CALDERON GIADROSIC, JUAN FRANCISCO
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CALDERON GIADROSIC, JUAN FRANCISCO
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juancalderon@udd.cl
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Scopus Author ID
57190044311

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Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease

2018 , CALDERON GIADROSIC, JUAN FRANCISCO , KLEIN POSTERNACK, ANDRES DAVID

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Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome

2019 , Elena Gallo MacFarlane , Sarah J. Parker , Joseph Y. Shin , Shira G. Ziegler , Tyler J. Creamer , Rustam Bagirzadeh , Djahida Bedja , Yichun Chen , CALDERON GIADROSIC, JUAN FRANCISCO , Katherine Weissler , Pamela A. Frischmeyer-Guerrerio , Mark E. Lindsay , Jennifer P. Habashi , Harry C. Dietz

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Regulation of Connexins Expression Levels by MicroRNAs, an Update

2016 , CALDERON GIADROSIC, JUAN FRANCISCO , Mauricio A. Retamal

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Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

2022 , Yanireth Jimenez , Cesar Paulsen , Eduardo Turner , Sebastian Iturra , Oscar Cuevas , Guillermo Lay-son , REPETTO LISBOA, MARIA GABRIELA , Marcelo Rojas , CALDERON GIADROSIC, JUAN FRANCISCO

Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFβ pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.

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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

2009 , CALDERON GIADROSIC, JUAN FRANCISCO , ALONSO R PUGA , M. LUISA GUZMÁN , CARMEN PAZ ASTETE , MARTA ARRIAZA , MARIANA ARACENA , TERESA ARAVENA , PATRICIA SANZ , REPETTO LISBOA, MARIA GABRIELA

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Rare diseases in Chile: challenges and recommendations in universal health coverage context

2019 , Gonzalo Encina , CASTILLO LABORDE, CARLA CECILIA , LECAROS URZUA, JUAN ALBERTO , Karen Dubois-Camacho , CALDERON GIADROSIC, JUAN FRANCISCO , AGUILERA SANHUEZA, XIMENA PAZ , KLEIN POSTERNACK, ANDRES DAVID , REPETTO LISBOA, MARIA GABRIELA

AbstractRare 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.

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Dataset - ICTD-Seq: Exome sequencing of patients with Inheritable Connective Tissue Disorders

2022 , YANIRETH JIMENEZ , OSCAR CUEVAS HERREROS , REPETTO LISBOA, MARIA GABRIELA , MARCELO ALEXIS ROJAS HERRERA , CALDERON GIADROSIC, JUAN FRANCISCO

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Cervical Artery Dissection in Postpartum Women after Cesarean and Vaginal Delivery

2022 , Francisca Urrutia , MAZZON AGURTO, ENRICO , BRUNSER, ALEJANDRO , DIAZ TAPIA, VIOLETA DEL CARMEN , CALDERON GIADROSIC, JUAN FRANCISCO , STECHER GUZMAN, XIMENA PATRICIA , Tomas Bernstein , Paulo Zuñiga , SCHILLING REDLICH, ANDREA INGRID , MUÑOZ VENTURELLI, PAULA

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Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

2015 , Pablo Antonio Ysunza , REPETTO LISBOA, MARIA GABRIELA , Maria Carmen Pamplona , CALDERON GIADROSIC, JUAN FRANCISCO , Kenneth Shaheen , Konkgrit Chaiyasate , Matthew Rontal

Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI).Objective. 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.Materials and Methods. 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.Results. 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.Conclusion. 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.

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Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

2009 , REPETTO LISBOA, MARIA GABRIELA , Guzmán, María Luisa , Puga, Alonso R. , CALDERON GIADROSIC, JUAN FRANCISCO , Astete A., Carmen Paz , Aracena, Mariana I. , Arriaza, Marta I. , Aravena, Teresa , Sanz, Patricia

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