CALDERON GIADROSIC, JUAN FRANCISCO

Preferred name

Main Affiliation

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

juancalderon@udd.cl

ORCID

0000-0003-2072-704X

Scopus Author ID

57190044311

Goggle Scholar

https://scholar.google.com/citations?user=8hSvpaIAAAAJ&hl=es&oi=ao

Now showing 1 - 10 of 24

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Dataset - Genomic modifiers of neurological resilience in a Niemann-Pick C family
(United States National Library of Medicine, 2025)
MACARENA ANDREA LAS HERAS PARRAGUEZ
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BENJAMIN SZENFELD
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Olguín Araneda Valeria Alejandra
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JUAN CARLOS RUBILAR ESPINOZA
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CALDERON GIADROSIC, JUAN FRANCISCO
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Dataset - Dynamics of the MRSA Population in a Chilean Hospital: a Phylogenomic Analysis (2000-2016)
(2023)
MARTINEZ SOLIS, JOSE RODRIGO WALDEMAR
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SPENCER SANDINO, MARÍA DE LOS ÁNGELES
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RIVAS JIMENEZ, LINA MARIA
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DIAZ ORTIZ, SANDRA
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QUESILLE VILLALOBOS, ANA MARIA
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Genetics of spontaneous cervical and coronary artery dissections
(2023)
Isabel Rada
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CALDERON GIADROSIC, JUAN FRANCISCO
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Gonzalo Martínez
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MUÑOZ VENTURELLI, PAULA ANDREA
<jats:sec><jats:title>Objectives</jats:title><jats:p>Spontaneous cervical artery dissections (SCeAD) and coronary artery dissections (SCoAD) are major causes of neurovascular and cardiovascular morbidity in young adults. Although multiple aspects of their etiology are still unknown, most consensuses are focused on the presence of constitutional genetic aspects and environmental triggers. Since recent evidence of genetic contribution points to a possible overlap between these conditions, we aimed to describe current information on SCeAD and SCoAD genetics and their potential shared pathological aspects.</jats:p></jats:sec><jats:sec><jats:title>Materials and methods</jats:title><jats:p>A narrative review is presented. Publications in English and Spanish were queried using database search. The articles were evaluated by one team member in terms of inclusion criteria. After collecting, the articles were categorized based on scientific content.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Given that patients with SCeAD and SCoAD rarely present connective tissue disorders, other genetic loci are probably responsible for the increased susceptibility in some individuals. The common variant rs9349379 at <jats:italic>PHACTR1</jats:italic> gene is associated with predisposition to pathologies of the arterial wall, likely mediated by variations in Endothelin-1 (ET-1) levels. The risk of arterial dissection may be increased for those who carry the rs9349379(A) allele, associated with lower expression levels of ET-1; however, the local effect of this vasomotor imbalance remains unclear. Sex differences seen in SCeAD and SCoAD support a role for sex hormones that could modulate risk, tilting the delicate balance and forcing vasodilator actions to prevail over vasoconstriction due to a reduction in ET-1 expression.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>New evidence points to a common gene variation that could explain dissection in both the cervical and coronary vasculatures. To further confirm the risk conferred by the rs9349379 variant, genome wide association studies are warranted, hopefully in larger and ethnically diverse populations.</jats:p></jats:sec>
14Scopus© Citations 4
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Dataset - ICTD-Seq: Exome sequencing of patients with Inheritable Connective Tissue Disorders
(National Library of Medicine, 2022)
YANIRETH JIMENEZ
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OSCAR CUEVAS HERREROS
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REPETTO LISBOA, MARIA GABRIELA
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MARCELO ALEXIS ROJAS HERRERA
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CALDERON GIADROSIC, JUAN FRANCISCO
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Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice
(American Society for Clinical Investigation, 2025-01-21)
Caitlin J. Bowen
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Rebecca Sorber
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CALDERON GIADROSIC, JUAN FRANCISCO
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Jefferson J. Doyle
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Graham Rykiel
Scopus© Citations 1 2
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Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome
(2020)
David Goltzman
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CALDERON GIADROSIC, JUAN FRANCISCO
Scopus© Citations 66 1
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A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
(2023)
Anyelo Durán
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David A. Priestman
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Macarena Las Las Heras
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Boris Rebolledo-Jaramillo
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Valeria Olguín
<jats:p>Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we used a systems genetics approach: we measured 11 hepatic lysosomal enzymes and many of their natural substrates (GSLs), followed by modifier gene mapping by GWAS and transcriptomics associations in a panel of inbred strains. Unexpectedly, most GSLs showed no association between their levels and the enzyme activity that catabolizes them. Genomic mapping identified 30 shared predicted modifier genes between the enzymes and GSLs, which are clustered in three pathways and are associated with other diseases. Surprisingly, they are regulated by ten common transcription factors, and their majority by miRNA-340p. In conclusion, we have identified novel regulators of GSL metabolism, which may serve as therapeutic targets for LSDs and may suggest the involvement of GSL metabolism in other pathologies.</jats:p>
1
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Rare diseases in Chile: challenges and recommendations in universal health coverage context
(2019)
Gonzalo Encina
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CASTILLO LABORDE, CARLA CECILIA
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LECAROS URZUA, JUAN ALBERTO
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Karen Dubois-Camacho
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CALDERON GIADROSIC, JUAN FRANCISCO
<jats:title>Abstract</jats:title><jats:p>Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients and societies, and are a significant problem for healthcare systems, especially for countries with limited resources. In Chile, financial protection exists for 20 known RDs through different programs that cover diagnosis and treatments. Although beneficial for a number of conditions, most RD patients are left without a proper legal structure that guarantees a financial coverage, and in a vulnerable situation. In this review, we present and analyze the main challenges of the Chilean healthcare system and legislation on RDs, and other ambits of the RD ecosystem, including patient advocacy groups and research. Finally, we propose a set of policy recommendations that includes creating a patient registry, eliciting social preferences on health and financial coverage, improving access to clinical genetic services and therapies, promoting research on RDs and establishing a Latin-American cooperation network, all aimed at promoting equitable quality healthcare access for people living with RDs.</jats:p>
Scopus© Citations 32 7
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Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency
(2015)
Pablo Antonio Ysunza
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REPETTO LISBOA, MARIA GABRIELA
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Maria Carmen Pamplona
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CALDERON GIADROSIC, JUAN FRANCISCO
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Kenneth Shaheen
<jats:p><jats:italic>Background</jats:italic>. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI).<jats:italic>Objective</jats:italic>. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate.<jats:italic>Materials and Methods</jats:italic>. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy.<jats:italic>Results</jats:italic>. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented.<jats:italic>Conclusion</jats:italic>. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management.</jats:p>
8Scopus© Citations 42
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NPC1 as a Modulator of Disease Severity and Viral Entry of SARSCoV- 2
(2021)
VIAL COX, MARIA CECILIA
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CALDERON GIADROSIC, JUAN FRANCISCO
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KLEIN POSTERNACK, ANDRES DAVID
<jats:sec> <jats:title /> <jats:p>The COVID-19 plague is hitting mankind. Several viruses, including SARS-CoV-1, MERS-CoV, EBOV, and SARS-CoV-2, use the endocytic machinery to enter the cell. Genomic variants in NPC1, which encodes for the endo-lysosomal Niemann-Pick type C1 protein, restricts the host-range of viruses in bats and susceptibility to infections in humans. Lack of NPC1 and its pharmacological suppression inhibits many viral infections including SARS-CoV-1 and Type I Feline Coronavirus Infection. Antiviral effects of NPC1-inhibiting drugs for COVID-19 treatment should be explored.</jats:p> </jats:sec>
Scopus© Citations 10 2

CALDERON GIADROSIC, JUAN FRANCISCO

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