bluuebunny/crossref_metadata_2025 huggingface dataset:
Differentially expressed genes during bovine intramuscular adipocyte differentiation profiled by serial analysis of gene expression
Authors: Mizoguchi Y. , Hirano T. , Itoh T. , Aso H. , Takasuga A. , Sugimoto Y. , Watanabe T.
Published: March 2010

Beef marbling or intramuscular fat deposition is an economically important carcass trait in Japanese Black cattle. To investigate genes involved in intramuscular adipogenesis, differential gene expression during adipogenesis in a clonal bovine intramuscular preadipocyte (BIP) cell line was profiled with serial analysis of gene expression (SAGE). We sequenced 75 283 tags for the proliferation phase (day 0) and 81 878 tags for the differentiation phase (4 days after adipogenic stimulation: day 4). A comparison of the unique SAGE tag frequencies between the day 0‐ and day 4‐libraries revealed that 878 (2.8%) of the 30 989 unique putative transcripts were expressed at significantly different levels (P < 0.05); 401 tags (1.4%) were up‐regulated and 477 tags (1.2%) were down‐regulated in the day 4‐library relative to the day 0‐library. We confirmed up‐regulation of 10 tags of the genes that were up‐regulated in the previous subtraction cloning studies in BIP cells [Animal Science Journal,76(2005) 479]. Of the 878 differentially expressed tags, 377 were identified in the bovine RefSeq library and 356 were assigned a bovine draft genomic sequence. Fifteen tags were mapped in previously detected beef marbling quantitative trait loci (QTL) regions [Mammalian Genome,18(2007) 125]. These genes may be involved in the adipogenic processes of beef marbling.
Genetic mapping of quantitative trait loci for aseasonal reproduction in sheep
Authors: Mateescu R. G. , Thonney M. L.
Published: March 2010

The productivity and economic prosperity of sheep farming could benefit greatly from more effective methods of selection for year‐round lambing. Identification of QTL for aseasonal reproduction in sheep could lead to more accurate selection and faster genetic improvement. One hundred and twenty microsatellite markers were genotyped on 159 backcross ewes from a Dorset × East Friesian crossbred pedigree. Interval mapping was undertaken to map the QTL underlying several traits describing aseasonal reproduction including the number of oestrous cycles, maximum level of progesterone prior to breeding, pregnancy status determined by progesterone level, pregnancy status determined by ultrasound, lambing status and number of lambs born. Seven chromosomes (1, 3, 12, 17, 19, 20 and 24) were identified to harbour putative QTL for one or more component traits used to describe aseasonal reproduction. Ovine chromosomes 12, 17, 19 and 24 harbour QTL significant at the 5% chromosome‐wide level, chromosomes 3 and 20 harbour QTL that exceeded the threshold at the 1% chromosome‐wide level, while the QTL identified on chromosome 1 exceeded the 1% experiment‐wide significance level. These results are a first step towards understanding the genetic mechanism of this complex trait and show that variation in aseasonal reproduction is associated with multiple chromosomal regions.
Reproductive history, hormone replacement, and incidence of venous thromboembolism: the Longitudinal Investigation of Thromboembolism Etiology
Authors: Ohira Tetsuya , Folsom Aaron R. , Cushman Mary , White Richard H. , Hannan Peter J. , Rosamond Wayne D. , Heckbert Susan R.
Published: March 2010

Numerous studies have established that hormone replacement therapy increases the risk of venous thromboembolism (VTE), but an association of endogenous oestrogen exposure with the incidence of VTE is not fully established. Using a prospective design combining the Atherosclerosis Risk in Communities and the Cardiovascular Health Study cohort, we studied the 12‐year risk of VTE in relation to hormone replacement therapy use, age at menopause, parity number, and type of menopause in 8236 post‐menopausal women. There were no significant associations of age at menopause, parity number, or type of menopause with incidence of VTE. Women currently using hormone replacement had a 1·6‐times higher multivariate‐adjusted rate ratio (RR) of VTE compared with those without hormone use in the time‐dependent model (RR = 1·60, 95% confidence interval [CI], 1·06–2·36; Population attributable fraction = 6·7%, 95%CI, 1·0–10·3). When we excluded women with 1‐year or more duration of hormone therapy at baseline, the association was stronger (RR = 2·02, 95%CI, 1·31–3·12). The multivariate‐adjusted RRs of VTE for current users tended to be higher in those with idiopathic VTE (RR = 2·40, 95%CI, 1·40–4·12) than those with secondary VTE (RR = 1·08, 95%CI, 0·63–1·85). Hormone replacement therapy is associated with increased risk of VTE, but reproductive history markers of endogenous oestrogen exposure were not associated with VTE.
Epidemiology of β‐thalassaemia in Western India: mapping the frequencies and mutations in sub‐regions of Maharashtra and Gujarat
Authors: Colah Roshan , Gorakshakar Ajit , Phanasgaonkar Supriya , D’Souza Edna , Nadkarni Anita , Surve Reema , Sawant Pratibha , Master Dilip , Patel Ramesh , Ghosh Kanjaksha , Mohanty Dipika
Published: March 2010

Although the average frequency of β‐thalassaemia carriers in India is 3–4% and the prevalent mutations have been studied, no micromapping has been done. This is the first attempt to provide an accurate estimate of the frequencies of β‐thalassaemia and the expected annual births of homozygous children in different districts of Maharashtra and Gujarat in Western India as well as to determine the molecular heterogeneity in different sub‐regions in these states. A total of 18 651 individuals were screened for haemo‐globinopathies and mutations were characterized in 1334 β‐thalassaemia heterozygotes. There was an uneven distribution of the frequencies of β‐thalassaemia, varying from 1·0% to 6·0% and 0% to 9·5% in different districts of Maharasthra and Gujarat. The rate of homozygosity per 1000 births annually was 0·28 in Maharashtra and 0·39 in Gujarat. The three most prevalent β‐thalassaemia mutations in Maharashtra were IVS 1‐5(G→C), Codon 15(G→A) and Codon 30(G→C) (87·9%) while in Gujarat they were IVS 1‐5(G→C), 619 bp deletion and Codon 5(‐CT) (68·5%). These data will help to develop adequate programmes for control and care where they are most needed. They also emphasize the importance of subgroup micromapping for determining the health burden of a common genetic disease.
UV inhibits allergic airways disease in mice by reducing effector CD4+ T cells
Authors: McGlade J. P. , Strickland D. H. , Lambert M. J. M. , Gorman S. , Thomas J. A. , Judge M. A. , Burchell J. T. , Zosky G. R. , Hart P. H.
Published: March 2010

Background
In human asthma, and experimental allergic airways disease in mice, antigen‐presenting cells and CD4+ effector cells at the airway mucosa orchestrate, and CD4+CD25+ regulatory T cells attenuate, allergen immunity. UV irradiation of skin before sensitization with ovalbumin (OVA) causes significantly reduced asthma‐like responses in respiratory tissues.

Objective
To determine whether UV‐induced changes in CD11c+ cells, CD4+CD25+ effector cells or CD4+CD25+ regulatory cells in the trachea and airway draining lymph nodes (ADLNs) were responsible for reduced allergic airways disease.

Methods
The phenotype and function of CD11c+ cells and CD4+CD25+ cells in the trachea and ADLNs of UV‐ and non‐irradiated, OVA‐sensitized mice was examined 24 h after a single exposure to aerosolized OVA.

Results
No changes in the function of CD11c+ cells from UV‐irradiated mice were observed. CD4+CD25+ cells from UV‐irradiated, OVA‐sensitized mice harvested 24 h after OVA aerosol proliferated less in response to OVA in vitro and were unable to suppress the proliferation of OVA‐sensitized responder cells. This result suggested reduced activation of effector T cells in the airway mucosa of UV‐irradiated, OVA‐sensitized mice. To exclude regulatory cells of any type, there was similar proliferation in vivo to aerosolized OVA by CFSE‐loaded, OVA‐TCR‐specific CD4+ cells adoptively transferred into UV‐ and non‐irradiated, OVA‐sensitized mice. In addition, there was no difference in the expression of regulatory T cell markers (Foxp3, IL‐10, TGF‐β mRNA). To examine effector T cells, ADLN cells from UV‐irradiated, OVA‐sensitized and ‐challenged mice were cultured with OVA. There was reduced expression of the early activation marker CD69 by CD4+CD25+ cells, and reduced proliferation in the absence of the regulatory cytokine, IL‐10.

Conclusion
Reduced allergic airways disease in UV‐irradiated mice is due to fewer effector CD4+CD25+ cells in the trachea and ADLNs, and not due to UV‐induced regulatory cells.

Cite this as: J. P. McGlade, D. H. Strickland, M. J. M. Lambert, S. Gorman, J. A. Thomas, M. A. Judge, J. T. Burchell, G. R. Zosky and P. H. Hart, Clinical & Experimental Allergy, 2010 (40) 772–785.
Long‐term hyperglycaemia decreases gastrocnemius susceptibility to permeability transition
Authors: Lumini‐Oliveira José , Ascensão António , Pereira Cláudia V. , Magalhães Sérgio , Marques Franklin , Oliveira Paulo J. , Magalhães José
Published: March 2010

Eur J Clin Invest 2010; 40 (4): 319–329

Background  Hyperglycaemia‐resulting in mitochondrial bioenergetics’ complications is associated with skeletal muscle dysfunction. The aim of this work was to analyse the effect of long‐term severe hyperglycaemia on gastrocnemius mitochondrial bioenergetics, with special relevance on the susceptibility to mitochondrial permeability transition pore (MPTP) opening.

Methods  Sixteen adult (6‐ to 8‐week‐old) male Wistar rats were randomly divided into two groups (n = 8/group): control and diabetic. A single dose (50 mg kg−1) of streptozotocin (STZ) was administrated i.p. to induce hyperglycaemia. In vitro mitochondrial oxygen consumption rates, membrane potential (Δψ) fluctuations, MPTP induction as followed by osmotic swelling and extramitochondrial calcium movements and caspase 9‐like activity were evaluated 18 weeks after STZ treatment.

Results  STZ treatment induced an increase in state 4 and a decrease in the respiratory control ratio with complex I substrates (P < 0·05), whereas no differences were observed using complex II substrates. In both conditions, no significant differences were observed when measuring maximal Δψ, although STZ treatment increased Δψ during ADP‐induced depolarization when succinate was used. The most critical result was that muscle mitochondria isolated from STZ‐treated rats showed a decrease susceptibility to MPTP induction by calcium, as followed by two different experimental protocols. Interestingly, the protection was accompanied by a decrease in muscle caspase 9‐like activity.

Conclusions  These data demonstrate that 18 weeks of STZ treatment lead to a decrease in gastrocnemius mitochondrial respiratory control ratio and to decreased calcium‐dependent mitochondrial MPTP. Results from this and other works suggest that mitochondrial effects of hyperglycaemia are time and organ specific.
Holliday junction–binding activity of human SPF45
Authors: Horikoshi Naoki , Morozumi Yuichi , Takaku Motoki , Takizawa Yoshimasa , Kurumizaka Hitoshi
Published: March 2010

SPF45 is considered to be a bifunctional protein that functions in splicing and DNA repair. A previous genetic study reported that Drosophila SPF45 participates in the DNA‐repair pathway with a RAD51‐family protein, RAD201, suggesting that SPF45 may function in DNA repair by the homologous‐recombination pathway. To study the function of SPF45 in homologous recombination, we purified human SPF45 and found that it preferentially binds to the Holliday junction, which is a key DNA intermediate in the homologous‐recombination pathway. Deletion analyses revealed that the RNA recognition motif, which is located in the C‐terminal region of human SPF45, is not involved in DNA binding. On the other hand, alanine‐scanning mutagenesis identified the N‐terminal lysine residues, which may be involved in Holliday junction binding by human SPF45. We also found that human SPF45 significantly binds to a RAD51 paralog, RAD51B, although it also binds to RAD51 and DMC1 with lower affinity. These biochemical results support the idea that human SPF45 functions in DNA repair by homologous recombination.
Genetic analysis of haemophilia A in Taiwan
Authors: CHEN Y.‐C. , HU S.‐H. , CHENG S.‐N. , CHAO T.‐Y.
Published: March 2010

Summary.  Haemophilia A (HA) is an X‐linked bleeding disorder caused by mutations in the factor VIII (FVIII) gene. Identification of these mutations is becoming increasingly important in a variety of clinical settings. The purpose of this report is to describe our experience of FVIII gene mutation analysis in the largest cohort of patients in Taiwan including the discovery of 21 novel mutations. We tested 115 HA patients from 91 unrelated families, including 79 severe, 15 moderate and 21 mild types starting with an assay for the intron 22 inversion by long range‐PCR followed if necessary by additional genetic studies. Intron 22 inversion accounted for 27.8% of the total and 36.7% of severe HA patients respectively while intron 1 inversion comprised 7.6% of severe patients. These were clearly different from the known data in caucasian populations. Of 75 patients without intron 22 or 1 inversion, 70 from 62 unrelated families revealed 56 different mutations by denaturing high‐performance liquid chromatography (DHPLC), of which 21 were novel. Also, the only female patient with severe HA was found to have heterozygous non‐sense mutation (c.6683G>A) of exon 24. Seven patients, including five without amplified PCR product and two without encoded DNA defect turned out to have exon(s) deletion or insertion by reverse transcript PCR (RT‐PCR). In our study, the combination of various molecular techniques including LR‐PCR, multiplex PCR, DHPLC and RT‐PCR analysis enabled definitive detection of the causative FVIII gene defects in 112 of 113 (99%) HA patients.
Remission of paroxysmal atrial fibrillation with iron reduction in haemophilia A
Authors: ZACHARSKI L. R. , MCKERNAN L. , METZGER M. E. , MALONE M. G. , SAMNOTRA V. , BHARGAVA A. , STEINER P. R. , RAUWERDINK C. A. , ORNSTEIN D. L. , CORNELL C. J.
Published: March 2010

Summary.  Two male first cousins with mild haemophilia A had baseline factor VIII levels of 12–15% and experienced bleeding requiring coagulation factor infusion therapy with trauma and surgical procedures. Both the patients with haemophilia A also had electrocardiographically documented symptomatic paroxysmal atrial fibrillation (PAF) for several years that had become resistant to pharmacological suppression. Radiofrequency ablation was considered in both the cases but deferred considering refusal of consent by the patients to undergo the procedure. Remission of arrhythmias has been reported in patients with iron‐overload syndromes. Body iron stores assessed by serum ferritin levels were elevated in both men but neither had the C282Y or H63D genes for haemochromatosis. Calibrated reduction of iron stores by serial phlebotomy, avoiding iron deficiency, was followed by remission of symptomatic PAF in both cases. Iron reduction may be an effective treatment for arrhythmias apart from the classic iron‐overload syndromes and deserves further study particularly in patients with bleeding disorders who might be at risk for arrhythmias and other diseases of ageing.
Limitations of beam damage in electron spectroscopic tomography of embedded cells
Authors: ARONOVA M.A. , SOUSA A.A. , ZHANG G. , LEAPMAN R.D.
Published: March 2010

Elemental mapping in the energy filtering transmission electron microscope (EFTEM) can be extended into three dimensions (3D) by acquiring a series of two‐dimensional (2D) core‐edge images from a specimen oriented over a range of tilt angles, and then reconstructing the volume using tomographic methods. EFTEM has been applied to imaging the distribution of biological molecules in 2D, e.g. nucleic acid and protein, in sections of plastic‐embedded cells, but no systematic study has been undertaken to assess the extent to which beam damage limits the available information in 3D. To address this question, 2D elemental maps of phosphorus and nitrogen were acquired from unstained sections of plastic‐embedded isolated mouse thymocytes. The variation in elemental composition, residual specimen mass and changes in the specimen morphology were measured as a function of electron dose. Whereas 40% of the total specimen mass was lost at doses above 106 e−/nm2, no significant loss of phosphorus or nitrogen was observed for doses as high as 108 e−/nm2. The oxygen content decreased from 25 ± 2 to 9 ± 2 atomic percent at an electron dose of 104 e−/nm2, which accounted for a major component of the total mass loss. The specimen thickness decreased by 50% after a dose of 108 e−/nm2, and a lateral shrinkage of 9.5 ± 2.0% occurred from 2 × 104 to 108 e−/nm2. At doses above 107 e−/nm2, damage could be observed in the bright field as well in the core edge images, which is attributed to further loss of oxygen and carbon atoms. Despite these artefacts, electron tomograms obtained from high‐pressure frozen and freeze‐substituted sections of C. elegans showed that it is feasible to obtain useful 3D phosphorus and nitrogen maps, and thus to reveal quantitative information about the subcellular distributions of nucleic acids and proteins.
Improved structural characterization of chromosomal breakpoints using high resolution custom array‐CGH
Authors: Lindstrand A , Schoumans J , Gustavsson P , Hanemaaijer N , Malmgren H , Blennow E
Published: March 2010

Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E. Improved structural characterization of chromosomal breakpoints using high resolution custom array‐CGH.

Array‐CGH is a powerful tool for the rapid detection of genomic imbalances. By customizing the array it is possible to increase the resolution in a targeted genomic region of interest and determine the structure of the breakpoints with high accuracy, as well as to detect very small imbalances. We have used targeted custom arrays to zoom in on 38 chromosomal breakpoints from 12 different patients carrying both balanced and unbalanced rearrangements. We show that it is possible to characterize unbalanced breakpoints within 17–20,000 bp, depending on the structure of the genome. All of the deletion and duplication breakpoints were further refined and potential underlying molecular mechanisms of formation are discussed. In one of seven carriers of apparently balanced reciprocal translocations we detected a small deletion of 200 bp within the previously FISH‐defined breakpoint, and in another patient, a large deletion of 11 Mb was identified on a chromosome not involved in the translocation. Targeted custom oligonucleotide arrays make it possible to perform fine mapping of breakpoints with a resolution within the breakpoint region much higher compared to commercially available array platforms. In addition, identification of small deletions or duplications in apparently balanced rearrangements may contribute to the identification of new disease causing genes.
Construction of a barley bacterial artificial chromosome library suitable for cloning genes for boron tolerance, sodium exclusion and high grain zinc content
Authors: Shi B. J. , Sutton T. , Collins N. C. , Pallotta M. , Langridge P.
Published: March 2010

With 3 figures and 2 tables

Tolerance to soil boron toxicity, salinity and zinc deficiency is required for maintaining adequate yields on many soils, while a high content of zinc in the grain is desirable for human nutrition. To facilitate the identification of genes for these traits in barley, we constructed a bacterial artificial chromosome (BAC) library of the barley‐doubled haploid line CS134 derived from a cross between the Australian malting variety ‘Clipper’ and the Algerian landrace Sahara 3771. CS134 contains tolerance alleles from Sahara 3771 at four boron tolerance loci, genes at two loci conferring high zinc content in seeds, and a gene from ‘Clipper’ that limits shoot sodium accumulation. The library contains 221184 clones and has an average insert size of around 120 kb, giving a 4.9‐fold coverage of the barley genome. Clones were recovered from the library using probes closely linked to the boron tolerance locus on chromosome 4H. One of the positive BAC clones facilitated isolation and sequencing of the boron tolerance gene (Bot1) at this locus. Therefore, the BAC library represents a useful tool that could be used to isolate several genes of agronomic interest. In the process of constructing this library, we identified several technical modifications that improve the efficiency of BAC library construction.
Confirmation that the Er3 gene, conferring resistance to Erysiphe pisi in pea, is a different gene from er1 and er2 genes
Authors: Fondevilla S. , Cubero J. I. , Rubiales D.
Published: March 2010

With 1 table

Only two genes conferring resistance to powdery mildew, er1 and er2, were known in Pisum sativum, till the recent postulation of a new dominant gene in Pisum fulvum, Er3. However, additional studies were needed to discern whether Er3 was a novel gene or just a new allele at either er1 or er2. In this study, we demonstrate that Er3 segregates independently from er1 and er2 genes, being therefore a different gene. We also prove that Er3 is present in several P. fulvum accessions.
Inverse association between Helicobacter pylori infection and allergic rhinitis in young Japanese
Authors: Imamura Shigeyoshi , Sugimoto Mitsushige , Kanemasa Kazuyuki , Sumida Yoshio , Okanoue Takeshi , Yoshikawa Toshikazu , Yamaoka Yoshio
Published: March 2010

Background and Aim:  The prevalence of allergic disorders, including asthma, atopic dermatitis, and allergic rhinitis has been increasing, and the prevalence of Helicobacter pylori (H. pylori) infection has been decreasing. Chronic bacterial infection during childhood is reported to protect the development of allergic diseases. The aim of the present study was to identify whether H. pylori infection influences the prevalence of allergic rhinitis, which has become a serious social problem, especially in the developed countries.

Methods:  We initially investigated the association between the prevalence of H. pylori and pollinosis symptoms in 97 healthy volunteers. We had investigated the association between the serum H. pylori–immunoglobulin (Ig) G antibodies and specific IgE antibodies for pollen, mites, and house dust in 211 consecutive patients.

Results:  There were 52.2% (36/69) of H. pylori‐negative volunteers with allergic symptoms, which was significantly higher than H. pylori‐positive volunteers (14.3%, 4/28, P < 0.05). The risk of pollinosis symptoms by H. pylori infection was 0.148 (95% confidence interval): 0.046–0.475, P < 0.05). The prevalence of H. pylori infection increased according to age, whereas that of specific IgE‐positive patients gradually decreased. Among the IgE‐positive patients, the prevalence of H. pylori‐negative patients was significantly higher than H. pylori‐positive patients who were younger in age (P < 0.05).

Conclusion:  H. pylori infection decreased the pollinosis effects, especially among the younger volunteers. However, the prevalence of pollinosis in patients who were 50 years or older were almost same between H. pylori‐positive and H. pylori‐negative patients; therefore, the recent increase of pollinosis might relate to not only H. pylori infection, but also change in social environment.
Reversal of the tolerance phenomenon by the intermittent administration of a histamine H2‐receptor antagonist
Authors: Takahashi Morio , Katayama Yasumi
Published: March 2010

Background and Aim: The attenuated antisecretory activity of H2‐receptor antagonists (H2RA) during continuous administration is referred to as the tolerance phenomenon. A previous study indicated thatHelicobacter pylori(H. pylori) infection prevents the occurrence of tolerance to H2RA. In the present study, we investigated whether intermittent (every other day) administration prevents the tolerance phenomenon inH. pylori‐negative patients.

Methods: TenH. pylori‐negative, healthy volunteers were included in the study. All of the patients underwent two courses of H2RA (lafutidine) administration: 21‐day continuous administration (every day), followed by 21‐day intermittent administration (every other day), with at least a 21‐day lafutidine‐free period between the first and second courses. All of the patients were examined by ambulatory intragastric pH monitoring five times: before medication, and on days 1 and 21 of the first (continuous) and second (intermittent) courses of lafutidine (10 mg b.d.) in a crossover fashion.

Results: The continuous administration of lafutidine had a significantly attenuated, acid‐suppressing effect inH. pylori‐negative patients, and showed evidence of the tolerance phenomenon. However, the tolerance phenomenon was not observed through intermittent administration.

Conclusions: These results demonstrated that inH. pylori‐negative patients, tolerance to H2RA, induced by continuous lafutidine administration, was reversed by subsequent intermittent administration.
Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population
Authors: Siddapuram Siva Prasad , Mahurkar Swapna , Duvvuru Nageshwar Reddy , Mitnala Sasikala , Guduru Venkat Rao , Rebala Pradeep , Mansard Magnus Jayaraj
Published: March 2010

Background and Aim:  Gallstone formation is characterized by the abnormal regulation of cholesterol trafficking and solubilization. The prevalence of gallstone disease (GSD) differs between ethnic groups sharing the common environment. These differences can be explained by a genetic predisposition to gallstone formation. Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in the cholesterol transporter gene ATP‐binding cassette, subfamily G, member 8 (ABCG8) in patients with cholesterol gallstones. The aim of this study was to analyze the relationship between D19H and T400K polymorphisms in the ABCG8 gene and GSD in an Indian population, and the effects of these polymorphisms on cholesterol levels in sera and bile.

Methods:  A total of 226 patients with GSD were analyzed for their lipid profile in plasma and bile. A total of 289 controls were recruited, and their plasma lipid profile was analyzed by standard protocols. The genotype of SNP D19H and T400K of ABCG8 was analyzed in 226 patients and 222 control samples. SNP D19H was analyzed by direct sequencing, and SNP T400K genotyping was assayed by the amplification refractory mutation system–polymerase chain reaction.

Results:  There was no significant difference in the allelic distribution of SNP T400K between the GSD and gallstone‐free groups (P > 0.05), but the distribution of the SNP variant, D19H, was significantly higher (P = 0.017, odds ratio = 2.274) in patients compared to controls. The analysis of serum and bile cholesterol followed a strong association with genotypes.

Conclusion:  SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population.
Ophthalmic presentation of Wegener's granulomatosis on a background of polymyalgia rheumatica
Authors: Clark Georgina C , Moloney Gregory , Sutton Gerard
Published: March 2010

Abstract

We present a case of Wegener's granulomatosis (WG) in a 79‐year‐old man with limbitis and granulomatous conjunctivitis, on a background of polymyalgia rheumatica (PMR). The undifferentiated nature of ocular presentations of WG can be diagnostically challenging, especially in cases, such as this, where findings are initially inconclusive and evolve with time. This case highlights the significance of a history of PMR in patients with ocular inflammation. The systemic inflammatory systems of WG, including arthralgias, may mimic other conditions such as PMR. Patients with undifferentiated ocular inflammatory syndromes should be questioned regarding arthralgias, myalgias and stiffness. Such symptoms, or a background of PMR, should raise suspicion of WG.
Transient alginate gene expression by Pseudomonas putida biofilm residents under water‐limiting conditions reflects adaptation to the local environment
Authors: Li Xiaohong , Nielsen Lindsey , Nolan Connor , Halverson Larry J.
Published: March 2010

Under water‐limiting conditions Pseudomonas putida produces the exopolysaccharide alginate, which influences biofilm development and facilitates maintaining a hydrated microenvironment. Since alginate is a minor biofilm matrix component it is important to determine whether alginate production occurs by all or a subset of residents, and when and to what extent cells contribute to alginate production. To address these questions we employed stable and unstable fluorescent reporters to measure alginate biosynthesis (algD) operon expression and metabolic activity in vivo quantitatively by flow cytometry and visually by microscopy. Here we report that during growth under water‐limiting conditions and when biofilms become dehydrated most residents transiently express the alginate biosynthesis genes leading to distinct spatial patterns as the biofilm ages. Transient alginate gene expression was not a consequence of decreased metabolic activity, since metabolic reporters were still expressed, nor was it likely due to transient cytosolic availability of the alternative sigma factor AlgT, based on qRT‐PCR. Our findings also indicate that one or more biofilm attribute, other than alginate, provides protection from desiccation stress. Collectively, our findings suggest that differentiated cells dedicated to alginate production are not part of the P. putida biofilm lifestyle under water‐limiting conditions. Alternatively, P. putida biofilm cells may be responding to their own local environment, producing alginate because of the fitness advantage it confers under those particular conditions.
A comparison of the binding of urinary calcium oxalate monohydrate and dihydrate crystals to human kidney cells in urine
Authors: Wang Tingting , Thurgood Lauren A. , Grover Phulwinder K. , Ryall Rosemary L.
Published: March 2010

OBJECTIVE

To compare the binding kinetics of urinary calcium oxalate monohydrate (COM) and dihydrate (COD) crystals to human kidney (HK‐2) cells in ultra‐filtered (UF), and centrifuged and filtered (CF) human urine; and to quantify the binding of COM and COD crystals to cultured HK‐2 cells in UF and CF urine samples collected from different individuals.

MATERIALS AND METHODS

Urine was collected from healthy subjects, pooled, centrifuged and filtered. 14C‐oxalate‐labelled COM and COD crystals were precipitated from the urine by adding oxalate after adjustment of two aliquots of the urine to 2 and 8 mm Ca2+, respectively. For the kinetic study, the crystals were incubated with HK‐2 cells for up to 120 min in pooled CF urine adjusted to 2 and 8 mm Ca2+. Identical experiments were also carried out in UF urine samples collected from the same individuals. For the quantitative study, the same radioactively labelled COM and COD crystals were incubated with HK‐2 cells for 50 min in separate CF and UF urines collected from eight healthy individuals at the native Ca2+ concentrations of the urines. Field emission electron microscopy and Fourier transform‐infrared spectroscopy were used to confirm crystal morphology.

RESULTS

COM and COD crystals generally bound more strongly at 8 mm than at 2 mm Ca2+. The kinetic binding curves of COM were smooth, while those of COD were consistently biphasic, suggesting that the two crystal types induce different cellular metabolic responses: HK‐2 cells crystals appear to possess a transitory mechanism for detaching COD, but not COM crystals. In UF urine, COM binding was significantly greater than that of COD at 2 mm Ca2+, but at 8 mm Ca2+ the binding of COD was greater at early and late time points. COD also bound significantly more strongly at early time points in CF urine at both 2 and 8 mm Ca2+. In both CF and UF urine, there was no difference between the binding affinity of urinary COM and COD crystals.

CONCLUSION

Binding of both COM and COD crystals to cultured human renal epithelial cells is influenced by urinary macromolecules and ambient Ca2+ concentration. HK‐2 cells appear to possess a mechanism for the rapid detachment of bound COD crystals, making it difficult to show any unambiguous overall difference between the binding affinity of COM and COD crystals.
Extracorporeal high intensity focused ultrasound for renal tumours: a 3‐year follow‐up
Authors: Ritchie Robert W. , Leslie Tom , Phillips Rachel , Wu Feng , Illing Rowland , Ter Haar Gail , Protheroe Andrew , Cranston David
Published: March 2010

Study Type – Therapy (case series) Level of Evidence 4

OBJECTIVE

To determine whether primary extracorporeal high‐intensity focused ultrasound (HIFU) is safe, feasible and effective for managing small renal tumours.

PATIENTS AND METHODS

Although surgery currently remains the standard treatment for localized renal cell carcinoma (RCC), the increasing incidence of small renal cancers has led to a shift towards nephron‐sparing surgery, with associated morbidity in 20–25% of cases, and minimally invasive ablative therapies present an alternative management. HIFU results in ‘trackless’ homogenous tissue ablation and when administered via an extracorporeal device, is entirely noninvasive. The study comprised 17 patients (mean tumour size 2.5 cm) with radiologically suspicious renal tumours who underwent extracorporeal HIFU using the Model‐JC System (Chongqing HAIFUTM, China), under general anaesthesia with one overnight hospital stay. Real‐time diagnostic ultrasonography was used for targeting and monitoring. Patients were followed with a clinical review and gadolinium‐enhanced magnetic resonance imaging at 12 days and every 6 months for a mean of 36 months. The outcomes measures were patient morbidity and oncological efficacy of HIFU treatment.

RESULTS

Of the 17 patients, 15 were treated according to protocol; two procedures were abandoned due to intervening bowel. There were no major complications related to HIFU. Radiological evidence of ablation was apparent at 12 days in seven of the 15 patients. Before the 6‐month follow‐up one patient had surgery due to persisting central enhancement. Fourteen patients were evaluated at the 6‐month follow‐up; eight tumours had involuted (mean 12% decrease in tumour area). Four patients had irregular enhancement on imaging and had alternative therapies. Ten patients remain on follow‐up at a mean (range) of 36 (14–55) months after HIFU (mean 30% decrease in tumour area). There was central loss of enhancement in all.

CONCLUSIONS

Renal HIFU achieves stable lesions in two‐thirds of patients, with minimal morbidity, and might be appropriate in selected cases. Further trials with accurate histological follow‐up are essential to fully evaluate this novel technique.
Introduction: employment relations in India—old narratives and new perspectives
Authors: Bhattacherjee Debashish , Ackers Peter
Published: March 2010

This article establishes an overarching conceptual, historical and academic context for approaching Indian industrial relations (IR). The Introduction explores changing comparative approaches to the ‘IR System’ of a developing country in light of India's complex and unique employment realities. Then we trace, in two parts, the evolution of Indian IR since independence and argue that theories developed in the West are of only limited value in understanding this. In conclusion, we consider the way in which Indian academic IR and other social science disciplines have addressed this problem. This leads on to the four research articles that complete this special edition.
Clinical efficacy comparison of anti‐wrinkle cosmetics containing herbal flavonoids
Authors: Chuarienthong P. , Lourith N. , Leelapornpisid P.
Published: March 2010

Synopsis

Herbal anti‐wrinkle cosmetics were formulated from ginkgo (Ginkgo biloba), a mixture of tea and rooibos (Camellia sinensis and Aspalathus linearis) and soybean (Glycine soja). These extracts were incorporated into the preliminary developed stable gel base with good preference. The gingko formulation was found to be more stable than the formula containing a mixture of tea and rooibos and the soybean formula. Clinical efficacies of the ginkgo formula and the formula containing a mixture of tea and rooibos were compared following 28 days of application. The ginkgo preparation increased skin moisturization (27.88%) and smoothness (4.32%) and reduced roughness (0.4%) and wrinkles (4.63%), whereas the formula containing tea and rooibos showed the best efficacy on wrinkle reduction (9.9%). In comparison to the tea and rooibos formula, gingko significantly improved skin moisturization (P = 0.05).
Cardiovascular risk factors in patients with plaque psoriasis: a systematic review of epidemiological studies
Authors: Prey S , Paul C , Bronsard V , Puzenat E , Gourraud P‐A , Aractingi S , Aubin F , Bagot M , Cribier B , Joly P , Jullien D , Le Maitre M , Richard‐Lallemand M‐A , Ortonne J‐P
Published: March 2010

Introduction  Many epidemiological studies have associated psoriasis with an increased risk of coronary artery disease, resulting from a higher prevalence of cardiovascular risk factors in psoriasis patients compared with unmatched controls. However, the results of epidemiological studies vary depending upon the populations studied. The aim of this systemic review was to evaluate the risk of diabetes, hypertension, dyslipidaemia and obesity in adults with plaque psoriasis. In addition, we assessed the relationship between the risk of cardiovascular risk factors and psoriasis severity.

Methods  A systematic search was performed on Pubmed, Cochrane and Embase databases, using the key‐words ‘psoriasis’, ‘diabetes’, ‘hypertension’, ‘high blood pressure’, ‘dyslipidaemia’, ‘metabolic syndrome’ and ‘obesity’, during the period from 1980 to June 2009.

Results  The initial literature search identified 353 articles. The final selection included 18 cross‐sectional case‐control studies. An increased risk of metabolic syndrome was observed in psoriatic patients (OR = 1.3–5.92), and a trend for a higher risk of obesity (OR = 1.18–5.49), especially in patients with severe psoriasis. For hypertension, hypertriglyceridaemia, and diabetes, the association was not significant in all studies.

Discussion  There was important heterogeneity in study design preventing from pooling results. Most often lifestyle factors such as smoking, alcohol consumption, physical activities were not taken into account.

Conclusion  There is an increased risk of obesity and metabolic syndrome in psoriasis. For hypertension, diabetes and dyslipidaemia no consistency was found across studies. Prospective epidemiological studies with thorough recording of cardiovascular risk factors are required in psoriasis patients.
Bacterial colonization of chronic leg ulcers: current results compared with data 5 years ago in a specialized dermatology department
Authors: Körber A , Schmid EN , Buer J , Klode J , Schadendorf D , Dissemond J
Published: March 2010

Background  In nearly every chronic wound different bacteria species can be detected. Nevertheless, the presence of such microorganisms is not necessarily obligatory associated with a delayed wound healing. But from this initially unproblematic colonization an infection up to a sepsis can arise in some patients. The aim of our clinical investigation was to analyse the spectrum of microbial colonization of patients with a chronic leg ulcer in our specialized dermatological outpatient wound clinic, and to compare them with the results of comparable data already collected 5 years ago.

Objectives  In our retrospective investigation the results of bacteriological swabs were documented in 100 patients with a total of 107 chronic leg ulcers. All patients visited the specialized wound outpatient clinic, Department of Dermatology, University of Essen in Germany.

Methods  A total of 60 patients were female, 40 were male. The mean age was 65 years. Altogether a total of 191 bacterial isolates and 25 different bacterial species could be identified.

Results  The most often detected species were Staphylococcus aureus (n = 60), Pseudomonas aeruginosa (n = 36) as well as Proteus mirabilis (n = 17). In 10 patients (10%) we identified a colonization with methicillin resistant S. aureus (MRSA). Merely in 6 patients the taken swabs were sterile. Five years ago a comparable investigation was already carried out in our wound outpatient clinic. At that time we could detect in particular more frequent MRSA (21.5% vs. 10%) and rarely P. aeruginosa (24.1% vs. 33.6%).

Conclusion  The results of our investigation demonstrate the current spectrum of the bacterial colonization in patients with chronic leg ulcers in a university dermatological wound centre in comparison to the last 5 years. In our institution we were able to demonstrate a shift of the detected bacterial species from gram‐positive in direction to gram‐negative germs. Beside the already known problems with MRSA, in future therapeutic strategies in patients with chronic leg ulcers the increasing amount of gram‐negative bacteria and especially of P. aeruginosa should considered.
A novel mutation in the cathepsin C gene in a Pakistani family with Papillon‐Lefevre syndrome
Authors: Kurban M , Cheng T , Wajid M , Kiuru M , Shimomura Y , Christiano AM
Published: March 2010

Background  Papillon‐Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. CTSC gene is expressed in several tissues including the skin and cells of the immune system. In the skin, CTSC plays a role in differentiation and desquamation, whereas in the immune system, it activates serine proteases.

Objectives  We analysed the molecular basis of PLS in a Pakistani family.

Methods  Genomic DNA was isolated from the sample according to standard techniques. All exons of the CTSC gene with adjacent sequences of exon–intron borders were amplified by PCR and directly sequenced.

Results  We identified a novel deletion mutation designated c.2ldelG (Leu7PhefsX57) in exon 1 of the CTSC gene, which probably results in the absence of CTSC protein.

Conclusion  Our data further expand the spectrum of mutations in the CTSC gene underlying PLS.
Psoriasis: an epidemiological evaluation of disease burden in 590 patients
Authors: Meyer N , Paul C , Feneron D , Bardoulat I , Thiriet C , Camara C , Sid‐Mohand D , Le Pen C , Ortonne JP
Published: March 2010

Background  There are limited data available on the economical burden of psoriasis and its impact on everyday life.

Objective  The aim of this study was to evaluate the impact of psoriasis on personal and professional life, and to evaluate the cost of psoriasis for the patient.

Methods  We performed a cross‐sectional study in psoriasis patients. All patients aged ≥18 years with a diagnosis of plaque‐psoriasis confirmed by a physician were included. A self‐administered questionnaire evaluating everyday life was constructed with members of the French association of psoriasis patients. In addition, the Dermatology Life Quality Index (DLQI), Working Productivity and Activity Impairment and individual costs were assessed.

Results  A total of 590 patients completed the study. Mean age of the responders was 56 years. The mean DLQI score was 8.5 for patients with severe psoriasis vs. 6.4 for mild psoriasis. Global loss of productivity was 10.7% without significant difference according to the disease severity. Daily activities alteration was most important in patients with severe psoriasis. In this study, 36.8% of patients with severe psoriasis reported a negative impact on their professional life vs. 19.6% for patients with mild psoriasis (P = 0.002). Time devoted to phototherapy was on average 33 h/year/patient and the application of emollients took 25 h/year/patient; 47.3% of patients had a feeling to clean the house more often, in correlation with the severity of the disease. Mean out‐of‐pocket expenses for the disease was estimated to be 543€/year/patient. High impact of psoriasis on quality of life (DLQI >10), age <40 years and joint involvement were significantly associated with an increased risk of loss of work productivity.

Conclusion  Psoriasis, particularly severe psoriasis, is a true burden for patients and impacts significantly everyday life and patient’s economical resources.
Efficacy and tolerability of pale sulfonated shale oil cream 4% in the treatment of mild to moderate atopic eczema in children: a multicentre, randomized vehicle‐controlled trial
Authors: Korting HC , Schöllmann C , Cholcha W , Wolff L ,   The Collaborative Study Group
Published: March 2010

Background  Reports on controlled trials on the efficacy and tolerability of sulfonated shale oils in atopic eczema are not available so far. The aim of this study was to investigate whether topically applied, specially prepared pale sulfonated shale oil (PSSO) cream is capable of improving symptoms/signs of mild to moderate atopic eczema in children more efficaciously than a corresponding vehicle cream.

Patients and methods  A total of 99 children suffering from mild to moderate atopic eczema were enrolled in this multicentre, randomized, vehicle‐controlled study. Verum or vehicle cream was applied to the affected skin area three times a day over 4 weeks. As the primary outcome parameter served the reduction of the total score after 4 weeks of treatment, compared with the initial examination. Secondary outcome parameters were addressed as well. Tolerability was judged by investigators and patients/parents, and adverse events were documented.

Results  After 4 weeks of treatment, the total score declined from 13.4 ± 3.7 to 4.5 ± 7.4 score points in the verum group and from 13.0 ± 3.1 to 11.7 ± 8.6 score points in the vehicle group (P < 0.0001). The superiority of verum regarding total score was already apparent after a treatment period of 1 week (reduction by 5.6 ± 4.3 vs. 1.3 ± 5.9 score points; P < 0.0001). Tolerability was found superior at the end of the treatment in the verum when compared with the control group – both by investigators (P < 0.0001) and patients/parents (P = 0.0051).

Conclusion  Pale sulfonated shale oil cream 4% is capable to treat mild to moderate atopic eczema in children more efficaciously than vehicle and is well tolerated. PSSO thus represents a valuable addition to our therapeutic armamentarium. PSSO should be considered in particular when valid alternatives for topical glucocorticoids are sought for.
Cutaneous angiosarcoma: own experience over 13 years. Clinical features, disease course and immunohistochemical profile
Authors: Donghi D , Kerl K , Dummer R , Schoenewolf N , Cozzio A
Published: March 2010

Background  Cutaneous angiosarcoma (AS) is a rare malignant tumour of endothelial origin with very poor prognosis, frequent recurrences and high metastatic potential. Clinical suspicion is often raised too late, but histological findings and immunohistochemical assays have proved to be very helpful in the diagnostic process.

Patients and methods  Over the last 13 years, nine patients with AS were found in our archives. Clinical features, evolution, treatment and outcome were analysed and all biopsy specimens were reviewed by a trained dermatopathologist, with subsequent immunohistochemical assessment.

Results and conclusions  Cutaneous AS was clinically diagnosed in 4 of 9 patients, while systemic lupus erythematosus was the most common misdiagnosis. Radiotherapy was the most prescribed treatment, but many different combinations of surgery, chemotherapy and radiotherapy were observed. Mean disease‐free and overall survival (15.4 and 23.7 respectively) were consistent with previous series, with local recurrence rate (2/9) lower than previously reported data. CD31 was positive in all patients. Vimentin, D2‐40 and VEGFR‐3 were expressed by the vast majority, Factor VIII by 3/7 and CD34 by about 1/3 of patients. Cytokeratin was negative in all patients. The patients with the most unfavourable course showed a strong expression of Ki‐67, while those with the best outcome only had a slight positive Ki‐67 staining. Larger studies regarding tumour cell expression of Ki‐67 and other markers such as D2‐40 will be helpful to evaluate a potential prognostic value of these stainings.