Výsledky vyhledávání

Akademický článek

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Autor: Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)

Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidat

Externí odkaz: https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb

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Akademický článek

A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals

Autor: Rita Francisco, Carlota Pascoal, Pedro Granjo, Claudia de Freitas, Paula A. Videira, Vanessa dos Reis Ferreira

Publikováno v: Research Involvement and Engagement, Vol 10, Iss 1, Pp 1-13 (2024)

Abstract Background Patient and public co-creation and involvement in health initiatives have been witnessing great expansion in recent years. From healthcare to research settings, collaborative approaches are becoming increasingly prevalent and dive

Externí odkaz: https://doaj.org/article/249f803ac55b476f8a01c60c4e62ce68

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Akademický článek

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)

Autor: Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Abstract Background Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the resilience levels of

Externí odkaz: https://doaj.org/article/5e8a1a3aa442403aa3b5441d8a7d70de

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Akademický článek

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Autor: Carlota Pascoal, Rita Francisco, Patrícia Mexia, Beatriz Luís Pereira, Pedro Granjo, Helena Coelho, Mariana Barbosa, Vanessa dos Reis Ferreira, Paula Alexandra Videira

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response. Alterations in glycosylation can modulate the course of various pathologies, such as the case of conge

Externí odkaz: https://doaj.org/article/a518ea8f11db408eabd8b410a658803c

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Akademický článek

Status Epilepticus in Children: Experience in a Portuguese Tertiary Hospital

Autor: Catarina Granjo Morais, Marta João Silva, Teresa Cunha Mota, Ruben Rocha, Augusto Ribeiro

Publikováno v: Annals of Child Neurology, Vol 31, Iss 3, Pp 174-180 (2023)

Purpose Status epilepticus (SE) is a life-threatening neurological emergency, frequently diagnosed in pediatric patients. We aimed to characterize our pediatric cases of SE in an 11-year period according to the 2015 International League Against Epile

Externí odkaz: https://doaj.org/article/6e91b79775d84b82ab0ee771941b10a1

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Akademický článek

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis recurrence temporally associated with allergen-specific immunotherapy in a female adolescent: a case report

Autor: C. Granjo Morais, A. Martins, S. Ganhão, F. Aguiar, M. Rodrigues, I. Brito

Publikováno v: Reumatismo, Vol 75, Iss 4 (2023)

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in pediatric patients. It is clinically characterized by fever flares lasting 3-7 days, reappearing every 2-8 weeks wi

Externí odkaz: https://doaj.org/article/00f35a2bdd734e5799a738ddbad66143

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Akademický článek

Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

Autor: Catarina Granjo Morais, Rita Quental, Lara Lourenço, Micaela Guardiano, Cármen Silva, Miguel Leão

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)

Abstract Background The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene are known to corre

Externí odkaz: https://doaj.org/article/6dd9313af5404b4099c8d451ee3d51e7

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