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  1. Article ; Online: Molecular advances, clinical management, and treatment opportunities in RASopathies.

    Leoni, Chiara / Neri, Giovanni

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 411–413

    MeSH term(s) Humans ; MAP Kinase Signaling System ; Signal Transduction
    Language English
    Publishing date 2022-12-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Intracranial artery dissection and acute ischaemic stroke: A diagnostic conundrum for mechanical thrombectomy?

    Cellerini, Martino / Leoni, Chiara

    Journal of neuroradiology = Journal de neuroradiologie

    2021  Volume 48, Issue 5, Page(s) 404–405

    MeSH term(s) Arteries ; Brain Ischemia/diagnostic imaging ; Dissection ; Humans ; Ischemic Stroke ; Stroke/diagnostic imaging ; Thrombectomy ; Treatment Outcome
    Language English
    Publishing date 2021-01-27
    Publishing country France
    Document type Letter
    ZDB-ID 131763-5
    ISSN 1773-0406 ; 0150-9861
    ISSN (online) 1773-0406
    ISSN 0150-9861
    DOI 10.1016/j.neurad.2021.01.008
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  3. Article ; Online: Bone health in RASopathies.

    Stevenson, David A / Viscogliosi, Germana / Leoni, Chiara

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 459–470

    Abstract: The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan ... ...

    Abstract The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations. Osteopenia and osteoporosis are reported in many of the RASopathies suggesting a shared pathogenesis. Even though osteopenia and osteoporosis are often detected and fractures have been reported, the clinical impact of bone mineralization defects on the skeleton of the various syndromes is poorly understood. Further knowledge of the role of the Ras/MAPK pathway on the bone cellular function, and more detailed musculoskeletal phenotyping will be critical in helping to develop therapies to improve bone health in the RASopathies.
    MeSH term(s) Humans ; Bone Density/genetics ; Noonan Syndrome/genetics ; Heart Defects, Congenital/genetics ; Bone Diseases, Metabolic/genetics ; Osteoporosis/genetics
    Language English
    Publishing date 2022-12-02
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32020
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  4. Article ; Online: Dermatological manifestations, management, and care in RASopathies.

    Kavamura, Maria Ines / Leoni, Chiara / Neri, Giovanni

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 452–458

    Abstract: RASopathies are rare genetic disorders caused by germline pathogenic variants in genes belonging to the RAS/MAPK pathway, which signals cell proliferation, differentiation, survival and death. The dysfunction of such signaling pathway causes syndromes ... ...

    Abstract RASopathies are rare genetic disorders caused by germline pathogenic variants in genes belonging to the RAS/MAPK pathway, which signals cell proliferation, differentiation, survival and death. The dysfunction of such signaling pathway causes syndromes with overlapping clinical manifestations. Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, formerly known as LEOPARD syndrome, Costello syndrome, neurofibromatosis (NF1), Legius syndrome, Noonan-like syndrome with loose anagen hair (NSLH) and Noonan syndrome. As NF1, one of the most common RASopathies, described in 1882, has its clinical features well delineated, we will focus on the dermatological diagnosis, management and care of non-NF1 RASopathies, which are less known and more recently described. Dermatological manifestations are important clinical diagnostic elements that can aid differential diagnosis among RASopathies. They can affect dermis and epidermis, causing pigmented lesions (melanocytic nevi, café-au-lait spots, and lentigines), hyperkeratosis (keratosis pilaris, ulerythema ophryogenes, and palmoplantar keratosis) or hyperplasia. To date there are rare known links to malignancy, but oftentimes skin lesions require close attention because they can highly affect quality of life.
    MeSH term(s) Humans ; Quality of Life ; ras Proteins/genetics ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/therapy ; Costello Syndrome/diagnosis ; Costello Syndrome/genetics ; Costello Syndrome/therapy ; Darier Disease ; Mutation
    Chemical Substances ras Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2022-12-21
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32027
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  5. Article: Multidisciplinary Management of Costello Syndrome: Current Perspectives.

    Leoni, Chiara / Viscogliosi, Germana / Tartaglia, Marco / Aoki, Yoko / Zampino, Giuseppe

    Journal of multidisciplinary healthcare

    2022  Volume 15, Page(s) 1277–1296

    Abstract: Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations ... ...

    Abstract Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in
    Language English
    Publishing date 2022-06-02
    Publishing country New Zealand
    Document type Journal Article ; Review
    ZDB-ID 2453343-9
    ISSN 1178-2390
    ISSN 1178-2390
    DOI 10.2147/JMDH.S291757
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  6. Article ; Online: Advanced repeated structuring and learning procedure to detect acute myocardial ischemia in serial 12-lead ECGs.

    Sbrollini, Agnese / Ter Haar, C Cato / Leoni, Chiara / Morettini, Micaela / Burattini, Laura / Swenne, Cees A

    Physiological measurement

    2023  Volume 44, Issue 8

    Abstract: ... ...

    Abstract Objectives
    MeSH term(s) Humans ; Myocardial Ischemia/diagnosis ; Myocardial Infarction/diagnosis ; Electrocardiography/methods ; Heart Diseases ; Neural Networks, Computer
    Language English
    Publishing date 2023-08-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 1149545-5
    ISSN 1361-6579 ; 0967-3334
    ISSN (online) 1361-6579
    ISSN 0967-3334
    DOI 10.1088/1361-6579/ace241
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  7. Article ; Online: Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations.

    Rigante, Donato / Leoni, Chiara / Onesimo, Roberta / Giorgio, Valentina / Trevisan, Valentina / Zampino, Giuseppe

    Autoimmunity reviews

    2023  Volume 22, Issue 11, Page(s) 103462

    MeSH term(s) Humans ; Mutation ; Phenotype ; Intracellular Signaling Peptides and Proteins
    Chemical Substances SHOC2 protein, human ; Intracellular Signaling Peptides and Proteins
    Language English
    Publishing date 2023-10-02
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2144145-5
    ISSN 1873-0183 ; 1568-9972
    ISSN (online) 1873-0183
    ISSN 1568-9972
    DOI 10.1016/j.autrev.2023.103462
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    Zs.A 5913: Show issues Location:
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  8. Article: Chitinolytic Enzymes of the Hyperparasite Fungus

    Leoni, Claudia / Manzari, Caterina / Chiara, Matteo / Veronico, Pasqua / Bruno, Giovanni Luigi / Pesole, Graziano / Ceci, Luigi R / Volpicella, Mariateresa

    Microorganisms

    2023  Volume 11, Issue 5

    Abstract: The filamentous ... ...

    Abstract The filamentous fungus
    Language English
    Publishing date 2023-05-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2720891-6
    ISSN 2076-2607
    ISSN 2076-2607
    DOI 10.3390/microorganisms11051357
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  9. Article ; Online: Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature.

    Onesimo, Roberta / Agazzi, Cristiana / Massimi, Luca / Giorgio, Valentina / Leoni, Chiara / Zampino, Giuseppe / Rendeli, Claudia

    Italian journal of pediatrics

    2023  Volume 49, Issue 1, Page(s) 89

    Abstract: Background: Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been ... ...

    Abstract Background: Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described.
    Case presentation: We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes.
    Conclusion: At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications.
    MeSH term(s) Child ; Humans ; Female ; Urinary Bladder ; Down Syndrome/complications ; Urinary Incontinence/complications ; Constipation ; Gastrointestinal Diseases ; Neural Tube Defects/complications ; Neural Tube Defects/diagnosis
    Language English
    Publishing date 2023-07-20
    Publishing country England
    Document type Review ; Case Reports ; Journal Article
    ZDB-ID 2088556-8
    ISSN 1824-7288 ; 1720-8424
    ISSN (online) 1824-7288
    ISSN 1720-8424
    DOI 10.1186/s13052-023-01412-z
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  10. Article ; Online: Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

    Romeo, Domenico Marco / Pironi, Virginia / Velli, Chiara / Sforza, Elisabetta / Rigante, Donato / Giorgio, Valentina / Leoni, Chiara / De Rose, Cristina / Kuczynska, Eliza Maria / Limongelli, Domenico / Ruiz, Roberta / Agazzi, Cristiana / Mercuri, Eugenio / Zampino, Giuseppe / Onesimo, Roberta

    European journal of medical genetics

    2024  Volume 68, Page(s) 104930

    Abstract: Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous ... ...

    Abstract Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories. This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children. A total of 33 children (mean age 6.4 ± 3.2 years; age range 1-12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers. Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females. Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood. The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients' follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. Further prospective studies are needed to explore the natural history of ligamentous laxity in ACH and investigate the potential impact of emerging pharmacological treatments upon hypermobility.
    MeSH term(s) Male ; Child ; Child, Preschool ; Female ; Humans ; Adult ; Infant ; Prevalence ; Quality of Life ; Joint Instability/epidemiology ; Achondroplasia/epidemiology ; Achondroplasia/genetics ; Prospective Studies ; Osteochondrodysplasias
    Language English
    Publishing date 2024-02-28
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2024.104930
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