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  1. Article ; Online: Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.

    Gimenez, Lucas G / Gili, Juan A / Elias, Darío E / Sagula, Rubén / Comas, Belén / Santos, María R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Ratowiecki, Julia / Cosentino, Viviana R / Uranga, Rocío / Saleme, César / Negri, Mercedes / Rittler, Mónica / Zapata Barrios, Jorge / Krupitzki, Hugo B / López Camelo, Jorge S

    Pediatric research

    2024  

    Abstract: Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants ...

    Abstract Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants associated with ROP risk and its comorbidities in an Argentinian sample of premature infants.
    Methods: A sample of 437 preterm infants <33 weeks GA, born at a maternity hospital in Tucumán, Argentina, 2005-2010, was analyzed. Environmental factors, perinatal outcomes, and fourteen single nucleotide polymorphisms associated with ROP were evaluated, comparing ROP with non-ROP newborns. A lasso logistic regression was performed to select variables; then, a conditional logistic regression was used to identify ROP maternal and perinatal risk factors adjusting by maternal and gestational ages, respectively.
    Results: ROP maternal risk factors were alcohol intake, periodontal infections, and severe stress. Respiratory distress, sepsis, and intracranial hemorrhage were the ROP perinatal risk factors. Markers rs186085 of EPAS1 and rs427832 of AGTR1 were significantly associated with ROP newborns.
    Conclusion: We identified three maternal and three perinatal risk factors associated with ROP. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP.
    Impact: Genetic and environmental risk factors associated with ROP and its comorbidities are evaluated in a Latin American population. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. Three maternal and three perinatal risk factors associated with ROP were also identified. A matrix of significant relationships among genetic markers and comorbidities is presented. Reported data may help develop more effective preventive measures for ROP in the Latin American region.
    Language English
    Publishing date 2024-02-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-024-03068-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The role of intrauterine magnetic resonance in the management of myelomenigocele.

    Trigubo, Denise / Negri, Mercedes / Salvatico, Rosana Mabel / Leguizamón, Gustavo

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

    2017  Volume 33, Issue 7, Page(s) 1107–1111

    Abstract: Objective: To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele.: Background: Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the ... ...

    Abstract Objective: To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele.
    Background: Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation. Myelomeningocele is the most common type of NTD that is compatible with life, with high survival rates but lifelong physical impairments.
    Conclusion: MRI is an important adjunct to ultrasound in assessing NTD, as it pertains to pre-surgical planning and perinatal management. However, it should not be considered a replacement for ultrasonography, which continues to be the gold standard for fetal anatomic evaluation.
    Language English
    Publishing date 2017-07
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 605988-0
    ISSN 1433-0350 ; 0302-2803 ; 0256-7040
    ISSN (online) 1433-0350
    ISSN 0302-2803 ; 0256-7040
    DOI 10.1007/s00381-017-3418-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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