CRIS

Permanent URI for this communityhttps://investigadores.udd.cl/handle/123456789/1

Browse

Search Results

Now showing 1 - 7 of 7

Some of the metrics are blocked by your
consent settings
Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities
(Springer Science and Business Media LLC, 2025-04-03)
Carlos F. Hernández
;
Camilo Villaman
;
Costin Leu
;
Dennis Lal
;
Ignacio Mata
4
Some of the metrics are blocked by your
consent settings
Folate and Vitamin B12 Levels in Chilean Women with PCOS and Their Association with Metabolic Outcomes
(2024)
Matías Carrasco-Cabezas
;
Taís Silveira Assmann
;
Paz Martínez
;
Leslie Cerpa
;
Susan Calfunao
<jats:p>Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age. Many women with PCOS have been found to have an unbalanced diet and deficiencies in essential nutrients. This study aimed to assess the levels of folate and vitamin B12 (B12) and their relationship with metabolic factors in women with PCOS. Anthropometric, clinical, and genetic analyses were conducted to evaluate markers related to one-carbon metabolism in women with PCOS and in a control group. The PCOS group had a higher BMI and HOMA-IR (1.7 vs. 3.1; p < 0.0001). HDL cholesterol levels were 23% lower and triglyceride levels were 74% higher in women with PCOS. Although there were no significant differences in folate and B12 levels between the PCOS and control groups, over 60% of women with PCOS had low B12 levels (<300 pg/mL) and high homocysteine levels. In addition, the MTHFR A1298C and C677T polymorphisms were not associated with PCOS. Moreover, erythrocyte folate levels were positively correlated with fasting glucose, triglycerides, and free androgen index, and negatively correlated with SHBG and LH levels. These results suggest that B vitamins may be associated with the metabolic phenotype in PCOS. This study emphasizes the potential link between folate, vitamin B12, and metabolic and hormonal outcomes in women with PCOS.</jats:p>
Scopus© Citations 1 3
Some of the metrics are blocked by your
consent settings
Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population
(2012)
Lilian Jara
;
Patricio Gonzalez-Hormazabal
;
Kerube Cerceño
;
Gabriella A. Di Capua
;
Jose M. Reyes
1Scopus© Citations 36
Some of the metrics are blocked by your
consent settings
The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population
(2012)
Patricio Gonzalez-Hormazabal
;
Jose M. Reyes
;
Rafael Blanco
;
Teresa Bravo
;
Ignacio Carrera
1Scopus© Citations 25
Some of the metrics are blocked by your
consent settings
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies
(2020)
María I. Rivera-Hechem
;
RODRÍGUEZ SICKERT, CARLOS ANDRÉS
;
GUZMÁN PRICE, RICARDO
;
Tadeo Ramírez-Parada
;
BENAVIDES GONZALEZ, FELIPE ORLANDO
<jats:p>The effort to understand the genetic basis of human sociality has been encouraged by the diversity and heritability of social traits like cooperation. This task has remained elusive largely because most studies of sociality and genetics use sample sizes that are often unable to detect the small effects that single genes may have on complex social behaviors. The lack of robust findings could also be a consequence of a poor characterization of social phenotypes. Here, we explore the latter possibility by testing whether refining measures of cooperative phenotypes can increase the replication of previously reported associations between genetic variants and cooperation in small samples. Unlike most previous studies of sociality and genetics, we characterize cooperative phenotypes based on strategies rather than actions. Measuring strategies help differentiate between similar actions with different underlaying social motivations while controlling for expectations and learning. In an admixed Latino sample (n = 188), we tested whether cooperative strategies were associated with three genetic variants thought to influence sociality in humans—<jats:italic>MAOA</jats:italic>-uVNTR, <jats:italic>OXTR</jats:italic> rs53576, and <jats:italic>AVPR1</jats:italic> RS3. We found no association between cooperative strategies and any of the candidate genetic variants. Since we were unable to replicate previous observations our results suggest that refining measurements of cooperative phenotypes as strategies is not enough to overcome the inherent statistical power problem of candidate gene studies.</jats:p>
9Scopus© Citations 2
Some of the metrics are blocked by your
consent settings
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
(2022)
Kader Cetin Gedik
;
Lovro Lamot
;
Micol Romano
;
Erkan Demirkaya
;
David Piskin
<jats:sec><jats:title>Objective</jats:title><jats:p>Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of ‘points to consider’ to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires and consensus methodology, ‘points to consider’ to guide patient management were developed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI and AGS.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment and management of patients with CANDLE/PRAAS, SAVI and AGS and aim to standardise and improve care, quality of life and disease outcomes.</jats:p></jats:sec>
Scopus© Citations 30 1
Some of the metrics are blocked by your
consent settings
Schizophrenia-derived hiPSC brain microvascular endothelial-like cells show impairments in angiogenesis and blood–brain barrier function
(2022)
Bárbara S. Casas
;
Gabriela Vitória
;
Catalina P. Prieto
;
Mariana Casas
;
Carlos Chacón
1Scopus© Citations 21

CRIS

Browse

Filters

Settings

Sort By

Results per page

Search Results