH)D measurement can be clinically useful as a biomarker for diagnosis, prognosis and predicting treatment response in neurodegene…

Vitamin D levels and IL28B polymorphisms are related to rapid virological response to standard of care in genotype 1 chronic hepatitis C.

BACKGROUND: Genotype 1 (G1) chronic hepatitis C (CHC) patients achieving a rapid virological response (RVR) on pegylated interferon (PEG-IFN) plus ribavirin have a high chance of sustained virological response (SVR), influenced by IL28B status, viral load, fibrosis and insulin resistance. We assessed whether 25-hydroxyvitamin D (25[OH]D) serum levels are linked to RVR and can be used together with IL28B to construct a pretreatment model to predict RVR. METHODS: A total of 117 consecutive patients with G1 CHC were evaluated by biopsy and anthropometric and metabolic measurements. 25(OH)D serum levels were measured by HPLC. IL28B rs12979860 and rs8099917 polymorphisms were also evaluated. All…

Clinical Utility of Midregional Proadrenomedullin in Patients with COVID-19

Abstract Objective The aim of the study was to assess the role of midregional proadrenomedullin (MR-proADM) in patients with COVID-19. Methods We included 110 patients hospitalized for COVID-19. Biochemical biomarkers, including MR-proADM, were measured at admission. The association of plasma MR-proADM levels with COVID-19 severity, defined as a requirement for mechanical ventilation or in-hospital mortality, was evaluated. Results Patients showed increased levels of MR-proADM. In addition, MR-proADM was higher in patients who died during hospitalization than in patients who survived (median, 2.59 nmol/L; interquartile range, 2.3–2.95 vs median, 0.82 nmol/L; interquartile range, 0.57–1.03; …

Metabolic sindrome and increased risk for cardiovascular disease

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…

CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

A new role of CYP2R1 in Multiple Sclerosis

VITAMIN D RECEPTOR FOKI AND BSMI POLYMORPHISMS DO NOT SEEM TO BE ASSOCIATED WITH ARTERIAL HYPERTENSION

Potential role of Vitamin K2 plasma levels determination in Alzheimer's Disease

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

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

ENDOTHELIAL DYSFUNCTION AND VITAMIN D STATUS IN ESSENTIAL HYPERTENSION. PRELIMARY RESULTS

Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients.

Phenotypic improvement of hemoglobinopathies such as sickle cell disease and β-thalassemia (β-thal) has been shown in patients with high levels of Hb F. Among the drugs proposed to increase Hb F production, hydroxyurea (HU) is currently the only one proven to improve the clinical course of these diseases. However, Hb F increase and patient's response are highly variable, indicating that new pharmacological agents could be useful for patients not responding to HU or showing a reduction of response during long-term therapy. In this study we evaluated the efficacy of rapamycin, a lypophilic macrolide used for the prevention of acute rejection in renal transplant recipients, as an inducer of Hb…

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

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

Standardized measurement of circulating vitamin D [25(OH)D] and its putative role as a serum biomarker in Alzheimer's disease and Parkinson's disease

The current review provides an overview on the development of 25(OH)D measurement standardization tools over the last three decades and clarifies whether there is a role as a serum biomarker for vitamin D in neurological diseases. In the past, a lack of internationally recognized 25(OH)D reference measurement procedures and reference standard materials led to unstandardized serum total 25(OH)D results among research and clinical care laboratories. The vitamin D Standardization Program (VDSP) has been introduced in 2010 to address this problem, however, vitamin D External Quality Assessment Scheme (DEQAS) reports still show substantial sample- to- sample variability. Further, immunoassays, w…

RELATIONSHIP BETWEEN VITAMIN D STATUS AND EARLY ARTERIAL CHANGES IN PRIMARY HYPERTENSION. PRELIMINARY DATA

Low vitamin D serum level is related to severe fibrosis and low responsiveness to interferon-based therapy in genotype 1 chronic hepatitis C

UNLABELLED 25-Hydroxyvitamin D (25[OH]D) can potentially interfere with inflammatory response and fibrogenesis. Its role in disease progression in chronic hepatitis C (CHC) and its relation with histological and sustained virological response (SVR) to therapy are unknown. One hundred ninety-seven patients with biopsy-proven genotype 1 (G1) CHC and 49 healthy subjects matched by age and sex were consecutively evaluated. One hundred sixty-seven patients underwent antiviral therapy with pegylated interferon plus ribavirin. The 25(OH)D serum levels were measured by high-pressure liquid chromatography. Tissue expression of cytochrome (CY) P27A1 and CYP2R1, liver 25-hydroxylating enzymes, were as…

Monocyte distribution width (MDW) as a screening tool for sepsis in the Emergency Department

Abstract Objectives The diagnosis of sepsis in the Emergency Department (ED) is challenging and a reliable biomarker is needed. The current study aimed to evaluate the diagnostic accuracy of monocyte distribution width (MDW) for the early identification of sepsis in the ED. Methods We performed a large observational study including consecutive adult patients (≥18 years of age) presenting to the ED between September and November 2019, with an order for complete blood count (CBC) evaluation. A total of 2,215 patients were enrolled and classified based on Sepsis-2 criteria as the control group (1,855), infection group (172), Systemic Inflammatory Response Syndrome (SIRS) group (100), and sepsi…

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

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

Reference interval by the indirect approach of serum thyrotropin (TSH) in a Mediterranean adult population and the association with age and gender.

Abstract Background The serum concentration of thyrotropin (TSH) represents a first-line test in diagnostic algorithms. The estimation of TSH reference intervals (RIs) is still a matter of debate due to the high prevalence of subclinical disease making difficult the definition of truly healthy subjects. The aim of this study was to estimate TSH RIs in healthy subjects and to evaluate the effect of age and gender on TSH concentration. Methods Forty-four thousand one hundred and fifty-six TSH data were collected between July 2012 and April 2018 at the Department of Laboratory Medicine, University-Hospital, Palermo. Common and sex-specific RIs were estimated by Arzideh’s indirect method after …

Comparative analysis of biochip mosaic-based indirect immunofluorescence with enzyme-linked immunosorbent assay for diagnosing myasthenia gravis

Background: The detection of anti-acetylcholine receptor (AChR) and anti-muscle-specific tyrosine kinase (MuSK) antibodies is useful in myasthenia gravis (MG) diagnosis and management. BIOCHIP mosaic-based indirect immunofluorescence is a novel analytical method, which employs the simultaneous detection of anti-AChR and anti-MuSK antibodies in a single miniature incubation field. In this study, we compare, for the first time, the BIOCHIP MG mosaic with conventional enzyme-linked immunosorbent assay (ELISA) in the diagnosis of MG. Methods: A total of 71 patients with MG diagnosis were included in the study. Anti-AChR and anti-MuSK antibodies were measured separately by two different ELISA an…

Vitamina D e biomarcatori di attivazione endoteliale e di infiammazione nell'ipertensione arteriosa essenziale

Association between angiotensin I - converting enzyme gene insertion/deletion polymorphism and thromboembolic disease.

PP.42.06

The Value of a Complete Blood Count (CBC) for Sepsis Diagnosis and Prognosis.

Sepsis represents an important global health burden due to its high mortality and morbidity. The rapid detection of sepsis is crucial in order to prevent adverse outcomes and reduce mortality. However, the diagnosis of sepsis is still challenging and many efforts have been made to identify reliable biomarkers. Unfortunately, many investigated biomarkers have several limitations that do not support their introduction in clinical practice, such as moderate diagnostic and prognostic accuracy, long turn-around time, and high-costs. Complete blood count represents instead a precious test that provides a wealth of information on individual health status. It can guide clinicians to early-identify …

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…

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

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…

Study on the efficacy of Rapamicin as an inducer of fetal hemoglobin in primary erythroid cultures from patientes with hemoglobinopathies

Genetic analysis about the wellknown relationship between Alzheimer Demaentia outbreak and APP gene overexpression in Down young patients

Evaluations and new relationships between renal failure and homocysteine plasma levels in patients with chronic renal failure

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

Nutrienti nella prevenzione dello Stress Ossidativo

Monocyte Distribution Width (MDW) as a biomarker of sepsis: An evidenced-based laboratory medicine approach.

Monocyte Distribution Width (MDW) is a new generation cell blood count parameter providing a measure of monocyte anisocytosis. In the last decades, it has emerged as a reliable biomarker of sepsis in the acute setting, especially emergency department, and intensive care unit. MDW has several advantages over commonly used sepsis biomarkers, including low-cost, ease and speed of measurement. The clinical usefulness of MDW has been established in several studies and some clinical laboratory medicines have already implemented it in their routine. In this article, we describe the analytical and clinical features of MDW to guide its appropriate use in clinical practice by integrating the research…

The role of prothrombotic variants in acute ischemic stroke

Homocysteine and MTHFR gene polimorphysms in patients with venous tromboembolic disease

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

The Homocysteine System

The Role of Vitamin D as a Biomarker in Alzheimer’s Disease

Vitamin D and cognition is a popular association, which led to a remarkable body of literature data in the past 50 years. The brain can synthesize, catabolize, and receive Vitamin D, which has been proved to regulate many cellular processes in neurons and microglia. Vitamin D helps synaptic plasticity and neurotransmission in dopaminergic neural circuits and exerts anti-inflammatory and neuroprotective activities within the brain by reducing the synthesis of pro-inflammatory cytokines and the oxidative stress load. Further, Vitamin D action in the brain has been related to the clearance of amyloid plaques, which represent a feature of Alzheimer Disease (AD), by the immune cell. Based on the…

RELATIONSHIP BETWEEN VITAMIN D STATUS AND EARLY ARTERIAL CHANGES IN PRIMARY HYPERTENSION. PRELIMINARY DATA

Plasma homocysteine levels in patients with chronic renal failure.

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

Effect of genetics polymorphism of carbamazepine – metabolizing enzymes in epileptic patients

A case of Hepatitis C virus and mixed cryoglobulinemia in a patient with Kidney Disease

Validation of monocyte distribution width decisional cutoff for sepsis detection in the acute setting

not available

Valutazione dei livelli ematici di omocisteina, acido folico, vitamine B6 e B12 in soggetti anziani con funzioni cognitive alterate in seguito a stroke

Neurogranin as a Reliable Biomarker for Synaptic Dysfunction in Alzheimer’s Disease

(1) Background: Neurogranin is a post-synaptic protein expressed in the neurons of the hippocampus and cerebral cortex. It has been recently proposed as a promising biomarker of synaptic dysfunction, especially in Alzheimer’s disease (AD). However, more efforts are needed before introducing it in clinical practice, including the definition of its reference interval (RI). The aim of the study was to establish the RI of cerebrospinal fluid (CSF) neurogranin levels in controls and individuals with non-neurodegenerative neurological diseases; (2) We included a total of 136 individuals that were sub-grouped as follows: AD patients (n = 33), patients with non-neurodegenerative neurological …

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

Plasma omocysteine levels in patients with chronic renal failure

Preliminary reference intervals of Glycated Albumin in healthy Caucasian pregnant women

Abstract Background and aims Glycated albumin (GA) could represent a useful biomarker in pregnant women for diagnosing and monitoring gestational diabetes mellitus (GDM). The establishment of reference intervals (RI) is mandatory before assessing its clinical usefulness. The RIs of GA in healthy pregnant women are not well defined. The aim of the current study was to establish the RI in a cohort consisting of Caucasian pregnant women without overt diabetes mellitus or gestational diabetes mellitus. Methods The study included 183 healthy pregnant women. GA was measured on plasma by an enzymatic method (quantILab Glycated Albumin, IL Werfen, Germany). The RI was calculated by the non-parametr…

Vitamin D receptor gene polymorphisms and plasma renin activity in essential hypertensive individuals.

Several studies analyzed 25-hydroxyvitamin D (25[OH]D) and blood pressure (BP) relationship with mixed results. Moreover, a relationship between the risk of hypertension and vitamin D receptor (VDR) gene polymorphisms, FokI and BsmI, was reported. This study was aimed to analyze these relationships in essential hypertensive (EH) patients. Seventy-one EH patients, 18-75 years old, were enrolled. Patients underwent clinical BP, 24-h ambulatory BP monitoring, 25[OH]D and plasma renin activity (PRA) evaluations. FokI and BsmI VDR polymorphisms were analyzed and compared with those of 72 healthy controls. In EH patients, the median 25[OH]D levels were lower than 30 ng ml(-1). We found a signific…

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

Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma homocysteine concentration and the risk for vascular disease.

Epidemiological evidence has revealed that hyperhomocysteinemia increases the risk for vascular disease. Methionine Synthase Reductase (MTRR) is one of several key enzymes in the homocysteine metabolic pathway and its mutant forms have been implicated in abnormal homocysteine accumulation. In this study, we determined total plasma homocysteine levels and MTRR A66G polymorphism in 114 patients with vascular disease: 58 patients with deep-vein thrombosis, 56 patients with arterial thrombosis, and 95 healthy subjects from the Sicilian population. Our data confirmed that, as already reported, moderately elevated t-Hcy levels are correlated with an increased risk of vascular disease. In our stud…

Evaluation of patients with thrombotic stroke by methionine loading oral curve

Evaluation of Alpha-Synuclein Cerebrospinal Fluid Levels in Several Neurological Disorders

(1) Background: Alpha-synuclein (α-syn) is a presynaptic neuronal protein that regulates several neuronal functions. In recent decades, the role of α-syn as a biomarker of neurodegenerative diseases has been explored, especially in synucleinopathies. However, only a few studies have assessed its role as biomarker in other neurological disorders. The aim of the study was to evaluate cerebrospinal fluid (CSF) α-syn levels in several neurological disorders; (2) Methods: We measured CSF α-syn levels by a commercial ELISA kit in 158 patients classified in the following group: controls, Alzheimer’s Disease (AD), cerebrovascular diseases, inflammatory central nervous …

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

I polimorfismi del gene VDR FokI e BsmI non sembrano essere associati all’ipertensione arteriosa

RAZIONALE. Il nostro obiettivo è stato quello di analizzare la relazione tra livelli plasmatici di VitaminaD (VitD) e valori di pressione arteriosa clinica ed ambulatoria in ipertesi essenziali e di identificare un’eventuale associazione fra l’ipertensione e i polimorfismi del gene VDR, FokI e BsmI. CASISTICA E METODI. Abbiamo arruolato 71 ipertesi essenziali e 72 controlli di età compresa fra 18 e 75 anni. Nei pazienti sono stati valutati: pressione arteriosa clinica, monitoraggio ambulatorio della pressione arteriosa delle 24 ore, parametri antropometrici, indagini bioumorali di routine e livelli plasmatici di VitD con metodica HPLC. Entrambi i gruppi sono stati sottoposti a tipizzazione …

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

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

FOKI AND BSMI VITAMIN D RECEPTOR GENE POLYMORPHISMS, ARE THEY ASSOCIATED WITH INTIMA MEDIA THICKNESS IN ESSENTIAL HYPERTENSIVE INDIVIDUALS

Objective: Analyzing 25hydroxyvitaminD (25[OH]D) serum levels and common carotid intimamedia thickness (IMT) relationship, and evaluating the association of FokI and BsmI vitamin D receptor (VDR) gene polymorphisms with IMT in essential hypertensive patients were our study aims. Design and method: We enrolled seventyone essential hypertensive patients, 18–75 years old. Patients underwent clinical blood pressure (BP) measurement, 24 hour ambulatory blood pressure monitoring, routine blood test, 25[OH]D assay and common carotid IMT evaluation. FokI and BsmIVDRpolymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP).

Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings

Background: Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, an…

Vitamin D, blood pressure and intima media thickness in essential hypertension

Apoliprotein E gene polymorphism in subjects affected by cardiovascular disease in Sicilian populations

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…

Genetic testing on Dry Blood Spot Card samples of Sicilian people in aim to check out the ΔR 608 mutation causing Niemann-Pick Disease Type B.

Antioxidant activity in solution and biological membranes of seven cultivars of Sicilian peach (Prunus Persica, L. Mill).

CORRELAZIONE TRA ALDOSTERONE E PARATORMONE PLASMATICI NELL’IPERTENSIONE ARTERIOSA ESSENZIALE

Studi sperimentali e clinici hanno indotto ad ipotizzare una interazione fisiopatologica tra aldosterone (PAC) e paratormone (PTH) nello sviluppo dell’ipertensione arteriosa e delle alterazioni cardiovascolari . Scopo di questo studio è stato di valutare il rapporto tra PAC e PTH nell’ipertensione essenziale (EH) e le eventuali interazioni con FGF23, proteina modulatrice della secrezione di PTH. In 105 H ed in 50 controlli sani sono stati analizzati i livelli plasmatici di PAC, PTH, FGF23 Vitamina D. L’analisi di correlazione multipla condotta considerando PAC come variabile dipendente ha mostrato una correlazione di PAC con FGF23 (β = 0.337; p = 0.0021) e con PTH (β = 0.241; p = 0.039) ind…

Methionine loading test and genetic risk factors in subjects affected by thromboembolic disease

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

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