bluuebunny/crossref_metadata_2025_split huggingface dataset:
Density‐dependent growth of young‐of‐the‐year Atlantic salmon (Salmo salar) revisited
Authors: Imre I. , Grant J. W. A. , Cunjak R. A. 
Published: December 2009

Imre I, Grant JWA, Cunjak RA. Density‐dependent growth of young‐of‐the‐year Atlantic salmon (Salmo salar) revisited. Ecology of Freshwater Fish 2010: 19: 1–6. © 2009 John Wiley & Sons A/SAbstract – The length of individual young‐of‐the‐year (YOY) Atlantic salmon (Salmo salar) in Catamaran Brook decreases with increasing population density following a negative power curve. Because most of this decrease in growth rate occurs at low densities (<1 fish·m−2), (Imre et al. 2005; Journal of Animal Ecology, 74: 508–516)suggestedthat exploitation competition for drifting prey rather than space limitation might be responsible for this pattern. Recently, (Ward et al. 2007; Journal of Animal Ecology, 76: 135–138) showed that the negative power curve of growth rate versus densitycanbe caused by other mechanisms and suggested that Imre et al.’s evidence for density‐dependent growth would have been stronger if we had analysed final size versus initial density rather than final density. We examined (i) whether the negative power curve of size versus density was also apparent in an analysis of final size versus initial density and tested two predictions that emerge from Ward et al.’s model, (ii) the variance in body size increases with population density, and (iii) the maximum fish size at a site is density‐independent. The final size of YOY salmon decreased with increasing initial density following a negative power curve. Our data did not provide strong support for the above predictions emerging from Ward et al.’s model. Our analyses of different years, sites and seasons were consistent with the hypothesis of density‐dependent growth of YOY salmon.
Does morphological variation between young‐of‐the‐year perch from two Swedish lakes depend on genetic differences?
Authors: Heynen M. , Hellström G. , Magnhagen C. , Borcherding J. 
Published: December 2009

Heynen M, Hellström G, Magnhagen C, Borcherding J. Does morphological variation between young‐of‐the‐year perch from two Swedish lakes depend on genetic differences? Ecology of Freshwater Fish 2010: 19: 163–169. © 2009 John Wiley & Sons A/SAbstract –  Different local environmental conditions have often been found to generate phenotypic diversity. In the present study we examined morphological differences between young‐of‐the‐year perch from two lake populations with differences in size‐specific predation risk. A common garden setup was used to examine the genetic and environmental components of the morphological variation. We found differences in head and jaw length and slight differences in body depth between the wild young‐of‐the‐year perch from Lake Ängersjön and Lake Fisksjön. The differences found between the wild fish from the two lakes were not maintained under common garden rearing. The observed morphological divergence between the wild young‐of‐the‐year perch from Lake Ängersjön and Lake Fisksjön seems to stem mainly from a plastic response to different environmental conditions in the two lakes. It is clear that the morphological traits are not influenced by direct reaction to the size‐specific risk of cannibalism, but probably stem from a combination of different environment characteristics, including resource and habitat use, and the density of other piscivores, such as pike.
Birth defects caused by mutations in human GLI3 and mouse Gli3 genes
Authors: Naruse Ichiro , Ueta Etsuko , Sumino Yoshiki , Ogawa Masaya , Ishikiriyama Satoshi 
Published: December 2009

ABSTRACT GLI3 is the gene responsible for Greig cephalopolysyndactyly syndrome (GCPS), Pallister–Hall syndrome (PHS) and Postaxial polydactyly type‐A (PAP‐A). Genetic polydactyly mice such as Pdn/Pdn (Polydactyly Nagoya), XtH/XtH (Extra toes) and XtJ/XtJ (Extra toes Jackson) are the mouse homolog of GCPS, and Gli3tmlUrtt/Gli3tmlUrt is produced as the mouse homolog of PHS. In the present review, relationships between mutation points of GLI3 and Gli3, and resulting phenotypes in humans and mice are described. It has been confirmed that mutation in the upstream or within the zinc finger domain of the GLI3 gene induces GCPS; that in the post‐zinc finger region including the protease cleavage site induces PHS; and that in the downstream of the GLI3 gene induces PAP‐A. A mimicking phenomenon was observed in the mouse homolog. Therefore, human GLI3 and mouse Gli3 genes have a common structure, and it is suggested here that mutations in the same functional regions produce similar phenotypes in human and mice. The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn, XtH/XtH, XtJ/XtJ and Gli3tmlUrt/Gli3tmlUrt, are autosomal recessive traits in the manifestation of similar phenotypes to human diseases. It is discussed here how the reduced amounts of the GLI3 protein, or truncated mutant GLI3 protein, disrupt development of the limbs, head and face.
Relationship Between Aboveground Biomass and Multiple Measures of Biodiversity in Subtropical Forest of Puerto Rico
Authors: Vance‐Chalcraft Heather D. , Willig Michael R. , Cox Stephen B. , Lugo Ariel E. , Scatena Frederick N. 
Published: December 2009

ABSTRACTAnthropogenic activities have accelerated the rate of global loss of biodiversity, making it more important than ever to understand the structure of biodiversity hotspots. One current focus is the relationship between species richness and aboveground biomass (AGB) in a variety of ecosystems. Nonetheless, species diversity, evenness, rarity, or dominance represent other critical attributes of biodiversity and may have associations with AGB that are markedly different than that of species richness. Using data from large trees in four environmentally similar sites in the Luquillo Experimental Forest of Puerto Rico, we determined the shape and strength of relationships between each of five measures of biodiversity (i.e., species richness, Simpson's diversity, Simpson's evenness, rarity, and dominance) and AGB. We quantified these measures of biodiversity using either proportional biomass or proportional abundance as weighting factors. Three of the four sites had a unimodal relationship between species richness and AGB, with only the most mature site evincing a positive, linear relationship. The differences between the mature site and the other sites, as well as the differences between our richness–AGB relationships and those found at other forest sites, highlight the crucial role that prior land use and severe storms have on this forest community. Although the shape and strength of relationships differed greatly among measures of biodiversity and among sites, the strongest relationships within each site were always those involving richness or evenness.
Extension theorems for differential forms and Bogomolov–Sommese vanishing on log canonical varieties
Authors: Greb Daniel , Kebekus Stefan , Kovács Sándor J. 
Published: December 2009

AbstractGiven a normal variety Z, a p-form σ defined on the smooth locus of Z and a resolution of singularities $\pi : \widetilde {Z} \to Z$, we study the problem of extending the pull-back π*(σ) over the π-exceptional set $E \subset \widetilde {Z}$. For log canonical pairs and for certain values of p, we show that an extension always exists, possibly with logarithmic poles along E. As a corollary, it is shown that sheaves of reflexive differentials enjoy good pull-back properties. A natural generalization of the well-known Bogomolov–Sommese vanishing theorem to log canonical threefold pairs follows.
Low von Willebrand factor: sometimes a risk factor and sometimes a disease
Authors: Sadler J. Evan 
Published: December 2009

Abstract
A sufficiently low level of von Willebrand factor (VWF) predisposes to bleeding that can be quite serious, and low VWF is a diagnostic feature of von Willebrand disease (VWD) type 1, which is characterized by partial quantitative deficiency of VWF. Recent groundbreaking studies of patients with VWD type 1 have delineated several pathophysiologic mechanisms that determine the plasma concentration of VWF, but the relationship between VWF level and the likelihood of bleeding remains less well understood. In part, this problem reflects the broad range of VWF levels in the population, so that the distinction between “normal” and “low” is arbitrary. The risk of bleeding certainly increases as the VWF level decreases, but the relationship is not very strong until the VWF level is very low. Furthermore, mild bleeding symptoms are common in apparently healthy populations and have many causes other than defects in VWF, which can make it impossible to attribute bleeding to any single factor, such as low VWF. These difficulties might be resolved by an epidemiologic approach to VWF and other risk factors for bleeding, analogous to how physicians manage multiple risk factors for cardiovascular disease or venous thromboembolism.
Hemophagocytic lymphohistiocytosis (HLH) and related disorders
Authors: Filipovich Alexandra H. 
Published: December 2009

Abstract
Hemophagocytic lymphohistiocytosis (HLH), which has many genetic causes, is characterized by multi-system inflammation. HLH is a reactive process resulting from prolonged and excessive activation of antigen presenting cells (macrophages, histiocytes) and CD8+ T cells. Hemophagocytosis, which is mediated through the CD163 heme-scavenging receptor, is a hallmark of activated macrophages/histiocytes and is the characteristic finding for which the disorder was named. The majority of genetic causes identified to date affect the cytotoxic function of NK and T cells, crippling immunologic mechanisms that mediate natural immune contraction. The predominant clinical findings of HLH are fevers (often hectic and persistent), cytopenias, hepatitis and splenomegaly. Due to the life-threatening implications of the diagnosis of genetically determined HLH, antiinflammatory therapy, often consisting of steroids, etoposide or antithymocyte globulin (ATG), should be instituted promptly, followed by curative hematopoietic cell transplantation. Secondary HLH, associated with autoimmune disorders or viral infections in teens and adults, also carries a significant mortality rate and should be managed in consultation with specialists familiar with the diagnosis and treatment of such disorders.
New insights into the biology of Wiskott-Aldrich syndrome (WAS)
Authors: Thrasher Adrian J. 
Published: December 2009

AbstractThe Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disease with a characteristic clinical phenotype that includes thrombocytopenia with small platelets, eczema, recurrent infections due to immunodeficiency, and an increased incidence of autoimmune manifestations and malignancies. The identification of the molecular defect in the WAS gene has broadened the clinical spectrum of disease to include chronic or intermittent X-linked thrombocytopenia (XLT), a relatively mild form of WAS, and X-linked neutropenia (XLN) due to an arrest of myelopoiesis. The pathophysiological mechanisms relate to defective actin polymerization in hematopoietic cells as a result of deficient or dysregulated activity of the WAS protein (WASp). The severity of disease is variable and somewhat predictable from genotype. Treatment strategies therefore range from conservative through to early definitive intervention by using allogeneic hematopoietic stem cell transplantation and potentially somatic gene therapy. All aspects of the condition from clinical presentation to molecular pathology and basic cellular mechanisms have been reviewed recently.
Primary immunodeficiencies (PIDs) presenting with cytopenias
Authors: Notarangelo Luigi D. 
Published: December 2009

Abstract
Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for this association. Among autoimmune manifestations in patients with PID, cytopenias are particularly common. Up to 80% of patients with autoimmune lymphoproliferative syndrome (ALPS) have autoantibodies, and autoimmune hemolytic anemia and immune thrombocytopenia have been reported in 23% and 51% of ALPS patients, and may even mark the onset of the disease. ALPS-associated cytopenias are often refractory to conventional treatment and represent a therapeutic challenge. Autoimmune manifestations occur in 22% to 48% of patients with common variable immunodeficiencies (CVIDs), and are more frequent among CVID patients with splenomegaly and granulomatous disease. Finally, autoimmune cytopenias have been reported also in patients with combined immunodeficiency. In particular, autoimmune hemolytic anemia is very common among infants with nucleoside phosphorylase deficiency. While immune suppression may be beneficial in these cases, full resolution of the autoimmune manifestations ultimately depends on immune reconstitution, which is typically provided by hematopoietic cell transplantation.
Thrombocytosis
Authors: Skoda Radek C. 
Published: December 2009

AbstractMajor progress in understanding the pathogenesis in patients with thrombocytosis has been made by identifying mutations in the key regulators of thrombopoietin: the thrombopoietin receptor MPL and JAK2. Together, these mutations can be found in 50% to 60% of patients with essential thrombocythemia or primary myelofibrosis and in 10% to 20% of hereditary thrombocytosis. A decrease in expression of the Mpl protein can cause thrombocytosis even in the absence of mutations in the coding sequence, due to a shift in the balance between stimulation of signaling in megakaryopoiesis and removal of thrombopoietin by receptor mediated internalization in platelets. When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis. In 30% to 40% of patients with ET or primary myelofibrosis (PMF) and in 80% to 90% of pedigrees with hereditary thrombocytosis the disease-causing gene remains unknown. Ongoing genetic and genomic screens have identified genes that, when mutated, can cause thrombocytosis in mouse models. A more complete picture of the pathways that regulate megakaryopoisis and platelet production will be important for finding new ways of controlling platelet production in patients with thrombocytosis.
Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease
Authors: Chou Stella T. , Westhoff Connie M. 
Published: December 2009

AbstractThe last decade has witnessed an abundance of information detailing the genetic diversity of the RH locus which has exceeded all estimates predicted by serology. Well over 120 RHD and over 60 different RHCE alleles have been documented, and new alleles are still being discovered. For clinical transfusion medicine, RH genetic testing can now be used to determine RHD zygosity, resolve D antigen status, and detect altered RHD and RHCE genes in individuals at risk for producing antibodies to high-incidence Rh antigens, particularly patients with sickle cell disease (SCD).
Heparin-induced thrombocytopenia: when a low platelet count is a mandate for anticoagulation
Authors: Ortel Thomas L. 
Published: December 2009

Abstract
Heparin-induced thrombocytopenia (HIT) is an immune-mediated disorder caused by the development of antibodies to platelet factor 4 (PF4) and heparin. The thrombocytopenia is typically moderate, with a median platelet count nadir of ~50 to 60 × 109 platelets/L. Severe thrombocytopenia has been described in patients with HIT, and in these patients antibody levels are high and severe clinical outcomes have been reported (eg, disseminated intravascular coagulation with microvascular thrombosis). The timing of the thrombocytopenia in relation to the initiation of heparin therapy is critically important, with the platelet count beginning to drop within 5 to 10 days of starting heparin. A more rapid drop in the platelet count can occur in patients who have been recently exposed to heparin (within the preceding 3 months), due to preformed anti-heparin/PF4 antibodies. A delayed form of HIT has also been described that develops within days or weeks after the heparin has been discontinued. In contrast to other drug-induced thrombocytopenias, HIT is characterized by an increased risk for thromboembolic complications, primarily venous thromboembolism. Heparin and all heparin-containing products should be discontinued and an alternative, non-heparin anticoagulant initiated. Alternative agents that have been used effectively in patients with HIT include lepirudin, argatroban, bivalirudin, and danaparoid, although the last agent is not available in North America. Fondaparinux has been used in a small number of patients with HIT and generally appears to be safe. Warfarin therapy should not be initiated until the platelet count has recovered and the patient is systemically anticoagulated, and vitamin K should be administered to patients receiving warfarin at the time of diagnosis of HIT.
Antiphospholipid antibody syndrome
Authors: Lim Wendy 
Published: December 2009

Abstract
The antiphospholipid antibody syndrome (APS) is defined by the persistent presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism or pregnancy morbidity. Anti-thrombotic therapy is the mainstay of treatment given the high risk of recurrent thromboembolism that characterizes this condition. Despite the prothrombotic nature of APS, thrombocytopenia is present in a proportion of patients. which can complicate management and limit the use of antithrombotic therapy. The mechanism of APS-associated thrombocytopenia is multifactorial and its relation to thrombotic risk poorly characterized. However, the presence of thrombocytopenia does not appear to reduce thrombotic risk in patients with APS, who can develop thromboembolic complications necessitating antithrombotic treatment. In these cases, treatment of the thrombocytopenia may be necessary to facilitate administration of antithrombotic agents. Clinical trials have demonstrated that patients with antiphospholipid antibodies and venous thromboembolism should be treated with vitamin K antagonists (warfarin); that ischemic stroke may be treated with aspirin or warfarin; and that women with recurrent pregnancy loss should receive prophylactic-dose heparin and aspirin. However, application of these trial results to patients with APS-associated thrombocytopenia can be challenging since there are limited data on the optimal use of antithrombotic agents in this setting. Issues such as determining the platelet threshold at which antithrombotic agents can be safely used and managing patients with both bleeding and thromboembolic complications remain unresolved. Ultimately the risks and benefits of antithrombotic therapy, balanced against the severity of the thrombocytopenia and its potential bleeding risks, need to be assessed using an individualized patient approach.
Thrombocytopenia and thrombosis in disseminated intravascular coagulation (DIC)
Authors: Kitchens Craig S. 
Published: December 2009

Abstract
Disseminated intravascular coagulation (DIC) is the physiologic result of pathologic overstimulation of the coagulation system. Despite multiple triggers, a myriad of laboratory abnormalities, and a clinical presentation ranging from gross hemostatic failure to life-threatening thrombosis, or even both simultaneously, a simplified clinical approach augmented by a few readily available tests allows prompt identification of the process and elucidation of treatment opportunities. Platelet counts in DIC may be low, especially in acute sepsis-associated DIC, yet increased in malignancy-associated chronic DIC. Thrombotic risk is not a function of the platelet count, and thrombocytopenia does not protect the patient from thrombosis. The stratification of both thrombotic risk and hemorrhagic risk will be addressed.
Hb H disease: clinical course and disease modifiers
Authors: Fucharoen Suthat , Viprakasit Vip 
Published: December 2009

Abstract
Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management. In the majority of cases, Hb H disease results from double heterozygosity for α0-thalassemia due to deletions that remove both linked α-globin genes on chromosome 16, and deletional α+-thalassemia from single α-globin gene deletions (--/−α). However, Hb H disease may occur from interactions between α0-thalassemia with non-deletional mutations (αTα or αT) or with abnormal hemoglobins such as Hb Constant Spring, Hb Paksé, Hb Quong Sze, and Hb Pak Num Po. In a steady state, patients with Hb H diseases have hemoglobin levels around 9 to 10 g/dL; however, during hemolytic crisis, which frequently develops in or after acute infections with high fever, the hemoglobin level may drop significantly and patients can develop shock or renal shutdown. Even though splenectomy leads to significant elevation of hemoglobin levels, it is not recommended because the majority of patients do well with said steady-state hemoglobin levels. Patients with non-deletional Hb H disease are usually more anemic with significant splenomegaly, and some may require regular blood transfusions and be even as severe as “Hb H hydrops fetalis.” However, there is no clear genotype-phenotype correlation associated with this severe clinical syndrome since patients with identical genotypes do not necessary show the same severity. This suggests that other genetic and environmental factors play a role in modifying the degree of clinical severity in patients with non-deletional Hb H disease.
Antiplatelet agents
Authors: Varon David , Spectre Galia 
Published: December 2009

Abstract
The introduction of aspirin as an anti-thrombotic agent some 50 years ago has changed the therapeutic approach in cardiovascular medicine. Since platelets play a key role in the development of arterial thrombosis, antiplatelet drugs serve as a cornerstone in the prevention and the treatment of these conditions. After many years of a “monopoly” of aspirin, ADP receptor P2Y12 inhibitors were introduced with a significant improvement in clinical outcome. Nowadays dual antiplatelet therapy is the common practice for both acute events and secondary prevention in selected groups of patients. Another revolution was the development of potent inhibitors of the platelet integrin GPIIbIIIa, which significantly improved the outcome of percutaneous interventions (PCI), in cardiology. The improved efficacy of multiple-drug therapy is associated with an increased risk of bleeding, which raises the issue of the dosing of these drugs. Recently, numerous studies have reported a variable laboratory response to aspirin and clopidogrel, which correlates with clinical outcome. Several mechanisms have been proposed to cause this variable response, including genetic variability, disease burden and others. A major obstacle in this field is the lack of a standardized method for testing these responses, and thus some studies cannot be compared to others. Ongoing studies are currently investigating the potential translation of these observations into clinical practice. Such studies may lead to a change in the paradigm of antiplatelet therapy, where individual dose adjustment may improve efficacy and safety. Finally, a variety of new drugs are currently in different stages of development, including new P2Y12 receptor inhibitors, thromboxane receptor blockers, direct thrombin inhibitors and other signaling pathway inhibitors including oral GPIIbIIIa inhibitors. Thus, antiplatelet therapy is currently under intensive development toward multiple-drug therapy and personal-dose adjustment, which may improve clinical outcome.