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  1. Article ; Online: Transperineal Ultrasonography in the Assessment of Rectal Inflammation: Beyond the Monitoring of Ulcerative Colitis.

    Dal Buono, Arianna / Armuzzi, Alessandro

    Inflammatory bowel diseases

    2023  

    Language English
    Publishing date 2023-10-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 1340971-2
    ISSN 1536-4844 ; 1078-0998
    ISSN (online) 1536-4844
    ISSN 1078-0998
    DOI 10.1093/ibd/izad254
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4530: Show issues Location:
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  2. Article ; Online: Unveiling the Complexity of Porto-Sinusoidal Vascular Disorder in Inflammatory Bowel Disease: A Call for Further Investigation.

    Pugliese, Nicola / Dal Buono, Arianna / Armuzzi, Alessandro

    Journal of Crohn's & colitis

    2023  Volume 17, Issue 11, Page(s) 1892

    MeSH term(s) Humans ; Inflammatory Bowel Diseases/complications ; Inflammatory Bowel Diseases/diagnosis ; Idiopathic Noncirrhotic Portal Hypertension/complications
    Language English
    Publishing date 2023-05-30
    Publishing country England
    Document type Letter
    ZDB-ID 2390120-2
    ISSN 1876-4479 ; 1873-9946
    ISSN (online) 1876-4479
    ISSN 1873-9946
    DOI 10.1093/ecco-jcc/jjad091
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    Zs.A 6634: Show issues Location:
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  3. Article ; Online: Microsatellite Instability and Immune Response: From Microenvironment Features to Therapeutic Actionability-Lessons from Colorectal Cancer.

    Greco, Luana / Rubbino, Federica / Dal Buono, Arianna / Laghi, Luigi

    Genes

    2023  Volume 14, Issue 6

    Abstract: Microsatellite instability (MSI) can be found in 15-20% of all colorectal cancers (CRC) and is the key feature of a defective DNA mismatch repair (MMR) system. Currently, MSI has been established as a unique and pivotal biomarker in the diagnosis, ... ...

    Abstract Microsatellite instability (MSI) can be found in 15-20% of all colorectal cancers (CRC) and is the key feature of a defective DNA mismatch repair (MMR) system. Currently, MSI has been established as a unique and pivotal biomarker in the diagnosis, prognosis, and treatment of CRC. MSI tumors display a strong lymphocytic activation and a shift toward a tumoral microenvironment restraining metastatic potential and ensuing in a high responsiveness to immunotherapy of MSI CRC. Indeed, neoplastic cells with an MMR defect overexpress several immune checkpoint proteins, such as programmed death-1 (PD-1) and programmed death-ligand 1(PD-L1), that can be pharmacologically targeted, allowing for the revival the cytotoxic immune response toward the tumor. This review aims to illustrate the role of MSI in the tumor biology of colorectal cancer, focusing on the immune interactions with the microenvironment and their therapeutic implications.
    MeSH term(s) Humans ; Microsatellite Instability ; Prognosis ; Antineoplastic Agents ; Immunotherapy ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/therapy ; Colorectal Neoplasms/pathology ; Tumor Microenvironment/genetics
    Chemical Substances Antineoplastic Agents
    Language English
    Publishing date 2023-05-27
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14061169
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  4. Article ; Online: Microsatellite Instability and Immune Response: From Microenvironment Features to Therapeutic Actionability—Lessons from Colorectal Cancer

    Greco, Luana / Rubbino, Federica / Dal Buono, Arianna / Laghi, Luigi

    Genes (Basel). 2023 May 27, v. 14, no. 6

    2023  

    Abstract: Microsatellite instability (MSI) can be found in 15–20% of all colorectal cancers (CRC) and is the key feature of a defective DNA mismatch repair (MMR) system. Currently, MSI has been established as a unique and pivotal biomarker in the diagnosis, ... ...

    Abstract Microsatellite instability (MSI) can be found in 15–20% of all colorectal cancers (CRC) and is the key feature of a defective DNA mismatch repair (MMR) system. Currently, MSI has been established as a unique and pivotal biomarker in the diagnosis, prognosis, and treatment of CRC. MSI tumors display a strong lymphocytic activation and a shift toward a tumoral microenvironment restraining metastatic potential and ensuing in a high responsiveness to immunotherapy of MSI CRC. Indeed, neoplastic cells with an MMR defect overexpress several immune checkpoint proteins, such as programmed death-1 (PD-1) and programmed death-ligand 1(PD-L1), that can be pharmacologically targeted, allowing for the revival the cytotoxic immune response toward the tumor. This review aims to illustrate the role of MSI in the tumor biology of colorectal cancer, focusing on the immune interactions with the microenvironment and their therapeutic implications.
    Keywords DNA repair ; biomarkers ; colorectal neoplasms ; cytotoxicity ; immune response ; immunotherapy ; metastasis ; microsatellite repeats ; prognosis
    Language English
    Dates of publication 2023-0527
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14061169
    Database NAL-Catalogue (AGRICOLA)

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  5. Article ; Online: Juvenile polyposis syndrome: An overview.

    Dal Buono, Arianna / Gaiani, Federica / Poliani, Laura / Laghi, Luigi

    Best practice & research. Clinical gastroenterology

    2022  Volume 58-59, Page(s) 101799

    Abstract: Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous ... ...

    Abstract Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locations. Among the syndromic features, JPS can present with concomitant extra-intestinal manifestations, above all cutaneous manifestations such as telangiectasia, pigmented nevi, and skeletal stigmata. Pathogenic germline variants of either BMPR1A or SMAD4 cause the syndrome. In JPS a cumulative risk of CRC of 39-68% has been estimated. The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endoscopic screening, as recommended by international scientific societies. The aim of this review is to summarize clinical and genetic features of JPS and to elucidate the steps of the clinical management from diagnosis to surveillance.
    MeSH term(s) Colorectal Neoplasms/genetics ; Gastrointestinal Neoplasms ; Humans ; Intestinal Polyposis/congenital ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyposis/pathology ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Peutz-Jeghers Syndrome/pathology
    Language English
    Publishing date 2022-04-04
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2048181-0
    ISSN 1532-1916 ; 1521-6918
    ISSN (online) 1532-1916
    ISSN 1521-6918
    DOI 10.1016/j.bpg.2022.101799
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    In stock of ZB MED Cologne/Königswinter

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  6. Article ; Online: Genetic susceptibility to inflammatory bowel disease: should we be looking to the hypothalamus?

    Dal Buono, Arianna / Caldirola, Daniela / Allocca, Mariangela

    Expert review of clinical immunology

    2021  Volume 17, Issue 8, Page(s) 803–806

    MeSH term(s) Colitis, Ulcerative ; Genetic Predisposition to Disease ; Humans ; Hypothalamus ; Inflammatory Bowel Diseases/genetics
    Language English
    Publishing date 2021-05-28
    Publishing country England
    Document type Editorial
    ZDB-ID 2274260-8
    ISSN 1744-8409 ; 1744-666X
    ISSN (online) 1744-8409
    ISSN 1744-666X
    DOI 10.1080/1744666X.2021.1933443
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    Zs.A 6661: Show issues Location:
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  7. Article ; Online: Cytokines in Spondyloarthritis and Inflammatory Bowel Diseases: From Pathogenesis to Therapeutic Implications.

    Felice, Carla / Dal Buono, Arianna / Gabbiadini, Roberto / Rattazzi, Marcello / Armuzzi, Alessandro

    International journal of molecular sciences

    2023  Volume 24, Issue 4

    Abstract: Spondyloarthritis and inflammatory bowel diseases are chronic immune disorders of the joints and the gut that often coexist in the same patient, increasing the burden of each disorder, worsening patients' quality of life, and influencing therapeutic ... ...

    Abstract Spondyloarthritis and inflammatory bowel diseases are chronic immune disorders of the joints and the gut that often coexist in the same patient, increasing the burden of each disorder, worsening patients' quality of life, and influencing therapeutic strategies. Genetic predisposition, environmental triggers, microbiome features, immune cell trafficking, and soluble factors such as cytokines contribute to the pathogenesis of both articular and intestinal inflammation. Most of the molecular targeted biological therapies developed over the last two decades were based on evidence that specific cytokines may be involved in these immune diseases. Despite pro-inflammatory cytokine pathways sharing the pathogenesis of both articular and gut diseases (i.e., tumor necrosis factor and interleukin-23), several other cytokines (i.e., interleukin-17) may be differently involved in the tissue damage process, depending on the specific disease and the organ involved in inflammation, making difficult the identification of a therapeutic plan that is efficacious for both inflammatory manifestations. In this narrative review, we comprehensively summarize the current knowledge on cytokine involvement in spondyloarthritis and inflammatory bowel diseases, underlining similarities and differences among their pathogenetic pathways; finally, we provide an overview of current and potential future treatment strategies to simultaneously target both articular and gut immune disorders.
    MeSH term(s) Humans ; Cytokines/metabolism ; Inflammatory Bowel Diseases/metabolism ; Quality of Life ; Spondylarthritis/metabolism
    Chemical Substances Cytokines
    Language English
    Publishing date 2023-02-16
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24043957
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  8. Article ; Online: Ophthalmological Manifestations in Inflammatory Bowel Diseases: Keep an Eye on It.

    Migliorisi, Giulia / Vella, Giovanna / Dal Buono, Arianna / Gabbiadini, Roberto / Busacca, Anita / Loy, Laura / Bezzio, Cristina / Vinciguerra, Paolo / Armuzzi, Alessandro

    Cells

    2024  Volume 13, Issue 2

    Abstract: Background and aims: Inflammatory bowel diseases (IBD) are multifactorial chronic inflammatory disorders affecting the gastrointestinal tract. However, a broad spectrum of extraintestinal manifestations (EIMs) is associated with IBD, affecting several ... ...

    Abstract Background and aims: Inflammatory bowel diseases (IBD) are multifactorial chronic inflammatory disorders affecting the gastrointestinal tract. However, a broad spectrum of extraintestinal manifestations (EIMs) is associated with IBD, affecting several organs and systems, such as the skin, musculoskeletal and hepatobiliary systems, and, not least, the eye. Approximately 10% of IBD patients can develop ocular EIMs (O-EIMs) with a higher prevalence in Crohn's disease (CD). Eye-redness, photophobia, pain, and blurred vision are the common symptoms, with a wide rate of severity and clinical impact on the quality of life. This narrative review aims to summarize the prevalence, pathogenesis, and current evidence-based management of O-EIMs, underlying the importance of a holistic approach and specialties collaboration for a prompt diagnosis and treatment.
    Methods: PubMed was searched up to December 2023 to identify relevant studies investigating the pathogenesis, epidemiology, and treatment of O-EIMs in IBD patients.
    Results: The mechanisms underlying O-EIMs are partially unknown, encompassing immune dysregulation, shared antigens between the eye and the gut, genetic predisposition, and systemic inflammation driven by high levels of interleukins and cytokines in IBD patients. The complexity of O-EIMs' pathogenesis reflects in the management of these conditions, varying from topical and systemic steroids to immunomodulatory molecules and biologic therapy, such as anti-tumor necrosis factor (TNF)-alpha. A multidisciplinary approach is the backbone of the management of O-EIMs.
    MeSH term(s) Humans ; Quality of Life ; Eye ; Face ; Inflammatory Bowel Diseases ; Crohn Disease
    Language English
    Publishing date 2024-01-12
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells13020142
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  9. Article: Lynch Syndrome: From Multidisciplinary Management to Precision Prevention.

    Dal Buono, Arianna / Puccini, Alberto / Franchellucci, Gianluca / Airoldi, Marco / Bartolini, Michela / Bianchi, Paolo / Santoro, Armando / Repici, Alessandro / Hassan, Cesare

    Cancers

    2024  Volume 16, Issue 5

    Abstract: Background and aims: Lynch syndrome (LS) is currently one of the most prevalent hereditary cancer conditions, accounting for 3% of all colorectal cancers and for up to 15% of those with DNA mismatch repair (MMR) deficiency, and it was one of the first ... ...

    Abstract Background and aims: Lynch syndrome (LS) is currently one of the most prevalent hereditary cancer conditions, accounting for 3% of all colorectal cancers and for up to 15% of those with DNA mismatch repair (MMR) deficiency, and it was one of the first historically identified. The understanding of the molecular carcinogenesis of LS tumors has progressed significantly in recent years. We aim to review the most recent advances in LS research and explore genotype-based approaches in surveillance, personalized cancer prevention, and treatment strategies.
    Methods: PubMed was searched to identify relevant studies, conducted up to December 2023, investigating molecular carcinogenesis in LS, surveillance strategies, cancer prevention, and treatment in LS tumors.
    Results: Multigene panel sequencing is becoming the benchmark in the diagnosis of LS, allowing for the detection of a pathogenic constitutional variant in one of the MMR genes. Emerging data from randomized controlled trials suggest possible preventive roles of resistant starch and/or aspirin in LS. Vaccination with immunogenic frameshift peptides appears to be a promising approach for both the treatment and prevention of LS-associated cancers, as evidenced by pre-clinical and preliminary phase 1/2a studies.
    Conclusions: Although robust diagnostic algorithms, including prompt testing of tumor tissue for MMR defects and referral for genetic counselling, currently exist for suspected LS in CRC patients, the indications for LS screening in cancer-free individuals still need to be refined and standardized. Investigation into additional genetic and non-genetic factors that may explain residual rates of interval cancers, even in properly screened populations, would allow for more tailored preventive strategies.
    Language English
    Publishing date 2024-02-20
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers16050849
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  10. Article: An Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes.

    Dal Buono, Arianna / Poliani, Laura / Repici, Alessandro / Hassan, Cesare / Bianchi, Paolo

    ACG case reports journal

    2022  Volume 9, Issue 11, Page(s) e00926

    Abstract: Gastric polyposis is a rare endoscopic finding that can imply genetic syndromes predisposing to cancer development. Among the possible conditions associated with gastric polyposis and early onset gastric cancer (younger than 45 years) is juvenile ... ...

    Abstract Gastric polyposis is a rare endoscopic finding that can imply genetic syndromes predisposing to cancer development. Among the possible conditions associated with gastric polyposis and early onset gastric cancer (younger than 45 years) is juvenile polyposis syndrome. We present a clinical case of early onset gastric cancer associated with a frameshift mutation in the gene
    Language English
    Publishing date 2022-11-24
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2814825-3
    ISSN 2326-3253
    ISSN 2326-3253
    DOI 10.14309/crj.0000000000000926
    Database MEDical Literature Analysis and Retrieval System OnLINE

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