Silver syndrome: An infant with necropsy findings

Imaizumi, Kiyoshi; Ogino, Tetsuro; Kajii, Tadashi

doi:10.1007/bf01876605

Cited by 2 publications

(2 citation statements)

References 3 publications

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“…Our infant with CPM for del(2)(p16) is added to the list of CPM for partial monosomy that may cause IUGR. Patient 6 had RSS without UPD died at age 12 months, as did four reported cases of RSS in infancy [Imaizumi et al, 1983;Donnai et al, 1989]. The clinical severity of RSS might depend on the presence of a cell line of UPD7, though previous study suggested indistinguishable phenotypes between RSS patients with and without UPD7 [Bernard et al, 1999].…”

Section: Discussionmentioning

confidence: 87%

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Miura

Yoshiura

Miura

et al. 2006

American J of Med Genetics Pt A

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The purpose of this study was to know a role of confined placental mosaicism (CPM) in perinatal outcome and postnatal growth and development of infants with intrauterine growth restriction (IUGR). We selected 50 infants with IUGR (<-2.0 SD) from 3,257 deliveries in a regional medical center during the past 10-year period, and carried out cytogenetic and molecular analyses in their placenta and cord blood. Of the 50 infants, 8 had CPM (CPM group) and were composed of five single (CPM2, 7, 13, 22, and 22), one double (CPM7/13), and one quadruple trisomy (CPM2/7/15/20), and one partial monosomy [del(2)(p16)]. The origin of an extra chromosome of trisomy was maternal in six cases of CPM, paternal in one, and undetermined in one. Uniparental disomy in disomic cell lines was ruled out in all these mosaics. We also compared clinical parameters for perinatal outcome between CPM group and infants without evidence of CPM (non-CPM group), such as maternal and gestational age, birth weight, Apgar score, cord blood pH, gender, and uterine artery patterns by Doppler ultrasonography, as well as weight, height, and developmental quotient (DQ) by Denver Developmental Screening Test at age 12 months. Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had Russell-Silver syndrome (RSS), and one without CPM had polydactyly, and two without CPM had RSS. All but one infant with CPM are alive at age 12 months. Among the clinical parameters, the detection rate of a notch waveform pattern of the uterine artery was significantly higher in the CPM group (P < 0.05). However, no significant difference was noted in perinatal outcome of pregnancy and in DQ at age 12 months between the two groups. Interestingly, short stature (<-2 SD) at age 12 months was more frequently seen in CPM group (7/8 infants with CPM vs. 8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM.

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Section: Discussionmentioning

confidence: 87%

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Miura

Yoshiura

Miura

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Our infant with CPM for del(2)(p16) is added to the list of CPM for partial monosomy that may cause IUGR. Patient 6 had RSS without UPD died at age 12 months, as did four reported cases of RSS in infancy [Imaizumi et al, 1983; Donnai et al, 1989]. The clinical severity of RSS might depend on the presence of a cell line of UPD7, though previous study suggested indistinguishable phenotypes between RSS patients with and without UPD7 [Bernard et al, 1999].…”

Section: Discussionmentioning

confidence: 89%

Effect of molecular mobility of polymeric implants on soft tissue reactions: An in vivo study in rats

Andersson

Suska

Johansson

et al. 2007

J Biomedical Materials Res

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Although numerous different polymers are used as implants or otherwise studied for many other biotechnical applications, there is a lack of basic models that correlate polymer characteristics with foreign body reactions. This study aims at developing one such model by systematically studying surface molecular mobility of polymeric implants in soft tissues in vivo. Changing the length of the alkyl side chain of poly(alkyl methacrylates) (PAMAs), provides an interesting opportunity to study the surface molecular mobility with minimal changes of the hydrophobicity of the surface. Thus, in this study three different PAMAs, with increasingly surface mobility; poly (isobutyl methacrylate) (PIBMA), poly(butyl methacrylate) (PBMA), and poly(lauryl methacralate) (PLMA) along with pure titanium (Ti) substrates were implanted in the dorsum of Sprague-Dawley rats. Inflammatory cell recruitment, cell adhesion, and cytokine release were studied after 1, 3, and 28 days of implantation. Total number of inflammatory cells in the exudate was measured but no correlation between surface mobility and cell recruitment where found. However, the number of surface associated cells where significantly lower on the surfaces with high molecular mobility (PLMA and PBMA). The histological evaluation performed after 28 days revealed thicker fibrous capsule and a higher number of blood vessels on the low molecular mobility surface (PIBMA). After 28 days the cell activity was higher on the high molecular mobility surfaces (PLMA and PBMA) compared with PIBMA, based on the cytokine release. None of the surfaces induced any significant cell-death. On the basis of the results of this study we conclude that there is a significant difference in biological response to surfaces with different in molecular mobility. This might affect the wound healing process and the biocompatibility of biomaterials.

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Silver syndrome: An infant with necropsy findings

Cited by 2 publications

References 3 publications

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Effect of molecular mobility of polymeric implants on soft tissue reactions: An in vivo study in rats

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