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Lionetto L.,Advanced Molecular Diagnostics Unit
The journal of headache and pain | Year: 2013

The term omics consist of three main areas of molecular biology, such as genomics, proteomics and metabolomics. The omics synergism recognise migraine as an ideal study model, due to its multifactorial nature. In this review, the plainly research data featuring in this complex network are reported and analyzed, as single or multiple factor in pathophysiology of migraine. The future of migraine biomolecular research shall be focused on networking among these different and hierarchical disciplines. We have to look for its Ariadne's tread, in order to see the whole painting of migraine molecular biology. Source

Sabato D.,University of Rome La Sapienza | Lionetto L.,Advanced Molecular Diagnostics Unit | Martelletti P.,University of Rome La Sapienza | Martelletti P.,Regional Referral Headache Center
Expert Opinion on Investigational Drugs | Year: 2015

Introduction: Migraine is a highly disabling neurovascular disorder. 'The complex and multifactorial properties of migraine pathogenesis provide the opportunity to identify new therapeutic targets from a wide range of receptors. Areas covered: In this editorial, the authors focus on future pharmacological interventions for acutemigraine including: 5-HT receptors and their agonists, calcitonin gene-related peptide receptors and their antagonists, PAC1 receptors and their antagonists, glutamate receptors and some of their antagonists as well as transient receptor potential channels and their antagonists. The authors also discuss preventative treatments for migraine that are currently in development. Expert opinion: Future pharmaceutical research that looks at the well-known mechanisms involved in the pathophysiology of migraine should aim to overcome the existing limitations of each pharmacological class and their side effects. There has lately been particular interest in the role of glutamate receptors, particularly metabotropic glutamate receptors, in the pathophysiology of migraine. These receptors may be potentially viable drug targets for migraine in the future. © 2015 Informa UK, Ltd. Source

Iordanidou M.,Democritus University of Thrace | Giannakopoulou E.,Democritus University of Thrace | Tavridou A.,Democritus University of Thrace | Gentile G.,Advanced Molecular Diagnostics Unit | And 5 more authors.
OMICS A Journal of Integrative Biology | Year: 2014

Vitamin D levels have been suggested as a marker of disease severity in asthmatic children. Our aim was to investigate possible associations between the vitamin D receptor (VDR) FokI, BsmI, ApaI, and TaqI polymorphisms and asthma susceptibility and control in children. 127 Greek children with asthma and 91 healthy controls were genotyped for VDR FokI, BsmI ApaI, and TaqI polymorphisms using Sequenom MassARRAY iPLEX platform. Asthma control was assessed according to the Global Initiative for Asthma guidelines (GINA) and Childhood Asthma Control Test (C-ACT) and, for the first time, tested for its possible association with VDR SNPs. Asthmatic children were grouped as "controlled (n=49)", "partially controlled (n=38)," and "uncontrolled (n=40)," according to GINA classification. No association was found between VDR polymorphisms and asthma prevalence. Asthmatic children with the VDR ApaI aa genotype had significantly higher C-ACT score compared with asthmatic children carrying the AA/AC VDR ApaI genotypes (p=0.011). The frequency of VDR ApaI aa genotype was significantly higher in controlled asthma group (n=92) than uncontrolled asthma group (n=35), according to C-ACT (24.5% vs 0.0%, p<0.001) and GINA (32.7% vs 7.5%, p=0.001). Also, VDR ApaI aa genotype was negatively associated with limitation in daily activities because of asthma (p=0.004). VDR ApaI aa genotype was positively associated with well-controlled asthma according to GINA and C-ACT questionnaire and negatively associated with decreased limitation in daily activities in asthmatic children, further supporting the importance of Vitamin D pathway in asthma. Copyright © 2014 Mary Ann Liebert, Inc. Source

Curto M.,International Consortium for Psychotic and Mood Disorders | Curto M.,Harvard University | Curto M.,University of Rome La Sapienza | Girardi N.,University of Rome La Sapienza | And 5 more authors.
Current Psychiatry Reports | Year: 2016

Clozapine is exceptionally effective in psychotic disorders and can reduce suicidal risk. Nevertheless, its use is limited due to potentially life-threatening adverse effects, including myocarditis and cardiomyopathy. Given their clinical importance, we systematically reviewed research on adverse cardiac effects of clozapine, aiming to improve estimates of their incidence, summarize features supporting their diagnosis, and evaluate proposed monitoring procedures. Incidence of early (≤2 months) myocarditis ranges from <0.1 to 1.0 % and later (3–12 months) cardiomyopathy about 10 times less. Diagnosis rests on relatively nonspecific symptoms, ECG changes, elevated indices of myocardial damage, cardiac MRI findings, and importantly, echocardiographic evidence of developing ventricular failure. Treatment involves stopping clozapine and empirical applications of steroids, diuretics, beta-blockers, and antiangiotensin agents. Mortality averages approximately 25 %. Safety of clozapine reuse remains uncertain. Systematic studies are needed to improve knowledge of the epidemiology, avoidance, early identification, and treatment of these adverse effects, with effective and practicable monitoring protocols. © 2016, Springer Science+Business Media New York. Source

Lahner E.,University of Rome La Sapienza | Gentile G.,Advanced Molecular Diagnostics Unit | Purchiaroni F.,University of Rome La Sapienza | Mora B.,University of Rome La Sapienza | And 3 more authors.
Digestive and Liver Disease | Year: 2015

Background: Autoimmune gastritis may present as pernicious anaemia arising from vitamin B12 malabsorption, but also with iron deficiency anaemia due to iron malabsorption. These different clinical presentations might have a genetic basis. Single nucleotide polymorphisms associated with vitamin B12 levels have not been investigated in autoimmune gastritis. Aims: To determine the frequency of single nucleotide polymorphisms related to vitamin B12 levels in autoimmune gastritis patients, with or without pernicious anaemia, compared to healthy controls. Methods: 14 single nucleotide polymorphisms associated with vitamin B12 levels were selected from literature. 83 autoimmune gastritis patients (43 with and 40 without pernicious anaemia) and 173 controls were enrolled. Genomic DNA was extracted from peripheral blood leukocytes. Genotyping was performed using Sequenom MALDI-TOF mass spectrometry iPLEX platform. Results: TCN2 (rs9606756) GG genotype, related with lower vitamin B12 levels, was found in 3 (3.6%) autoimmune gastritis patients (2 with pernicious anaemia), but in none of controls (p=0.02). FUT6 (rs3760776) AA genotype was present in four (4.8%) autoimmune gastritis patients (all pernicious anaemia) and three (1.7%) controls (p=0.007). Conclusion: A genetic variant of TCN2 (rs9606756) related to lower vitamin B12 levels was more frequent in pernicious anaemia patients compared to controls, showing the plausibility of genetic factors determining the possible clinical manifestation of autoimmune gastritis. © 2015 Editrice Gastroenterologica Italiana S.r.l. Source

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