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  1. Article: Pediatric Autoimmune Hepatitis.

    Nastasio, Silvia / Sciveres, Marco / Francalanci, Paola / Maggiore, Giuseppe

    Pediatric reports

    2024  Volume 16, Issue 1, Page(s) 110–113

    Abstract: Pediatric autoimmune hepatitis (PAIH) is a rare necro-inflammatory disease of the liver of unknown etiology thought to derive from the dysregulation of the immune response upon exposure to environmental triggers in genetically predisposed individuals [ ... ...

    Abstract Pediatric autoimmune hepatitis (PAIH) is a rare necro-inflammatory disease of the liver of unknown etiology thought to derive from the dysregulation of the immune response upon exposure to environmental triggers in genetically predisposed individuals [...].
    Language English
    Publishing date 2024-02-01
    Publishing country Switzerland
    Document type Editorial
    ISSN 2036-749X
    ISSN 2036-749X
    DOI 10.3390/pediatric16010011
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  2. Article: Case report: Coronary allograft vasculopathy: an accurate reflection of the histopathological findings on cardiovascular magnetic resonance imaging.

    Napolitano, Carmela / Grutter, Giorgia / Francalanci, Paola / Amodeo, Antonio / Secinaro, Aurelio

    Frontiers in cardiovascular medicine

    2023  Volume 10, Page(s) 1123212

    Abstract: Heart transplant recipients undergo extensive invasive and non-invasive postoperative screening to exclude complications, such as allograft rejection and vasculopathy. Cardiac magnetic resonance imaging is a non-invasive, non-irradiating, diagnostic tool ...

    Abstract Heart transplant recipients undergo extensive invasive and non-invasive postoperative screening to exclude complications, such as allograft rejection and vasculopathy. Cardiac magnetic resonance imaging is a non-invasive, non-irradiating, diagnostic tool for monitoring graft health and identifying possible tissue rejection or myocardial fibrosis. We describe the case of a 29-year-old female heart transplant recipient admitted to our care center with a worsening clinical condition. The patient underwent clinical evaluation, blood tests, including troponin I and N-terminal pro brain type natriuretic peptide, transthoracic echocardiography, invasive coronary angiography, and cardiovascular magnetic resonance imaging. Cardiovascular magnetic resonance imaging showed widespread sub-epicardial hyperintensity of the myocardial segments along the course of the coronary arteries. T2 mapping sequences showed an elevated value and the myocardial native T1 values and extracellular volume percentage were significantly increased. Late gadolinium enhancement demonstrated a diffuse sub-epicardial hypersignal along the lateral, free, and left ventricular walls. All the sequences evidenced widespread hyper-enhancement of epicardial fat along the course of the thickened main coronary artery walls. One month later, the recipient underwent re-transplantation due to progressive worsening of the clinical condition and refractoriness to intravenous medication. The anatomopathological findings of the explanted heart provided impressive visualization of structural and histopathological changes. These results could guide the tailoring of preventive therapeutic strategies and non-invasive monitoring of cardiac grafts.
    Language English
    Publishing date 2023-05-17
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2781496-8
    ISSN 2297-055X
    ISSN 2297-055X
    DOI 10.3389/fcvm.2023.1123212
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  3. Article ; Online: Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.

    Callea, Francesco / Francalanci, Paola / Giovannoni, Isabella

    International journal of molecular sciences

    2021  Volume 22, Issue 11

    Abstract: Alpha-1-antitrypsin (AAT) and fibrinogen are secretory acute phase reactant proteins. Circulating AAT and fibrinogen are synthesized exclusively in the liver. Mutations in the encoding genes result in conformational abnormalities of the two molecules ... ...

    Abstract Alpha-1-antitrypsin (AAT) and fibrinogen are secretory acute phase reactant proteins. Circulating AAT and fibrinogen are synthesized exclusively in the liver. Mutations in the encoding genes result in conformational abnormalities of the two molecules that aggregate within the rough endoplasmic reticulum (RER) instead of being regularly exported. That results in AAT-deficiency (AATD) and in hereditary hypofibrinogenemia with hepatic storage (HHHS). The association of plasma deficiency and liver storage identifies a new group of pathologies: endoplasmic reticulum storage disease (ERSD).
    MeSH term(s) Afibrinogenemia/genetics ; Afibrinogenemia/metabolism ; Endoplasmic Reticulum/metabolism ; Hepatocytes/cytology ; Hepatocytes/metabolism ; Hepatocytes/ultrastructure ; Humans ; Kupffer Cells/metabolism ; Kupffer Cells/ultrastructure ; Liver/cytology ; Liver/metabolism ; Microscopy, Electron, Transmission ; Mutation ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin/metabolism ; alpha 1-Antitrypsin Deficiency/genetics ; alpha 1-Antitrypsin Deficiency/metabolism
    Chemical Substances alpha 1-Antitrypsin
    Language English
    Publishing date 2021-05-28
    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/ijms22115778
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  4. Article ; Online: Terminal Ileum Thickening and Mucosal Ulcers in a Boy With Neurofibromatosis Type 1.

    Angelino, Giulia / Francalanci, Paola / Tambucci, Renato

    Gastroenterology

    2020  Volume 159, Issue 6, Page(s) e9–e11

    MeSH term(s) Crohn Disease/diagnosis ; Diagnosis, Differential ; Digestive System Neoplasms/diagnosis ; Digestive System Neoplasms/genetics ; Digestive System Neoplasms/pathology ; Endoscopy, Gastrointestinal ; Ganglioneuroma/diagnosis ; Ganglioneuroma/genetics ; Ganglioneuroma/pathology ; Humans ; Ileal Neoplasms/diagnosis ; Ileal Neoplasms/genetics ; Ileal Neoplasms/pathology ; Ileum/diagnostic imaging ; Ileum/pathology ; Magnetic Resonance Imaging ; Male ; Multiple Endocrine Neoplasia Type 2b/diagnosis ; Multiple Endocrine Neoplasia Type 2b/genetics ; Multiple Endocrine Neoplasia Type 2b/pathology ; Mutation ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/genetics ; Neurofibromin 1/genetics ; Ulcer/diagnosis ; Ulcer/genetics ; Ulcer/pathology ; Young Adult
    Chemical Substances NF1 protein, human ; Neurofibromin 1
    Language English
    Publishing date 2020-04-23
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80112-4
    ISSN 1528-0012 ; 0016-5085
    ISSN (online) 1528-0012
    ISSN 0016-5085
    DOI 10.1053/j.gastro.2020.04.041
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    In stock of ZB MED Cologne/Königswinter

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  5. Article: Non-Invasive Diagnostic Test for Advanced Fibrosis in Adolescents With Non-Alcoholic Fatty Liver Disease.

    Mosca, Antonella / Della Volpe, Luca / Alisi, Anna / Veraldi, Silvio / Francalanci, Paola / Maggiore, Giuseppe

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 885576

    Abstract: Introduction: Non-alcoholic fatty liver disease (NAFLD) is a multifaceted disease that includes a wide spectrum of liver damage. The presence and the degree of fibrosis are considered important factors for the prognosis of NAFLD and in predicting the ... ...

    Abstract Introduction: Non-alcoholic fatty liver disease (NAFLD) is a multifaceted disease that includes a wide spectrum of liver damage. The presence and the degree of fibrosis are considered important factors for the prognosis of NAFLD and in predicting the risk of developing cirrhosis. Our aim was to evaluate the usefulness of four fibrosis scores (aspartate aminotransferase/Platelet Index [APRI], FIB-4, NAFLD Fibrosis Score [NFS], and Hepamet) in predicting different degrees of fibrosis among children with biopsy-proven NAFLD.
    Methods: About 286 adolescents [mean age 14.3 years ± 2.5; 154 (53.6%) males], referred between January 2014 and December 2019, with biopsy-proven NAFLD were enrolled.
    Results: About 173 (60.4%) patients presented fibrosis at histological analysis. In particular: 140 (49.3%) patients had
    Conclusions: Our study showed that Hepamet and APRI perform better than NFS and FIB-4 for identifying fibrosis in patients with NAFLD, but do not have PPVs so high to be considered diagnostic. Therefore, they cannot be employed, in children, for a certain diagnosis of fibrosis or its progression and cannot replace liver biopsy as the gold diagnostic standard. It is, therefore, necessary to continue to research and develop new markers of exclusive fibrosis.
    Language English
    Publishing date 2022-04-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.885576
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  6. Article ; Online: Molecular Profiling of a Hepatocellular Neoplasm Not Otherwise Specified (HCN-NOS) Demonstrates Distinct Molecular Features in Hepatoblastoma and HCC-Like Components.

    Chen Wongworawat, Yan / Sarabia, Stephen F / Urbicain, Martin / Francalanci, Paola / Sumazin, Pavel / Alaggio, Rita / López-Terrada, Dolores H

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2023  Volume 27, Issue 2, Page(s) 169–175

    Abstract: Hepatoblastomas (HB) are embryonal tumors with quiet genomes diagnosed mostly in children under 3 years of age and often cured by surgical resection and chemotherapy. However, a subset of HBs behave aggressively, displaying characteristic histologic ... ...

    Abstract Hepatoblastomas (HB) are embryonal tumors with quiet genomes diagnosed mostly in children under 3 years of age and often cured by surgical resection and chemotherapy. However, a subset of HBs behave aggressively, displaying characteristic histologic features and higher genomic instability. Hepatocellular neoplasm-not otherwise specified (HCN-NOS) is a provisional diagnostic category for tumors exhibiting either intermediate or a combination of both HB and hepatocellular carcinoma (HCC) histological features. In this study, we characterized an HCN-NOS diagnosed in a 3-year-old patient presenting with a liver mass, in which both HB and HCC histological components were amendable to macro-dissection and molecular profiling. The spectrum of mutations, copy number changes, mRNA, and protein expression profiles within these 2 histologically distinct tumor areas demonstrate molecular heterogeneity and suggest intratumoral clonal evolution of this hepatocellular
    MeSH term(s) Child, Preschool ; Humans ; Carcinoma, Hepatocellular/diagnosis ; Carcinoma, Hepatocellular/genetics ; Hepatoblastoma/diagnosis ; Hepatoblastoma/genetics ; Liver Neoplasms/diagnosis ; Liver Neoplasms/genetics ; Liver Neoplasms/metabolism ; Mutation ; Neoplasms, Germ Cell and Embryonal
    Language English
    Publishing date 2023-10-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.1177/10935266231204788
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5063: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  7. Article: Histopathological Spectrum and Molecular Characterization of Liver Tumors in the Setting of Fontan-Associated Liver Disease.

    Francalanci, Paola / Giovannoni, Isabella / Tancredi, Chantal / Gagliardi, Maria Giulia / Palmieri, Rosalinda / Brancaccio, Gianluca / Spada, Marco / Maggiore, Giuseppe / Pietrobattista, Andrea / Monti, Lidia / Castellano, Aurora / Giustiniani, Maria Cristina / Onetti Muda, Andrea / Alaggio, Rita

    Cancers

    2024  Volume 16, Issue 2

    Abstract: Purpose: Univentricular heart is corrected with the Fontan procedure (FP). In the long term, so-called Fontan-associated liver diseases (FALDs) can develop. The aim of this study is to analyze the molecular profile of FALDs.: Methods: FALDs between ... ...

    Abstract Purpose: Univentricular heart is corrected with the Fontan procedure (FP). In the long term, so-called Fontan-associated liver diseases (FALDs) can develop. The aim of this study is to analyze the molecular profile of FALDs.
    Methods: FALDs between January 1990 and December 2022 were reviewed for histology and immunohistochemistry, laboratory data, and images. Targeted next generation sequencing (NGS), performed on the DNA and RNA of both neoplastic and non-lesional liver tissue, was applied.
    Results: A total of 31/208 nodules > 1 cm in diameter were identified on imaging, but a liver biopsy was available for five patient demonstrating the following: one hepatocellular adenoma (HA), two hepatocellular carcinomas (HCCs), one fibrolamellar carcinoma (FLC), and one intrahepatic cholangiocarcinoma (ICC). Molecular analysis showed a copy number alteration involving
    Conclusions: Neoplastic FALDs show some unusual molecular profiles compared with non-Fontan ones. The presence of the same alterations in non-lesional cardiac cirrhosis could contribute to the development of FALD.
    Language English
    Publishing date 2024-01-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers16020307
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  8. Article: Biliary atresia in preterm infants: a single center experience and review of literature.

    Beati, Federico / Mosca, Antonella / Pietrobattista, Andrea / Liccardo, Daniela / Ronci, Sara / Monti, Lidia / Francalanci, Paola / Spada, Marco / Maggiore, Giuseppe / Bagolan, Pietro / Fusaro, Fabio

    Frontiers in surgery

    2024  Volume 11, Page(s) 1353424

    Abstract: Introduction: The diagnosis of biliary atresia (BA) remains challenging, and there is still uncertainty regarding the optimal time to perform a Kasai portoenterostomy (KPE). Little is known about the difficulties in the diagnosis and outcomes of BA in ... ...

    Abstract Introduction: The diagnosis of biliary atresia (BA) remains challenging, and there is still uncertainty regarding the optimal time to perform a Kasai portoenterostomy (KPE). Little is known about the difficulties in the diagnosis and outcomes of BA in preterm infants (PBA). This study, which represents the first Italian report of preterm infants with BA, aims to describe a single-center experience of BA in preterm newborns.
    Methods: We retrospectively reviewed all infants consecutively diagnosed with BA who underwent a Kasai procedure at the Bambino Gesù Children's Hospital between January 1998 and December 2021. Prematurity was defined as a gestational age (GA) of <37 weeks. Demographic, laboratory, and histology data were recorded, and the main outcomes considered were clearance of jaundice (COJ), native liver survival, and mortality.
    Results: A total of 21 PBA were compared with 117 term BA controls (TBA). The median GA of PBA was 35.1 (32-36.1) weeks, with a mean birth weight of 2,100 (1,897-2,800) g. Age at first presentation was significantly lower in PBA patients: 46 (22-68) vs. 61 (44-72) days;
    Conclusion: The PBA and TBA groups appear to have similar outcomes in terms of COJ, overall native liver survival, and 5-year liver survival. Considering the corrected GA, early KPE is related to lower cholestatic damage. Further multicenter studies are required.
    Language English
    Publishing date 2024-03-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2773823-1
    ISSN 2296-875X
    ISSN 2296-875X
    DOI 10.3389/fsurg.2024.1353424
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  9. Article: A novel

    Biolato, Marco / Terranova, Rosy / Viceconti, Nicholas / Marrone, Giuseppe / Miele, Luca / Giustiniani, Maria Cristina / Francalanci, Paola / Gazzellone, Annalisa / Bauleo, Alessia / Falcone, Elena / Genuardi, Maurizio / Grieco, Antonio

    Gastroenterology report

    2024  Volume 12, Page(s) goae022

    Language English
    Publishing date 2024-04-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2710871-5
    ISSN 2052-0034
    ISSN 2052-0034
    DOI 10.1093/gastro/goae022
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  10. Article: Recurrent Wheezing in Pre-school Age: Not Only Airway Reactivity!

    Roversi, Marco / Porcaro, Federica / Francalanci, Paola / Carotti, Adriano / Cutrera, Renato

    Frontiers in pediatrics

    2020  Volume 8, Page(s) 101

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2020-03-17
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2020.00101
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