bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuromyelitis optica and aquaporin‐4 (AQP4) autoantibodies in consecutive optic neuritis patients in Southern Finland
Authors: Siuko Mika , Tienari Pentti J. , Saastamoinen Kari‐Pekka , Atula Sari , Miettinen Aaro , Kivelä Tero , Setälä Kirsi 
Published: June 2013

Abstract.Purpose:  To analyse the frequency of neuromyelitis optica (NMO) among consecutive optic neuritis (ON) patients in Southern Finland and the feasibility of Aquaporin‐4 (AQP4) autoantibody assay in the diagnosis of NMO.Methods:  Consecutive patients with symptoms suggestive of acute ON and managed in the Helsinki University Central Hospital were evaluated critically screened for AQP4 autoantibody during a 47.5‐month period. The antibodies were determined using radioimmunoprecipitation method. AQP4 index >15 was considered positive, 10–15 borderline and <10 normal. Brain magnetic resonance imaging (MRI) was performed for all patients.Results:  Of the 300 patients with suspected ON, 191 were eventually diagnosed as ON, and 66 (35%) of them had a previous diagnosis or were diagnosed with multiple sclerosis (MS). Of the 125 patients without MS diagnosis, 62 (50%) had demyelinative lesions in MRI, which is a risk factor for developing MS. Two patients (1.1%; 95% CI 0.3–4.5) fulfilled the criteria of NMO. Positive AQP4 antibodies were found in three patients (1.6% 95% CI 0.3–4.5), one of them had NMO, one had MS and one became diagnosed with MS a month later. Borderline autoantibody levels were found in 10 patients, 7 of whom had MS.Conclusions:  NMO is rare among ON patients in the population of Southern Finland. In this small cohort, the sensitivity and positive predictive values of the AQP4 autoantibody index for NMO were low, 1/2 and 1/3 respectively, and do not support initiating routine screening.
An ancient explanation of presbyopia based on binocular vision
Authors: Barbero Sergio 
Published: June 2013

Abstract.Presbyopia, understood as the age‐related loss of ability to clearly see near objects, was known to ancient Greeks. However, few references to it can be found in ancient manuscripts. A relevant discussion on presbyopia appears in a book called Symposiacs written by Lucius Mestrius Plutarchus around 100 A.C. In this work, Plutarch provided four explanations of presbyopia, associated with different theories of vision. One of the explanations is particularly interesting as it is based on a binocular theory of vision. In this theory, vision is produced when visual rays, emanating from the eyes, form visual cones that impinge on the objects to be seen. Visual rays coming from old people’s eyes, it was supposed, are weaker than those from younger people’s eyes; so the theory, to be logically coherent, implies that this effect is compensated by the increase in light intensity due to the overlapping, at a certain distance, of the visual cones coming from both eyes. Thus, it benefits the reader to move the reading text further away from the eyes in order to increase the fusion area of both visual cones. The historical hypothesis taking into consideration that the astronomer Hipparchus of Nicaea was the source of Plutarch’s explanation of the theory is discussed.
Biological basis of suicide and suicidal behavior
Authors: Pandey Ghanshyam N 
Published: June 2013

ObjectiveSuicide is a major public health concern as each year 30000 people die by suicide in the USA alone. In the teenage population, it is the second leading cause of death. There have been extensive studies of psychosocial factors associated with suicide and suicidal behavior. However, very little is known about the neurobiology of suicide. Recent research has provided some understanding of the neurobiology of suicide, which is the topic of this review.MethodsNeurobiology of suicide has been studied using peripheral tissues such as platelets, lymphocytes, and cerebrospinal fluid obtained from suicidal patients or from the postmortem brains of suicide victims.ResultsThese studies have provided encouraging information with regard to the neurobiology of suicide. They show an abnormality of the serotonergic mechanism, such as increased serotonin receptor subtypes and decreased serotonin metabolites (e.g. 5‐hydroxyindoleacetic acid). These studies also suggest abnormalities of receptor‐linked signaling mechanisms such as phosphoinositide and adenylyl cyclase. Other biological systems that appear to be dysregulated in suicide involve the hypothalamic–pituitary–adrenal axis, and neurotrophins and neurotrophin receptors. More recently, several studies have also indicated abnormalities of neuroimmune functions in suicide.ConclusionsSome encouraging information emerged from the present review, primarily related to some of the neurobiological mechanisms mentioned above. It is hoped that neurobiological studies may eventually result in the identification of appropriate biomarkers for suicidal behavior as well as appropriate therapeutic targets for its treatment.
Phase II clinical trial for the evaluation of bortezomib within the reduced intensity conditioning regimen (RIC) and post‐allogeneic transplantation for high‐risk myeloma patients
Authors: Caballero‐Velázquez Teresa , López‐Corral Lucia , Encinas Cristina , Castilla‐Llorente Cristina , Martino Rodrigo , Rosiñol Laura , Sampol Antonia , Caballero Dolores , Serrano David , Heras Inmaculada , San Miguel Jesús , Pérez‐Simón José A. 
Published: June 2013

SummaryThe current study was designed to assess the safety and efficacy of bortezomib in combination with fludarabine and melphalan as reduced intensity conditioning before allogeneic stem cell transplantation in patients with high risk multiple myeloma. Sixteen patients were evaluable. The median number of previous line of treatment was 3; all patients had relapsed following a prior autograft and 13 had previously received bortezomib. Fifteen of them either remained stable or improved disease status at day +100 post‐transplant, including 11 patients with active disease. More specifically, nine patients (56%) and five patients (31%) reached complete remission and partial response, respectively. 25% developed grade III acute graft‐versus‐host disease. The cumulative incidence of non‐relapse mortality, relapse and overall survival were 25%, 54% and 41%, respectively, at 3 years. Regarding the non‐haematological toxicity (grade>2), two patients developed peripheral neuropathy, two patients liver toxicity and 1 pulmonary toxicity early post‐transplant. The haematological toxicity was only observed during the first three cycles mostly related to low haemoglobin and platelet levels. The current trial is the first one evaluating the safety and efficacy of bortezomib as part of a reduced intensity conditioning regimen among patients with high risk multiple myeloma.
Sickle cell disease: time for a closer look at treatment options?
Authors: Sheth Sujit , Licursi Maureen , Bhatia Monica 
Published: June 2013

SummaryTremendous progress has been made in the care of individuals with sickle cell over the past several decades. Major successes have been comprehensive infection prophylaxis, prediction and prevention of stroke, and better transfusion care, the latter including both prevention of alloimmunization and treatment of iron overload. However, definitive therapies remain limited to hydroxycarbamide (hydroxyurea) and stem cell transplantation, both of which have been in use for at least two decades. Despite knowing the progressive natural history of the disease with organ dysfunction, failure, and ultimately death at a young age, definitive therapies are considered for only a small proportion of individuals. Consequently, while life expectancy has improved dramatically from the last century, the ongoing pace of advancement has slowed or stalled. We believe that it is time to broaden the use of definitive therapy for those with asymptomatic disease, being cautiously more aggressive in our approach.
Tumour lysis syndrome and acute kidney injury in high‐risk haematology patients in the rasburicase era. A prospective multicentre study from the Groupe de Recherche en Réanimation Respiratoire et Onco‐Hématologique
Authors: Darmon Michael , Vincent François , Camous Laurent , Canet Emmanuel , Bonmati Caroline , Braun Thorsten , Caillot Denis , Cornillon Jérôme , Dimicoli Sophie , Etienne Anne , Galicier Lionel , Garnier Alice , Girault Stéphane , Hunault‐Berger Mathilde , Marolleau Jean‐Pierre , Moreau Philippe , Raffoux Emmanuel , Recher Christian , Thiebaud Anne , Thieblemont Catherine , Azoulay Elie ,   the Groupe de Recherche en Réanimation Respiratoire et Onco‐Hématologique (GRRR‐OH)
Published: June 2013

SummaryIn tumour lysis syndrome (TLS), metabolic alterations caused by the destruction of malignant cells manifest as laboratory abnormalities with (clinical TLS) or without (laboratory TLS) organ dysfunction. This prospective multicentre cohort study included 153 consecutive patients with malignancies at high risk for TLS (median age 54 years (interquartile range, 38–66). Underlying malignancies were acute leukaemia (58%), aggressive non‐Hodgkin lymphoma (29.5%), and Burkitt leukaemia/lymphoma (12.5%). Laboratory TLS developed in 17 (11.1%) patients and clinical TLS with acute kidney injury (AKI) in 30 (19.6%) patients. After adjustment for confounders, admission phosphates level (odds ratio [OR] per mmol/l, 5.3; 95% confidence interval [95% CI], 1.5–18.3), lactic dehydrogenase (OR per x normal, 1.1; 95%CI, 1.005–1.25), and disseminated intravascular coagulation (OR, 4.1; 95%CI, 1.4–12.3) were associated with clinical TLS; and TLS was associated with day‐90 mortality (OR, 2.45; 95%CI, 1.09–5.50; P = 0.03). In this study, TLS occurred in 30.7% of high‐risk patients. One third of all patients experienced AKI, for which TLS was an independent risk factor. TLS was associated with increased mortality, indicating a need for interventional studies aimed at decreasing early TLS‐related deaths in this setting.
Hypomethylation of the CTGF gene locus is a common feature of paediatric pre‐B acute lymphoblastic leukaemia
Authors: Welch Mathew D. , Greene Wayne K. , Kees Ursula R. 
Published: June 2013

SummaryThe connective tissue growth factor gene (CTGF) is aberrantly expressed in 75% of precursor B‐cell acute lymphoblastic leukaemias (pre‐B ALL) and is associated with poor outcome. We identified consistent hypomethylation of the CTGF locus in primary pre‐B ALL specimens regardless of CTGF expression. By contrast, primary T‐cell ALL specimens, which do not express CTGF, exhibited distinctive patterns of hypermethylation. Furthermore, we confirmed that global changes in DNA methylation and histone acetylation can both functionally modulate CTGF expression in pre‐B ALL cell lines. These data suggest that hypomethylation of the CTGF locus is an essential prerequisite for aberrant CTGF expression in pre‐B ALL.
Engaging young people with Autism Spectrum Disorder in research interviews
Authors: Harrington Caitlin , Foster Michele , Rodger Sylvia , Ashburner Jill 
Published: June 2013

Accessible summary

Listening to young people with autism spectrum disorder is important.

Researchers can help support young people to have their say.

Each young person is different. The supports used need to match their needs.

SummaryThis study draws on the first author's doctoral research on the mainstream schooling experiences of young people with autism spectrum disorder (ASD) and their parents in Queensland, Australia. The aims are to share some of the practical strategies that were adapted and developed to engage the young people in the research and to critically reflect on what this means for future inclusive methodological approaches in this area. The key message is that diagnostic‐related assumptions about impairments can lead researchers to develop strategies which exclude or restrict rather than maximise participation of disabled people in research. To enable young people with ASD to provide rich and meaningful insights researchers need to acknowledge and plan creatively and flexibly for the interactive dynamic that is unique to each individual as well as for needs which might be shared.
Histamine Modulation of Acute Nociception Involves Regulation of Nav1.8 in Primary Afferent Neurons in Mice
Authors: Yu Jie , Fang Qi , Lou Guo‐Dong , Shou Wen‐Ting , Yue Jia‐Xing , Tang Ying‐Ying , Hou Wei‐Wei , Xu Tian‐Le , Ohtsu Hiroshi , Zhang Shi‐Hong , Chen Zhong 
Published: June 2013

SummaryAimsTo explore the role of histamine in acute pain perception and its possible mechanisms.MethodsPain‐like behaviors induced by four types of noxious stimuli (hot‐plate, tail‐pressure, acetic acid, and formalin) were accessed in mice. Nav1.8 expression and functions in primary afferent neurons were compared between histidine decarboxylase knockout (HDC−/−) mice and their wild‐types.ResultsHDC−/− mice, lacking in endogenous histamine, showed elevated sensitivity to all these noxious stimuli, as compared with the wild‐types. In addition, a depletion of endogenous histamine with α‐fluoromethylhistidine (α‐FMH), a specific HDC inhibitor, or feeding mice a low‐histamine diet also enhanced nociception in the wild‐types. Nav1.8 expression in primary afferent neurons was increased both in HDC−/− and in α‐FMH‐treated wild‐type mice. A higher Nav1.8 current density, a lower action potential (AP) threshold, and a higher firing rate in response to suprathreshold stimulation were observed in nociception‐related small DRG neurons of HDC−/− mice. Nav1.8 inhibitor A‐803467, but not TTX, diminished the hyperexcitability and blocked repetitive AP firing of these neurons.ConclusionOur results indicate that histamine participates in acute pain modulation in a dose‐related manner. The regulation of Nav1.8 expression and the excitability of nociceptive primary afferent neurons may be involved in the underlying mechanisms.
An Association Study on ADAM10 Promoter Polymorphisms and Atherosclerotic Cerebral Infarction in a Chinese Population
Authors: Li You , Liao Feng , Yin Xiao‐Jian , Cui Li‐Li , Ma Guo‐Da , Nong Xiao‐Xian , Zhou Hai‐Hong , Chen Yan‐Fang , Zhao Bin , Li Ke‐Shen 
Published: June 2013

SummaryAimDysregulation of the activity of the disintegrin/metalloproteinase ADAM10 could contribute to the development of atherosclerosis. Although a number of genetic studies have focused on the association of ADAM10 gene polymorphisms with susceptibility to diseases, no genetic association studies of ADAM10 gene variability with atherosclerotic cerebral infarction (ACI) have been conducted. The aim of this study was to analyze the potential association between ADAM10 promoter polymorphisms and ACI.MethodsThe associations between rs653765 and rs514049 polymorphisms of the ADAM10 promoter and the possible risk of ACI were assessed among 347 patients with ACI and 299 matched healthy individuals in a case–control study.ResultsOverall, there was a significant difference in the genotypes frequencies of rs653765 (P = 0.04) between the ACI and control subjects. In addition, the rs653765 mutated allele of ADAM10 was significantly associated with increased ADAM10 expression in patients with ACI (P = 0.032). In contrast, the allele frequency of rs514049 was not statistically associated with ACI, and the rs514049 variant A > C did not affect the expression of ADAM10 either.ConclusionOur findings indicate a positive association between the rs653765 polymorphism of ADAM10 and ACI, as well as a negative result for rs514049. In addition, a significant increase in ADAM10 expression was observed in patients with ACI carrying the rs653765 C > T mutation. This new knowledge about ADAM10 might be clinically important and confirm a role for ADAM10 in the pathophysiology of ACI, with potentially important therapeutic implications.
Transcriptome of an Armillaria root disease pathogen reveals candidate genes involved in host substrate utilization at the host–pathogen interface
Authors: Ross‐Davis A. L. , Stewart J. E. , Hanna J. W. , Kim M.‐S. , Knaus B. J. , Cronn R. , Rai H. , Richardson B. A. , McDonald G. I. , Klopfenstein N. B. 
Published: June 2013

SummaryArmillaria species display diverse ecological roles ranging from beneficial saprobe to virulent pathogen. Armillaria solidipes (formerly A. ostoyae), a causal agent of Armillaria root disease, is a virulent primary pathogen with a broad host range of woody plants across the Northern Hemisphere. This white‐rot pathogen grows between trees as rhizomorphs and attacks sapwood as mycelial fans under the bark. Armillaria root disease is responsible for reduced forest productivity due to direct tree mortality and non‐lethal infections that impact growth. Here, we characterize a transcriptome of a widespread, virulent genet (vegetative clone) of A. solidipes isolated from a mycelial fan on a natural grand fir (Abies grandis) sapling in northern Idaho, USA. cDNA from polyA+‐purified total RNA was sequenced using a single‐end read approach on the Illumina GAIIx platform which generated 24 170 384 reads. A BLASTx search against the NCBI nr database using 39 943 de novo assembled contigs resulted in 24 442 sequences with significant hits (e‐value < 1e−3), predominantly to fungi (85%). A filtered data set of 20 882 assembled transcripts that encoded putative homologous fungal proteins was created and used for all subsequent analyses. Signal P identified 10 668 putative signal peptides from these fungal transcripts, and 14 360 were annotated with gene ontology terms. Several sequences showed strong homology to annotated genes with functions in pathogenesis, specifically those involved in plant cell wall degradation and response to the post‐infection host environment. This transcriptome contributes to the growing body of resources for studies on fungal pathogens of woody plants, and our results provide useful insights towards identifying specific genes with potential roles associated with pathogenesis and other metabolic functions.
Development of a quantitative real‐time PCR assay for the detection of Phytophthora austrocedrae, an emerging pathogen in Britain
Authors: Mulholland V. , Schlenzig A. , MacAskill G. A. , Green S. 
Published: June 2013

SummaryA TaqMan real‐time PCR assay was developed for Phytophthora austrocedrae, an emerging pathogen causing severe damage to juniper in Britain. The primers amplified DNA of the target pathogen down to 1 pg of extracted DNA, in both the presence and absence of host DNA, but did not amplify any of the non‐target Phytophthora and fungal species tested. The assay provides a useful tool for screening juniper populations for the disease.
Polymorphisms in TREX1 and susceptibility to HIV‐1 infection
Authors: Pontillo A. , Girardelli M. , Catamo E. , Duarte A. J. , Crovella S. 
Published: June 2013

SummaryTREX‐1 is a restriction factor against HIV‐1. The coding sequence of TREX1 gene was analysed in HIV+ subjects searching for genetic variations possibly associated with the susceptibility to HIV infection. The single nucleotide polymorphism rs3135945 was significantly associated with HIV infection, emphasizing the involvement of TREX‐1 in the anti‐HIV response.
LH750 hematology analyzers to identify malaria and dengue and distinguish them from other febrile illnesses
Authors: Sharma P. , Bhargava M. , Sukhachev D. , Datta S. , Wattal C. 
Published: June 2013

SummaryIntroductionTropical febrile illnesses such as malaria and dengue are challenging to differentiate clinically. Automated cellular indices from hematology analyzers may afford a preliminary rapid distinction.MethodsBlood count and VCS parameters from 114 malaria patients, 105 dengue patients, and 105 febrile controls without dengue or malaria were analyzed. Statistical discriminant functions were generated, and their diagnostic performances were assessed by ROC curve analysis.ResultsThree statistical functions were generated: (i) malaria‐vs.‐controls factor incorporating platelet count and standard deviations of lymphocyte volume and conductivity that identified malaria with 90.4% sensitivity, 88.6% specificity; (ii) dengue‐vs.‐controls factor incorporating platelet count, lymphocyte percentage and standard deviation of lymphocyte conductivity that identified dengue with 81.0% sensitivity and 77.1% specificity; and (iii) febrile‐controls‐vs.‐malaria/dengue factor incorporating mean corpuscular hemoglobin concentration, neutrophil percentage, mean lymphocyte and monocyte volumes, and standard deviation of monocyte volume that distinguished malaria and dengue from other febrile illnesses with 85.1% sensitivity and 91.4% specificity.ConclusionsLeukocyte abnormalities quantitated by automated analyzers successfully identified malaria and dengue and distinguished them from other fevers. These economic discriminant functions can be rapidly calculated by analyzer software programs to generate electronic flags to trigger‐specific testing. They could potentially transform diagnostic approaches to tropical febrile illnesses in cost‐constrained settings.
Pre‐release risk assessment of the egg‐parasitoid Gryon pennsylvanicum for classical biological control of Leptoglossus occidentalis
Authors: Roversi P. F. , Sabbatini Peverieri G. , Maltese M. , Furlan P. , Strong W. B. , Caleca V. 
Published: June 2013

AbstractLeptoglossus occidentalis Heidemann (Heteroptera: Coreidae) is a North American conifer seed pest that was accidentally introduced to Europe. In the Mediterranean area, it threatens the production of Pinus pinea Linnaeus seeds. The egg‐parasitoid Gryon pennsylvanicum (Ashmead) (Hymenoptera: Platygastridae), the main natural enemy in the native range of L. occidentalis, was imported from British Columbia to Italy. Pre‐release risk assessments were made under quarantine conditions by no‐choice tests conducted with naïve and experienced G. pennsylvanicum offering single eggs of target and non‐target species for varying exposure times (1, 4, 48 h). G. pennsylvanicum successfully parasitized from 75% to 100% of the target host eggs. Only one female specimen of the egg‐parasitoid emerged from a non‐target egg (Gonocerus juniperi Herrich‐Schaeffer, Heteroptera: Coreidae). Two dead female specimens were found, one inside an egg of Coreus marginatus (Linnaeus) (Heteroptera: Coreidae) and one in an egg of Camptopus lateralis (Germar) (Heteroptera: Alydidae). All three cases occurred at the longest oviposition exposure time. Results obtained with this conservative approach suggest that the risk to non‐target species of releasing G. pennsylvanicum in Italy is low.
Phylogeny and Establishment of a New Ciliate Family, Wilbertomorphidae fam. nov. (Ciliophora, Karyorelictea), a Highly Specialized Taxon Represented by Wilbertomorpha colpoda gen. nov., spec. nov.
Authors: Xu Yuan , Li Jiamei , Song Weibo , Warren Alan 
Published: June 2013

AbstractThe morphology and molecular phylogeny of a new marine interstitial karyorelictean ciliate, Wilbertomorpha colpoda gen. nov., spec. nov., isolated from a sandy beach at Qingdao, China, are investigated. The ciliature is mainly on the right surface with the left surface barren except for a single marginal kinety, which is typical of the order Loxodida. Nevertheless, other morphological features, such as the highly reduced buccal structure, the absence of a buccal cavity and the presence of extremely specialized cortical granules, prevent its assignation to any known family. Furthermore, the secondary structure of the variable region 2 of the SSU rRNA gene is unique among loxodids. Thus, we establish a new family, Wilbertomorphidae fam. nov. for the genus Wilbertomorpha. Phylogenetic analyses based on SSU rRNA gene sequence data suggest that this taxon is a sister group to the family Geleiidae which belongs to the order Protoheterotrichida. However, morphologically Wilbertomorpha bears a much stronger resemblance to Loxodidae which belongs to the order Loxodida. Based on these findings, we tentatively place Wilbertomorphidae nov. fam. incertae sedis within Karyorelictea.