Validation of WINROP for detecting retinopathy of prematurity in a North American cohort of preterm infants

2017 ◽  
Vol 21 (3) ◽  
pp. 229-233 ◽  
Author(s):  
Jennifer L. Jung ◽  
Brandie D. Wagner ◽  
Emily A. McCourt ◽  
Alan G. Palestine ◽  
Ashlee Cerda ◽  
...  
Keyword(s):  
Preterm Infants ◽  
Retinopathy Of Prematurity ◽  
North American ◽  
North American Cohort

scholarly journals Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sang Jin Kim ◽  
◽  
Kemal Sonmez ◽  
Ryan Swan ◽  
J. Peter Campbell ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Preterm Infants ◽  
Premature Infants ◽  
Retinopathy Of Prematurity ◽  
Smooth Endoplasmic Reticulum ◽  
Enrichment Analysis ◽  
Retinal Disease ◽  
Gene Set Enrichment Analysis ◽  
Whole Exome

AbstractRetinopathy of prematurity (ROP) is a vasoproliferative retinal disease affecting premature infants. In addition to prematurity itself and oxygen treatment, genetic factors have been suggested to predispose to ROP. We aimed to identify potentially pathogenic genes and biological pathways associated with ROP by analyzing variants from whole exome sequencing (WES) data of premature infants. As part of a multicenter ROP cohort study, 100 non-Hispanic Caucasian preterm infants enriched in phenotypic extremes were subjected to WES. Gene-based testing was done on coding nonsynonymous variants. Genes showing enrichment of qualifying variants in severe ROP compared to mild or no ROP from gene-based tests with adjustment for gestational age and birth weight were selected for gene set enrichment analysis (GSEA). Mean BW of included infants with pre-plus, type-1 or type 2 ROP including aggressive posterior ROP (n = 58) and mild or no ROP (n = 42) were 744 g and 995 g, respectively. No single genes reached genome-wide significance that could account for a severe phenotype. GSEA identified two significantly associated pathways (smooth endoplasmic reticulum and vitamin C metabolism) after correction for multiple tests. WES of premature infants revealed potential pathways that may be important in the pathogenesis of ROP and in further genetic studies.

scholarly journals Risk Factors Associated with Retinopathy of Prematurity in Very and Extremely Preterm Infants

Medicina ◽  
2021 ◽  
Vol 57 (5) ◽  
pp. 420
Author(s):  
Claudia Ioana Borțea ◽  
Florina Stoica ◽  
Marioara Boia ◽  
Emil Radu Iacob ◽  
Mihai Dinu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Preterm Infants ◽  
Gestational Age ◽  
Retinopathy Of Prematurity ◽  
Univariate Analysis ◽  
Significant Risk ◽  
Extremely Preterm ◽  
Extremely Preterm Infants ◽  
Surfactant Administration ◽  
Stage 1

Background and Objectives: Retinopathy of prematurity (ROP) is the leading cause of blindness in preterm infants. We studied the relationship between different perinatal characteristics, i.e., sex; gestational age (GA); birth weight (BW); C-reactive protein (CRP) and lactate dehydrogenase (LDH) concentrations; ventilation, continuous positive airway pressure (CPAP), and surfactant administration; and the incidence of Stage 1–3 ROP. Materials and Methods: This study included 247 preterm infants with gestational age (GA) < 32 weeks that were successfully screened for ROP. Univariate and multivariate binary analyses were performed to find the most significant risk factors for ROP (Stage 1–3), while multivariate multinomial analysis was used to find the most significant risk factors for specific ROP stages, i.e., Stage 1, 2, and 3. Results: The incidence of ROP (Stage 1–3) was 66.40% (164 infants), while that of Stage 1, 2, and 3 ROP was 15.38% (38 infants), 27.53% (68 infants), and 23.48% (58 infants), respectively. Following univariate analysis, multiple perinatal characteristics, i.e., GA; BW; and ventilation, CPAP, and surfactant administration, were found to be statistically significant risk factors for ROP (p < 0.001). However, in a multivariate model using the same characteristics, only BW and ventilation were significant ROP predictors (p < 0.001 and p < 0.05, respectively). Multivariate multinomial analysis revealed that BW was only significantly correlated with Stage 2 and 3 ROP (p < 0.05 and p < 0.001, respectively), while ventilation was only significantly correlated with Stage 2 ROP (p < 0.05). Conclusions: The results indicate that GA; BW; and the use of ventilation, CPAP, and surfactant were all significant risk factors for ROP (Stage 1–3), but only BW and ventilation were significantly correlated with ROP and specific stages of the disease, namely Stage 2 and 3 ROP and Stage 2 ROP, respectively, in multivariate models.

Assessment of Osteoporosis and Fracture Risk in Mastocytosis within a North American Cohort

2021 ◽  
Author(s):  
Ayelet Makovoz ◽  
Jing Wang ◽  
Gloria Oshegbo ◽  
Young Hwan Park ◽  
Jonathan J. Lyons ◽  
...  
Keyword(s):  
Fracture Risk ◽  
North American ◽  
North American Cohort

Effects of fetal haemoglobin on systemic oxygenation in preterm infants and the development of retinopathy of prematurity PacIFiHER Report No. 2

2021 ◽  
pp. bjophthalmol-2021-319546
Author(s):  
Kim Jiramongkolchai ◽  
Michael X Repka ◽  
Jing Tian ◽  
Sue W Aucott ◽  
Jennifer Shepard ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Preterm Infants ◽  
Retinopathy Of Prematurity ◽  
Neonatal Intensive Care ◽  
Blood Gas ◽  
Dissociation Curve ◽  
Fetal Haemoglobin ◽  
Oxyhaemoglobin Dissociation Curve ◽  
Increased Risk ◽  
Oxygenation Indices

Background/aimsFetal haemoglobin (HbF) has an oxyhaemoglobin dissociation curve that may affect systemic oxygenation and the development of retinopathy of prematurity (ROP). The study aim is to characterise the effects of HbF levels on systemic oxygenation and ROP development.MethodsProspective study conducted from 1 September 2017 through 31 December 2018 at the Johns Hopkins NICU. Preterm infants with HbF measured at birth, 31, 34 and 37 weeks post-menstrual age (PMA), complete blood gas and SpO2 recorded up to 42 weeks PMA, and at least one ROP exam were included.ResultsSixty-four preterm infants were enrolled. Higher HbF was associated with significantly higher SpO2, lower PCO2, lower FiO2 from birth to 31 weeks PMA and 31 to 34 weeks PMA (rs=0.51, rs=−0.62 and rs=−0.63; p<0.0001 and rs=0.71, rs=−0.58 and rs=−0.79; p<0.0001, respectively). To maintain oxygen saturation goals set by the neonatal intensive care unit, higher median FiO2 was required for HbF in the lowest tercile from birth compared with HbF in the highest tercile to 31 weeks and 31 to 34 weeks PMA; FiO2=35 (21–100) versus 21 (21–30) p<0.006 and FiO2=30 (28–100) versus 21 (21–30) p<0.001, respectively. Preterm infants with ROP had poorer indices of systemic oxygenation, as measured by median levels of SpO2 and PCO2, and lower levels of HbF (p<0.039 and p<0.0001, respectively) up to 34 weeks PMA.ConclusionLow HbF levels correlated with poor oxygenation indices and increased risk for ROP. O2 saturation goals to prevent ROP may need to incorporate relative amount of HbF.

scholarly journals Insulin-like growth factor binding protein-3 in preterm infants with retinopathy of prematurity

2012 ◽  
Vol 60 (6) ◽  
pp. 527 ◽  
Author(s):  
ManizhehMostafa Gharehbaghi ◽  
Haleh Mostafidi ◽  
Ali Peirovifar ◽  
Karim Sadeghi
Keyword(s):  
Growth Factor ◽  
Preterm Infants ◽  
Retinopathy Of Prematurity ◽  
Binding Protein ◽  
Insulin Like Growth Factor ◽  
Factor Binding
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