Browsing by Author "Fleckenstein, B."

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    Dynamics of the immune system response in cerebrospinal fluid and blood of SIVmac-infected rhesus monkeys
    (1993)
    Sopper, S.
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    Hemm, S.
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    Meixensberger, J.
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    Coulibaly, C.
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    Stahl-Hennig, C.
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    Hunsmann, G.
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    Fleckenstein, B.
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    ter Meulen, V.
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    Dörries, R.
    Paired sera and CSF samples were collected from SIVmac-infected macaques. Animals infected with SIVmac251 maintained low gag and high env-specific antibody levels in plasma. Increasing env-specific antibody titers in CSF were associated in one animal with strong intrathecal synthesis. SIVmac239-infected monkeys revealed high antibody titers of gag and env-specificity, in one animal accompanied by weak intrathecal synthesis of virus-specific antibodies. In all animals, the CD4/CD8 ratio in CSF decreased faster compared to blood.
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    First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter -> q22.1 :: q22.1 -> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q-syndrome
    (2004)
    Meins, M.
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    Bohm, D.
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    Grossmann, A.
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    Herting, E.
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    Fleckenstein, B.
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    Fauth, C.
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    Speicher, M. R.
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    Schindler, R.
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    Zoll, Barbara  
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    Bartels, I.
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    Burfeind, Peter  
    Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an iso-pseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 pter)). The iso-pseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodi-centric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detect-ed in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child. (C) 2003 Wiley-Liss, Inc.