bluuebunny/crossref_metadata_2025 huggingface dataset:
Micromorphologie des épidermes foliaires chez quelques espèces de Medicago
Authors: Damerval Catherine
Published: October 2007

The micromorphology of the abaxial epidermis of the first and sixth leaf has been studied in seven annual species of Medicago L. The pattern of the epidermal cells and of the stomatal complex does not allow differentiation of the taxa. Three main types of trichomes are recognized on the two foliar levels; their localization on the first leaf epidermis allows identification of five taxa out of seven. Four quantitative variables are also examined: stomatal density, trichome density, guard cell length, and stomatal index. The variable having the best discriminant value is the guard cell length on the first leaf. It is possible to identify each of the seven species by a combination of two features: the localization of the types of trichomes on the first leaf and the stomatal density on the sixth leaf.
Étude de divers paramètres en vue de la culture in vitro des ovules de Capsella bursa-pastoris
Authors: Lagriffol Jean , Monnier Michel
Published: October 2007

Some criteria useful for the analysis of the development of embryos in fertilized ovules cultured in vitro were examined in this preliminary study. At first, it was necessary, in order to know the initial length of the embryo at time of inoculation without opening the ovule, to establish a relation between the size of the ovule and the length of the embryo. The study of the variation of length of the embryo according to the size of ovule in situ is expressed by an exponential curve whose equation is established. The choice of ovules for inoculation was made considering both the graph and the survival of embryos in ovules cultivated in vitro. The 6-day period of culture was determined by examining ovule growth. Study of ovule development, embryo growth and survival led to the choice of an optimal sucrose concentration of 80 g/L.
The effect of plant size on reproductive characteristics in Eryihronium americanum (Liliaceae)
Authors: Wolfe Lorne M.
Published: October 2007

The effect of plant size on reproductive characteristics was examined in a natural population of Erythronium americanum Ker. The number of ovules, fertilized ovules, unfertilized ovules, aborted seeds, and seeds and the fruit weight were found to be correlated positively with plant weight. Only 35% of the available ovules per plant were fertilized and 24% became seeds. Despite the low rate of ovule fertilization, nearly one-third of the fertilized ovules aborted before maturing into seeds. The majority of plant biomass was placed into nonsexual stuctures and, of these, the corm accounted for 60% of the dry weight, leaves 21%, and stem 12%. The remaining 7% was allocated to sexual structures.
Floral color patterns and pollinator attraction in a bog habitat
Authors: Douglas Sheila
Published: October 2007

Floral color in 14 species of bog plants was examined in relation to intrafloral patterns, flower morphology, background coloration, and pollinators. There were three corolla color groups: UV-absorbing white (eight species), UV-absorbing pink–red (five species), and UV-reflecting yellow (one species). Contrast with vegetational backgrounds in UV light was minimal for species that absorbed UV, but such species exhibited contrast in the visible specrtum which enhanced long-range conspicuousness. Patterns created by contrasting colors within corollas emphasized the reproductive organs and are considered as nectar guides for short-range attraction of pollinators to food rewards. Floral color was not correlated with diameter, height, or density of corollas. Bumblebee pollinators showed preferences for pink–red stereomorphic species, whereas Diptera showed preferences for white actinomorphic inflorescences.
The evolution and biological significance of seeds
Authors: Steeves T. A.
Published: October 2007

No evolutionary event in the colonization of the land by vascular plants is of greater significance than the appearance of the seed habit. What apparently began as an adaptation enhancing sexual reproduction in the absence of external free water has assumed a far broader importance in terms of survival and dispersal. The essential features of the seed habit are identified in relation to heterospory, megaspore retention, and endosporic gametophyte development and approaches to the seed habit by nonseed plants are reviewed. Seeds first appear in the fossil record of the Late Devonian Period and, in diverse forms and sizes, constitute a significant component of Carboniferous fossil floras. The rise to dominance of plants of gymnospermous affinity in the early Mesozoic and the appearance and rapid adaptive radiation of the angiosperms are discussed in relation to the significance of the seed habit. The structure and development of modern gymnosperm and angiosperm seeds are compared, and the contrasting patterns of embryogenesis in these two types of seeds are interpreted in terms of the relationship between the embryo and its nutritive support system.
Biochemical control systems operating in the early hours of germination
Authors: Osborne Daphne J.
Published: October 2007

This review describes very early biochemical events during imbibition in seeds. It considers the control systems that regulate the production of nucleic acids and proteins when the dry seed first imbibes water. During the ageing of embryos in the dry state, DNA is progressively fragmented with an accumulation of single-stranded breaks. The critical role of DNA repair early in imbibition is considered in the context of genetic integrity of the nuclear template and successful germination.
Silica deposition in the inflorescence bracts of wheat (Triticum aestivum). II. X-ray microanalysis and backscattered electron imaging
Authors: Hodson M. J. , Sangster A. G.
Published: October 2007

X-ray microanalysis and backscattered electron imaging were used to investigate silica deposition in the lower glume, lemma, and palea of wheat (Triticum aestivum L. cv. Highbury). In the lemma and glume awns, all of the outer epidermal walls were silicified, with the greatest concentration in prickles and papillae. The glume and lemma had similar structures, exhibiting silicified short cells, prickles, and papillae on both inner and outer surfaces and having macrohairs confined to areas on the inner surfaces beneath the awns. Silicified macrohairs were abundant at the apex and margins of the palea. The results are discussed with respect to previous investigations of grass inflorescence bracts. The applicability of X-ray microanalysis and backscattered electron imaging to the analysis of silica deposits in inflorescence bracts is assessed.
Barley aleurone xylanase: its biosynthesis and possible role
Authors: Benjavongkulchai E. , Spencer M. S.
Published: October 2007

The synthesis of barley (Hordeum vulgare L. cv. Himalaya) aleurone xylanase was found to be dependent on both gibberellic acid (GA3) and Ca2+, but inhibited by cycloheximide and cordycepin. Studies using density labeling of barley aleurone layers showed that xylanase was synthetized de novo in response to GA3 and Ca2+. Neither GA3 nor Ca2+ alone induced a large increase in xylanase activity. The concentration of Ca2+ required for maximum xylanase induction was 5 – 40 mM. Xylanase activity was found to develop simultaneously with that of α-amylase in the incubation medium during the first 24 h of incubation with GA3. A critical point with respect to the role of xylanase is the extent of its activity by the time of the initial release of α-amylase. The release of α-amylase into the medium was detectable at 6 h. From 2 to 6% of the cell wall was hydrolysed by xylanase after incubation for 6 h, which was probably sufficient to permit the release of α-amylase. Scanning electron microscopy showed that the purified barley aleurone xylanase hydrolysed the cell walls of barley aleurone layers in the absence of GA3. It is likely that xylanase plays an important role in the release of enzymes from aleurone cells.
Leaf grafting and its prevention by the intact and abraded epidermis
Authors: Bruck David K. , Alvarez Robert J. , Walker Dan B.
Published: October 2007

Experiments were conducted on leaf laminae to determine the effects of intact, excised, and abraded epidermal layers on the success of graft unions in Catharanthus roseus and Sedum telephoides. Lamina surfaces grafted together within 2 – 4 weeks when the epidermis was removed from both graft partners. In contrast, the presence of epidermis on one or both graft partners prevented grafting. Intact epidermal cells adjacent to wounds did not divide or undergo other visible changes except for plasmolysis and death in a few grafting situations. Epidermal cells are developmentally distinctive from underlying parenchymatous cells in that they fail to respond to stimuli that elicit redifferentiation and dedifferentiation in subepidermal tissues. Abrasion with carborundum effectively stripped the cuticular layer from parts of the leaf surfaces put into contact for grafting and increased the permeability of the surfaces to large, water-soluble, calcofluor-white molecules. Similar to grafting attempts with intact surfaces, abraded surfaces failed to graft, produce callus, or undergo any other of the observable changes that occur in exposed subepidermal cells. These results indicate that the cuticle is not responsible for the failure of intact surfaces to graft. Rather, the epidermal cell appears to be uniquely restricted in its capacity to dedifferentiate and redifferentiate. Grafting failure between freely permeable surfaces (after cuticle abrasion) refutes the notion that the cuticle obstructs passage of diffusible agents necessary to induce epidermal dedifferentiation and grafting.
Effects of 3-(p-chlorophenyl)-6-methoxy-s-triazine-2,4 (1H, 3H) dione triethanolamine (DPX-3778) treatment on the floral development of maize
Authors: Cheng P. C. , Wright D. C.
Published: October 2007

In a series of experiments to determine the physiological effects of a triazanone antidehiscence chemical, 3-(p-chlorophenyl)-6-methoxy-s-triazine-2,4 (1H, 3H) dione triethanolamine (DPX-3778), sex determination of the tassels of corn (Zea mays subsp. mays) was altered depending on the concentration and timing of application. Multiple applications of 0.005% (w/v) DPX-3778 to the leaf sheath of maize plants, or the addition of 1 ppm DPX-3778 to hydroponic growth medium, approximately 4 weeks before anthesis, caused reversion of staminate inflorescences to pistillate inflorescences. In addition to the normally developed gynoecium of the upper floret, DPX-3778 treatment resulted in the full development of the lower floret gynoecium in ear spikelets. These results could be duplicated in Northern Teosinte (Zea mays subsp. mexicana, race Nobogame). DPX-3778 could thus be useful for investigating the cellular and developmental physiology of stamens and gynoecia in corn and other monoecious grass species.
Effects of localized defoliations on female inflorescences in mountain birch, Betula pubescens ssp. tortuosa
Authors: Tuomi Juha , Vuorisalo Timo , Niemelä Pekka , Haukioja Erkki
Published: October 2007

Two experiments were done to test how the removal of foliage from small branches in mountain birch, Betula pubescens spp. tortuosa, may influence the biomass increase of female inflorescences that emerge from reproductive buds on short shoots. First, all the leaves on small twigs were removed shortly after leaf flush in June. Defoliated twigs included on average of five leaves and two reproductive short shoots. Effects of the treatment on the final length and mass of female catkins were studied in August by comparing defoliated twigs to undefoliated ones of the same trees. Second, a similar experiment was carried out by defoliating larger branches with an average of 150 leaves and 56 short shoots and by comparing defoliated branches to adjacent undefoliated branches. The first treatment reduced final weight of inflorescences by about 17% and the second treatment by about 18%. Localized defoliations can thus have limited effects on the biomass increase of female inflorescences. Short shoots are therefore partially autonomous reproductive units that are integrated subunits of higher-level interactive units, e.g., branches, root – shoot subsystems, or entire plants.
Physiological acclimations to chilling temperature in symbiotically grown alfalfa
Authors: Macdowall F. D. H. , Layzell D. B. , Walsh K. B. , Denes A. S.
Published: October 2007

An apparent shoot rest period was induced in the 2nd month of growth of alfalfa (Medicago sativa L.) seedlings by a drop in growth temperature from 25:20 °C to 10:7 °C. After prolonged chilling the shoots were replaced by new shoots. Temperature profiles of nodulated root respiration and nitrogenase activity (acetylene reduction and H2 evolution) were measured simultaneously in experiments with a flow-through gassing system during 3 months of cold treatment. Net photosynthesis of whole plants was measured in a closed system. More than half the total initial nitrogenase activity and relative efficiency (RE) were lost during the rest period and recovered during regrowth. Acetylene reduction by chilled plants was insensitive to temperature in the 5 – 15 °C range, unlike the temperature dependence of respiration and H2 evolution in air. In all temperature profiles of RE the RE was highest at 5 – 10 °C. The RE was minimum 10 – 15 °C during the rest period. The optimum temperature for whole plant net photosynthesis also declined to 10 – 15 °C during chilling and it later flattened out in the cold-acclimated regrowth. Possible mechanisms are discussed.
Superoxide dismutases in nodules of leguminous plants
Authors: Becana Manuel , Salin Marvin L.
Published: October 2007

Isoenzymic composition of superoxide dismutases (SODs; EC 1.15.1.1) of legume nodules has been examined by using polyacrylamide gel electrophoresis. The study reveals that Cu plus Zn–SODs and Mn–SODs are widespread in the plant and bacteroidal fractions of nodules, respectively. The number of CuZn–isoenzymes, however, depends on the legume species: three or four in Lupinus, three in Phaseolus, two in Vigna, and one in Glycine, Trifolium, Pisum, and Medicago. The nodule plant fraction also exhibits Mn–SOD activity, which is, at least in Medicago, of plant origin. Two Mn–isoenzymes are present in most bacteroids as well as in all slow-growing rhizobia, but just one was observed in fast-growing rhizobia. Fe–SOD has not been found in free-living or symbiotic rhizobia. A faint CuZn–SOD activity was detected in the bacteroid fraction of Phaseolus, Trifolium, Lupinus, and Vigna. The high content and complex pattern of SOD isoenzymes in the host cells and bacteroids (despite their relatively anaerobic environment) indicate a substantial production of [Formula: see text] in nodules in vivo, and the necessity for nitrogenase and leghemoglobin protection.
Differentiation of bud meristems and cataphylls during adventitious bud formation on embryos of Picea abies
Authors: Arnold Sara Von , Hawes Chris
Published: October 2007

Embryos of Picea abies were pulse-treated with benzyladenine for 24 h and then cultured on medium lacking growth regulators. Meristemoids developed on all embryos during the 2nd week after the cytokinin treatment. Cells within the meristemoids divided randomly. As the meristemoids developed, further cell divisions became more organized so that separate regions of meristematic activity could be distinguished within each meristemoid. These meristematic regions developed into individual nodules and each nodule developed further into either a bud meristem or a cataphyll. Cataphylls were composed of unorganized, vacuolated, thick-walled cells whereas bud meristems were composed of organized meristematic cells. Later, xylem elements developed at the base, and needle primordia at the top of bud meristems. The bud apex had cytohistological zonation typical of conifers. The appearance of the developing adventitious buds depended on the number of cataphylls formed per bud as well as on the marginal expansion of the cataphylls.
Photosynthesis in an open field for exotic versus native vines of the southeastern United States
Authors: Carter Gregory A. , Teramura Alan H. , Forseth Irwin N.
Published: October 2007

The potential importance of leaf gas exchange to the prolific growth characteristics of the exotic vines Pueraria lobata and Lonicera japonica versus the native vines Rhus radicans, Parthenocissus quinquefolia, Vitis vulpina, and Clematis virginiana was evaluated. Under high irradiance and low leaf-air water vapor pressure difference, photosynthesis was similar (23 – 27 μmol∙m−2∙s−1) among species with the exception of R. radicans (16 μmol∙m−2∙s−1). Conductance and transpiration were greater in Pueraria lobata than in the other species. When the leaf-air vapor pressure difference was high (4.0 kPa) photosynthesis in the exotic vines decreased more than in several of the native species. Photosynthesis in L. japonica and Parthenocissus quinquefolia, and to a lesser extent in Pueraria lobata, was reduced by high vapor pressure differences even though internal CO2 partial pressures remained relatively high, suggesting a nonstomatal reduction of photosynthetic capacity. Thus, the highly prolific growth typical of the exotic vines may not be attributable to greater steady-state photosynthesis.
Ion behavior in plant cell walls. II. Measurement of the Donnan free space, anion-exclusion space, anion-exchange capacity, and cation-exchange capacity in delignified Sphagnum russowii cell walls
Authors: Richter Conrad , Dainty Jack
Published: October 2007

Isolated delignified cell walls from Sphagnum russowii Warnsdorf were incubated in various chloride salt solutions at neutral pH (pH 7 – 8), and ion sorption was measured directly by neutron activation analysis. The anion-exchange capacity was estimated to be 63 – 66 μequiv./g dry weight of wall material in the protonated form. The volume of the anion-exclusion space was 2.63 ± 0.21 (± SD, n = 3) and 1.65 ± 0.35 (± SD, n = 2) mL/g dry weight in NaCl and CaCl2, respectively. A novel approach to measure the Donnan free space is proposed: for walls equilibrated in a salt mixture containing 10 mequiv./L NaCl and 10 mequiv./L CaCl2, the Na+ ions can be considered "uncondensed" in the Manning sense. From the Donnan relationship for Na+ and Cl− ions in the internal and external phases, the Donnan free space was calculated to be 1.77 mL/g dry weight. Titrating walls from pH 2.1 to 9.1 in the presence of 10 mequiv./L NaCl and 10 mequiv./L CaCl2 revealed a maximum cation-exchange capacity above pH 6 of ca. 1900 μequiv./g dry weight. This corresponds to a fixed anionic charge concentration in the Donnan free space of 1.1 M. Key words: ion exchange, cell wall, Donnan free space.
The contemporary moss assemblages of a high arctic upland, northern Ellesmere Island, N.W.T., Canada
Authors: LaFarge-England Catherine
Published: October 2007

A quantitative analysis of contemporary moss assemblages is presented for a fault block at the southern end of Piper Pass, northern Ellesmere Island, N.W.T. (82°12′N, 68°31′W). Twenty-eight stands are analyzed using the two-way indicator species analysis, resulting in seven major species groups and five major stand groups. Physical parameters correlated with the stand data show soil moisture and slope to be the most important factors influencing the distribution of moss assemblages. Sodium, organic content, and specific conductivity are also correlated with the vegetation data. Detrended correspondence analysis confirms these stand relationships. The interdependence of physical, chemical, and vegetation data is also discussed. Distribution patterns of the species groups within the stand groups are analyzed by means of a percent frequency diagram. A direct gradient analysis of the vegetation below a late-lying snowbank also demonstrates the selective distribution of species in terms of environmental gradients.
Light quality and sun tracking in Malva neglecta
Authors: Fisher F J. F. , Ehret D. L. , Lister G. R. , Hollingdale J.
Published: October 2007

Two distinct spectral components were found to be necessary to produce solar-tracking movements of the leaves of Malva neglecta: a small blue vectorial component with a quantum flux as low as 10 μmol∙m−2∙s−1 was found to be sufficient to determine the direction of movement, but responses do not take place unless additional radiation (regardless of spectral quality or direction) raise the total photosynthetically active component above the current light compensation point (70 μmol∙m−2∙s−1). This additional radiation could be given simultaneously or in an immediately preceding light treatment.
Contrasting responses of lichens and Vaccinium angustifolium to long-term acidification of a boreal forest ecosystem
Authors: Scott Martha G. , Hutchinson Thomas C. , Feth Marilyn J.
Published: October 2007

Over a 5-year period, we investigated the effects of simulated acidic precipitation on boreal forest understory species. Percent cover, net photosynthetic rate, and growth of three species of subarctic lichens were evaluated. Throughout the growing season, Cladina stellaris, Cladina rangiferina, and Cladina mitis, along with the associated vascular perennial, Vaccinium angustifolium, received twice-monthly sprays of artificial rain adjusted to pH 5.6, 4.0, 3.5, 3.0, or 2.5 using a 2:1 ratio of sulfuric to nitric acids. Changes in percent cover of the flora in permanent plots were measured annually during treatment years and then for a 6th year to monitor postspray recovery. Following 5 years of spraying, combined cover values for the three lichen species had decreased by up to 27% in plots sprayed with rain of less than pH 4.0, while percent cover of V. angustifolium had increased by 55 %. Although losses in net photosynthesis of 65% occurred for lichens receiving rains of pH 2.5, differences were not significant and data were highly variable. However, increasing acidity of the sprays significantly suppressed mean podetial height and dry weight of C. stellaris and C. mitis. The effect on these lichens of shading by the potential competitor V. angustifolium was investigated in a companion study, and it was concluded that the growth suppression of C. stellaris was most likely related to rainfall acidity and not to light attenuation. Cladina mitis was more sensitive to low light levels. Although adversely affected by rain of pH 2.5, C. rangiferina showed stimulation of a number of growth parameters in plots sprayed with rain of pH 3.0. It was concluded that responses of boreal understory species are variable and complex, and that several species (i.e., C. rangiferina and V. angustifolium) are tolerant of rainfall of less than pH 3.5.
An investigation of the taxonomy of Hordeum capense and H. secalinum (Poaceae: Triticeae)
Authors: Baum Bernard R. , Bailey L. Grant
Published: October 2007

That Hordeum capense, a South African species, and H. secalinum, a mainly European species, are conspecific, has been the prevailing view for the last 80 years because of a lack of distinguishing markers. In the present paper, morphological separability is demonstrated by means of cluster analysis, classificatory discriminant analysis, logistic discrimination, and canonical discriminant analysis. The performance of the linear classification functions are evaluated by the bootstrap and discussed. Lodicules and epiblasts were found to be good distinguishing markers. The nomenclatural type of H. secalinum has been designated as lectotype instead of the previously designated neotype.
Variation of CNV distribution in five different ethnic populations
Authors: White S.J. , Vissers L.E.L.M. , Geurts van Kessel A. , de Menezes R.X. , Kalay E. , Lehesjoki A.E. , Giordano P.C. , van de Vosse E. , Breuning M.H. , Brunner H.G. , den Dunnen J.T. , Veltman J.A.
Published: October 2007

Recent studies have revealed a new type of variation in the human genome encompassing relatively large genomic segments (∼100 kb–2.5 Mb), commonly referred to as copy number variation (CNV). The full nature and extent of CNV and its frequency in different ethnic populations is still largely unknown. In this study we surveyed a set of 12 CNVs previously detected by array-CGH. More than 300 individuals from five different ethnic populations, including three distinct European, one Asian and one African population, were tested for the occurrence of CNV using multiplex ligation-dependent probe amplification (MLPA). Seven of these loci indeed showed CNV, i.e., showed copy numbers that deviated from the population median. More precise estimations of the actual genomic copy numbers for (part of) the NSF gene locus, revealed copy numbers ranging from two to at least seven. Additionally, significant inter-population differences in the distribution of these copy numbers were observed. These data suggest that insight into absolute DNA copy numbers for loci exhibiting CNV is required to determine their potential contribution to normal phenotypic variation and, in addition, disease susceptibility.
Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15→q21
Authors: Hansen M. , Knorr C. , Hall A.J. , Broad T.E. , Brenig B.
Published: October 2007

The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in horses. An equine BAC clone harboring the SLC26A2 gene was isolated. The complete 142,625 bp insert sequence of this clone was determined by transposon sequencing. Together with the SLC26A2 gene the BAC clone contains four genes, i.e. the macrophage colony stimulating factor 1 receptor precursor (CSF1R), KIAA0194 protein gene similar to the SMF protein (KIAA0194), a tigger transposable element derived 14 (TIGD14), the 3′-5′-cyclic GMP phosphodiesterase alpha-chain (EC 3.1.4.35) and one unidentified open reading frame. The equine SLC26A2 gene encompassing 6,152 bp consists of two exons. The complete open reading frame of 2,211 bp encodes a protein of 736 amino acids. A comparison of the amino acid sequence with other mammalian orthologs revealed homologies with identity in a range between 80% and 88%. By contrast, the equine SLC26A2 protein lacks five C-terminal amino acids. Four single nucleotide polymorphisms (SNP) were identified (three synonymous and one non-synonymous variant Ser210Leu) in the coding region by comparative sequencing of 50 DNA samples representing the German Riding horse. Allele frequencies and distribution were further evaluated in a variety of different breeds: Arabians (for all four SNPs), Old Kladrub Horses, Draught Horses (including Westphalian Draught Horses, Rheinish Westphalian Draught Horses, Saxon-Thuringia Coldbloods, Altmärker Coldbloods), American Saddlebreds, Miniature Horses, Australian Riding Ponies, Appaloosa, Morgan Horses, and Lipizzaner for C629T (Ser210Leu) alone. No animal carrying the homozygous genotype TT has been detected. The overall frequency of the newly described variant T is low (between 2% and 6%). Simulation studies on the protein conformation predict structural protein changes mediated by the SNP.
Cytogenetic mapping of eight genes encoding fatty acid binding proteins (FABPs) in the pig genome
Authors: Szczerbal I. , Chmurzynska A. , Switonski M.
Published: October 2007

In the present study cytogenetic localization of eight fatty acid binding protein genes in the pig genome was shown. BAC clones, containing sequences of selected genes (FABP1, FABP2, FABP3, FABP4, FABP5, FABP6, FABP7 and FABP8) were derived from porcine BAC libraries and mapped by FISH to porcine chromosomes (SSC) 3q12, 8q25, 6q26, 4q12, 4q12, 16q22, 1p22 and 4q12, respectively. Detailed analyses of regions containing gene clusters (FABP4, FABP5, FABP8) in chromosome 4 were performed and their order was established. It was shown that these three genes are located beyond the FAT1 region. Assignment of the FABP genes to chromosome regions harboring quantitative trait loci (QTL) for fat deposition is discussed.
Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the ‘trisomy 1q42→qter syndrome’
Authors: Coccé M.C. , Villa O. , Obregon M.G. , Salido M. , Barreiro C. , Solé F. , Gallego M.S.
Published: October 2007

We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, triangular face, prominent forehead, broad nasal bridge, abnormal philtrum, micro/retrognathia, cardiac defects and mental retardation. We would like to emphasize the importance of the FISH technique in the identification of the duplicated segment.
Eight Novel Mutations of ATP2C1 Identified in 17 Chinese Families with Hailey-Hailey Disease
Authors: Zhang Furen , Yan Xiaoxiao , Jiang Deke , Tian Hongqing , Wang Changyuan , Yu Long
Published: October 2007

Background: Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited dermatosis, characterized by persistent blisters and erosions of the skin. It was recently discovered that HHD was caused by mutations in the ATP2C1 gene, a Ca2+ pump located in the Golgi apparatus. Observation: In this study, we sequenced the ATP2C1 gene from blood samples of 31 patients in 17 unrelated Chinese families and 120 healthy individuals. Eight novel mutations were identified in 9families, including 3 insertion/deletions (nt 1464–1487/1462–1485 del, 1523 del AT, 2375 del TTGT), 3 splicing-site mutations [360(–2)a→g, 1415(–2)a→c, 2243(+2)t→c], and 2 missense mutations (P307L, D648Y). Conclusion: Eight mutations were found in 8 unrelated families and 1 sporadic case, and these new findings have further improved our understanding of the role of ATP2C1 in HHD.
Dermatoporosis: A Chronic Cutaneous Insufficiency/Fragility Syndrome
Authors: Kaya Gürkan , Saurat Jean-Hilaire
Published: October 2007

Background: Skin aging has long been considered only as a cosmetic problem. With the increase in lifespan, we are now more often experiencing a further dimension of skin aging, which is no longer only cosmetic, but also functional, in the sense that the skin has lost its protective mechanical function. Dermatoporosis is the name proposed to capture, in a holistic approach, all the aspects of this chronic cutaneous insufficiency/fragility syndrome. Observations: In this paper, we review the clinical aspects of dermatoporosis, its histological features and the current understanding of its etiological factors. The clinical manifestations of dermatoporosis comprise (i) morphologicalmarkers of fragility – rather trivial – such as senile purpura, stellate pseudoscars and skin atrophy, and (ii) functional expression of skin fragility resulting from minor traumas such as frequent skin laceration, delayed wound healing, nonhealing atrophic ulcers and subcutaneous bleeding with the formation of dissecting hematomas leading to large zones of necrosis. Dissecting hematomas bear significant morbidity needing hospitalization and urgent surgical procedures. Molecular mechanisms implying hyaluronate-CD44 pathways in the control and maintenance of epithelial growth and the viscoelastic properties of the extracellular matrix offer new opportunities for preventive intervention. Conclusion: We propose to group the different manifestations and implications of this syndrome under the umbrella term of ‘dermatoporosis’,because we think it will helpto capture the understanding of health professionals that, as osteoporosis, ‘dermatoporosis’should be prevented and treated to avoid complications. Dermatologists should be aware of this emerging syndrome and function as key players in prevention and therapy. Randomized clinical trials should demonstrate which intervention may best prevent and/or reverse dermatoporosis.
Living with Acne
Authors: Pawin Henry , Chivot Martine , Beylot Claire , Faure Michel , Poli Florence , Revuz Jean , Dréno Brigitte
Published: October 2007

Background: Acne can have important psychological repercussions. Objectives: We studied adolescents’ perceptions of acne, in a nonmedical context. Methods: Between November 2004 and January 2005, a questionnaire was presented to adolescents calling a youth helpline. It focused on perceptions of acne and, among callers with personal experience of acne, its severity and treatment. Callers were divided into those with acne, those having had acne and those never having had acne. Results: The questionnaire was completed by 1,566 callers. It showed that 51% of respondents with acne did not seek medical help; acne has as big a psychological impact as some far severer diseases; many respondents with no history of acne said they were very worried that they would develop this skin disorder. Conclusions: This study underlines the major psychological impact of acne. Young people need to be informed that acne can be treated.
Pulse Corticosteroid Therapy for Alopecia Areata: Study of 139 Patients
Authors: Nakajima Takeshi , Inui Shigeki , Itami Satoshi
Published: October 2007

Background/Aim: Recent reports of pulse corticosteroid therapy for alopecia areata (AA) show its efficacy for patients with a history of ≤1 year but not for recalcitrant cases or alopecia totalis/universalis. The purpose of this study was to evaluate the efficacy and safety of pulse corticosteroid therapy for recent-onset AA patients. Method: A total of 139 severe AA patients aged >15 years were included in this study. The duration from the onset of active hair loss was within 12 months for 125 (89.9%) of those patients. Results: Of the patients, 72.7% had hair loss on >50% of their scalp area. Among the recent-onset group (duration of AA ≤6 months), 59.4% were good responders (>75% regrowth of alopecia lesions), while 15.8% with >6 months duration showed a good response. Recent-onset AA patients with less severe disease (≤50% hair loss) responded at a rate of 88.0%, but only 21.4% of recent-onset patients with 100% hair loss responded. No serious adverse effects were observed.
The Reduced Impact of Psoriasis Questionnaire Has Good Psychometric Properties in Italian Patients
Authors: Nijsten Tamar , Sampogna Francesca , Stern Robert S. , Abeni Damiano
Published: October 2007

Background: A recent refinement study suggested that a Rasch reduced version of the Impact of Psoriasis Questionnaire (IPSO) of 11 items most adequately assessed the psychosocial impact of US psoriasis patients. Objective: To test whether the IPSO would also behave well in a different population that varies culturally, demographically, and in disease severity. Methods: The psychometric properties of the IPSO, using classical test and item response theory (Rasch analysis), were assessed in 805 Italian psoriasis patients. Results: Patients with more severe psoriasis reported significantly higher impact on their HRQOL (p < 0.001) and the IPSO correlated well with the Skindex-29 (r = 0.74) confirming its validity. The response distribution was adequate for all items, except item 9. The Cronbach’s alphas were excellent and the high item-rest correlations confirmed its homogeneity. Principal component analysis demonstrated one dominant factor with an eigenvalue of 4.47 (items loading >0.40). Overall, the 11 IPSO items fitted the Rasch model (p = 0.07) and all items demonstrated a logical threshold order. Of the 11 items, 2 items showed significant individual misfit and only 1 item demonstrated significant differential item functioning for age but none for gender or global severity score. Conclusion: The 11-item IPSO is a valuable psoriasis-specific HRQOL instrument in different populations.
The Diagnostic Accuracy of in vivo Confocal Scanning Laser Microscopy Compared to Dermoscopy of Benign and Malignant Melanocytic Lesions: A Prospective Study
Authors: Langley Richard G.B. , Walsh Noreen , Sutherland Ashley E. , Propperova Iva , Delaney Laura , Morris Steven F. , Gallant Christopher
Published: October 2007

Background: The diagnosis of melanoma at an early, curable stage is an important challenge for clinicians. Confocal scanning laser microscopy (CSLM) is a high-resolution, noninvasive technology that may facilitate improved diagnostic accuracy over clinical examination. The aim of this study was to evaluate the diagnostic accuracy of CSLM compared to dermoscopy in a prospective examination of benign and malignant melanocytic lesions. Methods: 125 patients with suspicious pigmented lesions were prospectively recruited to undergo a clinical, dermoscopic and CSLM examination. A diagnosis was made preoperatively with each technique, and the lesion was then excised and diagnosed using histopathology. Results: 125 patients with 125 lesions were studied comprising 88 melanocytic nevi and 37 melanomas. Dermoscopy had a sensitivity of 89.2%, a specificity of 84.1%, a positive predictive value of 70.2% and a negative predictive value of 94.9%. CSLM was found to have a sensitivity of 97.3%, a specificity of 83.0%, a positive predictive value of 70.6% and a negative predictive value of 98.6%. No melanomas were misidentified when both techniques were used together. Conclusions: CSLM had a relatively higher sensitivity than dermoscopy; however, the specificity was similar with CSLM and dermoscopy. These results suggest that dermoscopy and CSLM are complementary.
Waist Circumference Is Strongly Associated with Renal Resistive Index in Normoalbuminuric Patients with Type 2 Diabetes
Authors: Lamacchia Olga , Nicastro Vincenzo , Camarchio Donatella , Stallone Giovanni , Gesualdo Loreto , Cignarelli Mauro
Published: October 2007

Objective: Anthropometric parameters may play a role in modulating the risk of kidney dysfunction. The aim of this study was to evaluate whether anthropometric indices and the metabolic syndrome are associated with alterations of the renal resistive index (RI) in normoalbuminuric type 2 diabetic (T2DM) patients. Methods: A sample of 99 consecutively recruited patients with T2DM (76 male and 23 female) was examined. The RI was assessed by duplex Doppler sonography. Results: In univariate analysis, a significant association between the RI values and age (r = 0.507, p < 0.0001), gender (being higher in women, p = 0.002), systolic blood pressure (r = 0.285, p = 0.011), smoking habit (being lower in current smokers, p = 0.047), estimated glomerular filtration rate (r = –0.435, p < 0.0001), and intima-media thickness of the carotid arteries (r = 0.271, p = 0.020) was observed. As far as anthropometric parameters are concerned, a strong correlation between waist circumference (WC; r = 0.401, p < 0.0001), BMI (r = 0.337, p = 0.003) and RI values was found but only WC maintained a significant correlation after adjusting for several confounders (p = 0.001). Conclusions: In normoalbuminuric T2DM patients, the intrarenal hemodynamic abnormalities seem primarily associated with WC.
CD39/Ectonucleoside Triphosphate Diphosphohydrolase 1 Provides Myocardial Protection During Cardiac Ischemia/Reperfusion Injury
Authors: Köhler David , Eckle Tobias , Faigle Marion , Grenz Almut , Mittelbronn Michel , Laucher Stefanie , Hart Melanie L. , Robson Simon C. , Müller Christa E. , Eltzschig Holger K.
Published: October 2007

Background—

Extracellular adenosine, generated from extracellular nucleotides via ectonucleotidases, binds to specific receptors and provides cardioprotection from ischemia and reperfusion. In the present study, we studied ecto-enzymatic ATP/ADP-phosphohydrolysis by select members of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family during myocardial ischemia.

Methods and Results—

As a first step, we used a murine model of myocardial ischemia and in situ preconditioning and performed pharmacological studies with polyoxometalate 1, a potent E-NTPDase inhibitor (Na
6
[H
2
W
12
O
40
]). Polyoxometalate 1 treatment increased infarct sizes and abolished beneficial effects of preconditioning. To define relative contributions of distinct E-NTPDases, we investigated transcriptional responses of E-NTPDases 1 to 3 and 8 to preconditioning. We noted robust and selective induction of E-NTPDase 1 (CD39) transcript and protein. Histological analysis of preconditioned myocardium localized CD39 induction to endothelia and myocytes.
Cd39
−/−
mice exhibited larger infarct sizes with ischemia (
cd39
+/+
43.0±3.3% versus
cd39
−/−
52%±1.8;
P
<0.05), and cardioprotection was abrogated by preconditioning (
cd39
+/+
13.3%±1.5 versus
cd39
−/−
50.5%±2.8;
P
<0.01). Heightened levels of injury after myocardial ischemia and negligible preconditioning benefits in
cd39
−/−
mice were corrected by infusion of the metabolic product (AMP) or apyrase. Moreover, apyrase treatment of wild-type mice resulted in 43±4.2% infarct size reduction (
P
<0.01).

Conclusions—

Taken together, these studies reveal E-NTPDase 1 in cardioprotection and suggest apyrase in the treatment of myocardial ischemia.
Persistent Cardiac Troponin I Elevation in Stabilized Patients After an Episode of Acute Coronary Syndrome Predicts Long-Term Mortality
Authors: Eggers Kai M. , Lagerqvist Bo , Venge Per , Wallentin Lars , Lindahl Bertil
Published: October 2007

Background—

In patients with non–ST-elevation acute coronary syndrome, any troponin elevation is associated with an increased risk for cardiovascular events. However, the prevalence and prognostic importance of persistent troponin elevation in stabilized patients after an episode of non–ST-elevation acute coronary syndrome are unknown and were therefore assessed in this study.

Methods and Results—

Cardiac troponin I (cTnI) was measured in 1092 stabilized patients at 6 weeks and 3 and 6 months after enrollment in the FRagmin and Fast Revascularization during InStability in Coronary artery disease (FRISC-II) trial. cTnI was analyzed with the Access AccuTnI assay with the application of different prognostic cutoffs. Outcomes were assessed through 5 years. Elevated cTnI levels >0.01 μg/L were found in 48% of the study patients at 6 weeks, in 36% at 6 months, and in 26% at all 3 measurements. cTnI elevation was associated with increased age and other cardiovascular high-risk features. The lowest tested cTnI cutoff (0.01 μg/L) was prognostically most useful and was independently predictive of mortality (hazard ratio, 2.1 [95% confidence interval, 1.3 to 3.3];
P
=0.001) on multivariable analysis adjusted for cardiovascular risk factors and randomization to an invasive versus noninvasive treatment strategy, whereas it was related to myocardial infarction only on univariate analysis.

Conclusions—

Persistent minor cTnI elevation can be detected frequently in patients stabilized after an episode of non–ST-elevation acute coronary syndrome with the use of a sensitive assay. Elevated cTnI levels >0.01 μg/L predict mortality during long-term follow-up. Our results emphasize the importance of further troponin testing in non–ST-elevation acute coronary syndrome patients after hospital discharge.
Fibroblast Growth Factor 1 Gene and Hypertension
Authors: Tomaszewski Maciej , Charchar Fadi J. , Lynch Mark D. , Padmanabhan Sandosh , Wang William Y.S. , Miller William H. , Grzeszczak Wladyslaw , Maric Christine , Zukowska-Szczechowska Ewa , Dominiczak Anna F.
Published: October 2007

Background—

The distal portion of the long arm of chromosome 5 is linked to hypertension and contains functional candidate blood pressure–regulating genes.

Methods and Results—

Tightening the grid of microsatellite markers under this quantitative trait locus in the Silesian Hypertension Study (629 individuals from 207 Polish hypertensive families) provided enhanced support for linkage of this region to blood pressure (maximal
Z
=3.51,
P
=0.0002). The fine mapping, comparative genomics, and functional prioritization identified fibroblast growth factor 1 gene (FGF1) as the positional candidate. Linkage disequilibrium mapping based on 51 single nucleotide polymorphisms spanning the locus showed no overlap between 3 independent haploblocks of FGF1 and the adjacent extragenic chromosomal regions. Single and multilocus family-based analysis revealed that genetic variation within FGF1 haploblock 1 was associated with hypertension and identified a common intronic single nucleotide polymorphism, rs152524, as the major driver of this association (
P
=0.0026). Real-time quantitative polymerase chain reaction and Western blotting analysis of renal tissue obtained from subjects undergoing unilateral nephrectomy showed an increase in both mRNA and protein FGF1 expression in hypertensive patients compared with normotensive controls. Renal immunohistochemistry revealed that FGF1 was expressed exclusively within the glomerular endothelial and mesangial cells.

Conclusions—

Our data demonstrate that genetic variation within FGF1 cosegregates with elevated blood pressure in hypertensive families and that this association is likely to be mediated by upregulation of renal FGF1 expression. The results of our study will need to be replicated in other cohorts.
Absence of Peroxisome Proliferator-Activated Receptor-α Abolishes Hypertension and Attenuates Atherosclerosis in the Tsukuba Hypertensive Mouse
Authors: Tordjman Karen M. , Semenkovich Clay F. , Coleman Trey , Yudovich Rachel , Bak Stella , Osher Etty , Vechoropoulos Michal , Stern Naftali
Published: October 2007

Peroxisome proliferator-activated receptor-α is widely distributed in the vasculature where it is believed to exert pleiotropic antiatherogenic effects. Its role in the regulation of blood pressure is still unresolved; however, some evidence suggests that it may affect the renin-angiotensin system. We investigated its role in angiotensin II–induced hypertension in the Tsukuba hypertensive mouse (THM). This is a model of hypertension and atherosclerosis because of high angiotensin II and aldosterone levels as a result of the transgenic expression of the entire human renin-angiotensin system. Making the THM animals deficient in Peroxisome proliferator-activated receptor-α (THM/PPARKO) totally abolished hypertension and myocardial hypertrophy. This was accompanied by a reduction in plasma human active renin in THM/PPARKO mice compared with THM animals from 3525±128 mU/L to 1910±750 mU/L (
P
<0.05) and by a normalization of serum aldosterone (1.6±0.29 nmol/L versus 3.4±0.69 nmol/L;
P
=0.003). In the THM/PPARKO mice, the extent of atherosclerosis at the aortic sinus after a 12-week period on an atherogenic diet was decreased by >80%. In addition, the spontaneous formation of foam cells from peritoneal macrophages, a blood pressure–independent event, was reduced by 92% in the THM/PPARKO mice, suggesting protection from the usual oxidative stress in these animals, possibly because of lower prevailing angiotensin II levels. Finally, chronic fenofibrate treatment further elevated blood pressure in THM animals but not in THM/PPARKO animals. Taken together, these data indicate that peroxisome proliferator-activated receptor-α may regulate the renin-angiotensin system. They raise the possibility that its activation may aggravate hypertension and hasten atherosclerosis in the context of an activated renin-angiotensin system.