bluuebunny/crossref_metadata_2025_split huggingface dataset:
Primary familial brain calcification: Genetic analysis and clinical spectrum
Authors: Taglia Ilaria , Mignarri Andrea , Olgiati Simone , Menci Elisabetta , Petrocelli Patrizia L. , Breedveld Guido J. , Scaglione Cesa , Martinelli Paolo , Federico Antonio , Bonifati Vincenzo , Dotti Maria Teresa 
Published: October 2014

ABSTRACTBackgroundPrimary familial brain calcification (PFBC) is a rare autosomal dominant disorder with bilateral calcification of basal ganglia and other cerebral regions, movement disorders, and neuropsychiatric disturbances. So far, three causative genes have been discovered: SLC20A2, PDGFRB and PDGFB, accounting for approximately 50% of cases.MethodsSeven unrelated families with primary brain calcification were recruited to undergo clinical and genetic analysis, including Sanger sequencing of SLC20A2, PDGFRB, and PDGFB, and copy number analysis of SLC20A2.ResultsMutations in SLC20A2 have been detected in three families: p.Glu368Glyfs*46, p.Ser434Trp, and p.Thr595Met. Intrafamilial phenotype variability has been observed. In spite of this, we found similar neuroimaging pattern among members of the same family.ConclusionsThis molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification, and suggests the existence of disease‐causing mutations in at least another, still unknown gene. © 2014 International Parkinson and Movement Disorder Society
Cover time of a random graph with a degree sequence II: Allowing vertices of degree two
Authors: Cooper Colin , Frieze Alan , Lubetzky Eyal 
Published: October 2014

AbstractWe study the cover time of a random graph chosen uniformly at random from the set of graphs with vertex set [n] and degree sequence . In a previous work (Abdullah, Cooper, and Frieze, Discrete Math 312 (2012), 3146–3163), the asymptotic cover time was obtained under a number of assumptions on d, the most significant being that di ≥ 3 for all i. Here we replace this assumption by di ≥ 2. As a corollary, we establish the asymptotic cover time for the 2‐core of the emerging giant component of . © 2014 Wiley Periodicals, Inc. Random Struct. Alg., 45, 627–674, 2014
Influence of a Diet Enriched with Perilla Seed Bran on the Composition of Omega‐3 Fatty Acid in Nile Tilapia
Authors: dos Santos Hevelyse Munise Celestino , Nishiyama Márcia Fernandes , Bonafe Elton Guntendorfer , de Oliveira Carlos Antonio Lopes , Matsushita Makoto , Visentainer Jesui Vergilio , Ribeiro Ricardo Pereira 
Published: October 2014

AbstractThis study evaluated the effect of inclusion of perilla seed bran (PSB) in the diet of Nile tilapia genetically improved farmed tilapia (GIFT) on the concentration of fatty acid n‐3 polyunsaturated fatty acids (PUFAs) according to the function of feeding time. The GIFT were cultivated in net cages for 60 days using a control diet with soybean oil and supplemented with PSB. Analyses of the proximate composition and quantification of fatty acids (mg g−1of total lipids) were performed in muscle tissue every 15 days. The PSB diet influenced the lipid composition of GIFT fillets by linolenic acid incorporation, which was approximately 384 %, resulting in an increase of 5.2 times the sum of n‐3 PUFA. On the other hand, there was a decrease in the sum of saturated fatty acids. During treatment, there was a continuous increase in n‐3 PUFA, proving the influence of feeding time in the lipid composition of GIFT fillets. The indices of the lipid quality of fillets coming from fish fed the PSB diet were improved. Of these indices, a n‐6/n‐3 ratio presented a significant reduction of 74.15 %, proving the quality of the dietary lipid. Therefore, the inclusion of PSB significantly altered the fatty acid muscle tissue composition of GIFT during feeding time, contributing to an increase in its nutritional value.
Modulation of inflammation response to murine cutaneous Leishmaniasis by homeopathic medicines: Antimonium crudum 30cH
Authors: Rodrigues de Santana Fabiana , de Paula Coelho Cidéli , Cardoso Thayná Neves , Perez Hurtado Elizabeth Cristina , Roberti Benites Nilson , Dalastra Laurenti Marcia , Villano Bonamin Leoni 
Published: October 2014

Background: Leishmaniasis is a zoonotic disease caused by protozoan parasites of the mononuclear phagocytic system. The modulation activity of these cells can interfere in the host/parasite relationship and influences the prognosis.Methods: We evaluated the effects of the homeopathic preparation Antimonium crudum 30cH on experimental infection induced by Leishmania (L.) amazonensis. Male Balb/c mice were inoculated with 2 × 106 Leishmania (L.) amazonensis promastigotes into the footpad and, after 48 h (acute phase) or 60 days (chronic phase), cell population of lymphocytes and phagocytes present in the peritoneal washing fluid and spleen were analyzed by flow cytometry and histopathology, with histometry of the subcutaneous primary lesion, local lymph node and spleen. Immunohistochemistry was performed to quantify CD3 (T lymphocyte), CD45RA (B lymphocyte) and CD11b (phagocytes) positive cells.Results: In treated mice, during the acute phase, there was significant increase of the macroscopic lesion, associated to inflammatory edema, as well increase in the number of free amastigotes and B lymphocytes inside the lesion. Increase of B lymphocytes (predominantly B-2 cells) was also seen in the local lymph node, spleen and peritoneum. In the chronic phase, the inflammatory process in the infection focus was reduced, with reduced phagocyte migration and peritoneal increase of B-1a cells (precursors of B-2 immunoglobulin producers cells) and T CD8+ cells.Conclusion: The treatment of mice with Antimonium crudum 30cH induced a predominantly B cell pattern of immune response in Leishmania (L.) amazonensis experimental infection, alongside the increase of free amastigote forms number in the infection site. The clinical significance of this study is discussed, further studies are suggested.
Proportion of cervical excision for cervical intraepithelial neoplasia as a predictor of pregnancy outcomes
Authors: Kyrgiou Maria , Valasoulis George , Stasinou Sofia‐Melina , Founta Christina , Athanasiou Antonios , Bennett Phillip , Paraskevadis Evangelos 
Published: October 2014

AbstractObjectiveTo assess how the proportion of the cervical volume/length removed during treatment for cervical intraepithelial neoplasia (CIN) varies and whether this correlates to the pregnancy duration at delivery.MethodsThe present prospective observational study included 142 women undergoing CIN treatment at a university hospital during 2009–2013. The pretreatment and post‐treatment cervical dimensions and cone size were measured with magnetic resonance imaging, three‐dimensional transvaginal ultrasonography, or two‐dimensional transvaginal ultrasonography, and the correlation between pregnancy outcomes and the relative proportion of the cervix excised was assessed.ResultsPretreatment cervical volumes and cone volumes varied substantially (range 11–40 cm3 and 0.6–8 cm3, respectively). The proportion of the volume excised ranged from 2.2% to 39.4%. Sixteen (11%) women conceived following treatment; 12 had a live birth (seven at term, three preterm). The pregnancy duration at delivery was significantly correlated with the proportion of the cervical volume (r = −0.9; P < 0.001) and length (r = −0.7; P = 0.01) excised and the cone volume (r = −0.6; P = 0.04).ConclusionThe pretreatment cervical dimensions and the proportions of the volume/length excised vary substantially, and the latter correlates with the pregnancy duration. Assessment of the proportion excised might help to stratify women at risk who need intensive surveillance when pregnant.
Effectiveness of an educational intervention on the suitability of indications for cesarean delivery in a Brazilian teaching hospital
Authors: Marquini Gisele V. , Jorge Miguel T. , Pinto Rogério M.C. 
Published: October 2014

AbstractObjectiveTo evaluate the effectiveness of an intervention to adjust the indications for caesarean delivery in a Brazilian teaching hospital in accordance with a specific protocol.MethodsThe present before‐and‐after study was carried out in three stages. In stages 1 and 3, data were obtained for 160 cesarean deliveries that occurred between May 20 and July 10 in 2011 and 2012, respectively. For stage 2, the protocol was implemented for 12 months. The deliveries in stages 1 and 3 were classified as high or low risk, and as consistent or inconsistent clinical cases on the basis of the protocol.ResultsA total of 160 (61.1%; 95% confidence interval [CI] 55.2–67.0) of 262 deliveries in stage 1 were by cesarean, compared with 160 (71.4%; 95% CI 65.5–77.3) of 224 in stage 3 (P = 0.67). In stage 1, 125 (78.1%; 95% CI 71.7–84.5) showed indications consistent with the protocol, compared with 136 (85.0%; 95% CI 79.5–90.5) in stage 3 (P = 0.11). Among the low‐risk cesarean deliveries, 27 (51.9%; 95% CI 38.3–65.5) of 52 were consistent with the protocol in stage 1, compared with 49 (72.1%; 95% CI 61.4–86.1) of 68 in stage 3 (P = 0.02).ConclusionThe proposed intervention improved the suitability of indications for cesarean delivery among low‐risk pregnancies only.
A longitudinal study of unplanned pregnancy in a maternity hospital setting
Authors: McKeating Aoife , Crosby David A. , Collins Martha , O'Higgins Amy , McMahon Léan , Turner Michael J. 
Published: October 2014

AbstractObjectiveTo review family planning in a cohort of women who delivered a second child within 3 years of their first.MethodsA longitudinal, observational study included women aged at least 18 years who had delivered a singleton weighing at least 500 g in 2009 after their first pregnancy at a hospital in Dublin, Ireland, and who returned to the hospital for prenatal care for a second pregnancy before January 2012. Logistic regression analyses were performed to examine the effect of maternal characteristics on pregnancy intention.ResultsOf 3284 primigravidas who delivered in 2009, 1220 (37.1%) returned with a second pregnancy. The second pregnancy was unplanned in 248 (20.3%) women, and both pregnancies were unplanned in 124 (10.2%). The second pregnancy was more likely to be unplanned in women whose first pregnancy was also unplanned than in those whose first was planned (adjusted odds ratio 6.5; 95% confidence interval 4.6–8.4; P < 0.001). Among the 99 women with recurrent unplanned pregnancy who had not been using contraception before the first pregnancy, 85 (85.9%) were also not using contraception before the second.ConclusionWomen whose first pregnancy is unplanned are at increased risk of subsequent unplanned pregnancies. Postnatal contraceptive advice in this high‐risk group should be prioritized.
The prevalence of sexually transmitted infections among migrant female patients in Italy
Authors: Laganà Antonio S. , Gavagni Valeria , Musubao Justine V. , Pizzo Alfonsa 
Published: October 2014

AbstractObjectiveTo evaluate the prevalence of several sexually transmitted infections (STIs) among migrant women incoming to Italy.MethodsA single‐center, prospective, observational study was conducted of migrant women who had attended an outpatient clinic in Messina, Italy, between January 1, 2003, and December 31, 2013. Participants underwent a gynecologic examination and a cervical smear test. Patients who showed cytologic alterations underwent human papillomavirus (HPV) typing by PCR and allele‐specific hybridization. Routine tests for hepatitis B virus (HBV), hepatitis C virus (HCV), HIV, and syphilis were done for pregnant participants.ResultsOverall, 724 women were enrolled, of whom 320 (44.2%) were pregnant. The mean ± SD age was 33.1 ± 9.8 years. Cytologic abnormalities were recorded for 76 (10.5%) participants. Among 46 who attended a follow‐up clinic, 32 (69.6%) tested positive for HPV serotypes. Among the pregnant women, 9 (2.8%) had HBV infection, 3 (0.9%) had HCV infection, and 1 (0.3%) had HIV infection. No cases of syphilis were recorded.ConclusionThe prevalence of STIs among migrant women in Messina is similar to that among nonmigrants.
Phyllosomata associated with large gelatinous zooplankton: hitching rides and stealing bites
Authors: O'Rorke Richard , Lavery Shane D. , Wang Miao , Gallego Ramón , Waite Anya M. , Beckley Lynnath E. , Thompson Peter A. , Jeffs Andrew G. 
Published: October 2014

AbstractDuring a zooplankton survey 350 km off the coast of Western Australia, we captured a large and robust zooid of a salp (Thetys vagina), to which six late stage larvae (phyllosomata) of the western rock lobster (Panulirus cygnus) were attached. High-throughput sequencing analyses of DNA extracts from midgut glands of the larvae confirmed that each phyllosoma had consumed mainly salp tissue (x¯ = 64.5% ± 15.9 of DNA reads). These results resolve long-standing conjecture whether spiny lobster phyllosomata attach to large gelatinous hosts to feed on them.
A review of the past, the present, and the future of fishers' knowledge research: a challenge to established fisheries science
Authors: Hind Edward J. 
Published: October 2014

AbstractFishers' knowledge research is an approach to fisheries research that has a relatively long history, yet has generally failed to become integrated into the fisheries science mainstream alongside approaches that rely primarily on the knowledge of professional scientists. Its continued position on the margins of fisheries science has not however stopped fishers' knowledge researchers from publishing an expanding literature, which they often use to advocate for the greater consideration of fishers' knowledge by fisheries scientists and managers. They believe that the unique and often highly qualitative knowledge of fishers could inform better decision-making, resulting in improved socio-ecological outcomes for fisheries. This review first outlines the scope of the fishers' knowledge literature, before outlining five waves of fishers' knowledge research that have developed over the last century. For each wave, the nature of the fishers' knowledge documented during it is noted, as is the research and dissemination approach taken by its practitioners. The impact of that wave on mainstream fisheries science is then assessed. Overall, it is found that only one wave of fishers' knowledge research is beginning to have consistent success integrating with mainstream fisheries science, a wave that omits the research of many of the unique elements of fishers' knowledge. Other waves have died out, or are in danger of dying out, either because they have failed to be noticed by mainstream fisheries scientists or because mainstream fisheries scientists have not welcomed their outputs. It is summarized that fishers' knowledge research will only continue as a productive activity if mainstream fisheries scientists begin to open their discipline to other knowledge cultures and if fishers' knowledge researchers facilitate this action by disseminating their research so that it is more accessible to these scientists.
Movements of female lumpfish (Cyclopterus lumpus) around Iceland
Authors: Kennedy James , Jónsson Sigurður Þ. , Kasper Jacob M. , Ólafsson Halldór G. 
Published: October 2014

Abstract
Lumpfish (Cyclopterus lumpus) migrate from their offshore feeding areas to the coastal areas of Iceland during March and April where they remain for several months before spawning. Their movements during this time are poorly documented. Using the results of an extensive tag-recapture study (the largest documented for lumpfish) which took place between 2008 and 2014, the movement of female lumpfish around Iceland was investigated and the implications for fisheries management were considered. Of 9710 female fish tagged, 880 were recaptured and 82 of these were recaptured after more than 250 days at liberty (DAL). There was a negative relationship between length at tagging and recapture rate indicating that between 2008 and 2014, the fishery was selecting for smaller fish. Lumpfish showed extensive movements with fish tagged in coastal areas being recaptured up to 587 km from their tagging location and were capable of swimming up to 49 km day−1. Fish were most frequently caught in the area in which they were tagged; however, movement between areas was common. There were indications of homing behaviour with 75% of the fish, which were recaptured after 250 DAL, caught within 80 km of their tagging location. Fish which were tagged offshore before the fishing season showed no clear pattern of where they would be recaptured. These extensive movements and homing behaviour are discussed in the context of the management of the lumpfish fishery.
Multi-model ensemble projections of climate change effects on global marine biodiversity
Authors: Jones Miranda C. , Cheung William W. L. 
Published: October 2014

AbstractSpecies distribution models (SDMs) are important tools to explore the effects of future global changes in biodiversity. Previous studies show that variability is introduced into projected distributions through alternative datasets and modelling procedures. However, a multi-model approach to assess biogeographic shifts at the global scale is still rarely applied, particularly in the marine environment. Here, we apply three commonly used SDMs (AquaMaps, Maxent, and the Dynamic Bioclimate Envelope Model) to assess the global patterns of change in species richness, invasion, and extinction intensity in the world oceans. We make species-specific projections of distribution shift using each SDM, subsequently aggregating them to calculate indices of change across a set of 802 species of exploited marine fish and invertebrates. Results indicate an average poleward latitudinal shift across species and SDMs at a rate of 15.5 and 25.6 km decade−1 for a low and high emissions climate change scenario, respectively. Predicted distribution shifts resulted in hotspots of local invasion intensity in high latitude regions, while local extinctions were concentrated near the equator. Specifically, between 10°N and 10°S, we predicted that, on average, 6.5 species would become locally extinct per 0.5° latitude under the climate change emissions scenario Representative Concentration Pathway 8.5. Average invasions were predicted to be 2.0 species per 0.5° latitude in the Arctic Ocean and 1.5 species per 0.5° latitude in the Southern Ocean. These averaged global hotspots of invasion and local extinction intensity are robust to the different SDM used and coincide with high levels of agreement.
A novel function of interferon regulatory factor-1: inhibition of Th2 cells by down-regulating theIl4gene duringListeriainfection
Authors: Maruyama Saho , Kanoh Makoto , Matsumoto Akira , Kuwahara Makoto , Yamashita Masakatsu , Asano Yoshihiro 
Published: October 2014

AbstractInfection with certain pathogens induces a shift of the Th subset balance to a Th1 dominant state. This, in turn, results in the suppression of Th2 responses. We focused on the involvement of interferon regulatory factor-1 (IRF-1) in the suppression of Th2 cells during Listeria infection. We found that the inhibition of IL-4 production by Th2 cells is mediated by a soluble factor (LmSN) produced by Listeria-infected antigen-presenting cells. The inhibition is not observed with T cells from Irf1 gene-targeted mice. IRF-1 suppresses transcription of the Il4 gene in Th2 cells. Under the influence of the LmSN, IRF-1 binds to the 3ʹ untranslated region (UTR) region of the Il4 gene and down-regulates Il4 gene transcription. Finally, we identified IL-1α and IL-1β as the mediator of the LmSN activity. Signaling through IL-1R induces the stabilization and/or nuclear translocation of IRF-1. We propose that IRF-1 functions to induce the T-cell subset shift via a novel mechanism. Under the influence of IL-1, IRF-1 translocates into the nucleus and acts on the 3ʹUTR region of the Il4 gene, thus inhibiting its transcription in Th2 cells. As a result, the immune system shifts predominantly to a Th1 response during Listeria infection, resulting in effective protection of the host.
Biological Effects of Anti-Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF) Antibody Formation in Patients Treated With GM-CSF (Sargramostim) as Adjuvant Therapy of Melanoma
Authors: Spitler Lynn E. , Cao Huynh , Piironen Timo , Whiteside Theresa L. , Weber Robert W. , Cruickshank Scott 
Published: October 2014

Objectives:
We investigated the development of binding and neutralizing antibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) in patients receiving prolonged therapy with GM-CSF as adjuvant therapy of melanoma and the impact of these antibodies on biological effects.

Methods:
Fifty-three patients with high-risk melanoma that had been surgically excised were treated with GM-CSF, 125 μg/m2 daily for 14 days every 28 days for 1 year after surgical resection of disease. Serum samples for antibodies to GM-CSF were measured before treatment and on study days 155 and 351. Blood draws for testing biological effects were keyed to GM-CSF administration: days 0 (before), 15 (after 14 d on GM-CSF), 29 (after 14 d off GM-CSF), 155, and 351 (after 14 d on GM-CSF in the sixth and 13th cycle of treatment).

Results:
Of 53 patients enrolled, 43 were evaluable for the development of anti-GM-CSF antibodies. Of these, 93% developed binding antibodies and 42% developed both binding and neutralizing antibodies. The increase in the white blood cell count, percent eosinophils, or neopterin levels engendered by GM-CSF administration was abrogated or markedly decreased in patients with neutralizing antibodies but not in patients who developed only binding antibodies.

Conclusions:
Ninety-three percent of patients with melanoma treated with GM-CSF as adjuvant therapy develop antibodies to GM-CSF. In those with neutralizing antibodies, a diminution of the biological effects of GM-CSF was observed. The development of neutralizing antibodies might also abrogate the potential clinical benefit of this treatment and should be considered in the design of future clinical trials.
Inference of evolutionary forces acting on human biological pathways
Authors: Daub J.T. , Dupanloup I. , Robinson-Rechavi M. , Excoffier L. 
Published: October 2014

AbstractBecause natural selection is likely to act on multiple genes underlying a given phenotypic trait, we study here the potential effect of ongoing and past selection on the genetic diversity of human biological pathways. We first show that genes included in gene sets are generally under stronger selective constraints than other genes and that their evolutionary response is correlated. We then introduce a new procedure to detect selection at the pathway level based on a decomposition of the classical McDonald-Kreitman test extended to multiple genes. This new test, called 2DNS, detects outlier gene sets and takes into account past demographic effects as well as evolutionary constraints specific to gene sets. Selective forces acting on gene sets can be easily identified by a mere visual inspection of the position of the gene sets relative to their 2D null distribution. We thus find several outlier gene sets that show signals of positive, balancing, or purifying selection, but also others showing an ancient relaxation of selective constraints. The principle of the 2DNS test can also be applied to other genomic contrasts. For instance, the comparison of patterns of polymorphisms private to African and non-African populations reveals that most pathways show a higher proportion of non-synonymous mutations in non-Africans than in Africans, potentially due to different demographic histories and selective pressures.