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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.
If you'd like to receive a full copy of any of these papers, please write to sindromecdg@gmail.com
Scientific Publications:
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27/04/2018
This paper systematically lists and explains the therapeutic advances being made for CDG. Some therapies are already available, while other are still in early development stages. Nevertheless, many exciting advances have been made in the field of CDG treatments.
You can find the abstract HERE and order the complete article HERE. |
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29/11/2018
Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and necessary tools, namely in clinical trials. PROMs are instruments that capture directly the patient experience with their disease. One of the aspects most commonly assessed by PROMs is health-related quality of life (HrQoL).
Inherited Metabolic Diseases (IMDs) - among which CDG are included - are a group of disorders that range from mild to severe clinical presentations, but most lacking effective therapies. This work focuses on the existing PROMs tools to measure HrQoL among this patient population. You can find the abstract HERE and order the complete article HERE. |
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09/11/2018
This paper acts as a diagnosis roadmap for clinicians and intendeds to help guide them throughout the process of a CDG diagnosis - from suspicion to genetic confirmation.
It also includes n updated list of all CDG types identified to date. Finally, this short review can also be used as a lobbying and awareness tool. You can find the abstract HERE and order the complete article HERE. |
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01/02/2018
This systematic review of the literature identifies CDG subtypes, caused by defects in the O-glycosylation mechanism subtypes, with eye involvement.
We identified eye problem in 15 CDG subtypes, which means that over 60% of all O-glycosylation CDG have vision affectation. We also discuss and describe potential causative molecular mechanisms and present exisitng animal models, as well as explore possible therapeutic avenues. We believe this work can improve diagnosis,care and management of eye impairment in CDG patients, while also guiding research and promoting theray development. You can find the abstract HERE and order the complete article HERE. |
- PATIENT-CENTRICITY IN CDG CARE & RESEARCH
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29/09/2017
This qualitative study was based on the think thank methodology applied to the CDG Community. It counted with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. Participants were asked to identify their needs and suggest social measures that could result in a better and patient-centred approach to care and research. Suggested. social innovations included peer-support communities, web-based information resources and a CDG expertise platform.
You can find the abstract HERE and order the complete article HERE. |
- CARDIOLOGY
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19/07/2017
This literature review summarizes cardiac involvement, reported in 20% of CDG.
CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways. The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. You can find the abstract HERE and order the complete article HERE. |
- HEPATOLOGY
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26/07/2018
This paper focuses on the application of an online patient-centered questionnaire to evalute liver involvement in CDG patients. A total of 155 questionnaires were completed. Impressively, the results obtained from this approach match those acquired through a thorough revision f the literature on this topic.
This innovative research strategy outcomes many of the limitations related to rare disease research, accelerates the research projects while empowering patients and families and reinforcing the link between families and professionals. You can find the abstract HERE and order the complete article HERE. 20/01/2017
Liver is among the affected organs in CDG Patients.
In this review, CDG are divided into major and minor categories in terms of severity and frequency of liver disease.
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- IMMUNOLOGY
CONFERENCES
SPDM2016 |
SPDM2017 |
SSIEM 2016 |
International CDG Scientific Symposium 2017
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International CDG Scientific Symposium2017
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International CDG Scientific Symposium 2017
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Other resources
Find more patient and community-friendly resources HERE.
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