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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  83. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie; 20120516-20120520; Mainz; DOC12hnod546 /20120404/
    Publication Date: 2012-04-05
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 2
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13–8q24.21 and 15q22–15q24. However, no genes for this disease have been identified to date.Objectives  To refine the previously mapped regions and to identify the disease gene locus in a four-generation Chinese family with punctate PPK.Methods  Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two-point linkage analysis was performed using Linkage programs version 5·10 and the haplotype was constructed using Cyrillic version 2·02 software.Results  We failed to confirm our previous locus at 8q24.13–8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two-point LOD score of 5·38 at D15S153 (θ = 0·00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5·06 cM with the previously reported punctate PPK region.Conclusions  This study refines a disease gene causing punctate PPK to a 5·06-cM interval at 15q22.2–15q22.31.
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  • 3
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease with genetic predisposition and an environmental trigger. There are few clinical data in Asians.Objectives  To describe the genetic epidemiological features of AA patients in China and to determine the possible genetic model for AA.Methods  Data for 1032 patients with AA were obtained by questionnaire in the Institute of Dermatology of Anhui Medical University in China from 2001 to 2003. Complex segregation analysis and heritability analysis were performed using Falconer's method, EPI INFO 6·0 and SAGE-REGTL programs.Results  In total, 1032 AA patients (male/female ratio 1·1 : 1) were enrolled, representing 0·94% of the total number of cases seen in our outpatient clinic during that time. The mean ± SD age of onset was 28·98 ± 13·43 years. The difference between the mean age of onset in males and females was not significant. Most patients (82·6%) experienced their first episode of AA within the first four decades of life. A positive family history of AA was obtained in 87 patients (8·4%). The prevalence of AA in first-, second- and third-degree relatives of the proband with AA was 1·6%, 0·19% and 0·03%, respectively. These figures were higher than those in controls. A greater severity and longer duration of AA were seen in the early onset group than in the late-onset group. The early onset group also had more affected first- and second-degree relatives. The heritability of AA in first-, second- and third-degree relatives was 47·16%, 42·53% and 22·29%, respectively. Based on the REGTL results, the best model was a polygenic additive model for AA.Conclusions  The effect of genetic factors is strong in AA, but environmental factors such as infection and psychological stress may still play an important role. Our findings on the genetics of AA are consistent with a polygenic additive mode of inheritance.
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  • 4
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores < − 2) at θ = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.
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  • 5
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Haplotype associations of the major histocompatibility complex (MHC) with psoriasis vulgaris (PV) have been demonstrated in different racial or ethnic populations. The objective of this study was to demonstrate the different haplotype associations of the MHC in Chinese patients with psoriasis according to the type of onset and their sex. One hundred and thirty-eight patients with PV and 149 normal control subjects without psoriasis were typed for HLA-A, -B, -C, -DQA1, -DQB1 and -DRB1 by using the PCR with sequence-specific primers. The results showed: (i) HLA-A*26 (26.1% vs. 12.1%, Pc < 1 × 10−5), -B*27 (17.03% vs. 1.01%, Pc < 1 × 10−7), -Cw*0602 (15.58% vs. 5.03%, Pc < 1 × 10−2), -DQA1*0104 (19.93% vs. 9.40%, Pc < 1 × 10−3), -DQA1*0201 (22.40% vs. 10.74%, Pc < 1 × 10−3), -DQB1*0303 (18.12% vs. 9.73%, Pc < 1 × 10−7), and -DRB1*0701/02 (26.09% vs. 9.73%, Pc < 1 × 10−7) were significantly increased in PV patients, while HLA-B*57, -DQB1*0201 were slightly increased in PV patients. HLA-Cw*0304 (5.07% vs. 14.43%, Pc < 1 × 10−3), -DQA1*0501 (5.79% vs. 14.09%, Pc < 0.05) were found to be negatively associated with PV, but HLA-A*2 (2.54% vs. 6.38%, Pc < 0.5) was decreased in PV patients without statistical significance. (ii) HLA-A*26-B*27 [P < 0.0001, odds ratio (OR) = 48.38], -A*26-Cw*0602 (P < 0.0001, OR = 11.84), -B*27-Cw*0602 (P < 0.0001, OR = undefined), -DRB1*0701/02-B*27 (P < 0.0001, OR = 22.62), -DRB1*0701/02-DQA1*0104 (P < 0.0002, OR = 3.59), -DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 5.63), -DQA1*0201-DQB1*0303 (P < 0.0002, OR = 7.77), -A*26-B*27-Cw*0602 (P < 0.0004, OR = undefined), -A*26-DRB1*0701/02-DQA1*0201-DQB1*0303 (P < 0.01, OR = undefined) were identified as risk haplotypes for patients with PV in China. (iii) HLA-A*26 -B*27 (P < 0.0001, OR = 58.47), -DQA1*0201-DQB1*0303 (P < 0.0001, OR = 8.62), -DRB1*0701/02 -DQA1*0104 (P < 0.0002, OR = 4.13), -DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 6.68) and -A*26-DRB1*0701-DQA1*0201 -DQB1*0303 (P < 0.006, OR = undefined) were only significantly associated with type I psoriasis compared with controls, while others showed no differences in either type I or type II psoriasis. (iv) These associated haplotypes with PV were not different by sex, except that the frequency of DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 10.14) was higher in male patients with psoriasis. To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.
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  • 7
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11·6-cM interval on chromosome 1q11–21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but most of them are described in Chinese.Objectives  To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China.Methods  We performed genotyping and linkage analysis using polymorphic microsatellite markers at 1q11–22 in two Chinese DSH families, and reviewed all of the DSH cases reported in China since 1980.Results  A cumulative maximum two-point lod score of 3·68 was produced with marker D1S506 at a recombination frequency of θ = 0·00 in these two families. Haplotype analysis refined the DSH locus to a 9·4-cM interval flanked by D1S2343 and D1S2635. The genetic and clinical features of Chinese cases with DSH were summarized. In some Chinese cases, hyperpigmented and hypopigmented macules were scattered on the neck and chest, but among Japanese patients there were no similar skin lesions to be reported on these sites.Conclusions  This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9·4-cM interval at 1q21–22. Likewise, the literature review indicates that DSH is not an uncommon disorder in China and the differences in the distribution of skin lesions could be related to race and environment.
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  • 8
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 117 (2002), S. 3956-3960 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: We investigate the formation dynamics of self-assembled polyelectrolyte multilayers on glass substrates by in situ and ex situ second harmonic generation (SHG) measurements and atomic force microscopy (AFM). The time dependence of the SHG signal during the adsorption process is attributed to a time dependent surface potential of the polyelectrolyte film. The dynamics can be quantitatively understood using a random sequential adsorption (RSA) model for the buildup of a film consisting of polyelectrolyte disks with polydisperse sizes. Differences between wet and dry films are also investigated. © 2002 American Institute of Physics.
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  • 9
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 78 (2001), S. 2067-2069 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: A multicolor infrared photodetector based on the epitaxial integration of an n-type with a p-type GaAs/AlGaAs quantum-well stack is experimentally demonstrated. Additionally, a quantum-well GaAs light-emitting diode is inserted between the stacks to achieve up-conversion of mid-infrared radiation to near-infrared signal. This device shows a remarkable selectivity on wavelength: depending on the bias voltage the peak wavelength detection can be switched on and off between 9.1 and 4.85 μm. © 2001 American Institute of Physics.
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  • 10
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 73 (1998), S. 2311-2312 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Void-like defects of octahedron structure having {111} facets were observed in annealed Czochralski silicon. The amorphous coverage of SiOx and SiCx on the inner surface of the defects was identified using transmission electron microscopy and electron energy-loss spectroscopy. It is suggested that these defects are a kind of amorphous precipitate origin. A mechanism for the generation of these defects and the previously reported solid amorphous precipitates is proposed. © 1998 American Institute of Physics.
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