VEGF 936C>T is predictive of threshold retinopathy of prematurity in Japanese infants with a 30-week gestational age or less

Low total IgM values and high cytomegalovirus loads in the blood of newborns with symptomatic congenital cytomegalovirus infection

“…Based on previous reports [24,29] and the assay manufacturer's criteria, the following threshold values were defined as positive: total IgM ≥ 20 mg/dL, CMV-IgM ≥ 0.9 IgM index value (negative 0-0.89, borderline 0.90-1.99, and positive ≥ 2.0), CMV antigenemia ≥ 1 CMV antigen-positive cell per 5 × 10 4 WBCs, CMV-DNA in blood ≥ 1 × 10 2 copies per 10 6 WBCs, and CMV-DNA in urine ≥ 3 × 10 3 copies per mL.…”

Severe retinopathy of prematurity with retinal detachment in monozygotic twins

“…Several studies have identified clinical risk factors for threshold ROP, such as low gestational age, low BW, excessive oxygen use, RCC transfusion, and recombinant erythropoietin treatment . The present case was very unusual because severe ROP with retinal detachment developed in both twins born at >28 weeks of gestation and >1000 g BW.…”

“…To the best of our knowledge, there is no previous report of both infants in an MD twin pair developing severe ROP which progressed to retinal detachment. The twins were treated with oxygen for 2 months because of CLD, which is a risk factor for the development of threshold ROP . But infants born at 29 weeks of gestation do not usually develop severe ROP with retinal detachment, even with 2 months of oxygen.…”

“…We therefore investigated other causes of ROP, and considered the possibility of genetic factors predisposing these MD twins to severe ROP with retinal detachment. Recent studies found that genetic predisposition was closely associated with the development of ROP . Three causative genes ( NDP, FZD4 , and LRP5 ) for familial exudative vitreoretinopathy (FEVR) were also found to be causative for severe ROP .…”

“…No mutations were found except for a few of synonymous polymorphic mutations in the LRP5 gene. VEGF gene polymorphism analysis for ‐1498T>C, ‐1154G>A, ‐634C>G, ‐7C>T, 936C>T, and 1612G>A was performed by direct sequencing, as described previously . 936C>T polymorphism (heterozygous carrier state of the VEGF 936T allele) was found in both twins, which is a risk factor for threshold ROP in Japanese newborn infants …”