Publications by authors named "M Aracena"

Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients.

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Article Synopsis
  • Rare diseases impact millions worldwide, predominantly caused by genetic factors, and advancements in next-generation sequencing have significantly improved diagnosis in the last decade.
  • Many countries still lack access to these diagnostic tools, creating healthcare disparities and prolonging the "diagnostic odyssey" for patients.
  • The DECIPHERD program in Chile developed a hybrid approach to genomic diagnosis, successfully identifying pathogenic variants in a significant portion of patients, thereby illustrating a potential model for addressing similar challenges in other low-resource settings.
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Background: Primary care providers (PCPs) are relevant stakeholders for primary care research (PCR).

Objective: We report the perceived importance and interest in PCR of a national sample of Chilean PCPs.

Methods: We conducted a cross-sectional study targeting Chilean PCPs.

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Background: Chile is implementing a Community Mental Health Model with a strong role of primary health care (PHC). PHC has great potential to early detection and provision of accessible and coordinated services to people who present mental illness and/or substance use issues (MISUI). However, stigma toward people with MISUI among PHC professionals is a significant barrier to accessing good quality of care.

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Home visiting programs are evidence-based interventions that have a myriad outcomes for mothers and newborns. Chile offers these services as part of the Chile Crece Contigo, a nationwide program. However, implementing home visiting programs in community settings is difficult.

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