Browsing by Author "Durán Saavedra, Gloria Patricia"

Now showing 1 - 6 of 6
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    Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly
    (2021) Avila Smirnow, Daniela; Durán Saavedra, Gloria Patricia; Ovalle Besa, P.; Gejman Enríquez, Roger
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    Large mitochondrial DNA deletion in an infant with addison disease
    (Springer, 2012) Durán Saavedra, Gloria Patricia; Martínez Aguayo, Alejandro; Poggi, Helena; Lagos Lucero, Marcela; Gutiérrez, D.; Harris D., Paul R.
    Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns–Sayre syndrome. Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion. Method: Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue. Results: A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA. Conclusions: This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.
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    Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naive patients with Gaucher disease
    (2019) Zimran, A.; Durán Saavedra, Gloria Patricia; Giraldo, P.; Rosenbaum, H.; Giona, F.; Petakov, M.; Munoz, E.T.; Solorio-Meza, S.E.; Cooper, P.A.; Varughese, S.; Alon, S.; Chertkoff, R.
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    Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naive patients with Gaucher disease
    (2016) Zimran, A.; Durán Saavedra, Gloria Patricia; Mehta, A.; Giraldo, P.; Rosenbaum, H.; Giona, F.; Amato, D.; Petakov, M.; Munoz, E.; Solorio, S.; Cooper, P.; Varughese, S.; Chertkoff, R.; Brill Almon, E.
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    Orientaciones éticas para la toma de decisiones médicas en el contexto de la pandemia de COVID-19 en Chile
    (2020) Valera, Luca; Carrasco Barraza, Maria Alejandra; Lopez Barreda, Rodrigo Alonso; Ramos Vergara, Paulina Cecilia; Bernhardi Montgomery, Rommy von; Bedregal Garcia, Paula; Florenzano, Alejandra; Pérez Hernández, Iván Modesto; Olivares Osorio, Patricia Carolina; Vargas Celis, Ivonne; González, Ximena; López S., Paulo; Durán Saavedra, Gloria Patricia; Richards, Constanza; Castro, Ricardo
    The catastrophic emergency experienced by many countries with the COVID-19 pandemic emphasized the importance of bioethics for decision-making, both at the public health (equitable and effective policies) and at the clinical level. At the clinical level, the issues are the fulfillment of medical care demand with adequate health care teams, infrastructure, and supplies, and to cover critical care demands that surpass the available resources. Therefore, ethically correct approaches are required for the allocation of life sustaining resources. There are recommendations for the allocating life support during disasters based on multiple considerations, including ethical ones. However, the ethical criteria of existing guidelines are variable. Ethical principles usually considered are saving the greatest number of lives, saving the greatest number of years of life and the principle of the life cycle or the goal to give each individual equal opportunity to live through the various phases of life. However, the centrality of the human being and the search for the common good should be considered. Knowledge of public perspectives and moral benchmarks on these issues is essential. A successful assignment effort will require everyone's trust and cooperation. Decision making should be planned and discussed in advance, since in-depth deliberation will be extremely complex during the disaster. Our goal is to help the health care teams to wisely allocate resources in shortage periods.
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    Porfiria eritropoyética congénita: reporte de un caso y recomendaciones de manejo
    (2018) Salomone, Claudia; Ogueta C.I.; Reyes, V.C.; Durán Saavedra, Gloria Patricia; Aguirre, N.; Wietstruck, Angelica