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Gaucher Registry overview
Source publication
There are many registries in Latin America as dialysis and kidney transplantation, breast cancer, primary immunodeficiency, acute coronary syndromes, but the focus here are the registries of lysosomal storage diseases (LSD) because is our experience. Registry of Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis type I are com...
Citations
... Although a number of small, voluntary rare disease registries exist in Latin America, Colombia appears to have the only national one in our study countries. 84,85 Costa Rica and Uruguay also have population-wide registries, but these are specifically for diseases found at birth, not rare diseases as a whole. 86 Brazil, since introducing a new rare disease policy has been committed to creating a national database, but the repetitions of this promise over the years indicate that little progress has occurred. ...
“Personalised Healthcare in Latin America: Universalising the promise of innovation” is a report written by The Economist Intelligence Unit. It describes current and future trends on Personalised Healthcare systems in Latin America, providing an assessment of the current state, barriers, enablers and opportunity areas over nine countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Ecuador, Mexico, Peru and Uruguay. The research was sponsored by Roche Foundation Medicine®.
... (1,3). Dados obtidos a partir de registro internacional de pacientes com DP, independente da forma clínica, mostram que 53/763 (7%) pacientes são acompanhados na América Latina (13). Atualmente há, no Brasil, em torno de 106 pacientes em tratamento pela terapia de reposição enzimática (TRE) com DP (14). ...
Doença de Pompe
Portaria Conjunta SAES/SCTIE nº 12 - 03/08/2020
... 38,[88][89][90][91][92] Recent reports from these registries indicate that diagnostic delay for patients with Pompe disease is still significant; fewer than two-third of muscle biopsies done in French patients showed specific features of Pompe disease, thus confirming the importance of GAA enzymatic assessment, and high prevalence of scoliosis (33%), especially among patients with IOPD. [109][110][111][112][113] Systematic analysis of data collected from the Pompe Registry will help improve recognition of the disease, and enhance understanding of its variable course and the effect of direct interventions, such as current ERT and other potential future therapies. ...
... Searching the LILACS (Latin America and Caribbean Health Science Literature Database) and MEDLINE databases using the keywords 'rare disease' and 'registry' and 'Latin America', we could retrieve only publications on primary immunodeficiency [12] and lysosomal storage disorders [13,14]. Thus, it appears that there is no method for collecting data in an organized manner. ...
... RD registries in Latin America help build our knowledge of the natural history and phenotypic variability of diseases. They also enhance treatment responses to these diseases in our specific population [13]. ...
Standardized electronic registries are increasingly becoming an entry point to adopting client health records and facilitating population-level tracking of health services. They offer diverse functionalities including vital events tracking, electronic health records, electronic decision support, provide work planning and scheduling. However, electronic registries can only be appropriately designed by first getting a comprehensive picture of the actual tasks and processes associated with service provision; the issues and barriers experienced; and the content and flow of data - all within the local context and aligned with the local infrastructure. In this work a core group of experienced frontline health workers employed at the World Health Organization Headquarters was invited to collaboratively map and analyze the common workflows of healthcare workers involved in contraceptive care. The core group then collaboratively identified common functional user requirements that facilitate the development of electronic registries that support contraceptive care. The output from this work shows that involving frontline healthcare workers in requirements engineering for development of electronic registries is indeed a practical approach and a vital first step in ensuring their acceptability among users and applicability to clinical domains. The requirements gathered can be customized and used as guidance for software professionals developing electronic registries for use in various healthcare settings and contexts worldwide.
Antecedentes:
esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), se describe en una mujer adulta, desencadenada por el embarazo. Es una mutación sin sentido por sustitución, homocigótica, probablemente patógena.
Reporte del caso:
se trata de una mujer adulta mestiza, nacida y residente en Ecuador, que durante su período de lactancia, después de un embarazo y un parto por cesárea, debutó con un trastorno musculoesquelético. Se hospitalizó a la paciente en el Hospital Eugenio Espejo en Quito, Ecuador; donde ella ha sido readmitida por varias veces. Los hallazgos clínicos más relevantes fueron debilidad muscular proximal, debilidad muscular de las extremidades inferiores, dificultad para subir escaleras, insuficiencia respiratoria debido a debilidad muscular, edema de las extremidades inferiores, deterioro de las actividades de la vida diaria, ortopnea, trastornos del sueño y debilidad muscular. Además, encontró niveles elevados de creatina quinasa sérica, actividad enzimática y coenzima anormal, escoliosis lumbar, hipertensión arterial pulmonar, con regurgitación tricuspídea y regurgitación mitral leve, reemplazo graso del músculo esquelético, insuficiencia pulmonar, miopatía esquelética y descargas miotónicas en EMG.
Conclusión:
esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), la sustitución por una mutación sin sentido, homocigota, probablemente patógena se describe en un adulto. Es el primer caso desencadenado por el embarazo, el primer caso de inicio tardío descrito en Ecuador y el primer caso descrito en una mujer mestiza de Ecuador.
Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.
