bluuebunny/crossref_metadata_2025_split huggingface dataset:
MN typing discrepancies based on GYPA‐B‐A hybrid
Authors: Polin H. , Danzer M. , Reiter A. , Brisner M. , Gaszner W. , Weinberger J. , Gabriel C. 
Published: June 2014

Background and ObjectivesGene conversion events between GYPA and GYPB or GYPA and GYPE are facilitated by the close chromosomal proximity and high degree of sequence homology and can lead to the formation of GP hybrid genes. Discrepant results between blood group genotyping and haemagglutination in 22 random blood donors induced molecular characterization.Materials and MethodsSequence analysis of GYPA exons 1–7 and GYPB exons 1–5 was performed for gDNA and cDNA. The linkage of the nucleotide alterations was defined by haplotype separation.ResultsDNA analysis demonstrated a normal GYPA haplotype (GYPA*N n = 20, GYPA*M n = 2) with an altered GP hybrid nucleotide sequence in trans. A GYPB homologue sequence of minimal 10‐bp encompassing intron 1 and exon 2 was translated into GYPA, accounting for an amino acid substitution from arginine to glutamic acid at position 13 (38 C>A). Genomic DNA analysis demonstrated the cis‐linkage of the hybrid nucleotide sequence with each GYPA(Ser20, Gly24) (n = 20) associated with the expression of M and GYPA(Leu20, Glu24) (n = 2) encoding the N phenotype. The serologic data indicate that the changes do not affect the expression of a normal M and N antigen. cDNA sequences confirmed the gDNA results and furthermore identified a heterozygous deletion of GYPB exon 2 in all probands.ConclusionThe results document a GYPA‐B‐A hybrid gene, probably produced via a single unequal homologous recombination event. A segmental transfer of GYPB seems most likely accounting for the allelic dropout.
Evaluating -functions with few known coefficients
Authors: Farmer David W. , Ryan Nathan C. 
Published: June 2014

AbstractWe address the problem of evaluating an $L$-function when only a small number of its Dirichlet coefficients are known. We use the approximate functional equation in a new way and find that it is possible to evaluate the $L$-function more precisely than one would expect from the standard approach. The method, however, requires considerably more computational effort to achieve a given accuracy than would be needed if more Dirichlet coefficients were available.
High-rank elliptic curves with torsion induced by Diophantine triples
Authors: Dujella Andrej , Peral Juan Carlos 
Published: June 2014

AbstractWe construct an elliptic curve over the field of rational functions with torsion group$\mathbb{Z}/2\mathbb{Z}\times \mathbb{Z}/4\mathbb{Z}$and rank equal to four, and an elliptic curve over$\mathbb{Q}$with the same torsion group and rank nine. Both results improve previous records for ranks of curves of this torsion group. They are obtained by considering elliptic curves induced by Diophantine triples.
Identification of a Novel HIV-1 Circulating Recombinant Form (CRF72_BF1) in Deep Sequencing Data from Blood Donors in Southeastern Brazil
Authors: Pessôa Rodrigo , Carneiro Proietti Anna Bárbara de Freitas , Busch Michael P. , Sanabani Sabri S. 
Published: June 2014

ABSTRACT
We report the identification of a novel HIV-1 circulating recombinant form (CRF72_BF1) in deep sequencing data from peripheral blood mononuclear cells (PBMC) of five blood donors in southeastern Brazil. Detection of this circulating recombinant form (CRF) confirms the need for effective surveillance to monitor the prevalence and distribution of HIV variants in a variety of settings in Brazil.
Forecasting the burden of type 2 diabetes in Singapore using a demographic epidemiological model of Singapore
Authors: Phan Thao P , Alkema Leontine , Tai E Shyong , Tan Kristin H X , Yang Qian , Lim Wei-Yen , Teo Yik Ying , Cheng Ching-Yu , Wang Xu , Wong Tien Yin , Chia Kee Seng , Cook Alex R 
Published: June 2014

ObjectiveSingapore is a microcosm of Asia as a whole, and its rapidly ageing, increasingly sedentary population heralds the chronic health problems other Asian countries are starting to face and will likely face in the decades ahead. Forecasting the changing burden of chronic diseases such as type 2 diabetes in Singapore is vital to plan the resources needed and motivate preventive efforts.MethodsThis paper describes an individual-level simulation model that uses evidence synthesis from multiple data streams—national statistics, national health surveys, and four cohort studies, and known risk factors—aging, obesity, ethnicity, and genetics—to forecast the prevalence of type 2 diabetes in Singapore. This comprises submodels for mortality, fertility, migration, body mass index trajectories, genetics, and workforce participation, parameterized using Markov chain Monte Carlo methods, and permits forecasts by ethnicity and employment status.ResultsWe forecast that the obesity prevalence will quadruple from 4.3% in 1990 to 15.9% in 2050, while the prevalence of type 2 diabetes (diagnosed and undiagnosed) among Singapore adults aged 18–69 will double from 7.3% in 1990 to 15% in 2050, that ethnic Indians and Malays will bear a disproportionate burden compared with the Chinese majority, and that the number of patients with diabetes in the workforce will grow markedly.ConclusionsIf the recent rise in obesity prevalence continues, the lifetime risk of type 2 diabetes in Singapore will be one in two by 2050 with concomitant implications for greater healthcare expenditure, productivity losses, and the targeting of health promotion programmes.
In utero exposure to alcohol and puberty in boys: a pregnancy cohort study
Authors: Håkonsen Linn Berger , Brath-Lund Mette Louise , Hounsgaard Marie Louise , Olsen Jørn , Ernst Andreas , Thulstrup Ane Marie , Bech Bodil Hammer , Ramlau-Hansen Cecilia Høst 
Published: June 2014

ObjectivesEpidemiological studies have raised concerns about the reproductive consequences of in utero exposure to alcohol. Maternal lifestyle factors have been associated with altered pubertal development, but the impact of prenatal alcohol exposure on male puberty is unknown. Thus, the objective was to explore whether prenatal alcohol exposure alters pubertal development in boys.SettingFollow-up of a Danish pregnancy cohort.ParticipantsSons (N=2522) of women who were enrolled in a Danish pregnancy cohort between 1984 and 1987.Primary and secondary outcome measuresIndicators of pubertal development, assessed by age at first nocturnal emission, voice break, acne and regular shaving.ResultsWe found a tendency towards a later age at first nocturnal emission and voice break following in utero exposure to binge drinking. Boys exposed to ≥5 binge drinking episodes during pregnancy experienced their first nocturnal emission 7.3 months (95% CI −2.8 to 17.4) later and voice break 4.9 months (95% CI −0.6 to 10.4) later than the unexposed boys. Results for average weekly alcohol consumption were in the same direction, but differences were smaller and not statistically significant.ConclusionsWe found no strong support for the hypothesis that in utero exposure to weekly alcohol consumption is a risk factor for altered pubertal development, but a tendency towards delayed pubertal development among boys exposed to binge drinking during fetal life was observed. Longitudinal studies, with data collected as children go through puberty, are needed to explore this further.
Treatment delay affects clinical severity of tuberculosis: a longitudinal cohort study
Authors: Virenfeldt J , Rudolf F , Camara C , Furtado A , Gomes V , Aaby P , Petersen E , Wejse C 
Published: June 2014

ObjectivesTo describe the risk factors for treatment delay and the effect of delay on the severity of tuberculosis (TB) in a prospectively followed TB cohort at the Bandim Health Project in Guinea-Bissau.BackgroundTreatment delay in patients with TB is associated with increased mortality and transmission of disease. However, it is not well described whether delay influences clinical severity at diagnosis. Previously reported risk factors for treatment delay vary in different geographical and cultural settings. Such information has never been investigated in our setting. Change in delay over time is rarely reported and our prospectively followed TB cohort gives an opportunity to present such data.ParticipantsPatients were included at the time of diagnosis at three local TB clinics and the national TB reference hospital. Inclusion criteria were age >15 years and diagnosis of TB by either sputum examination or by the WHO clinical criteria. Patients with extrapulmonary TB were excluded.Primary and secondary outcome measuresThe primary outcome was treatment delay. Delay was assessed by patient questionnaires. The secondary outcome was Bandim TBscore as a measure of TB morbidity and all-cause mortality.ResultsA total of 1424 persons were diagnosed with TB in the study area between 2003 and 2010. We included 973 patients with TB in the study. The median treatment delay was 12.1 weeks. Risk factors for delay were low educational level, HIV-1+HIV-2 dual infection and negative sputum smear. TB treatment delay decreased by 10.3% (7.9–12.6%) per year during the study period. Delay was significantly associated with clinical severity at presentation with 20.8% severe TB cases in the low delay quartile compared with 33.9% if delay was over the median of 12.1 weeks.ConclusionsLong treatment delay was associated with more severe clinical presentation. Treatment delay in TB cases is decreasing in Guinea-Bissau.
What is the risk of death or severe harm due to bone cement implantation syndrome among patients undergoing hip hemiarthroplasty for fractured neck of femur? A patient safety surveillance study
Authors: Rutter Paul D , Panesar Sukhmeet S , Darzi Ara , Donaldson Liam J 
Published: June 2014

ObjectiveTo estimate the risk of death or severe harm due to bone cement implantation syndrome (BCIS) among patients undergoing hip hemiarthroplasty for fractured neck of femur.SettingHospitals providing secondary and tertiary care throughout the National Health Service (NHS) in England and Wales.ParticipantsCases reported to the National Reporting and Learning System (NRLS) in which the reporter clearly describes severe acute patient deterioration associated with cement use in hip hemiarthroplasty for fractured neck of femur (assessed independently by two reviewers).Outcome measuresPrimary—number of reported deaths, cardiac arrests and periarrests per year. Secondary—timing of deterioration and outcome in relation to cement insertion.ResultsBetween 2005 and 2012, the NRLS received 62 reports that clearly describe death or severe harm associated with the use of cement in hip hemiarthroplasty for fractured neck of femur. There was one such incident for every 2900 hemiarthroplasties for fractured neck of femur during the period. Of the 62 reports, 41 patients died, 14 were resuscitated from cardiac arrest and 7 from periarrest. Most reports (55/62, 89%) describe acute deterioration occurring during or within a few minutes of cement insertion. The vast majority of deaths (33/41, 80%) occurred on the operating table.ConclusionsThese reports provide narrative evidence from England and Wales that cement use in hip hemiarthroplasty for fractured neck of femur is associated with instances of perioperative death or severe harm consistent with BCIS. In 2009, the National Patient Safety Agency publicised this issue and encouraged the use of mitigation measures. Three-quarters of the deaths in this study have occurred since that alert, suggesting incomplete implementation or effectiveness of those mitigation measures. There is a need for stronger evidence that weighs the risks and benefits of cement in hip hemiarthroplasty for fractured neck of femur.
Knowledge of and attitudes towards palliative care and hospice services among patients with advanced chronic kidney disease
Authors: Davison Sara N , Jhangri Gian S , Koffman Jonathan 
Published: June 2014

ObjectivesPalliative care is greatly underutilised for patients dying from advanced chronic kidney disease (CKD). This study explored CKD patients’ knowledge of, and attitudes to, palliative and hospice care.Design and interventionThis was a cross-sectional interview-based survey of stage 5 CKD patients.SettingBoth dialysis patients and those managed without dialysis were assessed in a university-based renal programme in Alberta, Canada.Outcome measuresThe primary outcome was validated patient knowledge of, and attitudes, towards palliative and hospice care. Secondary analyses of associations between knowledge and potential explanatory variables such as patient demographics, living circumstances, self-assigned ethnicity, socioeconomic position and sources of knowledge were explored.ResultsOnly 22.2% and 17.9% of 436 patients surveyed possessed a correct understanding of palliative and hospice care, respectively, and perceptions were mostly negative. Sources of knowledge of these services rarely involved healthcare professionals (3.1%–7.7%). Multivariable analysis identified that white participants were more than 12 times more likely to have accurate knowledge than non-Caucasian patients, not accounted for by socioeconomic position. Accurate knowledge was also more likely among patients who had personal experience with palliative care, or obtained their knowledge firsthand from family and friends. After palliative and hospice care were described, the vast majority of patients felt these services were valuable and should be offered to patients with advanced CKD (87.8% and 89.7%, respectively).ConclusionsBased on study findings, CKD patient and family education about the benefits of palliative and hospice services is likely important in optimal use of these services.
Sexually transmitted infection incidence among adolescents in Ireland
Authors: Davoren Martin P , Hayes Kevin , Horgan Mary , Shiely Frances 
Published: June 2014

ObjectiveThe burden of sexually transmitted infections (STIs) rests with young people, yet in Ireland there has been very little research into this population. The purpose of this study was to determine the incidence rate and establish risk factors that predict STI occurrence among adolescents in Ireland.DesignRoutine diagnostic, demographic and behavioural data from first-time visits to three screening centres in the southwest of Ireland were obtained. Univariate and multivariable logistic regression models were used to assess risk factors that predict STI occurrence among adolescents.ResultsA total of 2784 first-time patients, aged 13–19 years, received 3475 diagnoses between January 1999 and September 2009; 1168 (42%) of adolescents had notifiable STIs. The incidence rate of STIs is 225/100 000 person-years. Univariate analysis identified eligible risk factors (p<0.2) for inclusion in the multivariable model. Multivariable logistic regression showed the dominant risk factors for STI diagnosis to be: males who sometimes [odds ratio (OR) 2.02] or never (OR 1.83) use condoms; and females 18–19 years (OR 2.26) and 16–18 years (OR 1.8), with 2 (OR 1.33) or 3+ (OR 1.56) partners in the last 12 months, who are non-intravenous drug users (OR 0.72), are most likely to receive a positive STI diagnosis.ConclusionsSTI diagnosis has become increasingly common in Ireland. The proportion of notifications among those aged under 20 years is increasing. These data illustrate the significance of age, condom use and number of sexual partners as risk factors for STI diagnosis. Furthermore, providing data for the first time, we report on the high incidence rate of STIs among adolescents in Ireland. The high levels of risk-taking behaviour and STI acquisition are highlighted and suggest that there is a need for an integrated public health approach to combat this phenomenon in the adolescent population.
Impact of the ASPECT scores and distribution on outcome among patients undergoing thrombectomy for acute ischemic stroke
Authors: Spiotta Alejandro M , Vargas Jan , Hawk Harris , Turner Raymond , Chaudry M Imran , Battenhouse Holly , Turk Aquilla S 
Published: June 2014

IntroductionThis study investigates whether the Alberta Stroke Program Early CT Score (ASPECTS) quantification is associated with outcome following mechanical thrombectomy.ObjectiveTo determine whether preintervention non-perfect ASPECT scores involving cortical or subcortical regions and the side of the non-perfect ASPECT score affects outcomes.MethodsA retrospective review of a prospectively maintained database of patients with acute ischemic stroke involving the anterior circulation who underwent thrombectomy between May 2008 and August 2012 at a single tertiary care center. The device for mechanical thrombectomy used was the penumbra aspiration system (Penumbra Inc, Alameda, California, USA) and the Solitaire stent retriever (ev3, Irvine, California, USA). A ‘blinded’ neuroradiologist obtained ASPECTS quantification and noted each region demonstrating early changes.Results149 patients (51.7% female, mean age 66.1±15.1 years) were included with an average National Institutes of Health Stroke Scale of 16.2±6.7. Patients with non-perfect ASPECT scores on pretreatment imaging were more likely to have a hemorrhagic conversion (p=0.04) evident on post-procedure CT. However, functional outcomes were the same. Patients with both cortical and basal ganglia non-perfect ASPECT scores were more likely to be in a persistent vegetative state or expire. No differences were identified in outcome among patients with left- versus right-sided infarcts affecting the basal ganglia or cortical regions.ConclusionsThese findings support a strategy of selecting candidacy for thrombectomy that does not exclude patients with non-perfect ASPECT scores involving either the basal ganglia or cortical regions. Outcomes were identical among patients with no non-perfect ASPECT scores and those with cortical or subcortical infarcts, despite a higher incidence of hemorrhagic conversion found among those with non-perfect ASPECT scores.
Fatally bitten ammonites from the Lower Calcareous Grit Formation (Upper Jurassic) of NE Yorkshire, UK
Authors: Wright John K. , Bassett-Butt Lewis , Collinson Margaret 
Published: June 2014

Summary
Two hundred and sixty-six specimens of cardioceratid ammonites found in concretions from the Tenants’ Cliff Member of the Lower Calcareous Grit Formation (Upper Oxfordian, Upper Jurassic) at Tenants’ Cliff, near Scarborough, England, were analysed to determine the type of damage within the assemblage. Forty-five specimens were severely damaged. They consist largely of just a body chamber fragment, with small pieces of fractured shell scattered through the matrix. This type of damage is characteristic of predation by sharks or marine reptiles. Fourteen, almost complete but damaged specimens showed an indent that is either subcrescentic or V-shaped. Measurements of the position of this damage showed that the V-shaped indent was present on the body chamber of these specimens anterior to the final suture. Comparisons with other specimens from different localities and time periods, as well as sedimentological evidence and modern behavioural records, suggests that such damage was caused by squids.
Procedures and criteria for the definition of Global Heritage Stone Resources
Authors: Marker Brian R. 
Published: June 2014

Abstract
The Global Heritage Stone Resource (GHSR) and Global Heritage Stone Province (GHSP) designations provide a means by which geoscientists, planners and industry can explain the importance of some types of stone in the repair and maintenance of historic structures, new building and objects such as sculptures. Defining criteria are envisaged as including: wide ranging geographical use for a significant period; utilization in significant industrial projects; recognition as a cultural icon; continuing availability; and potential benefits of designation. Consideration is needed of the future composition and administration of the overseeing Board, refinement of the mechanism for making and approving nominations and how to consult the cultural heritage sector on nominations. It is likely that a larger panel of reviewers will be needed to support the work. It is important that criteria are clear and widely known and that discussions and decisions are well documented and publicly available. A mechanism for appeals against decisions is also needed. It is considered that the cultural heritage qualification should be the primary criterion supported by timescale and scale of use, both geographically and quantitatively.
Favorable Prognostic Impact in Loss of TP53 and PIK3CA Mutations after Neoadjuvant Chemotherapy in Breast Cancer
Authors: Jiang Yi-Zhou , Yu Ke-Da , Bao Jing , Peng Wen-Ting , Shao Zhi-Ming 
Published: June 2014

Abstract
We investigated the loss of somatic mutations in TP53 and PIK3CA in breast cancer tissue after neoadjuvant chemotherapy (NCT) and the clinical relevance of the observed mutation profiles. Samples were derived from three cohorts: Cohort 1 consisting of 206 patients undergoing NCT with matched pre- and postchemotherapy tumor tissues; Cohort 2 consisting of 158 additional patients undergoing NCT; and Cohort 3, consisting of 81 patients undergoing chemotherapy with prechemotherapy tumor tissues. In the first cohort, somatic mutations in TP53 or PIK3CA were identified in 24.8% of the pre-NCT tumor samples but in only 12.1% of the post-NCT tumor samples (P &lt; 0.001). Patients with initial TP53 and PIK3CA mutations who became negative for the mutations after NCT had a higher Miller–Payne score (P = 0.008), improved disease-free survival, and improved overall survival than those with no change or the opposite change. The association of loss of mutations in TP53 and PIK3CA and improved survival was successfully validated in the second cohort. In addition, 28.4% of the tumors showed intratumoral heterogeneity of somatic mutations in TP53 or PIK3CA, whereas 71.6% were homogeneous, either with or without the mutations. Our data reveal the novel concept that chemotherapy may reduce mutation frequency in patients with breast cancer. Furthermore, the loss of somatic mutations in TP53 and PIK3CA may be translated to biomarkers for prognosis via further verification, which may optimize the choice of sequential therapy and improve patient survival. Cancer Res; 74(13); 3399–407. ©2014 AACR.