bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inherited skin disease
Authors: Maruthappu Thiviyani , Kelsell David P. 
Published: February 2020

Abstract
Considerable advances in our understanding of inherited skin diseases have been made over the last decade as a result of high throughput sequencing technologies, including next generation sequencing and whole exome sequencing. The genetic basis of a myriad of monogenic epidermal disorders and syndromes including blistering diseases, ichthyoses, palmoplantar keratodermas, and the ectodermal dysplasias have now been elucidated. However, most patients referred from primary care to the dermatology clinic will be seeking treatment for a few common skin disorders such as psoriasis, eczema, and acne. The genetic basis of these disorders is rather more complex, but progress has been made through genome-wide association studies, which, for example, have linked susceptibility variants in the gene for filaggrin (FLG) and SPINK5 to atopic eczema, and IL23R and many other immune-related genes to psoriasis.
Tumours of the skin
Authors: O’Toole Edel 
Published: February 2020

Abstract
A variety of tumours, both benign and malignant, are found in skin. Benign skin lesions, such as seborrhoeic keratoses and skin tags, are often just a cosmetic nuisance, but some benign skin lesions can be a component of diseases with serious medical consequences (e.g. neurofibromatosis or LEOPARD syndrome). Skin cancer is the most common human cancer and its incidence continues to increase. It most commonly affects older, fair-skinned individuals who have had either acute intermittent exposure to ultraviolet light or chronic ultraviolet light exposure. Organ transplant recipients have a 200-fold increased risk of squamous cell carcinoma. About 2% of patients who develop skin cancer have a genetic predisposition, for example, Gorlin’s syndrome in basal cell carcinoma and familial melanoma syndromes in malignant melanoma. Mutations in the PTCH gene cause Gorlin’s syndrome, and loss of heterozygosity at that locus is also present in most sporadic basal cell carcinoma.
Introduction and approach to the patient with neurological disease
Authors: Compston Alastair , Kennard Christopher 
Published: February 2020

Abstract
Clinical neurology uses conversation, detailed questioning, and discussion, observation, structured examination, and selective investigation to formulate the patients’ problems into an anatomical and pathological framework. The competent neurologist identifies and probes relevant components of the history, reliably elicits the physical signs, knows which investigations are necessary and relevant, appreciates the most likely underlying diagnosis and mechanism of disease, and communicates relevant information to the patient accurately, intelligibly, and sensitively. This system has evolved over several centuries, during which much knowledge has accumulated on structure and function in health and disease, the reliability of physical signs and laboratory investigations, and the nosology of disease.
Disturbances of higher cerebral function
Authors: Nestor Peter J. 
Published: February 2020

Abstract
Clinicopathological and imaging studies indicate strong associations between particular disorders of cognition and focal disease in the brain, but not all focal lesions induce specific loss of higher functions. Neuropsychological research has deepened our understanding by suggesting organizational frameworks for human cognitive faculties. Modern scientific study of higher cerebral function began in the late 19th century with the case studies of Broca and Wernicke. Their observations of language disorders associated with damage to the left hemisphere gave rise to the notion that specific mental faculties could be dissociated from each other and localized to specific regions within the cerebral hemisphere. Since that time clinicopathological and, more recently, imaging studies have established associations between specific cognitive disorders and focal brain lesions; these studies also show that some lesions do not give rise to highly specific deficits.
The unconscious patient
Authors: Bates David 
Published: February 2020

Abstract
Prolonged loss of consciousness (coma, defined as a Glasgow Coma Score of 8 or less) is seen commonly: (1) following head injury, (2) after an overdose of sedating drugs, and (3) in the situation of ‘non-traumatic coma’, where there are many possible diagnoses, but the most common are postanoxic, postischaemic, systemic infection, and metabolic derangement (e.g. hypoglycaemia). Urgent assessment is required to identify and, where possible, correct the pathological cause, and protect the brain from the development of irreversible damage. Specific treatment (if any) will depend upon the particular cause of coma, but—whatever the cause—long-term attention is required to the patient’s respiration, skin, circulation, and bladder and bowel function, seizures must be controlled, and the level of consciousness should be regularly assessed and monitored.
Brainstem syndromes
Authors: Bates David 
Published: February 2020

Abstract
The classic presentation of brainstem syndromes, including the long tracts and deficits of cranial nerve nuclei, commonly causes crossed cranial nerve and motor or sensory long tract deficits; the cranial nerve lesions are ipsilateral to the lesion and the long tract signs are contralateral. It is important to assess the extracranial vascular supply to the posterior circulation, especially to listen for bruits over the subclavian vessels and to record the pulse and blood pressure in both upper limbs, remembering that the vertebral arteries arise from the subclavian vessels. Apart from the cranial nerve and long tract deficits, there may be ataxia, vertigo, the presence of an internuclear ophthalmoplegia and unreactive pupils, the symptoms of diplopia and oscillopsia, and the finding of nystagmus or ocular paresis.
Diseases of the spinal cord
Authors: Jacob Anu , Larner Andrew J. 
Published: February 2020

Abstract
The spinal cord is subject to numerous pathological processes which may be intrinsic (intramedullary) and/or extrinsic (extramedullary) to the cord. Many diseases can affect the spinal cord. Those of particular note include spondylotic myelopathy, multiple sclerosis, transverse myelitis, subacute combined degeneration of the cord, genetic and vascular disorders, syringomyelia, injury/trauma, motor neuron disease, and cancer—the most common spinal cord tumours are metastasis, astrocytoma, ependymoma, lymphoma. Specific medical and surgical treatments are determined by the particular cause of myelopathy. These may arrest progression, but function that has been lost may not recover fully. Prognosis of acute cord compression is directly related to the time delay between symptom onset and relief of compression. Chronic disability as a consequence of spinal cord disease requires intensive neurorehabilitation.
Spinal cord injury and its management
Authors: Masri(y) Wagih El , Barnes Michael 
Published: February 2020

Abstract
Spinal cord injury most commonly affects young men as a consequence of road traffic accidents, violence, and sports injuries. The incidence is increasing in older people, mainly due to falls. Appropriate management of the individual at the scene of an accident is vital to avoid unnecessary worsening of a spinal cord injury. Those who are unconscious should be assumed to have a cervical spine injury, with the head and neck held firmly in a neutral position using a semi-rigid collar, and transportation on a spinal board with a head immobilizer. With appropriate management, initial mortality from spinal cord injury is less than 5%. Most of those with complete somatosensory loss will recover up to three myotomes below the level of the injury, and with ongoing support are able to lead dignified, healthy, fulfilling, enjoyable, productive, and often competitive lives.
Structure and function of muscle
Authors: Hanna Michael G. , Bugiardini Enrico 
Published: February 2020

Abstract
The motor unit—the final common pathway for all voluntary muscle activity—is composed of an anterior horn cell, its peripheral axon, the axon terminal branches, the associated neuromuscular junctions, and the muscle fibres innervated. The muscle cells are multinucleate units with unique structures adapted for response to metabolic, nervous, and autocrine signals. Meanwhile, there are also different types of motor units: type 1—rich in mitochondria and specialized for oxidative metabolism of fat; type 2—larger fibres with abundant glycogen that generate energy by glycosis and are critical for short-lived muscle contraction. Knowledge of the underlying molecular cell biology, neurophysiology, and biochemical energetics of muscle provides a useful basis for understanding the symptoms, signs, and pathogenesis of clinical disorders affecting the muscles. Mutations in sarcolemmal proteins, such as dystrophin, cause diseases with widespread effects on skeletal muscle function, the heart, and survival.
Delirium
Authors: Sheehan Bart 
Published: February 2020

Abstract
Delirium is one of the most common psychiatric problems encountered in elderly medical inpatients. It involves a fluctuating cognitive impairment with reduced alertness and often with poorly formed delusions and/or visual hallucinations. The main differential diagnosis is from dementia, although delirium is more likely to develop in patients with existing dementia. Almost any medical condition that affects brain function may cause delirium. Infection is the most common cause, and it is important to consider prescribed drugs as a cause and to remember drug and alcohol withdrawal. Imperatives in management are first to keep the patient safe from harm (they may wander or put themselves in danger), and second to find and correct the cause. Urgent medical investigation and treatment is required as long periods of delirium put the patient at risk of harm, including permanent cognitive impairment.
Histoplasma capsulatum chemotypes I and II induce IL-8 secretion in lung epithelial cells in distinct manners
Authors: Alcantara Cristiane , Almeida Bruna Rocha , Barros Bianca Carla Silva Campitelli , Orikaza Cristina Mary , Toledo Marcos Sergio , Suzuki Erika 
Published: February 2020

Abstract
The cell wall is one of the most important structures of pathogenic fungi, enabling initial interaction with the host and consequent modulation of immunological responses. Over the years, some researchers have shown that cell wall components of Histoplasma capsulatum vary among fungal isolates, and one of the major differences is the presence or absence of α-(1,3)-glucan, classifying wild-type fungi as chemotypes II or I, respectively. The present work shows that an isolate of H. capsulatum chemotype I induced lower levels of interleukin (IL)-8 secretion by the lung epithelial cell line A549, when compared to chemotype II yeasts. Thus, we expected that the absence of α-glucan in spontaneous variant yeasts, which were isolated from chemotype II cultures, would modify IL-8 secretion by A549 cells, but surprisingly, these fungi promoted similar levels of IL-8 secretion as their wild-type counterpart. Furthermore, when using a specific inhibitor for Syk activation, we observed that this inhibitor reduced IL-8 levels in A549 cell cultures infected with wild type chemotype I fungi. This inhibitor failed to reduce this cytokine levels in A549 cell cultures infected with chemotype II and their spontaneous variant yeasts, which also do not present α-glucan on their surface. The importance of SFKs and PKC δ in this event was also analyzed. Our results show that different isolates of H. capsulatum modulate distinct cell signaling pathways to promote cytokine secretion in host epithelial cells, emphasizing the existence of various mechanisms for Histoplasma pathogenicity.
Scalable end-to-end recurrent neural network for variable star classification
Authors: Becker I , Pichara K , Catelan M , Protopapas P , Aguirre C , Nikzat F 
Published: February 2020

ABSTRACT
During the last decade, considerable effort has been made to perform automatic classification of variable stars using machine-learning techniques. Traditionally, light curves are represented as a vector of descriptors or features used as input for many algorithms. Some features are computationally expensive, cannot be updated quickly and hence for large data sets such as the LSST cannot be applied. Previous work has been done to develop alternative unsupervised feature extraction algorithms for light curves, but the cost of doing so still remains high. In this work, we propose an end-to-end algorithm that automatically learns the representation of light curves that allows an accurate automatic classification. We study a series of deep learning architectures based on recurrent neural networks and test them in automated classification scenarios. Our method uses minimal data pre-processing, can be updated with a low computational cost for new observations and light curves, and can scale up to massive data sets. We transform each light curve into an input matrix representation whose elements are the differences in time and magnitude, and the outputs are classification probabilities. We test our method in three surveys: OGLE-III, Gaia, and WISE. We obtain accuracies of about $95{{\ \rm per\ cent}}$ in the main classes and $75{{\ \rm per\ cent}}$ in the majority of subclasses. We compare our results with the Random Forest classifier and obtain competitive accuracies while being faster and scalable. The analysis shows that the computational complexity of our approach grows up linearly with the light-curve size, while the traditional approach cost grows as Nlog (N).
Considerations When Writing and Presenting Consent Forms for Clients
Authors: Behrens Gene Ann 
Published: February 2020

Abstract
While the writing and presentation of most general consent forms can be accomplished using a checklist of what to include and say, different nuances and considerations enter the process when the participants of a research study involve present or past clients who retain their legal rights. This process is even more challenging for student music therapists conducting research as part of a school-related project. While the Belmont Report1 and the American Music Therapy Association’s (AMTA) Code of Ethics (https://www.musictherapy.org/about/ethics/) provide some insights and direction for many ethical research decisions, music therapy researchers also must be aware of their values, morals, and integrity, as well as various ethical considerations. Based on an example scenario, six ethical questions related to writing and presenting a consent form for a past client are discussed along with references to the Belmont Report and AMTA’s Code of Ethics.
Multiplex accurate sensitive quantitation (MASQ) with application to minimal residual disease in acute myeloid leukemia
Authors: Moffitt Andrea B , Spector Mona S , Andrews Peter , Kendall Jude , Alexander Joan , Stepansky Asya , Ma BeiCong , Kolitz Jonathan , Chiorazzi Nicholas , Allen Steven L , Krasnitz Alex , Wigler Michael , Levy Dan , Wang Zihua 
Published: February 2020

AbstractMeasuring minimal residual disease in cancer has applications for prognosis, monitoring treatment and detection of recurrence. Simple sequence-based methods to detect nucleotide substitution variants have error rates (about 10−3) that limit sensitive detection. We developed and characterized the performance of MASQ (multiplex accurate sensitive quantitation), a method with an error rate below 10−6. MASQ counts variant templates accurately in the presence of millions of host genomes by using tags to identify each template and demanding consensus over multiple reads. Since the MASQ protocol multiplexes 50 target loci, we can both integrate signal from multiple variants and capture subclonal response to treatment. Compared to existing methods for variant detection, MASQ achieves an excellent combination of sensitivity, specificity and yield. We tested MASQ in a pilot study in acute myeloid leukemia (AML) patients who entered complete remission. We detect leukemic variants in the blood and bone marrow samples of all five patients, after induction therapy, at levels ranging from 10−2 to nearly 10−6. We observe evidence of sub-clonal structure and find higher target variant frequencies in patients who go on to relapse, demonstrating the potential for MASQ to quantify residual disease in AML.
Polymerase μ in non-homologous DNA end joining: importance of the order of arrival at a double-strand break in a purified system
Authors: Zhao Bailin , Watanabe Go , Lieber Michael R 
Published: February 2020

Abstract
During non-homologous DNA end joining (NHEJ), bringing two broken dsDNA ends into proximity is an essential prerequisite for ligation by XRCC4:Ligase IV (X4L4). This physical juxtaposition of DNA ends is called NHEJ synapsis. In addition to the key NHEJ synapsis proteins, Ku, X4L4, and XLF, it has been suggested that DNA polymerase mu (pol μ) may also align two dsDNA ends into close proximity for synthesis. Here, we directly observe the NHEJ synapsis by pol μ using a single molecule FRET (smFRET) assay where we can measure the duration of the synapsis. The results show that pol μ alone can mediate efficient NHEJ synapsis of 3′ overhangs that have at least 1 nt microhomology. The abundant Ku protein in cells limits the accessibility of pol μ to DNA ends with overhangs. But X4L4 can largely reverse the Ku inhibition, perhaps by pushing the Ku inward to expose the overhang for NHEJ synapsis. Based on these studies, the mechanistic flexibility known to exist at other steps of NHEJ is now also apparent for the NHEJ synapsis step.
Poly-Enrich: count-based methods for gene set enrichment testing with genomic regions
Authors: Lee Christopher T , Cavalcante Raymond G , Lee Chee , Qin Tingting , Patil Snehal , Wang Shuze , Tsai Zing T Y , Boyle Alan P , Sartor Maureen A 
Published: February 2020

Abstract
Gene set enrichment (GSE) testing enhances the biological interpretation of ChIP-seq data and other large sets of genomic regions. Our group has previously introduced two GSE methods for genomic regions: ChIP-Enrich for narrow regions and Broad-Enrich for broad regions. Here, we introduce Poly-Enrich, which has wider applicability, additional capabilities and models the number of peaks assigned to a gene using a generalized additive model with a negative binomial family to determine gene set enrichment, while adjusting for gene locus length. As opposed to ChIP-Enrich, Poly-Enrich works well even when nearly all genes have a peak, illustrated by using Poly-Enrich to characterize pathways and types of genic regions enriched with different families of repetitive elements. By comparing Poly-Enrich and ChIP-Enrich results with ENCODE ChIP-seq data, we found that the optimal test depends more on the pathway being regulated than on properties of the transcription factors. Using known transcription factor functions, we discovered clusters of related biological processes consistently better modeled with Poly-Enrich. This suggests that the regulation of certain processes may be modified by multiple binding events, better modeled by a count-based method. Our new hybrid method automatically uses the optimal method for each gene set, with correct FDR-adjustment.
John Hopcroft's views on China's education
Authors: Zhao Weijie , Hu Zhenjiang 
Published: February 2020

Abstract
Professor John Hopcroft at Cornell University is a Turing Prize winner (1986) and an educator with more than 55 years of teaching experience. For the past 10 years, Hopcroft has been coming to China to give courses to undergraduate students at Shanghai Jiaotong University (SJTU) and has helped SJTU to improve the quality of computer-science education. He also chairs the Center on Frontiers of Computing Studies at Peking University (PKU), the Turing Class at PKU and the Hopcroft Center at Huazhong University of Science and Technology (HUST) in Wuhan, and is engaged in many other projects aiming to upgrade China's computer-science undergraduate education. Recently, NSR talked with Professor Hopcroft to learn his views on education in China.
Independent Associations Between Different Measures of Socioeconomic Position and Smoking Status: A Cross-Sectional Study of Adults in England
Authors: Beard Emma , Brown Jamie , Jackson Sarah E , West Robert , Kock Loren , Boniface Sadie , Shahab Lion 
Published: February 2020

Abstract

Introduction
To gain a better understanding of the complex and independent associations between different measures of socioeconomic position (SEP) and smoking in England.

Aims and Methods
Between March 2013 and January 2019 data were collected from 120 496 adults aged 16+ in England taking part in the Smoking Toolkit Study. Of these, 18.04% (n = 21 720) were current smokers. Six indicators of SEP were measured: social grade, employment status, educational qualifications, home and car ownership and income. Models were constructed using ridge regression to assess the contribution of each measure of SEP, taking account of high collinearity.

Results
The strongest predictor of smoking status was housing tenure. Those who did not own their own home had twice the odds of smoking compared with homeowners (odds ratio [OR] = 2.01). Social grade, educational qualification, and income were also good predictors. Those in social grades C1 (OR = 1.04), C2 (OR = 1.29), D (OR = 1.39), and E (OR = 1.78) had higher odds of smoking than those in social grade AB. Similarly, those with A-level/equivalent (OR = 1.15), GCSE/vocational (OR = 1.48), other/still studying (OR = 1.12), and no post-16 qualifications (OR = 1.48) had higher odds of smoking than those with university qualifications, as did those who earned in the lowest (OR = 1.23), third (OR = 1.18), and second quartiles (OR = 1.06) compared with those earning in the highest. Associations between smoking and employment (OR = 1.03) and car ownership (OR = 1.05) were much smaller.

Conclusions
Of a variety of socioeconomic measures, housing tenure appears to be the strongest independent predictor of smoking in England, followed by social grade, educational qualifications, and income. Employment status and car ownership have the lowest predictive power.

Implications
This study used ridge regression, a technique which takes into account high collinearity between variables, to gain a better understanding of the independent associations between different measures of SEP and smoking in England. The findings provide guidance as to which SEP measures one could use when trying to identifying individuals most at risk from smoking, with housing tenure identified as the strongest independent predictor.
Patronage and Slavery in the Roman World: The Circle of Power
Authors: López Barja de Quiroga Pedro 
Published: February 2020

Abstract
From a patron’s vantage point, slaves, freedmen, clients, and parasites constituted his circle of power. The power an aristocrat had was measured by the number and quality of people belonging to it, and by their status. The composition of this circle changed over time: the proud aristocracy of the Roman Republic, which had ample powers over its dependants, was replaced under the Empire by a ‘service aristocracy’ which had to tolerate imperial meddling into its domestic affairs. Imperium (command) was replaced by beneficium (favour) as the catchword of the time. The most important of all beneficia, manumission, contributed to enhancing and completing the aristocratic circle of power.