REPETTO LISBOA, MARIA GABRIELA
Thumbnail Image
Preferred name
REPETTO LISBOA, MARIA GABRIELA
Main Affiliation
Email
grepetto@udd.cl
ORCID
Scopus Author ID
57198456305

Research Output

2024 2024 2023 2023 2022 2022 2021 2021 2020 2020 2019 2019 2018 2018 2017 2017 2016 2016 2015 2015 0 0 2 2 4 4 6 6 8 8 10 10 12 12

Filters

1
98
Reset filters

Settings
Now showing 1 - 10 of 98
No Thumbnail Available
Publication

Medicina genómica y de precisión

2019 , REPETTO LISBOA, MARIA GABRIELA

View
No Thumbnail Available
Product

Dataset - Data for Pelgrim et al. (2021) Scientific Reports

2021 , REPETTO LISBOA, MARIA GABRIELA

Dataset for Pelgrim et al. (2021). Functional connectivity (FC) matrices were created by computing Pearson correlation coefficients between the mean time course of 105 regions of interest (ROIs) of the functional MRI images, then converted to normally distributed Z-scores using Fisher's r-to-Z-transformation. - 40 connectivity matrices of 22q11 deletion syndrome patients - 76 connectivity matrices of healthy controls - subject data - names of 105 ROIs

View
No Thumbnail Available
Publication

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

2024 , Víctor Faundes , REPETTO LISBOA, MARIA GABRIELA , Leonardo E. Valdivia

View
No Thumbnail Available
Publication

Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability

2020 , REPETTO LISBOA, MARIA GABRIELA

View
No Thumbnail Available
Publication

Nistagmo secundario a albinismo con compromiso ocular en paciente femenina

2020 , Luisa Schonhaut B. , Joanna Britzmann L. , Mario Zanolli S. , Jovanka Pavlov N. , Trinidad Hasbun Z. , REPETTO LISBOA, MARIA GABRIELA

El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular.Objetivo: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico.Caso Clínico: Paciente femenino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético.Conclusión: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

View
No Thumbnail Available
Publication

Challenges for gene therapy in the financial sustainability of health systems: a scoping review

2024 , Hugo Ossandon , Nicolás Armijo , Constanza Vargas , REPETTO LISBOA, MARIA GABRIELA , Manuel Antonio Espinoza

Abstract Aim To review the available evidence about the strategies implemented or proposed for coverage or reimbursement for currently approved gene therapies. Methods A scoping review was conducted to analyze the evidence published during the years 2016 to 2023. The main search criteria were coverage or reimbursement of gene therapy by healthcare systems. The eligible articles were those that described or proposed a financing model used to provide coverage in the various systems around the world. Results The study identified 279 publications, and after removing duplicates and screening for eligibility, 10 were included in the study. The results show that various financing models have been proposed, including subscription-based payment models, outcome-based payment models, and amortization strategies. However, several barriers to implementing these models were identified, such as deficiencies in informatics systems for data collection, changes in laws or regulations, the lack of accessible clinical endpoints and administrative costs. Conclusion This scoping review provides an overview of financing strategies for gene therapies. Gene therapies can cure rare or previously intractable diseases, but their high cost can make access difficult. Publishing experiences with these models can help evaluate their use and gather more evidence for their effectiveness.

View
No Thumbnail Available
Publication

Practical guidelines for managing adults with 22q11.2 deletion syndrome

2015 , Wai Lun Alan Fung , Nancy J. Butcher , Gregory Costain , Danielle M. Andrade , Erik Boot , Eva W.C. Chow , Brian Chung , Cheryl Cytrynbaum , Hanna Faghfoury , Leona Fishman , Sixto García-Miñaúr , Susan George , Anthony E. Lang , REPETTO LISBOA, MARIA GABRIELA , Andrea Shugar , Candice Silversides , Ann Swillen , Therese van Amelsvoort , Donna M. McDonald-McGinn , Anne S. Bassett

View
No Thumbnail Available
Publication

Sleep architecture in 22q11.2 microdeletion syndrome patients: polysomnographic study of prodromal signs of Parkinson's Disease and obstructive sleep apnea

2019 , A. Ocampo-Garcés , M. Diaz , K. Villanueva , T. Córdova , J. Mauro , T. Cáceres , A. Bassi , REPETTO LISBOA, MARIA GABRIELA

View
No Thumbnail Available
Publication

ETESA, Spheres and STS Reply

2016 , REPETTO LISBOA, MARIA GABRIELA

View
No Thumbnail Available
Publication

Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome

2021 , Teuntje A. D. Pelgrim , Matthijs G. Bossong , Analía Cuiza , Luz María Alliende , Carlos Mena , Angeles Tepper , Juan Pablo Ramirez-Mahaluf , Barbara Iruretagoyena , Claudia Ornstein , Rosemarie Fritsch , Juan Pablo Cruz , Cristian Tejos , REPETTO LISBOA, MARIA GABRIELA , Nicolas Crossley

AbstractThe 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.

View