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  • 1
    Electronic Resource
    Electronic Resource
    A comparison of cerebral oxygenation as measured by the NIRO 300 and the INVOS 5100 Near-Infrared Spectrophotometers (2002)
    Oxford, UK : Blackwell Science Ltd
    Anaesthesia 57 (2002), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: In this study cerebral oxygenation was measured using the NIRO 300 and the INVOS 5100 spectrophotometers in 10 healthy adult volunteers, exposed to varying degrees of hyperoxia and hypoxia. The results showed similar baseline values for tissue oxygenation index and regional cerebral oxygen saturation with mean (SD) values being 64.9% (5.1) and 62.3% (6.0), respectively. The overall bias was –2.1%, with the INVOS 5100 under-reading cerebral oxygenation compared to the NIRO 300, with limits of agreement of ±14.7%. Both monitors demonstrated similar changes in response to hyperoxia and hypocapnia (coefficient of variance for FIo2 0.45 = 10.0%, FIo2 1.0 = 10.1%, hypocapnia = 14.5%). The reasons for the bias and variability may relate to differences in the methodological approaches of the two monitors. The correlation between the monitors in response to changes in cerebral oxygenation implies that they may be useful as trend monitors in clinical practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2044.2002.02826.x
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  • 2
    Electronic Resource
    Electronic Resource
    Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  We present the clinical, biochemical and genomic findings of a family with congenital factor XIII (FXIII) deficiency. Congenital FXIII deficiency is a very rare autosomal recessive bleeding disorder, characterized by umbilical cord bleeding at birth and spontaneous intracranial haemorrhage. Routine clotting tests are normal, which may delay the diagnosis, leading to an increased chance of severe sequelae. The propositus and her brother, known with haemorrhagic diathesis, were found to be compound heterozygous with a known missense mutation (1050 G → T transversion in exon 7, Val316Phe substitution) and a novel mutation 889 G → A in exon 6, which predicts a Gly262Glu substitution. As these mutations were known in the family, DNA obtained from cord blood of the youngest sister was analysed for mutations in exons 6 and 7 only. We postulate that the diagnosis was facilitated by determining the two different mutations in the genotype of this family. The analysis showed that she was heterozygous for the exon 7 mutation. Hence, she was not at risk of experiencing haemorrhagic diathesis. This diagnosis avoided the administration of FXIII concentrate to the newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01137.x
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  • 3
    Electronic Resource
    Electronic Resource
    The impact of unaware carriership on the clinical presentation of haemophilia (2004)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 10 (2004), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  This study was conducted to evaluate the effect of an unaware carriership on the delay in diagnosis of haemophilia and the resulting effect of this delay on morbidity. Information on 73 haemophilia patients (〈18 years) and their mothers was gathered from data of patients’ medical records and completed by interviews with the parent(s). Although a positive family history was present in 52 gravidae, 16 of them (31%) were not aware of their carrier status at moment of delivery. Fifteen of these 16 unaware carriers, were carriers of a non-severe form of haemophilia. In mothers who were unaware of carriership for haemophilia instrumental delivery occurred more frequently than in mothers who knew they were carriers. This is disquieting since instrumental delivery poses a significant risk (relative risk: 17.8, 95% CI: 4.0–78.4) for intra- or extracranial bleedings in newborn haemophiliacs in comparison to spontaneous deliveries or caesarean sections. In 83% of the patients with a positive family history, diagnosis was established before the first bleeding episode. Patients diagnosed by bleedings presented more often with iatrogenic bleedings (38%) then patients who were diagnosed because of a positive family history (9%) (P 〈 0.05). In comparison to previous studies, more patients had a positive family history and in more haemophiliacs with a positive family history diagnosis was established before the first bleeding episode. Although this reflects the yield of improved diagnostic methods, further reduction of iatrogenic bleeding is possible by intensifying counselling of mild haemophilia carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2004.00955.x
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  • 4
    Electronic Resource
    Electronic Resource
    In vivo recovery and safety of human factor VIII product AAFACT® in patients with haemophilia A (2003)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 9 (2003), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  AAFACT®, a monoclonal purified, solvent/detergent treated human plasma-derived coagulation factor VIII concentrate obtained from plasma of voluntary, non-remunerated blood donors, is manufactured and marketed in the Netherlands by Sanquin Plasma Products since 1995. In a postmarketing surveillance study, 70 previously treated haemophilia A patients were included (73% severe, 14% moderate and 13% mild haemophilia A). Most of these patients were followed during 4 years for the appearance of adverse events, possible transmissions of blood-borne viruses and the occurrence of antibodies against FVIII. The efficacy of treatment was determined in each patient by the in vivo recovery of FVIII. During this study, only six adverse events, possibly related to the use of AAFACT®, were reported. None of these were indicated as serious. Transmissions of HIV, HAV, HBV and HCV in the seronegative patients have not been observed. In none of the patients, inhibitors to FVIII were detected. The in vivo recovery of FVIII during this study was not different from the in vivo recovery observed in eight patients during the preregistration study. There was a correlation of in vivo recovery with age and body weight. From these results, we conclude that the clinical usage of this human plasma-derived FVIII product is efficient and safe.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.2003.00730.x
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  • 5
    Electronic Resource
    Electronic Resource
    Emotional adjustment of children and adolescents with haemophilia in relation to the HIV threat (1997)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 3 (1997), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A Dutch nation-wide study on young haemophilia patients, whose former treatment placed them at risk for HIV infection, was done to examine the effect of HIV testing, HIV status, disclosure of HIV status and the child's experiences with disease-related information on emotional adjustment. In the Netherlands HIV tests are not routinely performed for paediatric haemophilia patients, but the number of HIV-infected children is estimated to be low (8%). Seventy-two boys with haemophilia, five HIV positive, 51 HIV negative and 16 not tested, and their mothers were interviewed and administered standardized questionnaires. Multiple regression analyses showed no differences in anxiety and depression between HIV-positive, HIV-negative or untested boys, nor between children who were informed or not informed about their HIV status. Conversely, children who experienced more difficulties to obtain information about the their disease were significantly more anxious and tended to be more depressed. No significant differences in emotional distress were found between the patients and a standardization sample of healthy peers. The data provide evidence that children and adolescents with haemophilia cope effectively with their disease and the emotional impact of the HIV threat. There seems to be no reason to protect children from testing or knowing their HIV status. In the absence of compelling medical reasons, however, health care workers should not forcefully advocate testing or early disclosure. Distinct disease and treatment-related factors as well as social factors modify disclosure practices.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.1997.00076.x
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  • 6
    Electronic Resource
    Electronic Resource
    HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg593 to Cys mutation (2004)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 10 (2004), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  We evaluated inhibitor formation in a group of patients with mild haemophilia A caused by an Arg593 to Cys mutation. A remarkably high cumulative inhibitor incidence of 14% over 22 years was observed. Three of 49 patients developed transient, low-titre inhibitors, which remained below 2.0 BU mL−1. Four patients with an Arg593 to Cys mutation developed high-titre inhibitors (〉5.0 BU mL−1). Three of these patients have been described previously. In this study, we characterized inhibitory antibodies in a fourth patient with high-titre inhibitors. Epitope mapping studies revealed that antibodies were predominantly directed to the A2 domain of factor VIII. We addressed the role of human leucocyte antigen (HLA) class II alleles in inhibitor development in patients with an Arg593 to Cys mutation by HLA genotyping. In the group of inhibitor patients raised frequencies of HLA-DRB1*01 and HLA-DQB1*05 were observed that did not reached statistical significance. Our data suggest that inhibitor development in mild haemophilia A patients with an Arg593 to Cys mutation is not linked to HLA class II profile.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2004.01011.x
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  • 7
    Electronic Resource
    Electronic Resource
    Effect of bur type and conditioning on the surface and interface of dentine (2005)
    Oxford, UK : Blackwell Science Ltd
    Journal of oral rehabilitation 32 (2005), S. 0 
    Details
    ISSN: 1365-2842
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: summary  The purpose of this in vitro study was to evaluate the surface and resin–dentine interface characteristics of permanent tooth dentine cut with diamond or carbide burs and treated with phosphoric acid (PA) or an acidic conditioner. Labial surfaces of permanent incisors were prepared into dentine with high-speed carbide or diamond burs and divided into two halves. Phosphoric acid 36% was applied on one half and non-rinse conditioner (NRC) was applied on the other half. Ten randomly selected scanning electron microscopy (SEM) fields from each specimen (n = 15) were evaluated. Occlusal surfaces of third molars were divided in two halves for evaluation of the resin–dentine interface. The halves were randomly assigned to one of each conditioner and restored with Prime & Bond NT/Spectrum. Ten specimens were analysed by SEM to evaluate hybrid layer formation and interfacial seal. We observed that surfaces prepared with carbide bur presented less residual smear plugs (P 〈 0·05) than surfaces prepared with diamond burs. Surfaces conditioned with NRC, which is a smear layer modifier, presented more residual smear plugs than surfaces conditioned with PA (P 〈 0·05). Treatment with PA resulted in more sealed interfaces than specimens treated with NRC. Within the limitations of this study the results showed that carbide burs leave a surface that is more conducive to bonding than diamond burs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2842.2005.01507.x
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  • 8
    Electronic Resource
    Electronic Resource
    Paediatric intensive care transfers: 1 (2000)
    Oxford, UK : Blackwell Science Ltd
    Anaesthesia 55 (2000), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2044.2000.01727.x
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  • 9
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    Role of DOT1L in chondrogenesis and osteoarthritis [Genetics] (2012)
    National Academy of Sciences
    Details
    Publication Date: 2012-05-23
    Description: Hip osteoarthritis (HOA) is one of the most disabling and common joint disorders with a large genetic component that is, however, still ill-defined. To date, genome-wide association studies (GWAS) in osteoarthritis (OA) and specifically in HOA have yielded only few loci, which is partly explained by heterogeneity in the OA definition. Therefore, we here focused on radiographically measured joint-space width (JSW), a proxy for cartilage thickness and an important underlying intermediate trait for HOA. In a GWAS of 6,523 individuals on hip-JSW, we identified the G allele of rs12982744 on chromosome 19p13.3 to be associated with a 5% larger JSW (P = 4.8 × 10−10). The association was replicated in 4,442 individuals from three United Kingdom cohorts with an overall meta-analysis P value of 1.1 × 10−11. The SNP was also strongly associated with a 12% reduced risk for HOA (P = 1 × 10−4). The SNP is located in the DOT1L gene, which is an evolutionarily conserved histone methyltransferase, recently identified as a potentially dedicated enzyme for Wnt target-gene activation in leukemia. Immunohistochemical staining of the DOT1L protein in mouse limbs supports a role for DOT1L in chondrogenic differentiation and adult articular cartilage. DOT1L is also expressed in OA articular chondrocytes. Silencing of Dot1l inhibited chondrogenesis in vitro. Dot1l knockdown reduces proteoglycan and collagen content, and mineralization during chondrogenesis. In the ATDC5 chondrogenesis model system, DOT1L interacts with TCF and Wnt signaling. These data are a further step to better understand the role of Wnt-signaling during chondrogenesis and cartilage homeostasis. DOT1L may represent a therapeutic target for OA.
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 10
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    Biogenic membranes of the chloroplast [Cell Biology] (2012)
    National Academy of Sciences
    Details
    Publication Date: 2012-11-21
    Description: The polypeptide subunits of the photosynthetic electron transport complexes in plants and algae are encoded by two genomes. Nuclear genome-encoded subunits are synthesized in the cytoplasm by 80S ribosomes, imported across the chloroplast envelope, and assembled with the subunits that are encoded by the plastid genome. Plastid genome-encoded subunits are...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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