bluuebunny/crossref_metadata_2025_split huggingface dataset:
Predilection to deafferentation pain syndrome after radiosurgery in cluster headache
Authors: Donnet A , Carron R , Régis J 
Published: April 2012

Cluster-tic syndrome is a rare, disabling disorder. We report the first case of cluster-tic syndrome with a successful response to stereotactic radiosurgery. After failing optimal medical treatment, a 58-year-old woman suffering from cluster-tic syndrome was treated with gamma knife radiosurgery. The trigeminal nerve and sphenopalatine ganglion were targeted with a maximum dose of 85 and 90 Gy respectively. The patient experienced a complete resolution of the initial pain, but developed, as previously described after radiosurgical treatment for cluster headache, a trigeminal nerve dysfunction. This suggests that trigeminal nerve sensitivity to radiosurgery can be extremely different depending on the underlying pathological condition, and that there is an abnormal sensitivity of the trigeminal nerve in cluster headache patients. We do not recommend trigeminal nerve radiosurgery for treatment of cluster headache.
Motion processing deficits in migraine are related to contrast sensitivity
Authors: Shepherd Alex J , Beaumont Heidi M , Hine Trevor J 
Published: April 2012

Background: There are conflicting reports concerning the ability of people with migraine to detect and discriminate visual motion. Previous studies used different displays and none adequately assessed other parameters that could affect performance, such as those that could indicate precortical dysfunction. Methods: Motion-direction detection, discrimination and relative motion thresholds were compared from participants with and without migraine. Potentially relevant visual covariates were included (contrast sensitivity; acuity; stereopsis; visual discomfort, stress, triggers; dyslexia). Results: For each task, migraine participants were less accurate than a control group and had impaired contrast sensitivity, greater visual discomfort, visual stress and visual triggers. Only contrast sensitivity correlated with performance on each motion task; it also mediated performance. Conclusions: Impaired performance on certain motion tasks can be attributed to impaired contrast sensitivity early in the visual system rather than a deficit in cortical motion processing per se. There were, however, additional differences for global and relative motion thresholds embedded in noise, suggesting changes in extrastriate cortex in migraine. Tasks to study the effects of noise on performance at different levels of the visual system and across modalities are recommended. A battery of standard visual tests should be included in any future work on the visual system and migraine.
Human Colostrum and Breast Milk Contain High Levels of TNF-Related Apoptosis-Inducing Ligand (TRAIL)
Authors: Davanzo Riccardo , Zauli Giorgio , Monasta Lorenzo , Vecchi Brumatti Liza , Abate Maria Valentina , Ventura Giovanna , Rimondi Erika , Secchiero Paola , Demarini Sergio 
Published: April 2012

Background: TNF-related apoptosis inducing ligand (TRAIL) is a pleiotropic cytokine, which plays a key role in the immune system as well as in controlling the balance of apoptosis and proliferation in various organs and tissues. Objective: To investigate the presence and levels of soluble TRAIL in human colostrum and milk. Methods: The levels of soluble human TRAIL were measured in human colostrum (day 2 after delivery) and breast milk (day 5 after delivery). The presence of TRAIL was also measured in infant formula. Results: Levels of soluble TRAIL in the colostrum and mature human milk were, respectively, at least 400 and 100 fold higher than those detected in human serum. No TRAIL was detected in formula. Conclusion: Human soluble TRAIL is present at extremely high levels in human colostrum and human milk and might have a significant role in mediating the anti-cancer activity of human milk.
The Psychopharmacological Management of RLS in Psychiatric Conditions
Authors: Cuellar Norma G. 
Published: April 2012

Background: Restless legs syndrome (RLS) is a movement disorder treated with dopamine agonists. RLS is often diagnosed as a comorbid condition with psychiatric disorders, which are treated with dopamine antagonists or antidepressants resulting in onset or exacerbation of RLS symptoms. Objectives: The objectives of this article are to provide a review of the literature to (a) describe the comorbidity of psychiatric disorders associated with RLS, (b) identify the treatment of psychiatric disorders that cause or exacerbate symptoms of RLS, and (c) provide clinical recommendations for psychiatric health care providers. Design: A review of the literature of English articles included the databases of Medline, Pubmed, PsychINFO, and CINAHL for “Restless Legs Syndrome” with major psychiatric disorders including mood disorders (depression and bipolar), schizophrenia, and anxiety disorders (anxiety, panic disorder, obsessive compulsive disorder). The PRISMA guidelines were used to improve the reporting of the review of the literature. Results: There were 61 articles that met the inclusion and exclusion criteria identified for the review of the literature, including RLS with mood disorders ( n = 36), schizophrenia ( n = 9), and anxiety disorders ( n = 16). Conclusions: Clinical trials are lacking on the best treatment for persons with RLS and psychiatric disorders; the most rigorous research found in the literature related to depression and anxiety. Studies lack evidence to document the best practice for persons with RLS and comorbid psychiatric disorders. Psychiatric health care providers should be aware of RLS, which is influenced by psychiatric medications.
Multiple myeloma–related deregulation of bone marrow–derived CD34+ hematopoietic stem and progenitor cells
Authors: Bruns Ingmar , Cadeddu Ron-Patrick , Brueckmann Ines , Fröbel Julia , Geyh Stefanie , Büst Sebastian , Fischer Johannes C. , Roels Frederik , Wilk Christian Matthias , Schildberg Frank A. , Hünerlitürkoglu Ali-Nuri , Zilkens Christoph , Jäger Marcus , Steidl Ulrich , Zohren Fabian , Fenk Roland , Kobbe Guido , Brors Benedict , Czibere Akos , Schroeder Thomas , Trumpp Andreas , Haas Rainer 
Published: April 2012

Abstract
Multiple myeloma (MM) is a clonal plasma cell disorder frequently accompanied by hematopoietic impairment. We show that hematopoietic stem and progenitor cells (HSPCs), in particular megakaryocyte-erythrocyte progenitors, are diminished in the BM of MM patients. Genomic profiling of HSPC subsets revealed deregulations of signaling cascades, most notably TGFβ signaling, and pathways involved in cytoskeletal organization, migration, adhesion, and cell-cycle regulation in the patients. Functionally, proliferation, colony formation, and long-term self-renewal were impaired as a consequence of activated TGFβ signaling. In accordance, TGFβ levels in the BM extracellular fluid were elevated and mesenchymal stromal cells (MSCs) had a reduced capacity to support long-term hematopoiesis of HSPCs that completely recovered on blockade of TGFβ signaling. Furthermore, we found defective actin assembly and down-regulation of the adhesion receptor CD44 in MM HSPCs functionally reflected by impaired migration and adhesion. Still, transplantation into myeloma-free NOG mice revealed even enhanced engraftment and normal differentiation capacities of MM HSPCs, which underlines that functional impairment of HSPCs depends on MM-related microenvironmental cues and is reversible. Taken together, these data implicate that hematopoietic suppression in MM emerges from the HSPCs as a result of MM-related microenvironmental alterations.
Mitochondrial dysfunction in antiphospholipid syndrome: implications in the pathogenesis of the disease and effects of coenzyme Q10 treatment
Authors: Perez-Sanchez Carlos , Ruiz-Limon Patricia , Aguirre Maria Angeles , Bertolaccini Maria Laura , Khamashta Munther A. , Rodriguez-Ariza Antonio , Segui Pedro , Collantes-Estevez Eduardo , Barbarroja Nuria , Khraiwesh Husam , Gonzalez-Reyes Jose Antonio , Villalba Jose Manuel , Velasco Francisco , Cuadrado Maria Jose , Lopez-Pedrera Chary 
Published: April 2012

Abstract
The exact mechanisms underlying the role of oxidative stress in the pathogenesis and the prothrombotic or proinflammatory status of antiphospholipid syndrome (APS) remain unknown. Here, we investigate the role of oxidative stress and mitochondrial dysfunction in the proatherothrombotic status of APS patients induced by IgG-antiphospholipid antibodies and the beneficial effects of supplementing cells with coenzyme Q10 (CoQ10). A significant increase in relevant prothrombotic and inflammatory parameters in 43 APS patients was found compared with 38 healthy donors. Increased peroxide production, nuclear abundance of Nrf2, antioxidant enzymatic activity, decreased intracellular glutathione, and altered mitochondrial membrane potential were found in monocytes and neutrophils from APS patients. Accelerated atherosclerosis in APS patients was found associated with their inflammatory or oxidative status. CoQ10 preincubation of healthy monocytes before IgG-antiphospholipid antibody treatment decreased oxidative stress, the percentage of cells with altered mitochondrial membrane potential, and the induced expression of tissue factor, VEGF, and Flt1. In addition, CoQ10 significantly improved the ultrastructural preservation of mitochondria and prevented IgG-APS–induced fission mediated by Drp-1 and Fis-1 proteins. In conclusion, the oxidative perturbation in APS patient leukocytes, which is directly related to an inflammatory and pro-atherothrombotic status, relies on alterations in mitochondrial dynamics and metabolism that may be prevented, reverted, or both by treatment with CoQ10.
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
Authors: Lotta Luca A. , Wu Haifeng M. , Mackie Ian J. , Noris Marina , Veyradier Agnes , Scully Marie A. , Remuzzi Giuseppe , Coppo Paul , Liesner Ri , Donadelli Roberta , Loirat Chantal , Gibbs Richard A. , Horne April , Yang Shangbin , Garagiola Isabella , Musallam Khaled M. , Peyvandi Flora 
Published: April 2012

Abstract
The quantification of residual plasmatic ADAMTS13 activity in congenital thrombotic thrombocytopenic purpura (TTP) patients is constrained by limitations in sensitivity and reproducibility of commonly used assays at low levels of ADAMTS13 activity, blunting efforts to establish genotype-phenotype correlations. In the present study, the residual plasmatic activity of ADAMTS13 was measured centrally by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (limit of detection = 0.5%) in 29 congenital TTP patients. The results were used to study correlations among ADAMTS13 genotype, residual plasmatic activity, and clinical phenotype severity. An ADAMTS13 activity above 0.5% was measured in 26 (90%) patients and lower levels of activity were associated with earlier age at first TTP episode requiring plasma infusion, more frequent recurrences, and prescription of fresh-frozen plasma prophylaxis. Receiver operating characteristic curve analysis showed that activity levels of less than 2.74% and 1.61% were discriminative of age at first TTP episode requiring plasma infusion < 18 years, annual rate of TTP episodes > 1, and use of prophylaxis. Mutations affecting the highly conserved N-terminal domains of the protein were associated with lower residual ADAMTS13 activity and a more severe phenotype in an allelic-dose dependent manner. The results of the present study show that residual ADAMTS13 activity is associated with the severity of clinical phenotype in congenital TTP and provide insights into genotype-phenotype correlations.
Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2)
Authors: Collins Peter , Baudo Francesco , Knoebl Paul , Lévesque Hervé , Nemes László , Pellegrini Fabio , Marco Pascual , Tengborn Lilian , Huth-Kühne Angela 
Published: April 2012

Abstract
Acquired hemophilia A (AHA) is an autoimmune disease caused by an autoantibody to factor VIII. Patients are at risk of severe and fatal hemorrhage until the inhibitor is eradicated, and guidelines recommend immunosuppression as soon as the diagnosis has been made. The optimal immunosuppressive regimen is unclear; therefore, data from 331 patients entered into the prospective EACH2 registry were analyzed. Steroids combined with cyclophosphamide resulted in more stable complete remission (70%), defined as inhibitor undetectable, factor VIII more than 70 IU/dL and immunosuppression stopped, than steroids alone (48%) or rituximab-based regimens (59%). Propensity score-matched analysis controlling for age, sex, factor VIII level, inhibitor titer, and underlying etiology confirmed that stable remission was more likely with steroids and cyclophosphamide than steroids alone (odds ratio = 3.25; 95% CI, 1.51-6.96; P < .003). The median time to complete remission was approximately 5 weeks for steroids with or without cyclophosphamide; rituximab-based regimens required approximately twice as long. Immunoglobulin administration did not improve outcome. Second-line therapy was successful in approximately 60% of cases that failed first-line therapy. Outcome was not affected by the choice of first-line therapy. The likelihood of achieving stable remission was not affected by underlying etiology but was influenced by the presenting inhibitor titer and FVIII level.
Polyphosphate: an ancient molecule that links platelets, coagulation, and inflammation
Authors: Morrissey James H. , Choi Sharon H. , Smith Stephanie A. 
Published: April 2012

AbstractInorganic polyphosphate is widespread in biology and exhibits striking prohemostatic, prothrombotic, and proinflammatory effects in vivo. Long-chain polyphosphate (of the size present in infectious microorganisms) is a potent, natural pathophysiologic activator of the contact pathway of blood clotting. Medium-chain polyphosphate (of the size secreted from activated human platelets) accelerates factor V activation, completely abrogates the anticoagulant function of tissue factor pathway inhibitor, enhances fibrin clot structure, and greatly accelerates factor XI activation by thrombin. Polyphosphate may have utility as a hemostatic agent, whereas antagonists of polyphosphate may function as novel antithrombotic/anti-inflammatory agents. The detailed molecular mechanisms by which polyphosphate modulates blood clotting reactions remain to be elucidated.
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
Authors: Zarychanski Ryan , Schulz Vincent P. , Houston Brett L. , Maksimova Yelena , Houston Donald S. , Smith Brian , Rinehart Jesse , Gallagher Patrick G. 
Published: April 2012

Abstract
Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational HX kindreds. Segregation analyses confirmed transmission of the PIEZO1 mutations and cosegregation with the disease phenotype in all affected persons in both kindreds. All patients were heterozygous for FAM38A mutations, except for 3 patients predicted to be homozygous by clinical and physiologic studies who were also homozygous at the DNA level. The FAM38A mutations were both in residues highly conserved across species and within members of the Piezo family of proteins. PIEZO proteins are the recently identified pore-forming subunits of channels that mediate mechanotransduction in mammalian cells. FAM38A transcripts were identified in human erythroid cell mRNA, and discovery proteomics identified PIEZO1 peptides in human erythrocyte membranes. These findings, the first report of mutation in a mammalian mechanosensory transduction channel-associated with genetic disease, suggest that PIEZO proteins play an important role in maintaining erythrocyte volume homeostasis.
Statistical properties of interval mapping methods on quantitative trait loci location: impact on QTL/eQTL analyses
Authors: Wang Xiaoqiang , Gilbert Hélène , Moreno Carole , Filangi Olivier , Elsen Jean-Michel , Le Roy Pascale 
Published: April 2012

Abstract

Background
Quantitative trait loci (QTL) detection on a huge amount of phenotypes, like eQTL detection on transcriptomic data, can be dramatically impaired by the statistical properties of interval mapping methods. One of these major outcomes is the high number of QTL detected at marker locations. The present study aims at identifying and specifying the sources of this bias, in particular in the case of analysis of data issued from outbred populations. Analytical developments were carried out in a backcross situation in order to specify the bias and to propose an algorithm to control it. The outbred population context was studied through simulated data sets in a wide range of situations.
The likelihood ratio test was firstly analyzed under the "one QTL" hypothesis in a backcross population. Designs of sib families were then simulated and analyzed using the QTL Map software. On the basis of the theoretical results in backcross, parameters such as the population size, the density of the genetic map, the QTL effect and the true location of the QTL, were taken into account under the "no QTL" and the "one QTL" hypotheses. A combination of two non parametric tests - the Kolmogorov-Smirnov test and the Mann-Whitney-Wilcoxon test - was used in order to identify the parameters that affected the bias and to specify how much they influenced the estimation of QTL location.

Results
A theoretical expression of the bias of the estimated QTL location was obtained for a backcross type population. We demonstrated a common source of bias under the "no QTL" and the "one QTL" hypotheses and qualified the possible influence of several parameters. Simulation studies confirmed that the bias exists in outbred populations under both the hypotheses of "no QTL" and "one QTL" on a linkage group. The QTL location was systematically closer to marker locations than expected, particularly in the case of low QTL effect, small population size or low density of markers, i.e. designs with low power. Practical recommendations for experimental designs for QTL detection in outbred populations are given on the basis of this bias quantification. Furthermore, an original algorithm is proposed to adjust the location of a QTL, obtained with interval mapping, which co located with a marker.

Conclusions
Therefore, one should be attentive when one QTL is mapped at the location of one marker, especially under low power conditions.
Aestivation and hypoxia-related events share common silent neuron trafficking processes
Authors: Giusi Giuseppina , Zizza Merylin , Facciolo Rosa Maria , Chew Shit Fun , Ip Yuen Kwong , Canonaco Marcello 
Published: April 2012

AbstractBackgroundThe availability of oxygen is a limiting factor for neuronal survival since low levels account not only for the impairment of physiological activities such as sleep-wake cycle, but above all for ischemic-like neurodegenerative disorders. In an attempt to improve our knowledge concerning the type of molecular mechanisms operating during stressful states like those of hypoxic conditions, attention was focused on eventual transcriptional alterations of some key AMPAergic silent neuronal receptor subtypes (GluR1 and GluR2) along with HSPs and HIF-1α during either a normoxic or a hypoxic aestivation of a typical aquatic aestivator, i.e. the lungfish (Protopterus annectens).ResultsThe identification of partial nucleotide fragments codifying for both AMPA receptor subtypes inProtopterus annectensdisplayed a putative high degree of similarity to that of not only fish but also to those of amphibians, birds and mammals. qPCR andin situhybridization supplied a very high (p < 0.001) reduction of GluR1 mRNA expression in diencephalic areas after 6 months of aerial normoxic aestivation (6mAE). Concomitantly, high (p < 0.01) levels of HSP70 mRNAs in hypothalamic, mesencephalic and cerebellar areas of both 6mAE and after 6 months of mud hypoxic aestivation (6mMUD) were detected together with evident apoptotic signals. Surprisingly, very high levels of GluR2 mRNAs were instead detected in thalamic along with mesencephalic areas after 6 days of normoxic (6dAE) and hypoxic (6dMUD) aestivation. Moreover, even short- and long-term hypoxic states featured high levels of HIF-1α and HSP27 transcripts in the different brain regions of the lungfish.ConclusionsThe distinct transcriptional variations of silent neurons expressing GluR1/2 and HSPs tend to corroborate these factors as determining elements for the physiological success of normoxic and hypoxic aestivation. A distinct switching among these AMPA receptor subtypes during aestivation highlights new potential adaptive strategies operating in key brain regions of the lungfish in relation to oxygen availability. This functional relationship might have therapeutic bearings for hypoxia-related dysfunctions, above all in view of recently identified silent neuron-dependent motor activity ameliorations in mammals.
Gastric cancer cell supernatant causes apoptosis and fibrosis in the peritoneal tissues and results in an environment favorable to peritoneal metastases, in vitro and in vivo
Authors: Na Di , Lv Zhi-Dong , Liu Fu-Nan , Xu Yan , Jiang Cheng-Gang , Sun Zhe , Miao Zhi-Feng , Li Feng , Xu Hui-Mian 
Published: April 2012

Abstract

Background
In this study, we examined effects of soluble factors released by gastric cancer cells on peritoneal mesothelial cells in vitro and in vivo.

Methods
HMrSV5, a human peritoneal mesothelial cell line, was incubated with supernatants from gastric cancer cells. Morphological changes of HMrSV5 cells were observed. Apoptosis of HMrSV5 cells was observed under a transmission electron microscope and quantitatively determined by MTT assay and flow cytometry. Expressions of apoptosis-related proteins (caspase-3, caspase-8, Bax, bcl-2) were immunochemically evaluated.

Results
Conspicuous morphological changes indicating apoptosis were observed in HMrSV5 cells 24 h after treatment with the supernatants of gastric cancer cells. In vivo, peritoneal tissues treated with gastric cancer cell supernatant were substantially thickened and contained extensive fibrosis.

Conclusions
These findings demonstrate that supernatants of gastric cancer cells can induce apoptosis and fibrosis in HMrSV5 human peritoneal mesothelial cells through supernatants in the early peritoneal metastasis, in a time-dependent manner, and indicate that soluble factors in the peritoneal cavity affect the morphology and function of mesothelial cells so that the resulting environment can become favorable to peritoneal metastases.