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  1. Article ; Online: Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.

    Pepe, Guglielmina / Mariucci, Elisabetta / Nistri, Stefano

    Kardiologia polska

    2023  Volume 81, Issue 11, Page(s) 1067–1068

    MeSH term(s) Humans ; Loeys-Dietz Syndrome/diagnostic imaging ; Arteries/diagnostic imaging ; Vascular Malformations ; Skin Diseases, Genetic
    Language English
    Publishing date 2023-11-24
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 411492-9
    ISSN 1897-4279 ; 0022-9032
    ISSN (online) 1897-4279
    ISSN 0022-9032
    DOI 10.33963/v.kp.98163
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 598: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 474: Show issues

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  2. Article: Fibrillins in Tendon.

    Giusti, Betti / Pepe, Guglielmina

    Frontiers in aging neuroscience

    2016  Volume 8, Page(s) 237

    Abstract: Tendons among connective tissue, mainly collagen, contain also elastic fibers (EF) made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on ...

    Abstract Tendons among connective tissue, mainly collagen, contain also elastic fibers (EF) made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on structure and function of EF in tendons have been performed. Aim of this review is to revise data on the organization of EF in tendons, in particular fibrillin structure and function, and on the clinical manifestations associated to alterations of EF in tendons. Indeed, microfibrils may contribute to tendon mechanics; therefore, their alterations may cause joint hypermobility and contractures which have been found to be clinical features in patients with Marfan syndrome (MFS) and Beals syndrome. The two diseases are caused by mutations in genes FBN1 and FBN2 encoding fibrillin 1 and fibrillin 2, respectively.
    Language English
    Publishing date 2016-10-20
    Publishing country Switzerland
    Document type Review ; Journal Article
    ZDB-ID 2558898-9
    ISSN 1663-4365
    ISSN 1663-4365
    DOI 10.3389/fnagi.2016.00237
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach.

    Frasconi, Paolo / Baracchi, Daniele / Giusti, Betti / Kura, Ada / Spaziani, Gaia / Cherubini, Antonella / Favilli, Silvia / Di Lenarda, Andrea / Pepe, Guglielmina / Nistri, Stefano

    Diagnostics (Basel, Switzerland)

    2021  Volume 11, Issue 2

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2021-02-02
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics11020220
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Another piece in the puzzle of bicuspid aortic valve syndrome.

    Nistri, Stefano / Giusti, Betti / Pepe, Guglielmina / Cademartiri, Filippo

    European heart journal cardiovascular Imaging

    2016  Volume 17, Issue 11, Page(s) 1248–1249

    MeSH term(s) Aortic Valve/abnormalities ; Aortic Valve/diagnostic imaging ; Aortic Valve/physiopathology ; Bicuspid Aortic Valve Disease ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Heart Valve Diseases/diagnostic imaging ; Heart Valve Diseases/genetics ; Heart Valve Diseases/physiopathology ; Humans ; Magnetic Resonance Imaging, Cine/methods ; Male ; Pedigree ; Prognosis ; Risk Assessment ; Syndrome
    Language English
    Publishing date 2016-08-07
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 2638345-7
    ISSN 2047-2412 ; 2047-2404
    ISSN (online) 2047-2412
    ISSN 2047-2404
    DOI 10.1093/ehjci/jew169
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5614: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article: Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.

    De Cario, Rosina / Giannini, Marco / Cassioli, Giulia / Kura, Ada / Gori, Anna Maria / Marcucci, Rossella / Nistri, Stefano / Pepe, Guglielmina / Giusti, Betti / Sticchi, Elena

    Diagnostics (Basel, Switzerland)

    2022  Volume 12, Issue 8

    Abstract: The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and "elusive", as it generally grows asymptomatically prior to rupture, leading to death ... ...

    Abstract The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and "elusive", as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity/sensitivity, and, in most cases, they need more testing before entering the "clinical arena". This review summarizes the state of the art of the laboratory in TAA/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.
    Language English
    Publishing date 2022-07-22
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics12081785
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

    Nistri, Stefano / De Cario, Rosina / Sticchi, Elena / Spaziani, Gaia / Della Monica, Matteo / Giglio, Sabrina / Favilli, Silvia / Giusti, Betti / Stefano, Pierluigi / Pepe, Guglielmina

    Genes. 2021 Sept. 22, v. 12, no. 10

    2021  

    Abstract: Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features ...

    Abstract Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.
    Keywords aneurysm ; dissection ; genes ; genetic analysis ; haploinsufficiency ; iliac artery ; palate ; patients ; phenotype
    Language English
    Dates of publication 2021-0922
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12101462
    Database NAL-Catalogue (AGRICOLA)

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  7. Article ; Online: Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

    Nistri, Stefano / De Cario, Rosina / Sticchi, Elena / Spaziani, Gaia / Della Monica, Matteo / Giglio, Sabrina / Favilli, Silvia / Giusti, Betti / Stefano, Pierluigi / Pepe, Guglielmina

    Genes

    2021  Volume 12, Issue 10

    Abstract: Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features ...

    Abstract Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.
    MeSH term(s) Chromosome Deletion ; Diagnosis, Differential ; Female ; Humans ; Loeys-Dietz Syndrome/diagnosis ; Loeys-Dietz Syndrome/genetics ; Male ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Pedigree ; Transforming Growth Factor beta2/genetics
    Chemical Substances TGFB2 protein, human ; Transforming Growth Factor beta2
    Language English
    Publishing date 2021-09-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12101462
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.

    Giusti, Betti / Sticchi, Elena / De Cario, Rosina / Magi, Alberto / Nistri, Stefano / Pepe, Guglielmina

    Frontiers in physiology

    2017  Volume 8, Page(s) 612

    Abstract: Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. ... ...

    Abstract Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication. A 4-fold increase in BAV prevalence in a large cohort of unrelated MFS patients with respect to general population was reported, as well as in LDS patients (8-fold). It is also known that BAV is more frequent in patients with thoracic aortic aneurysm (TAA) related to mutations in
    Language English
    Publishing date 2017-08-24
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2564217-0
    ISSN 1664-042X
    ISSN 1664-042X
    DOI 10.3389/fphys.2017.00612
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.

    Sticchi, Elena / De Cario, Rosina / Magi, Alberto / Giglio, Sabrina / Provenzano, Aldesia / Nistri, Stefano / Pepe, Guglielmina / Giusti, Betti

    BioMed research international

    2018  Volume 2018, Page(s) 8386123

    Abstract: Background. ...

    Abstract Background.
    MeSH term(s) Aortic Valve/abnormalities ; Bicuspid Aortic Valve Disease ; Dilatation, Pathologic ; Fibrillin-1/genetics ; Genetic Variation ; Heart Valve Diseases/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Italy ; Male ; Middle Aged ; Phenotype ; Receptor, Notch1/genetics
    Chemical Substances FBN1 protein, human ; Fibrillin-1 ; NOTCH1 protein, human ; Receptor, Notch1
    Language English
    Publishing date 2018-09-05
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2698540-8
    ISSN 2314-6141 ; 2314-6133
    ISSN (online) 2314-6141
    ISSN 2314-6133
    DOI 10.1155/2018/8386123
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

    De Cario, Rosina / Kura, Ada / Suraci, Samuele / Magi, Alberto / Volta, Andrea / Marcucci, Rossella / Gori, Anna Maria / Pepe, Guglielmina / Giusti, Betti / Sticchi, Elena

    Frontiers in genetics

    2020  Volume 11, Page(s) 592588

    Abstract: Next-generation sequencing (NGS)'s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature producing false- ... ...

    Abstract Next-generation sequencing (NGS)'s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature producing false-positive/negative NGS data together with the paucity of internationally accepted guidelines providing specified NGS quality metrics to be followed for diagnostics purpose made the Sanger validation of NGS variants still mandatory. We reported the analysis of three cases of discrepancy between NGS and Sanger sequencing in a cohort of 218 patients. NGS was performed by Illumina MiSeq
    Language English
    Publishing date 2020-12-02
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2020.592588
    Database MEDical Literature Analysis and Retrieval System OnLINE

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