bluuebunny/crossref_metadata_2025_split huggingface dataset:
Survival Studies of Thalassemic Erythrocytes Transfused into Donors, into Subjects with Thalassemia Minor and into Normal and Splenectomized Subjects
Authors: VULLO C. , TUNIOLI A. M. 
Published: October 2019

Abstract
The analysis of the curves of thalassemic red cell survival studied in children suffering from thalassemia major, in subjects with thalassemia minor, in normal splenectomized subjects and in healthy persons shows:
(a) thalassemic erythrocytes show a marked shortening of life span, with a wide range of half life from case to case;
(b) thalassemic erythrocytes survive longer in patients with thalassemia major and minor than in normal subjects;
(c) the behavior of thalassemic erythrocyte survival curves in the anemic patients and in the normal splenectomized cases is almost similar. On the basis of these results, the authors emphasize that:
(1) valuable data on the seriousness of the hemolytic process in thalassemia major can be drawn only from autotransfusion studies;
(2) in both thalassemia major and minor the spleen has less hemolytic activity on thalassemic red cells than in normal subjects;
(3) since survival curves between anemic and normal subjects differ principally in the initial component where the most abnormal red cells are destroyed by the normal spleen, it is probable that the spleen of Patients with thalassemia major is not so greatly active against these cells.
Erythropoietin mRNA Expression in Human Fetal and Neonatal Tissue
Authors: Dame Christof , Fahnenstich Hubert , Freitag Patricia , Hofmann Dietmar , Abdul-Nour Thair , Bartmann Peter , Fandrey Joachim 
Published: October 2019

Based on animal experiments, a switch of the erythropoietin (EPO) production site from the liver in the fetus to the kidneys in the adult has been postulated. To study the switch in humans, we have quantitated EPO mRNA expression in liver, kidney, spleen, and bone marrow of human fetuses and neonates by means of a competitive polymerase chain reaction (PCR). Tissue samples from 66 routine postmortem examinations were obtained. EPO mRNA was expressed in 97% of the tissue specimen derived from the liver (n = 66) and in 93% of those from the kidneys (17 weeks of gestation until 18 months after birth; n = 59). For the first time the EPO gene was found expressed in vivo in human spleen (96% of 64 samples) and in fetal and neonatal bone marrow (81% of 21 samples). EPO mRNA expression in the kidneys increased significantly beyond 30 weeks of gestation (P < .05). Although there was a slight decrease in EPO mRNA content per g liver tissue towards birth, the liver accounted for about 80% of the total body EPO mRNA. The contribution of the spleen and bone marrow were minor compared with liver and kidneys. Our results indicate that in humans the liver is the primary site of EPO gene expression not only in fetal, but also in neonatal life. A significant increase of renal EPO mRNA expression after 30 weeks of gestation might indicate the beginning switch.
© 1998 by The American Society of Hematology.
Identification of Mutations and Polymorphisms in the Factor XI Genes of an African American Family by Dideoxyfingerprinting
Authors: Martincic Danko , Zimmerman Sherri A. , Ware Russell E. , Sun Mao-Fu , Whitlock James A. , Gailani David 
Published: October 2019

Congenital deficiency of factor XI is a rare condition associated with a mild to moderate bleeding diathesis that is most commonly found in persons of Jewish ancestry. The disorder has been reported sporadically in a number of other ethnic groups, but rarely in the black population. We report on the genetic analysis of the factor XI genes of two African American patients: a 9-year-old boy (the propositus) with mild factor XI deficiency and his mother. Both individuals have lifelong histories of excessive bleeding. Dideoxyfingerprinting, a technique combining components of single-strand conformational polymorphism analysis and dideoxy-chain termination sequencing, was used in the analysis. Both patients were found to be heterozygous for a mutation changing serine 248 to glutamine, whereas the propositus was heterozygous for an additional mutation on the paternal allele changing glutamine 226 to arginine. Both mutations reside in the third apple domain of the factor XI heavy chain, an area that has been shown to contain binding sites for factor IX, platelets, and glycosaminoglycans. Previously reported mutations in the factor XI gene seem to cause deficiency primarily by reducing protein expression. Because both alleles in the propositus contain amino acid substitutions, the significant amount of circulating factor XI in his plasma must be comprised entirely of abnormal molecules. Factor XI circulates as a homodimer, and the presence of mutations in both alleles of the factor XI gene suggests that his bleeding disorder is caused in part by the effect of the two abnormal gene products forming dimers in different combinations. Three neutral (not associated with amino acid changes) DNA polymorphisms were also identified in the two subjects: a C to T change at nucleotide 472 in exon 5, A to G at nucleotide 844 in exon 8, and T to C at nucleotide 1234 in exon 11. Analysis of a random sample of normal volunteers showed that these polymorphisms are relatively common, with allele frequencies of 7.4%, 19%, and 18%, respectively. This suggests that there is considerable genetic heterogeneity in the factor XI gene.© 1998 by The American Society of Hematology.
OX40 Costimulation Enhances Interleukin-4 (IL-4) Expression at Priming and Promotes the Differentiation of Naive Human CD4+ T Cells Into High IL-4–Producing Effectors
Authors: Ohshima Yusei , Yang Liang-Peng , Uchiyama Takashi , Tanaka Yuetsu , Baum Peter , Sergerie Martin , Hermann Patrice , Delespesse Guy 
Published: October 2019

Th2 cell development is critically dependent on the presence of interleukin-4 (IL-4) at priming. The cellular origin and the mechanisms regulating this early production of IL-4 at the site of naive T-cell priming are extensively investigated. We previously reported that anti-CD3–activated and CD28-costimulated naive human CD4+ T cells themselves release very low but sufficient levels of IL-4 to support their development into high IL-4–producing cells. We show here that ligation of OX40 Ag, a member of the tumor necrosis factor receptor (TNF-R) family, on activated umbilical cord blood CD4+ T cells upregulates IL-4 production at priming and thereby promotes their development into effector cells producing high levels of the type 2 cytokines IL-4, IL-5, and IL-13. OX40 ligation increases four times the expression of IL-4 mRNA after 48 hours of anti-CD3/B7.1 activation and significantly augments the release of IL-4 and IL-13 in primary cultures. The effects of OX40 costimulation on Th cell differentiation are observed in the presence of optimal and suboptimal CD28 stimulation. Because OX40 ligand is expressed on dendritic cells, the OX40 costimulation pathway may be involved in the physiological regulation of Th cell development by augmenting the differentiation of IL-4–producing cells.© 1998 by The American Society of Hematology.
Chromosome Band 1p36 Contains a Putative Tumor Suppressor Gene Important in the Evolution of Chronic Myelocytic Leukemia
Authors: Mori Naoki , Morosetti Roberta , Spira Susanne , Lee Stephen , Ben-Yehuda Dina , Schiller Gary , Landolfi Raffaele , Mizoguchi Hideaki , Koeffler H. Phillip 
Published: October 2019

Chronic myelocytic leukemia (CML) is a common neoplasm of hematopoietic pluripotent stem cells. Although the evolution from chronic phase to blast crisis (BC) in CML patients is an inevitable clinical feature, little is understood about the mechanisms responsible for the transformation. We have previously performed allelotype analysis in CML BC and have detected frequent loss of heterozygosity (LOH) on the short arm of chromosome 1. To know the common region of LOH where a putative tumor suppressor gene may reside, deletional mapping was performed using 33 microsatellite markers spanning chromosome 1 in 30 patients with CML BC (21 myeloid and 9 lymphoid). DNA was extracted from slides of bone marrow smears or from bone marrow mononuclear cells. In each patient, DNA from chronic phase was analyzed alongside DNA from either their BC or accelerated phase. Allelic loss on 1p was observed in 14 of the 30 individuals (47%): 10 of the 21 myeloid and 4 of the 9 lymphoid BC cases. Serial cytogenetic information was available in 10 cases with LOH on 1p; interestingly, deletions in this region were not detected. Two samples showed LOH at all informative loci on 1p, whereas the other 12 samples showed LOH on at least one but not all loci on 1p. The common region of LOH resided proximal to D1S508 and distal to D1S507 (1p36). Our results suggest that a tumor suppressor gene that frequently plays an important role in the evolution to BC resides on 1p36 in CML.
© 1998 by The American Society of Hematology.
An application of machine learning with feature selection to improve diagnosis and classification of neurodegenerative disorders
Authors: Álvarez Josefa Díaz , Matias-Guiu Jordi A. , Cabrera-Martín María Nieves , Risco-Martín José L. , Ayala José L. 
Published: October 2019

Abstract

Background
The analysis of health and medical data is crucial for improving the diagnosis precision, treatments and prevention. In this field, machine learning techniques play a key role. However, the amount of health data acquired from digital machines has high dimensionality and not all data acquired from digital machines are relevant for a particular disease. Primary Progressive Aphasia (PPA) is a neurodegenerative syndrome including several specific diseases, and it is a good model to implement machine learning analyses. In this work, we applied five feature selection algorithms to identify the set of relevant features from 18F-fluorodeoxyglucose positron emission tomography images of the main areas affected by PPA from patient records. On the other hand, we carried out classification and clustering algorithms before and after the feature selection process to contrast both results with those obtained in a previous work. We aimed to find the best classifier and the more relevant features from the WEKA tool to propose further a framework for automatic help on diagnosis. Dataset contains data from 150 FDG-PET imaging studies of 91 patients with a clinic prognosis of PPA, which were examined twice, and 28 controls. Our method comprises six different stages: (i) feature extraction, (ii) expertise knowledge supervision (iii) classification process, (iv) comparing classification results for feature selection, (v) clustering process after feature selection, and (vi) comparing clustering results with those obtained in a previous work.

Results
Experimental tests confirmed clustering results from a previous work. Although classification results for some algorithms are not decisive for reducing features precisely, Principal Components Analisys (PCA) results exhibited similar or even better performances when compared to those obtained with all features.

Conclusions
Although reducing the dimensionality does not means a general improvement, the set of features is almost halved and results are better or quite similar. Finally, it is interesting how these results expose a finer grain classification of patients according to the neuroanatomy of their disease.
DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
Authors: Linderman Michael D. , Chia Davin , Wallace Forrest , Nothaft Frank A. 
Published: October 2019

Abstract

Background
XHMM is a widely used tool for copy-number variant (CNV) discovery from whole exome sequencing data but can require hours to days to run for large cohorts. A more scalable implementation would reduce the need for specialized computational resources and enable increased exploration of the configuration parameter space to obtain the best possible results.

Results
DECA is a horizontally scalable implementation of the XHMM algorithm using the ADAM framework and Apache Spark that incorporates novel algorithmic optimizations to eliminate unneeded computation. DECA parallelizes XHMM on both multi-core shared memory computers and large shared-nothing Spark clusters. We performed CNV discovery from the read-depth matrix in 2535 exomes in 9.3 min on a 16-core workstation (35.3× speedup vs. XHMM), 12.7 min using 10 executor cores on a Spark cluster (18.8× speedup vs. XHMM), and 9.8 min using 32 executor cores on Amazon AWS’ Elastic MapReduce. We performed CNV discovery from the original BAM files in 292 min using 640 executor cores on a Spark cluster.

Conclusions
We describe DECA’s performance, our algorithmic and implementation enhancements to XHMM to obtain that performance, and our lessons learned porting a complex genome analysis application to ADAM and Spark. ADAM and Apache Spark are a performant and productive platform for implementing large-scale genome analyses, but efficiently utilizing large clusters can require algorithmic optimizations and careful attention to Spark’s configuration parameters.
The impact of dexmedetomidine added to ropivicaine for transversus abdominis plane block on stress response in laparoscopic surgery: a randomized controlled trial
Authors: Qin Zhaojun , Xiang Chunyan , Li Hongbo , Liu Tingting , Zhan Leyun , Xia Zhengyuan , Zhang Min , Lai Jianping 
Published: October 2019

AbstractBackgroundIntravenous dexmedetomidine is known to attenuate stress response in patients undergoing laparoscopic surgery. We investigated whether the addition of the highly selective alpha-2 adrenergic agonist dexmedetomidine into ropivacaine for ultrasound-guided transversus abdominis plane block could inhibit stress response during laparoscopic surgery, and determined the optimal dose of dexmedetomidine in it.MethodsOne hundred and twenty-five patients undergoing laparoscopic gynecological surgery were included in this prospective and randomized double-blind study. Patients received general anesthesia with or without a total of 60 ml of 0.2% ropivacaine in combination with low (0.25 μg/kg), medium (0.50 μg/kg) or high dose (1.0 μg/kg) of dexmedetomidine for the four-quadrant transversus abdominis plane block (n = 25). The primary outcomes were stress marker levels during the operation.ResultsOne hundred and twenty patients completed the study protocol. Dexmedetomidine added to ropivacaine for transversus abdominis plane block significantly reduced serum levels of cortisol, norepinephrine, epinephrine, interleukin-6, blood glucose, mean arterial pressure and heart rate in a dose-dependent manner (P < 0.05), accompanied with decreased anesthetic and opioid consumption during the operation (P < 0.05), but the high dose of dexmedetomidine induced higher incidences of bradycardia than low or medium dose of dexmedetomidine (P < 0.05).ConclusionThe addition of dexmedetomidine at the dose of 0.5 μg/kg into ropivacaine for ultrasound-guided transversus abdominis plane block is the optimal dose to inhibit stress response with limited impact on blood pressure and heart rate in patients undergoing laparoscopy gynecological surgery.Trial registrationThis study was registered atwww.chictr.org.cnon November 6th, 2016 (ChiCTR-IOR-16009753).
Infantile hepatic hemangiomas associated with high-output cardiac failure and pulmonary hypertension
Authors: Zhang Xin-tong , Ren Wei-dong , Song Guang , Xiao Yang-jie , Sun Fei-fei , Wang Nan 
Published: October 2019

Abstract

Background
Infantile hepatic hemangioma (IHH) is a rare endothelial cell neoplasm, which may be concurrent with severe complications and result in poor outcomes. Moreover, the coexistence of IHH and congenial heart disease is even rarer.

Case presentation
We present a 10-day-old male born with IHH associated with patent ductus arteriosus (PDA), atrial septal defect (ASD) and pulmonary hypertension. Moreover, we reviewed a series of studies of IHH-associated high-output cardiac failure between 1974 and 2018, and summarized the treatment outcomes.

Conclusions
Infantile hepatic hemangioma (IHH) has been known to induce high-output heart failure. There is no literature to summarize the severity of its impact on heart, which can lead to a high mortality rate. When IHH is detected by ultrasound, the heart should be evaluated to facilitate treatment. The outcomes of IHH associated with heart failure are good.
Knowledge of tuberculosis among female sex workers in Rajshahi city, Bangladesh: a cross sectional study
Authors: Rana Md. Masud , Islam Md. Rafiqul , MoinUddin Sheikh , Wadood Md. Abdul , Hossain Md. Golam 
Published: October 2019

Abstract

Background
Tuberculosis (TB) is a major public health problem in developing countries like Bangladesh. Female sex workers (FSWs) and their clients are active sources for spreading TB. The purpose of this study was to assess the knowledge of TB among FSWs in Rajshahi city, Bangladesh.

Methods
It was a cross-sectional study with a sample size of 225 FSWs. The knowledge on TB was measured by six different questions. Chi-square test and multinomial logistic regression model were used in this study to find the associated factors of lack of general knowledge on TB among FSWs.

Results
Out of 225 FSWs, 43.1, 34.7 and 22.2% came from urban, rural and slum areas respectively. More than 41% FSWs perceived that TB is a non-communicable disease. A large number of FSWs (76.4%) did not know the spread of TB. It was found that more than 90% FSWs did not have knowledge on latent TB. The χ2-test demonstrated that FSWs’ education, monthly family income, age, currently marital status and sex trading place were significantly associated with their knowledge on TB. A remarkable number of FWSs (42.2%) had poor knowledge on TB. It was found that comparatively higher educated FWSs were more likely to have good or fair knowledge on TB than lower educated ones (p < 0.01).

Conclusions
This study revealed that near to half of FSWs in Rajshahi city, Bangladesh had poor knowledge on TB. Public health authorities should pay due attention and adopt policy for increasing the knowledge on TB among FSWs to reduce the incidence of TB in Bangladesh. Subsequently, advocacy, communication for social mobilization program is very urgent.
Depression and anxiety among people living with and beyond cancer: a growing clinical and research priority
Authors: Niedzwiedz Claire L. , Knifton Lee , Robb Kathryn A. , Katikireddi Srinivasa Vittal , Smith Daniel J. 
Published: October 2019

Abstract

Background
A cancer diagnosis can have a substantial impact on mental health and wellbeing. Depression and anxiety may hinder cancer treatment and recovery, as well as quality of life and survival. We argue that more research is needed to prevent and treat co-morbid depression and anxiety among people with cancer and that it requires greater clinical priority. For background and to support our argument, we synthesise existing systematic reviews relating to cancer and common mental disorders, focusing on depression and anxiety.
We searched several electronic databases for relevant reviews on cancer, depression and anxiety from 2012 to 2019. Several areas are covered: factors that may contribute to the development of common mental disorders among people with cancer; the prevalence of depression and anxiety; and potential care and treatment options. We also make several recommendations for future research. Numerous individual, psychological, social and contextual factors potentially contribute to the development of depression and anxiety among people with cancer, as well as characteristics related to the cancer and treatment received. Compared to the general population, the prevalence of depression and anxiety is often found to be higher among people with cancer, but estimates vary due to several factors, such as the treatment setting, type of cancer and time since diagnosis. Overall, there are a lack of high-quality studies into the mental health of people with cancer following treatment and among long-term survivors, particularly for the less prevalent cancer types and younger people. Studies that focus on prevention are minimal and research covering low- and middle-income populations is limited.

Conclusion
Research is urgently needed into the possible impacts of long-term and late effects of cancer treatment on mental health and how these may be prevented, as increasing numbers of people live with and beyond cancer.
A theory of public wellbeing
Authors: Fisher Matthew 
Published: October 2019

AbstractBackgroundWellbeing is seen as a matter of concern for governments and public policy. However, current theories on wellbeing are not well placed to inform this concern, because they fail to take account of and explain evidence on social determinants of mental health.DiscussionThis article proposes a new theory of public wellbeing which does takes account of such evidence, by explaining the role of stress within three basic functions of social cognition. Building on this description, the article then proposes that wellbeing consists in seven basic abilities, which are always developed and exercised (or not) through constant processes of interaction between individual and environment. The article explains why contemporary theories on wellbeing are poorly placed to inform public policy for wellbeing. It also positions the proposed theory in relation to evidence on social determinants of health (SDH) and the associated public policy agenda. It is argued the proposed theory of wellbeing extends on and challenges the SDH policy agenda in relation to the normative target of policy proposals, factors identified as determinants, impacts of determinants on populations, and proposals for political and social change.ConclusionImproved theory on public wellbeing can inform policy for wellbeing because it explains the contingent nature of wellbeing within contemporary social environments, and extends understanding of social determinants of wellbeing.