13 documents found, page 1 of 2
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG)
Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.We would like to express our gratitude to the all CDG patient organizations and professionals who actively partnered with us in conducting this community-centered research led by the CDG & Allies \u2013 Patient Advocacy and International Research Network. We would also like to acknowledge the support of MetaBERN and FCDGC, as well as other CDG patient organizations worldwide, namely CDG Care, CDG Mexico, and Si...
Sialyl LewisX/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer
Pascoal, Carlota; Carrascal, Mylène A.; Barreira, Daniela F.; Lourenço, Rita A.; Granjo, Pedro; Grosso, Ana R.; Borralho, Paula; Braga, Sofiaproject LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB. Publisher Copyright: © 2023 by the authors.; Triple-negative breast cancer (TNBC) encompasses multiple entities and is generally highly aggressive and metastatic. We aimed to determine the clinical and biological relevance of Sialyl-Lewis X and A (sLeX/A)—a fucosylated glycan involved in metastasis—in TNBC. Here, we stu...
A Community-Based Participatory Framework to Co-Develop Patient Education Mater...
Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria GraziaFunding Information: Dorinda da Silva acknowledge the funding from LA/P/0045/2020 (ALiCE), funded by national funds through FCT/MCTES (PIDDAC). Pedro Granjo was supported by CDG & Allies funding. Cláudia de Freitas acknowledges funding from the Foundation for Science and Technology-FCT under the Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR) (LA/P/0064/2020), the individ...
A Participatory Framework for Plain Language Clinical Management Guideline Deve...
Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, AndreaSandra Brasil was supported by CDG & Allies—PPAIN funding. Publisher Copyright: © 2022 by the authors.; Background: Clinical management guidelines (CMGs) are decision support tools for patient care used by professionals, patients, and family caregivers. Since clinical experts develop numerous CMGs, their technical language hinders comprehension and access by nonmedical stakeholders. Additionally, the views of a...
Stakeholders' views on drug development
Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques-da-Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.BACKGROUND: Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical/scientific and patient communities. Hence, CDG drug development is a popular research topic. The main aim of this study was to understand current and steer futur...
The road to successful people-centric research in rare diseases
Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Dos Reis Ferreira, VanessaFunding Information: This work is financed by national funds from FCT—Fundação para a Ciência e a Tecnologia, I.P., in the scope of the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB. Publisher Copyright: © 2022, The Author(s).; BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection fac...
Systematic Review
Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C.M.; Santos, Inês; Raposo, Madalena; Francisco, Rita; Pascoal, Carlota; Martins, TiagoR.F. and acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. S.B. was supported by CDG & Allies—PAIN funding. M.A. acknowledges PhD program at the DISTABIF, Università degli Studi della Campania “Luigi Vanvitelli”, PhD fellowship POR Campania FSE 2014/2020 “Dottorati di Ricerca Con Caratterizzazione Industriale”.; Advances in research have boosted therapy development for conge...
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research...
Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, CláudiaFunding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base. DL57/2016/CP1336/CT0001. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.; Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effe...
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahP. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (...
New Insights into Immunological Involvement in Congenital Disorders of Glycosyl...
Francisco, Rita; Pascoal, Carlota; Marques-da-Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M; Altassan, Ruqaiah; Jaeken, JaakSFRH/BD/124326/2016 SFRH/BD/138647/2018; Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations' prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG p...