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Dominant Form (dominant + form)
Kinds of Dominant Form Selected AbstractsNesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle developmentDEVELOPMENTAL DYNAMICS, Issue 3 2010K. Natalie Randles Abstract Nesprins are a family of nuclear transmembrane proteins anchored via Sun proteins to the nuclear membrane. Analysis of nesprins during human muscle development revealed an increase in nesprin-1-giant during early myogenesis in vitro. During the transition from immature to mature muscle fibres in vivo, nesprin-2 partly replaced nesprin-1 at the nuclear envelope and short nesprin isoforms became dominant. Sun1 and Sun2 proteins remained unchanged during this fibre maturation. In emerin-negative skin fibroblasts, nesprin-2-giant was relocated from the nuclear envelope to the cytoplasm, not to the endoplasmic reticulum, while nesprin-1 remained at the nuclear envelope. In emerin-negative keratinocytes lacking nesprin-1, nesprin-2 remained at the nuclear envelope. HeLa cell nuclear envelopes lacked nesprin-1, which was the dominant form in myoblasts, while a novel 130-kD nesprin-2 isoform dominated Ntera-2 cells. The results suggest the possibility of isoform-specific and tissue-specific roles for nesprins in nuclear positioning. Developmental Dynamics 239:998,1009, 2010. © 2010 Wiley-Liss, Inc. [source] Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12EPILEPSIA, Issue 9 2010José Morales-Corraliza Summary Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant form of partial epilepsy characterized by the presence of epileptic seizures originating from different cerebral lobes in different members of the same family. Linkage to chromosomes 22q12 and 2q36 has been reported, although only six families have been published. We studied a new FPEVF family including nine affected individuals. The phenotype in this family was similar to that previously described and consisted of nocturnal and daytime seizures with semiology suggesting a frontal lobe origin. A video-EEG (electroencephalography) recording of the proband's seizures is presented and revealed hyperkinetic seizures of frontal lobe origin preceded by left frontal spikes. We excluded linkage to chromosome 2q36 and found a suggestion of linkage to chromosome 22q12 with a lod score of 2.64 (, = 0) for marker D22S689. [source] Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): a family with frontotemporal dementia with Parkinsonism linked to chromosome 17EUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2001C. A. McRae The specific mutation on the tau gene responsible for a neurodegenerative disease known as pallido-ponto-nigral degeneration (PPND) was recently located. PPND family members are at risk for an autosomal dominant form of frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17). This study investigated whether individuals in this family would consider presymptomatic genetic testing. Surveys were sent to 66 at-risk individuals in the family; replies were received from 20 (30%). Family members were asked if they would consider having testing now or in the future, and to indicate their reasons for and against proceeding with testing. Fifty per cent (n=10) of those who were at risk and who responded indicated they would consider testing now, and 55% (n=11) would think about it in the future. The most frequently cited reasons to proceed with testing were to ,collaborate with research' (70%) and to ,know if my children are at risk' (45%). The most frequently cited reason not to pursue testing was ,I can enjoy my life more fully by not knowing' (50%). Results suggest that interest in determining whether they will manifest PPND is generally low among at-risk members of this family, despite wide support and participation in other research studies. [source] Lime and cow slurry application temporarily increases organic phosphorus mobility in an acid soilEUROPEAN JOURNAL OF SOIL SCIENCE, Issue 3 2007P. N. C. MurphyArticle first published online: 13 OCT 200 Summary Phosphorus loss from agricultural soils to water is recognized as a major contributor to eutrophication of surface water bodies. There is much evidence to suggest that liming, a common agricultural practice, may decrease the risk of P loss by decreasing P solubility. An unsaturated leaching column experiment, with treatments of control and two lime rates, was carried out to investigate the effects of liming on P mobility in a low-P acid Irish soil, which was sieved and then packed in columns. Phosphorus was applied at the soil surface in the form of KH2PO4 in solution or as cow slurry. Soil solution was sampled at time intervals over depth and analysed for P fractions. Organic P (OP) was the dominant form of P mobile in soil solution. Liming increased OP mobility, probably through increased dispersion of OP with increased pH. Slurry application also increased OP mobility. Results indicated the potential for OP loss following heavy (100 m,3 ha,1) cow slurry application, even from low-P soils, and suggested that liming may increase this risk. Reactive P (RP) was sorbed strongly and rapidly by the soil and did not move substantially below 5 cm depth. As a result, Olsen-P values in the top 2 cm were greatly increased, which indicates an increased risk of RP loss in overland flow. Lime showed little potential as a soil amendment to reduce the risk of P loss. [source] The processing and utilization of hepatocyte growth factor/scatter factor following partial hepatectomy in the ratHEPATOLOGY, Issue 4 2001Peter Pediaditakis Hepatocyte growth factor/scatter factor (HGF/SF) is a pluripotent growth factor capable of acting as a motogen, a morphogen, and a mitogen. Originally, HGF/SF was found as a blood-borne mitogen for hepatocytes and has since been determined to be very important in liver repair. Previous studies have established that HGF/SF must be proteolytically cleaved to elicit its effects. After liver injury by toxins such as carbon tetrachloride or after surgical resection, partial hepatectomy (PHX), HGF/SF concentrations increase in the blood. The aims of this study were to examine (1) which form of HGF/SF is present in the normal liver, (2) which form is present in the regenerating liver after PHX, and (3) if the HGF/SF used after PHX is derived from existing liver reservoirs. Both single-chain HGF/SF and active two-chain HGF/SF are present in normal liver, with the former being the dominant form. After PHX, the liver can be described as having two phases with regard to the use of endogenous HGF/SF. The first phase from 0 to 3 hours is the consumptive phase and is characterized by a decrease in both single-chain HGF/SF and active two-chain HGF/SF. The second phase is the productive phase. It is characterized by a pronounced reappearance of both single-chain HGF/SF as well as two-chain HGF/SF. The activation index shows a 5-fold increase over sham operations during the productive phase. The use of radiolabeled HGF/SF showed that during the first 3 hours, HGF/SF is used in part from hepatic stores. Furthermore, during the first 3 hours after PHX, only active two-chain HGF/SF is seen in the plasma. [source] Beyond the enterprise: trade union representation of freelances in the UKHUMAN RESOURCE MANAGEMENT JOURNAL, Issue 2 2004Edmund Heery Interest has grown in the methods that trade unions can use to organise and represent the substantial proportion of the workforce engaged in ,contingent work'. This article examines trade union representation of self-employed freelances in the UK. Empirical material is presented from case studies of the media and entertainment unions, with their long history of representing freelances, and more recently established unions representing freelance tour guides, interpreters and translators. The analysis indicates that there is a distinctive form of freelance unionism in the UK which is distinguished by its emphasis on organising and representing workers in the external labour market where they seek work and develop a mobile career. This orientation ,beyond the enterprise' distinguishes freelance unionism from the dominant form of unionism in Britain. [source] DFT study of polymorphism of the DNA double helix at the level of dinucleoside monophosphatesINTERNATIONAL JOURNAL OF QUANTUM CHEMISTRY, Issue 13 2010Valeri I. Poltev Abstract We apply DFT calculations to deoxydinucleoside monophosphates (dDMPs) which represent minimal fragments of the DNA chain to study the molecular basis of stability of the DNA duplex, the origin of its polymorphism and conformational heterogeneity. In this work, we continue our previous studies of dDMPs where we detected internal energy minima corresponding to the "classical" B conformation (BI-form), which is the dominant form in the crystals of oligonucleotide duplexes. We obtained BI local energy minima for all existing base sequences of dDMPs. In the present study, we extend our analysis to other families of DNA conformations, successfully identifying A, BI, and BII energy minima for all dDMP sequences. These conformations demonstrate distinct differences in sugar ring puckering, but similar sequence-dependent base arrangements. Internal energies of BI and BII conformers are close to each other for nearly all the base sequences. The dGpdG, dTpdG, and dCpdA dDMPs slightly favor the BII conformation, which agrees with these sequences being more frequently experimentally encountered in the BII form. We have found BII-like structures of dDMPs for the base sequences both existing in crystals in BII conformation and those not yet encountered in crystals till now. On the other hand, we failed to obtain dDMP energy minima corresponding to the Z family of DNA conformations, thus giving us the ground to conclude that these conformations are stabilized in both crystals and solutions by external factors, presumably by interactions with various components of the media. Overall the accumulated computational data demonstrate that the A, BI, and BII families of DNA conformations originate from the corresponding local energy minimum conformations of dDMPs, thus determining structural stability of a single DNA strand during the processes of unwinding and rewinding of DNA. © 2010 Wiley Periodicals, Inc. Int J Quantum Chem 110:2548,2559, 2010 [source] Comparing fecundity in parthenogenetic versus sexual populations of the freshwater snail Campeloma limum: is there a two-fold cost of sex?INVERTEBRATE BIOLOGY, Issue 1 2009Lisa T. Crummett Abstract. The predominance of sexuality in eukaryotes remains an evolutionary paradox, given the "two-fold cost of sex" also known as the "cost of males." [Correction added after online publication 29 January 2009: in the preceding sentence, extraneous words were deleted.] As it requires two sexual parents to reproduce and only one parthenogenetic parent, parthenogens should have twice the reproductive rate compared with their sexual counterparts and their genes should spread twice as fast, if all else is equal. Yet, parthenogenesis is relatively rare and considered an evolutionary dead-end, while sexuality is the dominant form of reproduction in multicellular eukaryotes. Many studies have explored short-term benefits of sex that could outweigh its two-fold cost, but few have compared fecundity between closely related sexuals and parthenogens to first verify that "all else is equal" reproductively. We compared six fecundity measures between sexual and parthenogenetic populations of the freshwater snail, Campeloma limum, during a brooding cycle (1 year) across two drainages. Drainages were analyzed separately because of a significant drainage effect. In the Savannah drainage, fecundity was not significantly different between sexuals and parthenogens, even though parthenogens had significantly more empty egg capsules per brood. In the Ogeechee drainage, parthenogens had significantly more egg capsules with multiple embryos and more hatched embryos than sexuals. Taken over 1 year, embryo size was not significantly different between parthenogens and sexuals in either drainage. Given these results and the close proximity of sexual and parthenogenetic populations, it is perplexing why parthenogenetic populations have not completely replaced sexual populations in C. limum. [source] Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange-Nielsen SyndromeJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 11 2006ILAN GOLDENBERG M.D. Introduction: Data regarding risk factors and clinical course of patients affected with Jervell and Lange-Nielsen syndrome (JLNS), an autosomal recesssive form of the congenital long-QT syndrome (LQTS), are limited to several reported cases and a retrospective analysis. Methods and Results: We prospectively followed-up 44 JLNS patients from the U.S. portion of the International LQTS Registry and compared their clinical course with 2,174 patients with the phenotypically determined dominant form of LQTS (Romano-Ward syndrome [RWS]) and a subgroup of 285 patients with type 1 LQTS (LQT1). Mean (±SD) corrected QT interval (QTc) in the JLNS, RWS, and LQT1 groups were 548 ± 73, 500 ± 48, and 502 ± 46 msec, respectively (P < 0.001). The cumulative rates of cardiac events from birth through age 40 among JLNS and RWS patients were 93% (mean [±SD] age: 5.0 ± 7.0 years) and 54% (mean [±SD] age: 14.2 ± 9.3 years), respectively (P < 0.001). The JLNS:RWS and JLNS:LQT1 adjusted hazard ratios (HR) for cardiac events were highest among patients with a baseline QTc ,550 msec (HR = 15.83 [P < 0.001] and 13.80 [P < 0.001], respectively). Among JLNS patients treated with beta-blockers, the cumulative probability of LQTS-related death was 35%; defibrillator therapy was associated with a 0% mortality rate during a mean (±SD) follow-up period of 4.9 ± 3.4 years. Conclusions: Patients with JLNS experience a high rate of cardiac and fatal events from early childhood despite medical therapy. Defibrillator therapy appears to improve outcome in this high-risk population, although longer follow-up is needed to establish its long-term efficacy. [source] Cutaneous histopathological findings of Aicardi,Goutières syndrome, overlap with chilblain lupusJOURNAL OF CUTANEOUS PATHOLOGY, Issue 8 2008Athanassios Kolivras We report a 2-year-old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis with fibrinoid necrosis and thrombi formation, both superficial and deep dermal lymphocytic infiltrate, lymphocytic eccrine hidradenitis and absence of marked dermal edema. Subsequent investigations suggested a clinical diagnosis of Aicardi,Goutières syndrome (AGS), a rare genetic leukoencephalopathy. Recently, both AGS and familial chilblain lupus, an autosomal dominant form of systemic lupus erythematosus (SLE), have been shown to be allelic thus suggesting a common pathogenic basis. In addition, a phenotypic overlap is apparent between SLE and AGS. To our knowledge, this is the first comprehensive dermatopathological report of the cutaneous lesions seen in AGS, and our paper highlights the importance of considering AGS in the differential diagnosis of perniosis and chilblain lupus. [source] The Lips of the Dead and the ,Kiss of Life': The Contemporary Deathbed and the Aesthetic of CPRJOURNAL OF HISTORICAL SOCIOLOGY, Issue 3 2002John Tercier Over the last four decades, cardiopulmonary resuscitation (CPR) has become the medical, legal and media standard for behaviour in the face of sudden death. The key therapeutic techniques of CPR: mouth,to,mouth ventilation, external,cardiac,compressions and defibrillation , with their origins in the eighteenth century, strange peregrinations in the nineteenth, and consolidation in the twentieth , are central to what may be seen as a newly dominant form of deathbed ritual. [source] Non-steroidal anti-inflammatory drugs (NSAIDs) inhibit vascular smooth muscle cell proliferation via differential effects on the cell cycleJOURNAL OF PHARMACY AND PHARMACOLOGY: AN INTERNATI ONAL JOURNAL OF PHARMACEUTICAL SCIENCE, Issue 4 2003Gavin Brooks ABSTRACT Abnormal vascular smooth muscle cell (VSMC) proliferation plays an important role in the pathogenesis of both atherosclerosis and restenosis. Recent studies suggest that high-dose salicylates, in addition to inhibiting cyclooxygenase activity, exert an antiproliferative effect on VSMC growth both in-vitro and in-vivo. However, whether all non-steroidal anti-inflammatory drugs (NSAIDs) exert similar antiproliferative effects on VSMCs, and do so via a common mechanism of action, remains to be shown. In this study, we demonstrate that the NSAIDs aspirin, sodium salicylate, diclofenac, ibuprofen, indometacin and sulindac induce a dose-dependent inhibition of proliferation in rat A10 VSMCs in the absence of significant cytotoxicity. Flow cytometric analyses showed that exposure of A10 cells to diclofenac, indometacin, ibuprofen and sulindac, in the presence of the mitotic inhibitor, nocodazole, led to a significant G0/G1 arrest. In contrast, the salicylates failed to induce a significant G1 arrest since flow cytometry profiles were not significantly different from control cells. Cyclin A levels were elevated, and hyperphosphorylated p107 was present at significant levels, in salicylate-treated A10 cells, consistent with a post-G1/S block, whereas cyclin A levels were low, and hypophosphorylated p107 was the dominant form, in cells treated with other NSAIDs consistent with a G1 arrest. The ubiquitously expressed cyclin-dependent kinase (CDK) inhibitors, p21 and p27, were increased in all NSAID-treated cells. Our results suggest that diclofenac, indometacin, ibuprofen and sulindac inhibit VSMC proliferation by arresting the cell cycle in the G1 phase, whereas the growth inhibitory effect of salicylates probably affects the late S and/or G2/M phases. Irrespective of mechanism, our results suggest that NSAIDs might be of benefit in the treatment of certain vasculoproliferative disorders. [source] Oxidative metabolism by Thalassiosira weissflogii (Bacillariophyceae) of a diol-ester of okadaic acid, the diarrhetic shellfish poisoningJOURNAL OF PHYCOLOGY, Issue 2 2000Anthony J. Windust Previous investigations into the comparative toxicity of the diarrhetic shellfish poisoning (DSP) toxins to Thalassiosira weissflogii (Grun.) Fryxell et Hasle found that this diatom oxidatively metabolized okadaic acid diol-ester (OA diol-ester) to a more water-soluble product. This oxidative transformation of OA diol-ester by the diatom is significant for two reasons. First, it is known that dinophysistoxin-4 (DTX-4), the primary DSP toxin produced by the dinoflagellate Exuviaella lima (Ehr.) Butschli, will be hydrolyzed to the diol-ester following cell rupture (e.g. ingestion by a predator). Second, it implies that the ester, an uncharged, lipophilic intermediate, can easily enter cells and therefore may play an important role in the uptake and transfer of DSP toxins through the food web. It has been suggested that the water soluble DTX-4 may also be the form in which DSP toxins are excreted from the producing cell. Therefore, the stability of DTX-4 was examined when incubated either in fresh seawater medium into which washed cells of E. lima were introduced or in seawater medium conditioned by E. lima cells. Rapid hydrolysis of DTX-4 to the diol-ester took place in both cases. Thus, regardless of the route by which DTX-4 is liberated from the cell, either by cell disruption or excretion, the diol-ester will be the dominant form of the toxin to challenge associated organisms. To examine the metabolism of OA diol-ester by T. weissflogii in more detail, serial cultures of the diatom were challenged with OA diol-ester at a concentration of 2.0 ,g·mL,1. The metabolism and fate of the diol-ester in both cellular and medium fractions were monitored over 3 days using liquid chromatography with either ultraviolet (LC-UV) or mass spectrometric (LC-MS) detection. During the course of the experiment, all of the diol-ester was metabolized. LC-MS analysis revealed the presence of multiple oxidative products of OA diol-ester in the medium fraction, including a carboxylic acid derivative. The major metabolites were isolated in sufficient quantity to permit structural elucidation by NMR and MS. All the metabolites identified resulted from oxidation of the diol-ester side chain with the primary sites of attack at the terminal, subterminal, and unsaturated carbons. OA was found in both cellular and medium fractions, and its production was directly correlated with the metabolism of the diol-ester. The relative partitioning of both OA diol-ester and its oxidation products between cells and medium supports the contention that OA diol-ester can readily enter cells, be metabolized, and then excreted in more water-soluble forms. [source] HIRNANTIAN (LATEST ORDOVICIAN) GRAPTOLITES FROM THE UPPER YANGTZE REGION, CHINAPALAEONTOLOGY, Issue 2 2005CHEN XU Abstract:, The Upper Yangtze region yields a Hirnantian (latest Ordovician) graptolite fauna that includes 41 species assigned to 13 genera. This fauna is particularly important for understanding the Late Ordovician mass extinction event because it is the most diverse known from this interval. In addition, it records the survival, well into the Hirnantian, of many taxa of the Dicranograptidae-Diplograptidae-Orthograptidae (DDO) fauna, which was previously regarded as having gone extinct at the beginning of the Hirnantian. Taxa exhibiting six different astogenetic patterns, including taxa with reclined stipes, scandent, biserial, full-periderm and ,archiretiolitid' rhabdosome forms occur in the lower Normalograptus extraordinarius-N. ojsuensis Biozone. In contrast, in the upper N. persculptus Biozone only four genera remain, all but one of which are Normalograptidae: scandent and biserial taxa with Pattern H astogeny. Normalograptids are the dominant form of the succeeding, lower Rhuddanian, faunas. The Yangtze faunas also document the early expansion of normalograptids coeval with the decline of the DDO fauna. Many previously identified species considered endemic to China have been synonymized; 24 of the 41 species recorded here have been recognized elsewhere. No new taxa are described. [source] Simultaneously improving the toughness, flexural modulus and thermal performance of isotactic polypropylene by ,-, crystalline transition and inorganic whisker reinforcementPOLYMER ENGINEERING & SCIENCE, Issue 2 2010Yewen Cao Magnesium salt (M-HOS) whisker and ,-nucleating agent were introduced into polypropylene and their effects on the crystalline structures, morphologies, mechanical properties, and thermal resistance of polypropylene (PP) were investigated. The results of wide angle X-ray diffraction (WAXD), differential scanning calorimetry (DSC), and polar optical microscopy (POM) examinations suggested that the presence of the whisker did not cause any negative effect on the occurrence of ,-modification, and ,-phase became absolutely dominant form in ,-nucleated samples. The mechanical and thermal properties tests demonstrated that there is an excellent synergy between the ,-nucleating agent and the whisker. For PP composite containing 0.1 wt% of the ,-nucleating agent and 10 wt% of the whiskers, the Izod notched impact strength, elongation at break, flexural modulus, and heat deflection temperature were increased by 108, 194, 31, and 40%, respectively, compared with those of neat PP. By combining the toughening effect of ,,, transition with the reinforcing effect of the whisker, simultaneous improvement in toughness, flexural modulus, and thermal performance of PP was successfully achieved. POLYM. ENG. SCI., 2009. © 2009 Society of Plastics Engineers [source] Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndromeTHE JOURNAL OF PHYSIOLOGY, Issue 2 2008Marko Bertog Liddle's syndrome is an autosomal dominant form of human hypertension, caused by gain-of-function mutations of the epithelial sodium channel (ENaC) which is expressed in aldosterone target tissues including the distal colon. We used a mouse model for Liddle's syndrome to investigate ENaC-mediated Na+ transport in late distal colon by measuring the amiloride-sensitive transepithelial short circuit current (,ISC-Ami) ex vivo. In Liddle mice maintained on a standard salt diet, ,ISC-Ami was only slightly increased but plasma aldosterone (PAldo) was severely suppressed. Liddle mice responded to a low or a high salt diet by increasing or decreasing, respectively, their PAldo and ,ISC-Ami. However, less aldosterone was required in Liddle animals to achieve similar or even higher Na+ transport rates than wild-type animals. Indeed, the ability of aldosterone to stimulate ,ISC-Ami was about threefold higher in Liddle animals than in the wild-type controls. Application of aldosterone to colon tissue in vitro confirmed that ENaC stimulation by aldosterone was not only preserved but enhanced in Liddle mice. Aldosterone-induced transcriptional up-regulation of the channel's ,- and ,-subunit (,ENaC and ,ENaC) and of the serum- and glucocorticoid-inducible kinase 1 (SGK1) was similar in colon tissue from Liddle and wild-type animals, while aldosterone had no transcriptional effect on the ,-subunit (,ENaC). Moreover, Na+ feedback regulation was largely preserved in colon tissue of Liddle animals. In conclusion, we have demonstrated that in the colon of Liddle mice, ENaC-mediated Na+ transport is enhanced with an increased responsiveness to aldosterone. This may be pathophysiologically relevant in patients with Liddle's syndrome, in particular on a high salt diet, when suppression of PAldo is likely to be insufficient to reduce Na+ absorption to an appropriate level. [source] Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spineANNALS OF NEUROLOGY, Issue 2 2010Eugenio Mercuri MD Objective The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement. Methods We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes. The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery,Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects). The scans of 25 patients affected by other myopathies were also reviewed as a control group. The scans were compared with the previously described patterns. Results In 82% of the scans in the study group (68/83) the patterns were classified as "typical" of 1 of the 5 forms studied, and in 7 (8%) were consistent with 1 of the reported patterns but not entirely typical. With one exception, the patterns identified were always consistent with the appropriate genetic diagnosis. The remaining scans (9%) had only minimal changes and were uninformative. None of the scans of the 25 patients in the control group had patterns that could be classified as typical of the 5 forms examined. The sensitivity to detect selective patterns in relation to the genetic diagnosis was 0.9. Interpretation These findings suggest that muscle magnetic resonance imaging could be used in clinical practice as an additional tool in the differential diagnosis of muscle disorders with prominent spinal rigidity. ANN NEUROL 2010;67:201,208 [source] Do PPPs in Social Infrastructure Enhance the Public Interest?AUSTRALIAN JOURNAL OF PUBLIC ADMINISTRATION, Issue 2010Evidence from England's National Health Service This article outlines and critiques the main fiscal and economic rationales for the Private Finance Initiative , by far the dominant form of public-private partnership in the United Kingdom (UK) , and examines the impact of the policy on the long term financial viability of the National Health Service. It shows that the interest rate on private finance contains a significant element of ,excess return' to investors, and there is no evidence that this ,excess cost' to the public sector is offset by greater efficiency through the contracting process. It concludes that the private financing of public capital investment is highly problematic , and can have a serious impact on the finances and capacity of public authorities. [source] Interspecific Competition and Niche Separation in Primates: A Global AnalysisBIOTROPICA, Issue 3 2009Brian M. Schreier ABSTRACT Primates are an extraordinarily well-known tropical forest, mammalian taxon. We investigated potential modes of niche separation in primates by identifying sympatric species with putatively similar niche characteristics and assessing potential competition using data gleaned from an extensive literature review. We defined competing species-pairs as (a) sympatric species in which (b) the body mass of the larger species was within 30 percent of the smaller species' mass and (c) the species had the same category of diet. A sample of 43 well-studied forests (7,20 per continent) provided 673 pairs of sympatric primate species. Of these, 45 pairs (7%) are potential competitors by our definition. Africa has the largest number of competing pairs (17 pairs), while Asia might have the highest percentage of competitors in each forest site (17%). Niche separation was investigated for each pair by examining them for each of eight possible modes of separation: detailed differences in diets (28% of potential competitors), use of different heights in the forest (25%), use of different types of forest (14%), use of different locations within the forest (11%), use of support branches of different diameters (7%), different ranging behavior (6%), different techniques of prey capture (4%), and differential timing of activity (4%). The use of different heights in the forest is the dominant form of potential separation in Africa (31% of competing species-pairs) and Asia (38%), while detailed differences in diet appears to be the primary mode of niche separation in the Americas (26%) and Madagascar (32%). [source] Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 DeficiencyBRAIN PATHOLOGY, Issue 4 2003Peter C. G. Nijssen We describe the neuropathological and biochemical autopsy findings in 3 patients with autosomal dominant adult neuronal ceroid lipofuscinosis (ANCL, Parry type; MIM 162350), from a family with 6 affected individuals in 3 generations. Throughout the brain of these patients, there was abundant intraneuronal lysosomal storage of autofluorescent lipopigment granules. Striking loss of neurons in the substantia nigra was found. In contrast, little neuronal cell loss occurred in other cerebral areas, despite massive neuronal inclusions. Visceral storage was present in gut, liver, cardiomyocytes, skeletal muscle, and in the skin eccrine glands. The storage material showed highly variable immunoreactivity with antiserum against subunit c of mitochondrial ATP synthase, but uniform strong immunoreactivity for saposin D (sphingolipid activating protein D). Protein electrophoresis of isolated storage material revealed a major protein band of about 14 kDa, recognized in Western blotting by saposin D antiserum (but not subunit c of mitochondrial ATPase (SCMAS) antiserum). Electron microscopy showed ample intraneuronal granular osmiophilic deposits (GRODs), as occurs in CLN1 and congenital ovine NCL. These forms of NCL are caused by the deficiencies of palmitoyl protein thioesterase 1 and cathepsin D, respectively. However, activities of these enzymes were within normal range in our patients. Thus we propose that a gene distinct from the cathepsin D and CLN1-CLN8 genes is responsible for this autosomal dominant form of ANCL. [source] A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalpBRITISH JOURNAL OF DERMATOLOGY, Issue 6 2005N.O. Dávalos Summary Background, Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the corneodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin. Objectives, To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene. Patients/Methods, The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed. Results, By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation cosegregates perfectly in the family with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI. Conclusions, A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins. [source] Emotion Work and Emotion Space: Using a Spatial Perspective to Explore the Challenging of Masculine Emotion Management PracticesBRITISH JOURNAL OF MANAGEMENT, Issue 2008Patricia Lewis This paper sets out to investigate the possibility that employees may challenge management through their colonization of work space, facilitated by the transportation of ,private' behaviours and activities into the ,public' world of organization. It does this within the context of a broader project on the management of emotions within a special care baby unit characterized as a high risk, emergency working environment. Focusing on the experience of night nurses and drawing on the concept of differential space the article seeks to demonstrate how the dominant form of emotion work (characterized as masculine) on the unit may be contested. This is done through the creation of the unit at night as a space of empowerment, achieved through the visible enactment of a feminized form of emotion work. In this sense the analysis explores how the performance of feminine emotion work can be understood as acts of spatial resistance to the authority of the masculine emotion regime. In other words night nurses make the special care baby unit into a space which challenges the masculinist emotion management which dominates the unit. It will be suggested that our understanding of the performance of emotion management practices in particular and management practices in general may be limited if space is ignored. [source] Acceptance and Commitment Therapy: New Wave or Morita Therapy?CLINICAL PSYCHOLOGY: SCIENCE AND PRACTICE, Issue 4 2008Stefan G. Hofmann Acceptance and commitment therapy (ACT) is an approach to treatment that includes potentially useful strategies. Some proponents of ACT view it as part of a third wave movement destined to replace cognitive behavioral therapy (CBT) as the dominant form of psychological therapy. This perception is problematic, because the criticism offered by ACT against CBT is based on a misrepresentation of the empirical evidence. Moreover, the strategies of ACT are not specific to the theory and philosophy underlying ACT. There are considerable similarities between ACT and Eastern holistic approaches, such as Morita therapy, which was developed 80 years ago. Future research on the mechanism of treatment change directly comparing CBT and ACT will help solve many of the current controversies. The term third wave in connection with ACT should be avoided. [source] Accumulation of heterocyclic nitrogen in humified organic matter: a 15N-NMR study of lowland rice soilsEUROPEAN JOURNAL OF SOIL SCIENCE, Issue 3 2000N. Mahieu Summary Recent intensification of cropping and the attendant longer submergence of the soil for lowland rice in tropical Asia appear to have altered the nature of the soil organic matter, and perhaps also nutrient cycling. To identify the dominant forms of organic nitrogen in the soils we extracted the labile mobile humic acid (MHA) and the more recalcitrant calcium humate (CaHA) fractions from soils under several long-term field experiments in the Philippines and analysed them by 15N-nuclear magnetic resonance spectroscopy. Amide N dominated the spectra of all humic acid (HA) samples (60,80% of total peak area). Its proportion of total spectral area increased with increasing intensity of cropping and length of time during which the soil was flooded and was greater in the MHA fraction than in the CaHA fraction. Simultaneously the spectral proportion of free amino N and other chemical shift regions decreased slightly with increasing length of submergence. Heterocyclic N was detected at modest proportions (7,22%) and was more prevalent in more humified samples, especially in the CaHA of aerated soils. Correlations of spectral proportions of heterocyclic N with other properties of the HA, reported elsewhere, were highly significant. Correlations were positive with visible light absorption (r=,0.86) and concentration of free radicals (r=,0.85), both of which are indices of humification, and negative with concentration of H (r=,,0.86), a negative index of humification. Correlations of spectral proportions of amide N with these properties were also highly significant but in each case of opposite sign to that of heterocyclic N. Proportions of heterocyclic N declined with increasing duration of submergence. The results suggest that (i) 15N-NMR can reproducibly measure some portion of heterocyclic N, (ii) formation of heterocyclic N is associated solely with gradual humification occurring over many years, and (iii) the abundant phenols in the submerged rice soils did not promote formation of heterocyclic N, and hence some other process is responsible for a substantial decrease in the availability of native N associated with intensive rice cropping. [source] Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations,HUMAN MUTATION, Issue 1 2010Alessandra Pangrazio Abstract The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the intermediate and the recessive severe form. While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has drawn the attention of many researchers, as mutations within this gene are associated with very different phenotypes. We report here the characterization of 25 unpublished patients which has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects. Careful analysis of clinical and molecular data led us to several conclusions. First, intermediate osteopetrosis is not homogeneous, since it can comprise both severe dominant forms with an early onset and recessive ones without central nervous system involvement. Second, the appropriateness of haematopoietic stem cell transplantation in CLCN7-dependent ARO patients has to be carefully evaluated and exhaustive CNS examination is strongly suggested, as transplantation can almost completely cure the disease in situations where no primary neurological symptoms are present. Finally, the analysis of this largest cohort of CLCN7-dependent ARO patients together with some ADO II families allowed us to draw preliminary genotype-phenotype correlations suggesting that haploinsufficiency is not the mechanism causing ADO II. The availability of biochemical assays to characterize ClC-7 function will help to confirm this hypothesis. © 2009 Wiley-Liss, Inc. [source] Governance and poverty in sub-Saharan Africa: rethinking best practices in migration managementINTERNATIONAL SOCIAL SCIENCE JOURNAL, Issue 190 2006Thanh-Dam Truong This article explores the interface between migration and human trafficking in sub-Saharan Africa fromthe two angles of governance and poverty. A salient feature in the emerging frameworks of migration management is its implicit bifurcated vision of mobility. Trade-connected mobility is well protected by government rules whereas mobility to sustain livelihoods is subject to a punitive regime with a limited scope for resolving the discrepancy between the legal and social interpretations of human rights and well-being. The rise of migration by women, children and young people within and outside traditional practices under risky conditions may reflect deeper structural transformations than are commonly acknowledged by policy-makers. Reactions based on human rights concerns have contributed to new international, regional and national legislative frameworks for preventing abusive and exploitative practices in migration. The prevalence of glaring differences of interests in the variant policy approaches to all these issues , migration management, crime control, labour standards, poverty reduction and the particular needs of communities at risk , requires the concept of best practices to address the relationship between dominant forms of social knowledge and the policy field to situate and tackle issues of rights violation in different scales of governance and their interrelationships. [source] N-MYC Downstream-Regulated Gene 1 Is Mutated In Hereditary Motor And Sensory Neuropathy-LOMJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001L Kalaydjieva Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell differentiation, and cell-cell interactions in the peripheral nervous system. Autosomal recessive peripheral neuropathies are relatively rare but are clinically more severe than autosomal dominant forms of CMT, and understanding their molecular basis may provide a new perspective on these mechanisms. Here we report the identification of the gene responsible for hereditary motor and sensory neuropathy-Lom (HMSNL). HMSNL shows features of Schwann-cell dysfunction and a concomitant early axonal involvement, suggesting that impaired axon-glia interactions play a major role in its pathogenesis. The gene was previously mapped to 8q24.3, where conserved disease haplotypes suggested genetic homogeneity and a single founder mutation. We have reduced the HMSNL interval to 200 kb and have characterized it by means of large-scale genomic sequencing. Sequence analysis of two genes located in the critical region identified the founder HMSNL mutation: a premature-termination codon at position 148 of the N-myc downstream-regulated gene 1 (NDRG1). NDRG1 is ubiquitously expressed and has been proposed to play a role in growth arrest and cell differentiation, possibly as a signaling protein shuttling between the cytoplasm and the nucleus. We have studied expression in peripheral nerve and have detected particularly high levels in the Schwann cell. Taken together, these findings point to NDRG1 having a role in the peripheral nervous system, possibly in the Schwann-cell signaling necessary for axonal survival. [source] | |||||||||||||||||||||||||||||||||||||