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  1. Article: Editorial: Whole Genome Sequencing for rare diseases.

    Di Resta, Chiara / D'Argenio, Valeria

    Frontiers in medicine

    2023  Volume 10, Page(s) 1267930

    Language English
    Publishing date 2023-09-19
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2023.1267930
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Advance in Genomics of Rare Genetic Diseases.

    Sommariva, Elena / Bellin, Milena / Di Resta, Chiara

    Biomolecules

    2023  Volume 13, Issue 10

    Abstract: Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [ ... ]. ...

    Abstract Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...].
    MeSH term(s) Humans ; Genomics/methods ; Computational Biology ; Rare Diseases/genetics
    Language English
    Publishing date 2023-09-25
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom13101441
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  3. Article: Challenges of the Effectiveness of Traumatic Brain Injuries Biomarkers in the Sports-Related Context.

    Tomaiuolo, Rossella / Zibetti, Martina / Di Resta, Chiara / Banfi, Giuseppe

    Journal of clinical medicine

    2023  Volume 12, Issue 7

    Abstract: Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial ... ...

    Abstract Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial tomography is the first-choice examination, despite the limited prevalence of positivity; moreover, its performance is undesirable due to the risk of radiological exposure, prolonged stay in emergency departments, inefficient use of resources, high cost, and complexity. Furthermore, immediacy and accuracy in diagnosis and management of TBIs are critically unmet medical needs. Especially in the context of sports-associated TBI, there is a strong need for prognostic indicators to help diagnose and identify at-risk subjects to avoid their returning to play while the brain is still highly vulnerable. Fluid biomarkers may emerge as new prognostic indicators to develop more accurate prediction models, improving risk stratification and clinical decision making. This review describes the current understanding of the cellular sources, temporal profile, and potential utility of leading and emerging blood-based protein biomarkers of TBI; its focus is on biomarkers that could improve the management of mild TBI cases and can be measured readily and directly in the field, as in the case of sports-related contexts.
    Language English
    Publishing date 2023-03-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12072563
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  4. Article: Genetic testing in neurology exploiting next generation sequencing: state of art.

    Di Resta, Chiara / Ferrari, Maurizio

    Neural regeneration research

    2019  Volume 15, Issue 2, Page(s) 265–266

    Language English
    Publishing date 2019-10-09
    Publishing country India
    Document type Journal Article
    ZDB-ID 2388460-5
    ISSN 1876-7958 ; 1673-5374
    ISSN (online) 1876-7958
    ISSN 1673-5374
    DOI 10.4103/1673-5374.265554
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.

    Veneruso, Iolanda / Di Resta, Chiara / Tomaiuolo, Rossella / D'Argenio, Valeria

    Medicina (Kaunas, Lithuania)

    2022  Volume 58, Issue 3

    Abstract: Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/ ... ...

    Abstract Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.e., expanded carrier screening (ECS). ECS simultaneously analyses several disease-related genes and better estimates individuals' carrier status. Indeed, it is not influenced by ethnicity and is not limited to a subset of mutations that may arise from poor information in some populations. Moreover, if couples carry out ECS before conceiving a baby, it allows them to obtain a complete estimation of their genetic risk and the possibility to make an informed decision regarding their reproductive life. Despite these advantages, some weakness still exists regarding, for example, the number of genes and the kind of diseases to be analyzed and the interpretation and communication of the obtained results. Once these points are fixed, it is expectable that ECS will become an ever more frequent practice in clinical settings.
    MeSH term(s) Child ; Ethnicity ; Genetic Carrier Screening/methods ; Genetic Counseling ; Humans ; Infant, Newborn ; Mass Screening ; Mutation
    Language English
    Publishing date 2022-03-21
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2188113-3
    ISSN 1648-9144 ; 1010-660X
    ISSN (online) 1648-9144
    ISSN 1010-660X
    DOI 10.3390/medicina58030455
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6270: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
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  6. Article ; Online: Challenges of the Effectiveness of Traumatic Brain Injuries Biomarkers in the Sports-Related Context

    Rossella Tomaiuolo / Martina Zibetti / Chiara Di Resta / Giuseppe Banfi

    Journal of Clinical Medicine, Vol 12, Iss 2563, p

    2023  Volume 2563

    Abstract: Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial ... ...

    Abstract Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial tomography is the first-choice examination, despite the limited prevalence of positivity; moreover, its performance is undesirable due to the risk of radiological exposure, prolonged stay in emergency departments, inefficient use of resources, high cost, and complexity. Furthermore, immediacy and accuracy in diagnosis and management of TBIs are critically unmet medical needs. Especially in the context of sports-associated TBI, there is a strong need for prognostic indicators to help diagnose and identify at-risk subjects to avoid their returning to play while the brain is still highly vulnerable. Fluid biomarkers may emerge as new prognostic indicators to develop more accurate prediction models, improving risk stratification and clinical decision making. This review describes the current understanding of the cellular sources, temporal profile, and potential utility of leading and emerging blood-based protein biomarkers of TBI; its focus is on biomarkers that could improve the management of mild TBI cases and can be measured readily and directly in the field, as in the case of sports-related contexts.
    Keywords traumatic brain injury (TBI) ; sports-related TBI ; brain injury markers/biomarkers ; TBI biomarker ; outcome assessment ; Medicine ; R
    Language English
    Publishing date 2023-03-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: New molecular approaches to Alzheimer's disease.

    Di Resta, Chiara / Ferrari, Maurizio

    Clinical biochemistry

    2019  Volume 72, Page(s) 81–86

    Abstract: Alzheimer's disease is a neurodegenerative disorder and the most common and devastating form of dementia. It affects mainly older people, accounting for 50-80% of dementia cases. The age is the main associated risk factor and based on the onset age, ... ...

    Abstract Alzheimer's disease is a neurodegenerative disorder and the most common and devastating form of dementia. It affects mainly older people, accounting for 50-80% of dementia cases. The age is the main associated risk factor and based on the onset age, early-onset (EOAD) or late-onset (LOAD) forms are distinguished. AD has a strong impact both on the life-style of patients and their families and on the society, due to the high costs related to social and medical care. So far, despite the great advances in understanding of the AD pathogenesis, there is no a cure for this form of dementia and current available treatments are limited to temporarily relieve symptoms. In this review, firstly we give an overview of the current knowledge of the genetic basis of both forms of AD with a particular emphasis on the insights in the understanding of the pathogenic mechanisms of this disorder. Then we discuss the promising relevance of "omics sciences" and the open challenges of the application of Big Data in promoting precision medicine for AD.
    MeSH term(s) Alzheimer Disease/genetics ; Alzheimer Disease/physiopathology ; Big Data ; Epigenomics/statistics & numerical data ; High-Throughput Nucleotide Sequencing ; Humans ; Metabolomics/statistics & numerical data ; Proteomics/statistics & numerical data
    Language English
    Publishing date 2019-04-21
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 390372-2
    ISSN 1873-2933 ; 0009-9120
    ISSN (online) 1873-2933
    ISSN 0009-9120
    DOI 10.1016/j.clinbiochem.2019.04.010
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 624: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  8. Article ; Online: Melanocortin-1 receptor (MC1R): a review for dermatologists.

    Guida, Stefania / Puig, Susana / DI Resta, Chiara / Sallustio, Fabio / Mangano, Eleonora / Stabile, Giorgio / Longo, Caterina / Pellacani, Giovanni / Guida, Gabriella / Rongioletti, Franco

    Italian journal of dermatology and venereology

    2024  

    Abstract: Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date ... ...

    Abstract Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.
    Language English
    Publishing date 2024-02-20
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 3065415-4
    ISSN 2784-8450
    ISSN (online) 2784-8450
    DOI 10.23736/S2784-8671.24.07839-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 119: Show issues Location:
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  9. Article: Next Generation Sequencing: From Research Area to Clinical Practice.

    Di Resta, Chiara / Ferrari, Maurizio

    EJIFCC

    2018  Volume 29, Issue 3, Page(s) 215–220

    Abstract: Translating the power of high-throughput sequencing technologies from research area into clinical medicine is one of the major goal for several researchers and health-care providers. One of the important advantages of these technologies is that they can ... ...

    Abstract Translating the power of high-throughput sequencing technologies from research area into clinical medicine is one of the major goal for several researchers and health-care providers. One of the important advantages of these technologies is that they can be successfully used in a numerous range of clinical applications. The efficiency of sequencing, that can now be achieved, is leading impressive progress in the diagnostics of common and rare genetic disorders, inherited forms of cancer, prenatal testing or infectious diseases, to cite some examples. Despite several challenges and limitations still remain to overcome, the high-throughput sequencing technologies are leading to real and unprecedented benefits for the medical care of patients.
    Language English
    Publishing date 2018-11-07
    Publishing country Italy
    Document type Journal Article
    ISSN 1650-3414
    ISSN 1650-3414
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  10. Article ; Online: Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench.

    Peretto, Giovanni / Sommariva, Elena / Di Resta, Chiara / Rabino, Martina / Villatore, Andrea / Lazzeroni, Davide / Sala, Simone / Pompilio, Giulio / Cooper, Leslie T

    Biomolecules

    2023  Volume 13, Issue 4

    Abstract: Over recent years, preclinical and clinical evidence has implicated myocardial inflammation (M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M-Infl resembling myocarditis on imaging and histology occurs frequently ...

    Abstract Over recent years, preclinical and clinical evidence has implicated myocardial inflammation (M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M-Infl resembling myocarditis on imaging and histology occurs frequently as a clinical manifestation of classically genetic cardiac diseases, including dilated and arrhythmogenic cardiomyopathy. The emerging role of M-Infl in disease pathophysiology is leading to the identification of druggable targets for molecular treatment of the inflammatory process and a new paradigm in the field of cardiomyopathies. Cardiomyopathies constitute a leading cause of heart failure and arrhythmic sudden death in the young population. The aim of this review is to present, from bedside to bench, the current state of the art about the genetic basis of M-Infl in nonischemic cardiomyopathies of the dilated and arrhythmogenic spectrum in order to prompt future research towards the identification of novel mechanisms and treatment targets, with the ultimate goal of lowering disease morbidity and mortality.
    MeSH term(s) Humans ; Myocarditis/genetics ; Cardiomyopathies/genetics ; Cardiomyopathies/pathology ; Heart Failure/complications ; Arrhythmias, Cardiac/genetics ; Inflammation/genetics ; Inflammation/complications
    Language English
    Publishing date 2023-04-04
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom13040646
    Database MEDical Literature Analysis and Retrieval System OnLINE

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