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  • 1
    Electronic Resource
    Electronic Resource
    Refined localization of a punctate palmoplantar keratoderma gene to a 5·06-cM region at 15q22.2–15q22.31 (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    Details
    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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06488.x
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  • 2
    Electronic Resource
    Electronic Resource
    Mechanical strain enhances proteoglycan message in fibroblasts from asthmatic subjects (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical & experimental allergy 34 (2004), S. 0 
    Details
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Remodelling of the asthmatic airway includes increased deposition of proteoglycan (PG) molecules. One of the stimuli driving airway remodelling may be excessive mechanical stimulation.Objective We hypothesized that fibroblasts from asthmatic patients would respond to excessive mechanical strain with up-regulation of message for PGs.Methods We obtained fibroblasts from asthmatic patients (AF) and normal volunteers (NF) using endobronchial biopsy. Cells were maintained in culture until the fifth passage and then grown on a flexible collagen-coated membrane. Using the Flexercell device, cells were then subjected to cyclic stretch at 30% amplitude at 1 Hz for 24 h. Control cells were unstrained. Total RNA was extracted from the cell layer and quantitative RT-PCR performed for decorin, lumican and versican mRNA.Results In unstrained cells, the expression of decorin mRNA was greater in AF than NF. With strain, NF showed increased expression of versican mRNA and AF showed increased expression of versican and decorin mRNA. The relative increase in versican mRNA expression with strain was greater in AF than NF.Conclusions These data support the hypothesis that proteoglycan message is increased in asthmatic fibroblasts subject to mechanical strain. This finding has implications for the mechanisms governing airway wall remodelling in asthma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2222.2004.01980.x
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  • 3
    Electronic Resource
    Electronic Resource
    A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01548.x
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  • 4
    Electronic Resource
    Electronic Resource
    Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01570.x
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  • 5
    Electronic Resource
    Electronic Resource
    A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated.Objectives  To determine the locus of DSAP and identify the candidate gene(s) of the disease.Methods  Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations.Results  Linkage analysis showed that the maximum two-point lod score of 5·56 was obtained with the marker D12S79 at a recombination fraction θ of 0·00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1–24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family.Conclusion  SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06443.x
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  • 6
    Electronic Resource
    Electronic Resource
    Refined localization of dyschromatosis symmetrica hereditaria gene to a 9·4-cM region at 1q21–22 and a literature review of 136 cases reported in China (2004)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 150 (2004), S. 0 
    Details
    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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.0007-0963.2004.05861.x
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  • 7
    Electronic Resource
    Electronic Resource
    Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1·1-cM interval at 8p21.3 (2004)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 150 (2004), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.Objectives  To refine the MUHH locus to a narrow chromosome region to facilitate cloning of the gene.Methods  We performed genotyping and linkage analysis in a multigeneration Chinese family with MUHH, using 18 high-density microsatellite markers spanning the previously mapped interval at 8p21.Results  Significant evidence for linkage was observed in this region, with a maximum two-point LOD score of 3·01 (θ = 0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. This region overlaps by 1·1-cM with the previously reported MUHH region and represents a physical distance of about 380 kb.Conclusions  This study provides a refined map location (1·1 cM) for isolation of the gene causing MUHH. These data also indicate the existence of a common MUHH locus at 8p21.3 between affected caucasian and Chinese families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2004.05913.x
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  • 8
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    Hyponatremia and Worsening Sodium Levels Are Associated With Long-Term Outcome in Patients Hospitalized for Acute Heart Failure [Heart Failure] (2016)
    American Heart Association (AHA)
    Details
    Publication Date: 2016-04-02
    Description: Background Hyponatremia predicts poor prognosis in patients with acute heart failure (AHF). However, the association of the severity of hyponatremia and changes of serum sodium levels with long-term outcome has not been delineated. Methods and Results The study population was drawn from the HARVEST registry ( H eart F a ilure R egistry of Taipei Ve teran s General Hospi t al), so that patients hospitalized for acute heart failure (AHF) composed this study. The National Death Registry was linked to identify the clinical outcomes of all-cause mortality and cardiovascular death, with a follow-up duration of up to 4 years. Among a total of 2556 patients (76.4 years of age, 67% men), 360 had on-admission hyponatremia, defined as a serum sodium level of 〈135 mEq/L on the first day of hospitalization. On-admission hyponatremia was a predictor for all-cause mortality (hazard ratio and 95% CI: 1.43, 1.11–1.83) and cardiovascular mortality (1.50, 1.04–2.17), independent of age, sex, hematocrit, estimated glomerular filtration rate, left ventricular ejection fraction, and prescribed medications. Subjects with severe hyponatremia (〈125 mEq/L) would even have worse clinical outcomes. During hospitalization, a drop of sodium levels of 〉3 mEq/L was associated with a marked increase of mortality than those with minimal or no drop of sodium levels. In addition, subjects with on-admission hyponatremia and drops of serum sodium levels during hospitalization had an incremental risk of death (2.26, 1.36–3.74), relative to those with normonatremia at admission and no treatment-related drop of serum sodium level in the fully adjusted model. Conclusions On-admission hyponatremia is an independent predictor for long-term outcomes in patients hospitalized for AHF. Combined the on-admission hyponatremia with drops of serum sodium levels during hospitalization may make a better risk assessment in AHF patients.
    Keywords: Biomarkers, Heart Failure
    Electronic ISSN: 2047-9980
    Topics: Medicine
    Published by American Heart Association (AHA)
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  • 9
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    CD36 and Na/K-ATPase-{alpha}1 Form a Proinflammatory Signaling Loop in Kidney [Original Articles] (2012)
    American Heart Association (AHA)
    Details
    Publication Date: 2012-12-13
    Description: Proatherogenic, hyperlipidemic states demonstrate increases in circulating ligands for scavenger receptor CD36 (eg, oxidized low-density lipoprotein [oxLDL]) and the Na/K-ATPase (eg, cardiotonic steroids). These factors increase inflammation, oxidative stress, and progression of chronic kidney disease. We hypothesized that diet-induced obesity and hyperlipidemia potentiate a CD36/Na/K-ATPase–dependent inflammatory paracrine loop between proximal tubule cells (PTCs) and their associated macrophages and thereby facilitate development of chronic inflammation and tubulointerstitial fibrosis. ApoE –/– and apoE –/– /cd36 –/– mice were fed a high-fat diet for ≤32 weeks and examined for physiologic and histologic changes in renal function. Compared with apoE –/– , apoE –/– /cd36 –/– mice had improved creatinine clearance and blood pressure which corresponded histologically with less glomerular and tubulointerstitial macrophage accumulation, foam cell formation, oxidant stress, and interstitial fibrosis. Coimmunopreciptation and a cell surface fluorescence-based crosslinking assay showed that CD36 and Na/K-ATPase α-1 colocalized in PTCs and macrophages, and this association was increased by oxLDL or the cardiotonic steroid ouabain. OxLDL and ouabain also increased activation of Src and Lyn in PTCs. Cell-free conditioned medium from PTCs treated with oxLDL or ouabain increased macrophage migration. OxLDL, ouabain, or plasma isolated from high-fat diet–fed mice stimulated reactive oxygen species production in PTCs, which was inhibited by N -acetyl-cysteine, apocynin, or Na/K-ATPase α-1 knockdown. These data suggest that ligands generated in hyperlipidemic states activate CD36 and the Na/K-ATPase and potentiate an inflammatory signaling loop involving PTCs and their associated macrophages, which facilitates the development of chronic inflammation, oxidant stress, and fibrosis underlying the renal dysfunction common to proatherogenic, hyperlipidemic states.
    Keywords: Lipids, Obesity, Mechanism of atherosclerosis/growth factors, Other Vascular biology
    Print ISSN: 0194-911X
    Topics: Medicine
    Published by American Heart Association (AHA)
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  • 10
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    Comparison of Ischemic Stroke Outcomes and Patient and Hospital Characteristics by Race/Ethnicity and Socioeconomic Status [Original Contributions] (2013)
    American Heart Association (AHA)
    In: Stroke
    Details
    Publication Date: 2013-01-19
    Description: Background and Purpose— Current literature provides mixed evidence on disparities by race/ethnicity and socioeconomic status in discharge outcomes after hospitalization for acute ischemic stroke. Using comprehensive data from 8 states, we sought to compare inpatient mortality and length of stay by race/ethnicity and socioeconomic status. Methods— We examined all 2007 hospitalizations for acute ischemic stroke in all nonfederal acute care hospitals in Arizona, California, Florida, Maine, New Jersey, New York, Pennsylvania, and Texas. Population was stratified by race/ethnicity (non-Hispanic whites, non-Hispanic blacks, and Hispanics) and socioeconomic status, measured by median income of patient zip code. For each stratum, we estimated risk-adjusted rates of inpatient mortality and longer length of stay (greater than median length of stay). We also compared the hospitals where these subpopulations received care. Results— Hispanic and black patients accounted for 14% and 12% of all ischemic stroke admissions (N=147 780), respectively, and had lower crude inpatient mortality rates (Hispanic=4.5%, blacks=4.4%; all P 〈0.001) compared with white patients (5.8%). Hispanic and black patients were younger and fewer had any form of atrial fibrillation. Adjusted for patient risk, inpatient mortality was similar by race/ethnicity, but was significantly higher for low-income area patients than that for high-income area patients (odds ratio, 1.08; 95% confidence interval, 1.02–1.15). Risk-adjusted rates of longer length of stay were higher among minority and low-income area populations. Conclusions— Risk-adjusted inpatient mortality was similar among patients by race/ethnicity but higher among patients from lower income areas. However, this pattern was not evident in sensitivity analyses, including the use of mechanical ventilation as a partial surrogate for stroke severity.
    Keywords: Health policy and outcome research, Acute Cerebral Infarction, Epidemiology
    Print ISSN: 0039-2499
    Electronic ISSN: 1524-4628
    Topics: Medicine
    Published by American Heart Association (AHA)
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