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  1. Article ; Online: Opinion paper on the systematic application of integrated bioinformatic tools to actuate routine precision medicine in poly-treated patients.

    Borro, Marina / Salerno, Gerardo / Gentile, Giovanna / Simmaco, Maurizio

    Clinical chemistry and laboratory medicine

    2023  Volume 61, Issue 4, Page(s) 662–665

    Abstract: Precision Medicine is a reality in selected medical areas, as oncology, or in excellent healthcare structures, but it is still far to reach million patients who could benefit from this medical concept. Here, we sought to highlight how the time is ripe to ...

    Abstract Precision Medicine is a reality in selected medical areas, as oncology, or in excellent healthcare structures, but it is still far to reach million patients who could benefit from this medical concept. Here, we sought to highlight how the time is ripe to achieve horizontal delivery to a significant larger audience of patients, represented by the poly-treated patients. Combination therapies are frequent (especially in the elderly, to treat comorbidities) and are related to decreased drug safety and efficacy, disease's exacerbation, additional treatments, hospitalization. But the recent development and validation of bioinformatic tools, aimed to automatic evaluation and optimization of poly-therapies, according to the unique individual characteristics (including genotype), is ready to change the daily approach to pharmacological prescription.
    MeSH term(s) Humans ; Aged ; Precision Medicine ; Delivery of Health Care ; Patients ; Hospitalization
    Language English
    Publishing date 2023-01-19
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1418007-8
    ISSN 1437-4331 ; 1434-6621 ; 1437-8523
    ISSN (online) 1437-4331
    ISSN 1434-6621 ; 1437-8523
    DOI 10.1515/cclm-2022-1293
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Frequencies of Combined Dysfunction of Cytochromes P450 2C9, 2C19, and 2D6 in an Italian Cohort: Suggestions for a More Appropriate Medication Prescribing Process.

    Gentile, Giovanna / De Luca, Ottavia / Del Casale, Antonio / Salerno, Gerardo / Simmaco, Maurizio / Borro, Marina

    International journal of molecular sciences

    2023  Volume 24, Issue 16

    Abstract: Improper drug prescription is a main cause of both drug-related harms (inefficacy and toxicity) and ineffective spending and waste of the healthcare system's resources. Nowadays, strategies to support an improved, informed prescription process may ... ...

    Abstract Improper drug prescription is a main cause of both drug-related harms (inefficacy and toxicity) and ineffective spending and waste of the healthcare system's resources. Nowadays, strategies to support an improved, informed prescription process may benefit from the adequate use of pharmacogenomic testing. Using next-generation sequencing, we analyzed the genomic profile for three major cytochromes P450 (CYP2C9, CYP2C19, CYP2D6) and studied the frequencies of dysfunctional isozymes (e.g., poor, intermediate, or rapid/ultra-rapid metabolizers) in a cohort of 298 Italian subjects. We found just 14.8% of subjects with a fully normal set of cytochromes, whereas 26.5% of subjects had combined cytochrome dysfunction (more than one isozyme involved). As improper drug prescription is more frequent, and more burdening, in polytreated patients, since drug-drug interactions also cause patient harm, we discuss the potential benefits of a more comprehensive PGX testing approach to support informed drug selection in such patients.
    MeSH term(s) Humans ; Cytochrome P-450 CYP2C9/genetics ; Drug Prescriptions ; Cytochrome P-450 CYP2D6 ; Genetic Profile ; High-Throughput Nucleotide Sequencing
    Chemical Substances Cytochrome P-450 CYP2C9 (EC 1.14.13.-) ; Cytochrome P-450 CYP2D6 (EC 1.14.14.1)
    Language English
    Publishing date 2023-08-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms241612696
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Inter-individual variation in CYP2A6 activity and chronic obstructive pulmonary disease in smokers: Perspectives for an early predictive marker.

    Pezzuto, Aldo / Lionetto, Luana / Ricci, Alberto / Simmaco, Maurizio / Borro, Marina

    Biochimica et biophysica acta. Molecular basis of disease

    2020  Volume 1867, Issue 1, Page(s) 165990

    MeSH term(s) Cytochrome P-450 CYP2A6/genetics ; Cytochrome P-450 CYP2A6/metabolism ; Female ; Genetic Variation ; Humans ; Male ; Pulmonary Disease, Chronic Obstructive/enzymology ; Pulmonary Disease, Chronic Obstructive/etiology ; Pulmonary Disease, Chronic Obstructive/genetics ; Smokers ; Smoking/adverse effects ; Smoking/genetics
    Chemical Substances CYP2A6 protein, human (EC 1.14.14.1) ; Cytochrome P-450 CYP2A6 (EC 1.14.14.1)
    Language English
    Publishing date 2020-10-19
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2020.165990
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: SARS-CoV-2 Transmission Control Measures in the Emergency Department: The Role of Rapid Antigenic Testing in Asymptomatic Subjects.

    Borro, Marina / Salerno, Gerardo / Montori, Andrea / Petrucca, Andrea / Anibaldi, Paolo / Marcolongo, Adriano / Bonfini, Rita / Simmaco, Maurizio / Santino, Iolanda

    Healthcare (Basel, Switzerland)

    2022  Volume 10, Issue 5

    Abstract: Limiting transmission of SARS-CoV-2 from asymptomatic people assumes the paramount importance of keeping fragile subjects protected. We evaluated the utility of rapid SARS-CoV-2 antigen testing in asymptomatic subjects attending emergency departments in ... ...

    Abstract Limiting transmission of SARS-CoV-2 from asymptomatic people assumes the paramount importance of keeping fragile subjects protected. We evaluated the utility of rapid SARS-CoV-2 antigen testing in asymptomatic subjects attending emergency departments in non-COVID-19 areas, using a single nasopharyngeal swab specimen collected in universal transport medium to perform both rapid antigen testing and rRT-PCR (used as reference standard) in a cohort of 899 patients. In the overall sample, the rapid antigen test had 43.9% sensitivity, 100% specificity, 100% positive predictive value, 93.6% negative predictive value. Considering subjects with rRT-PCR cycle threshold ≤30, the test had 80.4% sensitivity, 100% specificity, 100% positive predictive value, 98.8% negative predictive value. Considering subjects with rRT-PCR cycle threshold ≤25, the test had 94.7% sensitivity, 100% specificity, 100% positive predictive value and 99.7% negative predictive value. Despite low sensitivity, routine application of rapid antigen testing in the emergency department can lead to isolation in less than 30 min of about a half of asymptomatic COVID-19 subjects assigned to non-COVID-19 areas by clinical triage. The rapid test correctly identified 94.7% of asymptomatic patients with cycle threshold ≤ 25 that are supposed to be more infective; thus, it could be a useful measure to contain viral transmission in non-COVID-19 areas.
    Language English
    Publishing date 2022-04-23
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2721009-1
    ISSN 2227-9032
    ISSN 2227-9032
    DOI 10.3390/healthcare10050790
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of

    De Luca, Ottavia / Salerno, Gerardo / De Bernardini, Donatella / Torre, Maria Simona / Simmaco, Maurizio / Lionetto, Luana / Gentile, Giovanna / Borro, Marina

    International journal of molecular sciences

    2022  Volume 23, Issue 22

    Abstract: Deficiency of dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene, is associated with severe toxicity induced by the anti-cancer drug 5-Fluorouracil (5-FU). DPYD genotyping of four recommended polymorphisms is widely used to predict toxicity, ...

    Abstract Deficiency of dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene, is associated with severe toxicity induced by the anti-cancer drug 5-Fluorouracil (5-FU). DPYD genotyping of four recommended polymorphisms is widely used to predict toxicity, yet their prediction power is limited. Increasing availability of next generation sequencing (NGS) will allow us to screen rare variants, predicting a larger fraction of DPD deficiencies. Genotype−phenotype correlations were investigated by performing DPYD exon sequencing in 94 patients assessed for DPD deficiency by the 5-FU degradation rate (5-FUDR) assay. Association of common variants with 5-FUDR was analyzed with the SNPStats software. Functional interpretation of rare variants was performed by in-silico analysis (using the HSF system and PredictSNP) and literature review. A total of 23 rare variants and 8 common variants were detected. Among common variants, a significant association was found between homozygosity for the rs72728438 (c.1974+75A>G) and decreased 5-FUDR. Haplotype analysis did not detect significant associations with 5-FUDR. Overall, in our sample cohort, NGS exon sequencing allowed us to explain 42.5% of the total DPD deficiencies. NGS sharply improves prediction of DPD deficiencies, yet a broader collection of genotype−phenotype association data is needed to enable the clinical use of sequencing data.
    MeSH term(s) Humans ; Dihydrouracil Dehydrogenase (NADP)/genetics ; Dihydrouracil Dehydrogenase (NADP)/metabolism ; Dihydropyrimidine Dehydrogenase Deficiency/diagnosis ; Dihydropyrimidine Dehydrogenase Deficiency/genetics ; Fluorouracil/adverse effects ; Fluorouracil/metabolism ; Floxuridine ; Antimetabolites, Antineoplastic/adverse effects ; Antimetabolites, Antineoplastic/metabolism ; Exons
    Chemical Substances Dihydrouracil Dehydrogenase (NADP) (EC 1.3.1.2) ; Fluorouracil (U3P01618RT) ; Floxuridine (039LU44I5M) ; Antimetabolites, Antineoplastic
    Language English
    Publishing date 2022-11-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms232213923
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Hard-to-heal peripheral wounds infected with

    Virgilio, Edoardo / Solmone, Mariacarmela / Scardigno, Alessandro / Fradiani, Piera / Ceci, Diego / Teggi, Antonella / Enea Di Domenico, Gino / Cavallo, Ilaria / Ensoli, Fabrizio / Borro, Marina / Simmaco, Maurizio / Santino, Iolanda / Cavallini, Marco

    Journal of wound care

    2023  Volume 32, Issue 12, Page(s) 811–820

    Abstract: Objective: To investigate : Method: In this study, two groups of patients with similar lesions which were infected were compared: one group with the presence of the coryneform rod, the other without.: Results: In total, : Conclusion: In view of ...

    Abstract Objective: To investigate
    Method: In this study, two groups of patients with similar lesions which were infected were compared: one group with the presence of the coryneform rod, the other without.
    Results: In total,
    Conclusion: In view of the findings of our study,
    MeSH term(s) Humans ; Prospective Studies ; Corynebacterium ; Corynebacterium Infections/microbiology ; Wound Healing ; Cross Infection/microbiology
    Language English
    Publishing date 2023-12-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 1353951-6
    ISSN 0969-0700
    ISSN 0969-0700
    DOI 10.12968/jowc.2023.32.12.811
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The Impact of Non-Andrological Medications on Semen Characteristics, Oxidative Stress and Inflammatory Parameters.

    Salerno, Gerardo / Borro, Marina / Visco, Vincenzo / Olana, Soraya / Gargano, Francesca / Raffa, Salvatore / Zamponi, Virginia / Mancini, Camilla / Faggiano, Antongiulio / Simmaco, Maurizio / Mazzilli, Rossella

    Medicina (Kaunas, Lithuania)

    2023  Volume 59, Issue 5

    Abstract: Background and ... ...

    Abstract Background and Objectives
    MeSH term(s) Male ; Humans ; Semen ; Interleukin-1alpha/metabolism ; Tumor Necrosis Factor-alpha/analysis ; Interleukin-10/metabolism ; Infertility, Male/drug therapy ; Oxidative Stress ; Oxygen/metabolism
    Chemical Substances Interleukin-1alpha ; Tumor Necrosis Factor-alpha ; Interleukin-10 (130068-27-8) ; Oxygen (S88TT14065)
    Language English
    Publishing date 2023-05-08
    Publishing country Switzerland
    Document type Observational Study ; Journal Article
    ZDB-ID 2188113-3
    ISSN 1648-9144 ; 1010-660X
    ISSN (online) 1648-9144
    ISSN 1010-660X
    DOI 10.3390/medicina59050903
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Integrated OMICS tools for personalised medicine.

    Borro, Marina / Gentile, Giovanna / Lionetto, Luana / Simmaco, Maurizio

    The journal of headache and pain

    2017  Volume 16, Issue Suppl 1, Page(s) A9

    Language English
    Publishing date 2017-01-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 2036768-5
    ISSN 1129-2377 ; 1129-2369
    ISSN (online) 1129-2377
    ISSN 1129-2369
    DOI 10.1186/1129-2377-16-S1-A9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: The future of pharmacogenetics in the treatment of migraine.

    Borro, Marina / Guglielmetti, Martina / Simmaco, Maurizio / Martelletti, Paolo / Gentile, Giovanna

    Pharmacogenomics

    2019  Volume 20, Issue 16, Page(s) 1159–1173

    Abstract: Migraine is considered one of the most disabling neurological disorder with a high socioeconomic burden. Pharmacological management includes many classes of drugs which in the most cases, are administrated in polytherapy. The therapeutic scheme of ... ...

    Abstract Migraine is considered one of the most disabling neurological disorder with a high socioeconomic burden. Pharmacological management includes many classes of drugs which in the most cases, are administrated in polytherapy. The therapeutic scheme of migraineurs is often affected by comorbidities which need concomitant medications, thus increasing the risk of side effects related to drug-drug interactions. Pharmacogenetics is a promising tool to achieve a personalized cure based on individual genetic profile while the availability of free online knowledge bases allows to check the potential DDIs of selected medications. Combining, these approaches may offer to clinicians a useful tool to improve the appropriateness of migraine polytherapy choice, aiming to increase the efficacy and reduce the toxicity of pharmacological treatments.
    MeSH term(s) Anti-Inflammatory Agents, Non-Steroidal/adverse effects ; Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ; Drug Interactions/genetics ; Drug-Related Side Effects and Adverse Reactions/genetics ; Drug-Related Side Effects and Adverse Reactions/pathology ; Humans ; Migraine Disorders/drug therapy ; Migraine Disorders/genetics ; Migraine Disorders/pathology ; Pharmacogenetics ; Precision Medicine
    Chemical Substances Anti-Inflammatory Agents, Non-Steroidal
    Language English
    Publishing date 2019-10-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 2019513-8
    ISSN 1744-8042 ; 1462-2416
    ISSN (online) 1744-8042
    ISSN 1462-2416
    DOI 10.2217/pgs-2019-0069
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Optimising migraine treatment: from drug-drug interactions to personalized medicine.

    Pomes, Leda Marina / Guglielmetti, Martina / Bertamino, Enrico / Simmaco, Maurizio / Borro, Marina / Martelletti, Paolo

    The journal of headache and pain

    2019  Volume 20, Issue 1, Page(s) 56

    Abstract: Migraine is the most disabling and expensive chronic disorders, the etiology of which is still not fully known. The neuronal systems, (glutammatergic, dopaminergic, serotoninergic and GABA-ergic) whose functionality is partly attributable to genetically ... ...

    Abstract Migraine is the most disabling and expensive chronic disorders, the etiology of which is still not fully known. The neuronal systems, (glutammatergic, dopaminergic, serotoninergic and GABA-ergic) whose functionality is partly attributable to genetically determined factors, has been suggested to play an important role. The treatment of acute attacks and the prophylactic management of chronic forms include the use of different category of drugs, and it is demonstrated that not each subject has the same clinical answer to them. The reason of this is to be searched in different functional capacity and quantity of phase I enzymes (such as different isoforms of CYP P450), phase II enzymes (such as UDP-glucuronosyltransferases), receptors (such as OPRM1 for opioids) and transporters (such as ABCB1) involved in the metabolic destiny of each drug, all of these dictated by DNA and RNA variations. The general picture is further exacerbated by the need for polytherapies, often also to treat comorbidities, which may interfere with the pharmacological action of anti-migraine drugs. Personalized medicine has the objective of setting the optimal therapies in the light of the functional biochemical asset and of the comorbidities of the individual patient, in order to obtain the best clinical response. Novel therapeutic perspectives in migraine includes biotechnological drugs directed against molecules (such as CGRP and its receptor) that cause vasodilatation at the peripheral level of the meningeal blood vessels and reflex stimulation of the parasympathetic system. Drug-drug interactions and the possible competitive metabolic destiny should be studied by the application of pharmacogenomics in large scale. Drug-drug interactions and their possible competitive metabolic destiny should be studied by the application of pharmacogenomics in large scale.
    MeSH term(s) Analgesics, Opioid/therapeutic use ; Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ; Antidepressive Agents, Tricyclic/therapeutic use ; Calcitonin Gene-Related Peptide/antagonists & inhibitors ; Calcitonin Gene-Related Peptide/metabolism ; Calcitonin Gene-Related Peptide Receptor Antagonists/therapeutic use ; Drug Interactions ; Humans ; Migraine Disorders/drug therapy ; Migraine Disorders/genetics ; Migraine Disorders/metabolism ; Pharmacogenetics ; Precision Medicine/methods ; Tryptamines/therapeutic use
    Chemical Substances Analgesics, Opioid ; Anti-Inflammatory Agents, Non-Steroidal ; Antidepressive Agents, Tricyclic ; Calcitonin Gene-Related Peptide Receptor Antagonists ; Tryptamines ; Calcitonin Gene-Related Peptide (JHB2QIZ69Z)
    Language English
    Publishing date 2019-05-17
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2036768-5
    ISSN 1129-2377 ; 1129-2369
    ISSN (online) 1129-2377
    ISSN 1129-2369
    DOI 10.1186/s10194-019-1010-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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