Browsing by Author "Codner, Ethel"

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    Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3
    (AMER DIABETES ASSOC, 2011) Rubio Cabezas, Oscar; Jensen, Jan N.; Hodgson, Maria I.; Codner, Ethel; Ellard, Sian; Serup, Palle; Hattersley, Andrew T.
    OBJECTIVE-NEUROG3 plays a central role in the development of both pancreatic islets and enteroendocrine cells. Homozygous hypomorphic missense mutations in NEUROG3 have been recently associated with a rare form of congenital malabsolptive diarrhea secondary to enteroendocrine cell dysgenesis. Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes. We hypothesized that null mutations in NEUROG3 might be responsible for the disease in a patient with permanent neonatal diabetes and severe congenital malabsorptive diarrhea.
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    Second Consensus of the Chilean Society of Endocrinology and Diabetes about insulin resistance
    (SOC MEDICA SANTIAGO, 2015) Pollak, Felipe; Araya, Veronica; Lanas, Alejandra; Sapunar, Jorge; Arrese, Marco; Gloria Aylwin, Carmen; Gloria Bezanilla, Carmen; Carrasco, Elena; Carrasco, Fernando; Codner, Ethel; Diaz, Erik; Durruty, Pilar; Galgani, Jose; Garcia, Hernan; Lahsen, Rodolfo; Liberman, Claudio; Lopez, Gloria; Maiz, Alberto; Mujica, Veronica; Poniachik, Jaime; Sir, Teresa; Soto, Nestor; Valderas, Juan; Villaseca, Paulina; Zavala, Carlos
    Insulin resistance is a prevalent condition commonly associated with unhealthy lifestyles. It affects several metabolic pathways, increasing risk of abnormalities at different organ levels. Thus, diverse medical specialties should be involved in its diagnosis and treatment. With the purpose of unifying criteria about this condition, a scientific-based consensus was elaborated. A questionnaire including the most important topics such as cardio-metabolic risk, non-alcoholic fatty liver disease and polycystic ovary syndrome, was designed and sent to national experts. When no agreement among them was achieved, the Delphi methodology was applied. The main conclusions reached are that clinical findings are critical for the diagnosis of insulin resistance, not being necessary blood testing. Acquisition of a healthy lifestyle is the most important therapeutic tool. Insulin-sensitizing drugs should be prescribed to individuals at high risk of disease according to clinically validated outcomes. There are specific recommendations for pregnant women, children, adolescents and older people.