Publications by authors named "Mario Stoll"
Objective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.
View Article and Find Full Text PDFReducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
JAMA Cardiol
February 2020
Article Synopsis
- - Familial hypercholesterolemia (FH) is a genetic condition affecting 1 in 200 to 250 people globally, causing severe health risks due to lack of diagnosis and treatment, with only 10% of cases being identified.
- - The World Health Organization designated FH as a public health priority in 1998 and issued 11 recommendations to improve its diagnosis, treatment, and awareness, but there has been minimal progress in their implementation over the last two decades.
- - In 2018, the FH Foundation and World Heart Federation held meetings to update these recommendations by gathering input from international stakeholders across various income regions to address gaps and enhance FH management.
Background And Aims: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries.
Methods: Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management.
Background: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.
Objective: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.
Background: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide.
View Article and Find Full Text PDFBreast cancer (BC) is a polygenic and multifactorial disease for which estrogens have been recognized as the main risk factor, and for which lifestyle plays a key role. Previous epidemiologic cancer research performed in Uruguayan population delimited its dietary and anthropometric profiles. Recognizing the difficulty for universalizing a nutritional basis for prevention due to different eating patterns among regions and countries, we summarize the existent knowledge linking nutrition, estrogens, metabolism and BC.
View Article and Find Full Text PDFObjective: To explore possible relationships among blood factors, family history of breast cancer (BC) and the risk of the disease, a case-control study was carried out in Montevideo, Uruguay.
Methods: Eight hundred and one patients were interviewed, including 252 certified cases of BC and 549 frequency-matched controls. Blood groups (ABO, Rh) were obtained from medical records.