A5020064095- Genetic factors in colorectal cancer
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Aging, Health, and Disability
- Soft tissue tumor case studies
- Health disparities and outcomes
- Vascular Malformations and Hemangiomas
- Epigenetics and DNA Methylation
- MicroRNA in disease regulation
- Extracellular vesicles in disease
- Bioinformatics and Genomic Networks
- Colorectal Cancer Screening and Detection
- Gastric Cancer Management and Outcomes
- Neurogenetic and Muscular Disorders Research
- Colorectal Cancer Treatments and Studies
- Frailty in Older Adults
- Genetics and Neurodevelopmental Disorders
- Oral and gingival health research
- Boron Compounds in Chemistry
- Amyotrophic Lateral Sclerosis Research
- Bartonella species infections research
- RNA Research and Splicing
- Cardiac Health and Mental Health
Adolfo Ibáñez University
2021-2024
Center for Climate and Resilience Research
2018-2023
University of Chile
2023
Clínica Las Condes
2008-2020
Pontificia Universidad Católica de Chile
2008-2017
Washington Center
2014
University of Washington
2014
Hospital Vozandes
1997
Abstract Limited knowledge on dementia biomarkers in Latin American and Caribbean (LAC) countries remains a serious barrier. Here, we reported survey to explore the ongoing work, needs, interests, potential barriers, opportunities for future studies related biomarkers. The results show that neuroimaging is most used biomarker (73%), followed by genetic (40%), peripheral fluids (31%), cerebrospinal fluid (29%). Regarding barriers LAC, lack of funding appears undermine implementation clinical...
Congenital unilateral overgrowth of the upper extremity affecting only muscle tissue is rare. We describe on clinical, histopathological, and neuroimaging findings in a 6‐year‐old girl with congenital, non‐progressive enlargement entire left limb an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for AKT1 , PIK3CA PTEN genes identified activating c.3140A>G, p.H1047R mutation gene from affected DNA. demonstrate that isolated...
ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of approval first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop demographics SMA, timely access diagnosis, and appropriate following standards care recommendations patients. These are essential steps guide health policies. Methods This was a descriptive study cohort SMA patients from all over Chile. We analyzed clinical, motor functional, social data, as...
Abstract Background With the global population aging and life expectancy increasing, dementia has turned a priority in health care system. In Chile, is one of most important causes disability elderly rapidly growing cause death last 20 years. Cognitive complaint considered predictor for cognitive functional decline, incident mild impairment, dementia. The GERO cohort Chilean core clinical project Geroscience Center Brain Health Metabolism (GERO). objective to analyze rate decline progression...
A screening program for colorectal cancer inChilean subjects aged fi fty years or more Background: Mortality from (CCR) in Chile has nearly doubled over the past 15 years.International studies have shown that CCR programs based on fecal occult blood test (FOBT) reduce mortality.Aim: To analyze results a model people 50 years.Material and Methods: Between 2007 and2009, prospective multicenter study was performed seven major Chilean cities. FOBT using an immunological method, measured...
// Soledad Urra 1 , Martin C. Fischer José R. Martínez Loreto Véliz 2 Paulina Orellana Antonieta Solar 3 Karen Bohmwald 4 Alexis Kalergis 4, 5 Claudia Riedel 6 Alejandro H. Corvalán 7 Juan Roa Rodrigo Fuentealba 8 Joaquin Cáceres 9 Marcelo López-Lastra Augusto León Nicolás Droppelmann and Hernán E. González 1, Department of Surgical Oncology, Faculty Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile Physiology, Biological Sciences, Pathology, Millennium Institute on...
Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application clinical criteria. To increase rate identification mutations, use molecular studies as Microsatellite Instability (MSI) and Immunohistochemistry (IHC) in tumor has been proposed.To demonstrate usefulness MSI IHC detection mutations LS.From our Familial Colorectal Cancer Registry, families suspected LS were selected according to Amsterdam or Bethesda Screening germline MLH1, MSH2 MSH6 genes was...
Abstract Background The content of circulating exosomes has been observed to be altered in response changes physiological and pathological conditions, they are detectable different human fluids such as blood. Studies focused on the quantification Aβ tau proteins, molecules contained within exosomes, suggest that related with Alzheimer disease (AD) frontotemporal dementia (FTD) development, demonstrated plasma‐derived exosome analysis is a good approach for searching biomarkers development...
Colorectal cancer is a multistep process affecting several signaling pathways including EGFR (epidermal growth factor receptor), therapeutic target for metastatic disease. Our aim was to characterize the mutational and expression profiles of pathway in colorectal tumors integrate these results according five previously defined groups. We screened seven genes mutations ( KRAS-BRAF-PIK3CA-PIK3R1-AKT1-MAP2K1-PTEN) six proteins (EGFR-p110α-p85α-PTEN-phosphoAKT-phosphoMEK1) by...
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim this study was to characterize genotype Chilean PJS patients. Mutation screening 13 patients from eight families performed using single strand conformation polymorphism analysis, DNA...
We report an outbreak of human bartonellosis in Zamora Chinchipe Province Ecuador, which occurred 1995-1996. Nineteen cases were seen, 18 presented with classical oroya fever (fever and profound anaemia) one verruga peruana; 11 the (58%) had positive blood films containing Bartonella bacilliformis. The houses neighbouring controls visited; samples for thin cultures collected from members each house a questionnaire was administered to investigate possible risk factors disease transmission. In...
Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed describe spectrum neoplasms cancer by gender, age gene, survival in 34 Chilean families. Of them, 59% harbored path_MLH1, 23% path_MSH2, 12% path_PMS2 6% path_EPCAM variants. A total 866 individuals at were identified, which 213 (24.6%) developed 308 neoplasms. males, CRC was most common (72.6%), while...
There is limited population-based evidence on the prevalence of cognitive impairment in Mexico, a country with rapidly aging population and where key risk factors, such as diabetes obesity, are common. This study describes distribution adults from Mexico City. cross-sectional included participants City Prospective Study which recruited 150,000 aged ≥ 35 years 1998–2004. In 2015–2019 about 10,000 survivors were resurveyed identical information original survey additional assessments including...
ABSTRACT Importance There is limited population-based evidence on the prevalence of cognitive impairment in Mexico, a country with rapidly aging population and where key risk factors, such as diabetes obesity, are common. Objective To describe distribution sample adults from Mexico City. Design, Setting, Participants This cross-sectional study included participants City Prospective Study which 50,000 men 100,000 women aged ≥35 years two districts 1998-2004. In 2015-2019 about 10,000...
Abstract Background Dementia, encompassing Alzheimer's disease (AD) and frontotemporal dementia (FTD), poses a substantial public health challenge in Latin America. Barriers such as shortage of healthcare professionals, limited medical accessibility, underdiagnosis contribute to the complexity. While biomarkers aligned with ATN framework (Amyloid, Tau, Neurodegeneration) have revolutionized diagnosis, their cost limits adoption Existing research focuses predominantly on North American or...
Abstract Background In Chile, the cases of cognitive impairment and dementia are on rise expected to triple by 2050. Additionally, older adults face life changes that may contribute depression onset. We studied relationship between (CI), functional decline (FD) with risk all‐cause cardiovascular event mortality in Chilean population aged ≥60 years. Method Prospective cohort study based National Health Survey 2009‐2010, a nationally representative prevalence study. Data status were available...
Abstract INTRODUCTION Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. METHODS we performed a GWAS on sporadic Alzheimer’s disease (AD) including 540 patients and 852 controls from Argentina Chile. We explored the variants AD European Dementia Biobank (EADB) tested their genetic risk score (GRS) performance this admixed population. RESULTS detected APOE4 as single genome-wide...
Abstract Background Genome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. Method We performed a GWAS on sporadic Alzheimer’s disease (AD) including 540 patients and 852 controls from Argentina Chile. explored the variants AD European Dementia Biobank (EADB), tested their genetic risk score (GRS) performance this admixed population. Result detected APOE4 as single genome‐wide significant...
Homozygous germline mutation in MUTYH gene familial adenomatous polyposisRecently, mutations have been reported to predispose the development of polyposis.However, polyposis caused by has characterized as an autosomal recessive hereditary disease, different from dominant pattern observed APC mutations.We report a 41-year-old female consulting for anemia.Colonoscopy detected multiple sessile polyps and cecal carcinoma.The patient was operated surgical piece, tumor invaded serosa there lymph...