11 research outputs found

    Immunohistochemical Detection of Respiratory Syncytial Virus Infection in the Lung of Child Autopsy Cases

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    Viral infection in the respiratory tract is suspected in some cases of infant death; however, in most of those cases, routine postmortem examination has been unable to determine a definitive etiology. Using immunohistochemistry with a specific antibody to respiratory syncytial virus (RSV) in paraffin sections, we investigated a possible association of RSV infection with interstitial pneumonia or bronchitis in four child autopsy cases while two adult cases with cytomegalic inclusion disease, pneumocystis carinii pneumonia, or acute interstitial pneumonia were also included as negative control. Immunoreactivity for RSV was detected in one of the 4 child cases; the bronchial and bronchiolar epithelium were immunostained. No immunoreactivity was observed in the two adult cases. Retrospective microscopic examination in routinely stained slides could find no distinctive findings indicating RSV infection in this case as well as the other three cases. Although further evidence, e.g., detection of the viral nucleic acid in specimens, may be needed, the present results suggest that this antibody can be utilized for detection of RSV infection in autopsy samples

    KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

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    Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes

    Thrombomodulin Levels in Umbilical Cord Blood-derived Plasma between Light-for-Date and Appropriate-for-Date Infants

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    Thrombomodulin, a thrombin receptor on the surface of endothelial cells, plays an important role not only in maintaining normal hemostatic balance but also in in utero development. Plasma thrombomodulin has been used in the clinical setting as a marker of endothelial damage in adults; however, the clinical values for neonates have not yet been determined. Intrauterine growth restriction has deleterious effects on mortality and morbidity in both term and preterm infants. The purpose of the present study was to examine whether or not the association between thrombomodulin and gestational age differed between appropriate-for-date (AFD) and light-for-date (LFD) infants. We measured the thrombomodulin levels in the umbilical cord bloodderived plasma of 388 neonates divided into LFD and AFD infants and analyzed their association with gestational age, birth weight, umbilical cord blood pH, and Apgar scores. The plasma thrombomodulin levels were higher in neonates than in adults. There was an inverse correlation between the gestational age and thrombomodulin levels in AFD infants; however, LFD infants presented high plasma thrombomodulin levels throughout the gestational ages examined. While plasma thrombomodulin levels correlated with gestational age and differed between LFD and AFD infants, no clear correlations were seen with Apgar scores, birth weight, cord blood pH or base excess in a multivariate analysis. While such high plasma thrombomodulin levels in preterm infants may reflect their normal physiological background, the difference between the AFD and LFD infants may be caused by pathological processes other than asphyxiation events in LFD infants

    Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

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