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  • 1
    Electronic Resource
    Electronic Resource
    Subacute panencephalitis associated with chronic graft-versus-host disease (1993)
    Springer
    Acta neuropathologica 85 (1993), S. 566-572 
    Details
    ISSN: 1432-0533
    Keywords: Graft-versus-host disease ; Encephalitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A unique form of subacute panencephalitis developed in a child with aplastic anemia 8 months after an allogeneic bone marrow transplantation (BMT). It was characterized by parenchymal infiltration of CD3 lymphocytes, a marked increase in the number of microglia strongly expressing HLA-DR antigens in both the gray and white matter, and diffuse degeneration of the cerebral white matter. The onset of neurological symptoms coincided with the development of chronic systemic graft-versus-host disease (GVHD). Cellular infiltrates in the CNS lesions were exclusively CD3 lymphocytes intermingled with a small number of monocytes labeled with CD68. There was a preponderance of cells of the CD45RB phenotype. The pathological changes in visceral organs were consistent with those of chronic GVHD. In addition, scrutiny of immunohistochemistry disclosed sparse infiltration of CD3 lymphocytes and diffuse gliosis in the cerebral white matter of another child with chronic GVHD who died 9 months after allogeneic BMT. These cases are suggestive of a potential risk of CNS involvement in GVHD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00230498
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  • 2
    Electronic Resource
    Electronic Resource
    Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 317-321 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The low-density lipoprotein (LDL) receptor genes from 18 unrelated Japanese heterozygotes and 1 homozygote with classical familial hypercholesterolemia were analyzed by Southern blot hybridization using fragments of the human LDL receptor cDNA as probes. Four different deletion mutations were detected among 20 mutant LDL receptor genes (20%); they were characterized by restriction mapping. None of these mutations has previously been reported in Caucasian patients with FH: three of the mutations were novel and one was similar to the detetion mutation of FH-Tonami described previously in Japanese patients. In three of the four deletion mutations, the rearrangements were related to intron 15 of the LDL receptor gene, in which many Alu sequences exist. The data suggest that a wide range of molecular heterogeneity exists even in major rearrangements resulting in deletions in the LDL receptor gene. The data also support the hypothesis that there are preferential sites within the LDL receptor gene for major rearrangements resulting in deletions. The possibility that a higher frequency of deletion mutations occurs in classical FH than previously suspected is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273989
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  • 3
    Electronic Resource
    Electronic Resource
    Plasminogen with type-I mutation is polymorphic in the Japanese population (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 7-11 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala→ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is present in PLG M5 and polymorphic in the Japanese population. Direct sequencing of the amplified DNA from the PLG gene in a heterozygote for PLG M5 revealed that the sequence of the exon 15 in the gene for PLG M5 is identical with that in the PLG gene with type-I mutation. In addition, the amplified DNA from the PLG gene in 12 heterozyotes for PLG M5 reacted with the probe for the type-I mutation in dot blot hybridization with an allele-specific oligonucleotide probe. The heterozygote for PLG with type-I mutation was found in 2.2% of 360 unrelated healthy subjects. These data indicate that the type-I mutation of PLG is present in PLG M5 and polymorphic in the Japanese population. The data also suggest that the PLG M5 is identical with PLG Tochigi and Kagoshima.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210737
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  • 4
    Electronic Resource
    Electronic Resource
    Frequent occurrence of familial aggregations of high lipoprotein(a) levels associated with small apolipoprotein(a) isoforms (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 545-548 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract School-age children with high lipoprotein(a) [Lp(a)] levels were screened and family studies were conducted to examine the relationship between high Lp(a) levels and apolipoprotein(a) [apo(a)] isoforms in families. All the probands from 17 families had one of the A2 to A12 apo(a) isoforms, which are the smaller apo(a) isoforms of the 25 different isoforms thus far detected. The ratio of subjects with high plasma Lp(a) levels was 0.47 among the first-degree relatives. All 15 relatives with high plasma Lp(a) levels shared one of the small apo(a) isoforms with the proband in each family, while 16 of 17 relatives with normal Lp(a) levels did not. These data indicate the frequent occurrence of familial aggregations of high Lp(a) levels associated with one of the small apo(a) isoforms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420936
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  • 5
    Electronic Resource
    Electronic Resource
    Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 445-449 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To assess the relationship between relatively severe hereditary hypercholesterolemia with Achilles tendon xanthomas and the defect of the low density lipoprotein (LDL) receptor gene, family studies were carried out in 17 hypercholesterolemic families. In 16 out of the 17 families, hypercholesterolemia co-segregated with four different gross rearrangements, six different restriction fragment length polymorphism (RFLP) haplotypes, or an abnormal TaqI band of the LDL receptor gene. These findings are compatible with the interpretation that hypercholesterolemia is caused by defective LDL receptor genes, and that the origin of the mutant LDL receptor genes in Japanese generally differs among different pedigrees. In the remaining family, the proband and his sibling, both having relatively severe hypercholesterolemia and Achilles tendon xanthomas, shared an RFLP haplotype, although the proband's other sibling with moderate hypercholesterolemia but without Achilles tendon xanthomas did not. The mutant gene for familial defective apolipoprotein B-100 was not detected in the 17 probands. These data suggest that most, if not all, of the relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas is caused by a defect of the LDL receptor gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194631
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  • 6
    Electronic Resource
    Electronic Resource
    High degree of genetic polymorphism in apolipoprotein(a) associated with plasma lipoprotein(a) levels in Japanese and Chinese populations (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 537-544 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have developed a sensitve, high-resolution method for the analysis of the apolipoprotein(a) [apo(a)] isoforms using sodium dodecyl sulfate (SDS)-agarose/ gradient polyacrylamide gel electrophoresis. In an analysis of the genetic polymorphism of apo(a) isoforms and their relationship with plasma lipoprotein(a) [Lp(a)] levels in Japanese and Chinese, this method identified 25 different apo(a) isoforms and detected one or two apo(a) isoforms in more than 99.5% of the individuals tested. The apparent molecular weights of the apo(a) isoforms ranged from 370 kDa to 950 kDa, and 22 of the 25 different apo(a) isoforns had a higher molecular weight than of apo B-100. Studies on Japanese families confirmed the autosomal codominant segregation of apo(a) isoforms and the existence of a null allele at the apo(a) locus. The observed frequency distribution of apo(a) isoform phenotypes fit the expectations of the Hardy-Weinberg equilibrium in both the Japanese and Chinese populations. Our data indicate the existence of at least 26 alleles, including a null allele, at the apo(a) locus. The frequency distribution patterns of the apo(a) isoform alleles in Japanese and Chinese were similar to each other and also similar to that of apo(a) gene sizes reported in Caucasian American individuals. The average heterozygosity at the apo(a) locus was 92% in Japanese and 93% in Chinese. A highly significant inverse correlation was observed between plasma Lp(a) levels and the size of apo(a) isoforms in both the Japanese (r=-0.677, P=0.0001) and the Chinese (r=-0.703, P=0.0001). A highly skewed distribution of Lp(a) concentrations towards lower levels in the Japanese population may be explained by high frequencies of alleles encoding large apo(a) isoforms and the null allele.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420935
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  • 7
    Electronic Resource
    Electronic Resource
    Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome (2007)
    [s.l.] : Nature Publishing Group
    Nature 448 (2007), S. 1058-1062 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Hyper-immunoglobulin E syndrome (HIES) is a compound primary immunodeficiency characterized by a highly elevated serum IgE, recurrent staphylococcal skin abscesses and cyst-forming pneumonia, with disproportionately milder inflammatory responses, referred to as cold abscesses, and skeletal ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/nature06096
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  • 8
    Electronic Resource
    Electronic Resource
    Treatment regimen adherence and life-satisfaction in hemodialysis patients: a covariance structure analysis (1999)
    Springer
    Clinical and experimental nephrology 3 (1999), S. 198-206 
    Details
    ISSN: 1437-7799
    Keywords: Key words Adherence ; Life-satisfaction ; Hemodialysis patients ; Covariance structure analysis ; Dietary behavior
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. The purpose of this study was to clarify the causal relationship among factors related to treatment regimen adherence and life-satisfaction in hemodialysis patients by a covariance structure analysis. Methods. Self- administered questionnaires were obtained from 209 patients. The variables were as follows (with η representing endogenous latent variables, ξ, exogenous latent variables; and x, observed variables): treatment regimen adherence (η 1), dietary management behavior (x 1); life-satisfaction (η 2), life-satisfaction in hemodialysis patients (x 2); self-determination (η 3), self-determination factor concerning self-care (x 3) and self-determination factor concerning patient-medical staff relationship (x 4); self-efficacy (η 4), self-efficacy for dietary management (x 5); emotional support from medical staff (ξ 1), emotional support from medical doctors (x 6), and emotional support from nurses (x 7). Results. Treatment regimen adherence was directly influenced by self-efficacy (β = 0.978; P 〈 0.05), and was indirectly influenced by emotional support from medical staff (γ = −0.266; P 〈 0.05) and self-determination (β = 0.101; P 〈 0.05). Life-satisfaction was directly influenced by emotional support from medical staff (γ = 0.412; P 〈 0.05) and self-determination (β = 0.337; P 〈 0.05), and was indirectly influenced by emotional support from medical staff (γ = −0.266; P 〈 0.05). The goodness-of-fit-index of this model was 0.93, and the adjusted goodness-of-fit-index was 0.84. Conclusions. (1) The only patient characteristic which had a significant relation with adherence was age over 65 years, and the characteristics which had a significant relation with life-satisfaction were those of living with family and having an occupation. (2) Good adherence regarding dietary behavior was directly influenced by the level of self-efficacy. Less emotional support from medical staff resulted in greater self-determination, leading to higher self-efficacy, which indirectly induced high adherence. (3) The degree of life-satisfaction was directly influenced by the level of emotional support from medical staff and by the degree of self-determination. Less emotional support from medical staff indirectly enhanced self-determination, leading to higher life-satisfaction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101570050035
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  • 9
    Electronic Resource
    Electronic Resource
    TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The low density lipoprotein (LDL) receptor gene was analyzed in 67 unrelated healthy Japanese and 38 members of six consecutive families with familial hypercholesterolemia (FH) by Southern blot hybridization with TaqI, an LDL receptor cDNA fragment containing exons 1 to 8 being used as a probe. A new TaqI RFLP at the LDL receptor locus was detected with allele frequencies of 0.67 and 0.33. The data obtained with smaller cDNA subfragment probes revealed that the TaqI RFLP site is located within 1.1 kb of the 5′ side of the EcoRI site of exon 5. The TaqI RFLP was in linkage disequilibrium with the PstI RFLP but showed no significant linkage disequilibrium with the RFLPs for AvaII, ApaLI/I15, PvuII, NcoI, and ApaLI/3′. Among the seven RFLPs at the LDL receptor locus, the TaqI RFLP was the only useful genetic marker in one of the six families with FH. Furthermore, the association of an additional TaqI 1.5-kb band with a mutant LDL receptor gene was observed in another family with FH in which the proband was homozygous for all of the seven RFLPs. The data obtained with various restriction enzymes and smaller cDNA subfragments probes suggested that a minor change in nucleotide sequences in the region including exons 5 to 8 is present in the mutant gene. These data suggest that the TaqI RFLP is a useful genetic marker at the LDL receptor locus and that TaqI serves for the analysis of some mutant LDL receptor genes, when used with small LDL receptor cDNA probes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451446
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  • 10
    Electronic Resource
    Electronic Resource
    Epstein–Barr virus transforms precursor B cells even before immunoglobulin gene rearrangements (1984)
    [s.l.] : Nature Publishing Group
    Nature 309 (1984), S. 369-372 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] EBV was obtained from the culture fluid of the B95-8 marmoset cell line7. The fetal liver was obtained from an embryo artificially aborted at the 16th week of gestation. Mononuclear cells separated by Ficoll-Conray gradient centrifugation were infected with EBV at a multiplicity of infectivity of ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/309369a0
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