bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human Parechoviruses: Biology and Infection
Authors: Fischer Thea K , Harvala Heli , Midgley Sofie 
Published: July 2017

Abstract

Infections with human parechoviruses (HPeVs) are highly prevalent, particularly in neonates, where they may cause substantial morbidity and mortality. The clinical presentation of HPeV infection in neonates is indistinguishable from that of enterovirus (EV) infection and may vary from mild disease involving gastrointestinal and/or respiratory symptoms to more severe illness with sepsis‐like symptoms such as fever, seizures, irritability, rash and/or feeding problems. HPeV is among the most common single causes of aseptic meningitis/meningoencephalitis in infants <90 days old worldwide. The mainstay of diagnosis for HPeV infections involves the use of molecular diagnostic techniques for detection of virus RNA (ribonucleic acid) in various materials (e.g. faeces, cerebrospinal fluid (CSF), nasopharyngeal, bronchial and autopsy materials). Despite the relatedness of HPeV and EV both at the genomic and clinical presentation levels, routine nucleic acid detection methods for EV will not detect HPeV. Laboratory diagnosis of these viral infections is important not only for differential diagnostic purposes and determining a patient's prognosis but also for guidance of clinical management. Clinical disease varies somewhat among genotypes; while HPeV1 mostly causes gastrointestinal illness, HPeV3 prominence is due to sepsis syndromes and central nervous system (CNS) infections in preterm and term infants. Of diagnostic importance, HPeV3 CNS infections usually lack CSF pleocytosis, and despite ‘unremarkable’ CSF, HPeV3 RNA can be amplified from CSF, nasopharyngeal and rectal swabs in an infected individual. Taking the global incidence of reported laboratory‐confirmed HPeV cases into consideration, mortality and sequelae are overall uncommon and usually accompanying initially severe or neurologically complicated acute illnesses. However, underreporting due to lack of testing and/or appropriate diagnostic methodology likely means gross underestimation of the true incidence of HPeV disease. Currently, neither effective treatment nor vaccines are available in the control of these common viruses with the potential to cause severe harm in neonates and young children worldwide.

Key Concepts

HPeV infections are common among infants and children worldwide.

HPeV infections are underdiagnosed, and HPeV disease burden underestimated.

Nineteen HPeV types identified so far – their role/significance in human infections unclear except for HPeV3.

HPeV3 is a major cause of neonatal infections including severe meningoencephalitis.

Genomic differences between EV and HPeV.

Diagnostics: HPeV required specific PCR for detection, not that easy to culture.

Majority of children with HPeV3 infection lack pleocytosis in CSF/have normal CSF.

Having older siblings are associated with higher risk for an infant to be hospitalised with severe HPeV infection.

HPeV infection should always be ruled out when caring for infants with sepsis‐like illness and/or CNS infection.
Adverse Selection and Insurance
Authors: Hoy Michael , Lun Esmond (Tin Ching) 
Published: July 2017

Abstract

If insurance providers cannot determine the risk levels of their various clients, but individuals do know this information, then adverse selection arises. We present the canonical models of adverse selection in insurance markets that shed some light on the economic consequences of this phenomenon. Under symmetric information, companies observe all relevant risk characteristics. By charging risk‐type specific prices, all risk types purchase full coverage. The result is an efficient allocation of resources with no risk bearing costs incurred by individuals. Under asymmetric information (adverse selection), if contracting is exclusive (i.e. each insured can contract with one and only one insurer), high risks end up with full insurance, but low‐risk types end up with partial coverage. Under nonexclusive contracting (i.e. each insured may purchase contracts from more than one insurance provider), higher risk individuals end up with too much insurance, while low risk individuals end up with too little. In either case, the allocation of resources is inefficient.

Key Concepts

Under symmetric information, each risk type purchases full insurance at the risk type specific actuarially fair odds rate and this allocation is pareto efficient. However, if these contracts were offered under asymmetric information, one expects high risk types to report being low risk in order to receive a more favorable contract

If insurance companies do not have access to information about immutable characteristics of their potential customers where these characteristics affect the risk level of some activity, then this creates a situation of asymmetric information and a problem of adverse selection (also called antiselection).

As individuals who are ‘bad risks’ (i.e. low risk) will desire more insurance than ‘good risks’ (i.e. high risk) if the price is the same for all, then insurers would end up selling more insurance to the bad risks and so the overall price of insurance would reflect this.

If a pooling contract is offered and purchased, there is always a profitable deviation that is only attractive to low risk types but not high risk types. However, if insurance companies have sufficient foresight, they would not offer such a contract in the first place as such a deviation will make losses once other firms react to it.

Adverse selection may also result in screening strategies whereby insurers offer higher coverage at a higher unit price in order to attract high‐risk types with lower risk types ending up with less insurance coverage.
T‐Box Genes: Developmental Functions in Mammals
Authors: Papaioannou Virginia E 
Published: July 2017

AbstractTranscription factors encoded by the T‐box gene family control key functions throughout development in all metazoans. The DNA (deoxyribonucleic acid)‐binding domain is highly conserved. There are 17 genes in mouse and human, all with diverse functional roles from early embryogenesis through organogenesis and tissue homeostasis. The same gene may function in different tissues and at different stages such that mutation phenotypes can be complex. Most T‐box mutations display heterozygous defects, indicating dose sensitivity. Several T‐box genes affect pluripotency and differentiation in the pre‐ and early postimplantation embryo; limb outgrowth and differentiation is a major developmental area affected by T‐box genes as is the heart, nervous system, immune system and many other organs and tissues. T‐box gene loss‐of‐function mutations in humans cause major developmental syndromes such as ulnar‐mammary and Holt–Oram syndrome, and other abnormalities are increasingly being attributed to alteration in T‐box gene function, including the association with many types of cancer.Key ConceptsT‐box genes code for transcription factors with diverse roles in development through regulation of a variety of downstream target genes.They comprise an ancient gene family present in all metazoans as well as nonmetazoan lineages, defined by a conserved DNA‐binding motif.In vertebrates, T‐box genes play diverse and key roles in specification, differentiation and development of most organ systems.Mutations in T‐box genes result in complex birth defects and/or neonatal lethality and usually show effects in heterozygotes and homozygotes.Multiple tissues may be affected by the same T‐box gene, and multiple T‐box genes may affect the same tissue at the same or different times in development.Mutation or misregulation of T‐box genes is associated with a large variety of human cancers.Little information is available about the role of T‐box genes in adult organisms.
Laboulbeniomycetes
Authors: Weir Alex 
Published: July 2017

AbstractFungi belonging to class Laboulbeniomycetes are a diverse group that utilise arthropods for nutrition and/or dispersal. This enigmatic group has been studied by very few researchers since their original discovery in the mid‐nineteenth century. Salient features of the general biology of these organisms include information on host range, transmission, host specificity, position specificity, pathogenicity, thallus development and classification and phylogeny.Key ConceptsClass Laboulbeniomycetes are a diverse group of Ascomycete fungi.These understudied organisms utilise arthropods for nutrition and/or dispersal.General biological features of Laboulbeniomycetes are outlined.Results from the latest research on the group are summarised.Areas for future research are defined.
Molecular Imaging in Genomic Medicine
Authors: Shaikh Faiq A , Mulero Francisca , Mohiuddin Sohaib A 
Published: July 2017

Abstract

Molecular imaging is the result of advances in the fields of molecular biology and imaging technology and has become an increasingly important tool in the discovery and understanding of a wide range of pathophysiologic processes, ranging from genetic disorders to malignant conditions. The advancement in molecular pathology techniques has enabled us to study the complex genotype of disease entities and how it impacts their behaviour and natural history. Image‐guided genomic medicine utilises methodologies to integrate genomic and radiologic data to develop insights into the genotype–phenotype relationship, which in turn can guide medical decision‐making and treatment planning.

Key Concepts

Molecular imaging comprises the visualisation, characterisation and measurement of biological processes at the molecular and cellular levels, which can synergise with genomic medicine to enhance our understanding of disease processes.

Reporter gene imaging entails encoding proteins that can be rapidly and sensitively assayed as surrogate markers when fused with regulatory regions of the gene of interest as a means of indirectly monitoring molecular basis of diseases.

Optical imaging is based on the principle of detecting light in living organisms that reflect molecular processes; types include bioluminescence and fluorescence imaging.

ImmunoPET is based on combining the PET with monoclonal antibodies raised against a tumoural antigen.

Functional MRI uses the MRI technology to provide a means of measuring brain activity by detecting changes associated with blood flow as a phenotype that can be correlated with genotypic data.

Radiomics/imaging genomics leverage machine learning technology to process large data sets acquired through imaging and genomic biomarker extraction and provide valuable insights into pathophysiology and personalised disease management.

Gene therapeutics is another area where molecular imaging can be valuable in therapy monitoring and response assessment.
Molecular Genetics of Hyperaldosteronism
Authors: Scholl Ute I 
Published: July 2017

Abstract

In primary aldosteronism, the adrenal gland produces excessive amounts of the steroid hormone aldosterone, which causes hypertension. Common causes are aldosterone‐producing adenomas (benign tumours) and bilateral adrenal hyperplasia. The majority of aldosterone‐producing adenomas carry somatic mutations in known disease genes. These include
KCNJ5
(a potassium channel),
CACNA1D
(a calcium channel) and
ATP1A1
and
AT2B3
(ATPase subunits). These mutations either directly or indirectly cause increased intracellular calcium levels, which lead to increased aldosterone production and proliferation. Mutations in
CTNNB1
(beta‐catenin) are rare. The molecular mechanisms underlying bilateral adrenal hyperplasia are largely unknown, with the exception of rare forms of familial hyperaldosteronism (FH). FH‐I, ‐III and ‐IV are caused by germ line mutations in
CYP11B2
(aldosterone synthase),
KCNJ5
and
CACNA1H
(another calcium channel), respectively, and a syndrome that includes neurologic abnormalities is due to germ line mutations in
CACNA1D
. These observations suggest pathways for the development of novel diagnostic and therapeutic strategies in primary aldosteronism.

Key Concepts

Primary aldosteronism is the most common cause of secondary hypertension, caused by aldosterone‐producing adenoma or bilateral adrenal hyperplasia.

Recent exome sequencing studies have identified the genetic basis of the majority of aldosterone‐producing adenomas.

Somatic mutations in the potassium channel
KCNJ5
explain about 40% of aldosterone‐producing adenomas.

Mutations in
KCNJ5
are associated with female gender, early onset and larger tumour size.

Other somatic mutations in aldosterone‐producing adenomas affect the
CACNA1D
,
ATP1A1
,
ATP2B3
and
CTNNB1
genes.

The shared common final pathway of somatic mutations in aldosterone‐producing adenomas is increased calcium signalling, which causes excessive aldosterone production and proliferation.

The pathophysiology of sporadic bilateral adrenal hyperplasia is largely unknown.

Rare forms of familial hyperaldosteronism (FH) include FH‐I, ‐III and ‐IV, caused by germ line mutations in
CYP11B2
,
KCNJ5
and
CACNA1H
, respectively, and FH‐II, whose genetic basis remains unknown.

The identification of the molecular mechanisms of primary aldosteronism suggests pathways for the development of novel diagnostic and therapeutic strategies.
Lamins in Inherited Disease
Authors: Comai Lucio 
Published: July 2017

Abstract

Lamins are a family of intermediate filament proteins that establish a complex protein network on the inner side of the nuclear membrane and play a critical role in preserving the structural integrity of the nuclear envelope. They also contribute to the spatial organisation of the genome and influence nuclear processes through a multitude of interactions with proteins and DNA (deoxyribonucleic acid). A large number of mutations have been identified primarily in the gene that encodes for A‐type lamins that cause a group of diseases with a broad range of clinical phenotypes collectively known as laminopathies. Many of these disorders show tissue‐restricted pathologies, indicating that even though lamins are present in the vast majority of metazoan cells, the mutations differentially influence the physiology of distinct tissues. Important clues have emerged over the past decade on the impact of disease‐causing mutations on the processes that maintain the structural and functional integrity of the nucleus.

Key Concepts

Lamins are components of the nuclear lamina, a network of proteins that controls nuclear structure and stiffness.

Lamins play critical roles in the spatial organisation of the nucleus, chromatin organisation, nucleocytoplasmic communication and mechanotransduction.

Mutations in genes encoding lamins are associated with a wide range of human diseases known as laminopathies.

Studies of lamins structure and function have shed light on the molecular mechanisms of disease pathogenesis.

Insights into the molecular pathology of lamins‐associated diseases create opportunities for the development of novel therapeutic strategies.
Comparison between electromagnetic transponders and radiographic imaging for prostate localization: A pelvic phantom study with rotations and translations
Authors: Hamilton Daniel G. , McKenzie Dean P. , Perkins Anne E. 
Published: July 2017

AbstractThe aim of this study was to evaluate the differences in target localization between Calypso®, kV orthogonal imaging and cone‐beam computed tomography (CBCT) for combined translations and rotations of an anthropomorphic pelvic phantom. The phantom was localized using all three systems in 50 different positions, with applied translational and rotational offsets randomly sampled from representative normal distributions of prostate motion. Lin's concordance correlation coefficient (ρc) and 95% confidence intervals were calculated to assess the agreement between the localization systems. Mean differences and difference vectors between the three systems were also calculated. Agreement between systems for lateral, vertical, and longitudinal translations was excellent, with ρc values of greater than 0.98 between all three systems in all axes. There was excellent agreement between the systems for rotations around the lateral axis (pitch) (ρc > 0.99), and around the vertical axis (yaw) (ρc > 0.97). However, somewhat poorer agreement for rotations around the longitudinal axis (roll) was observed, with the lowest correlation observed between Calypso and kV orthogonal imaging (ρc = 0.895). Mean differences between the phantom position reported by Calypso and the radiographic systems were less than 1 mm and 1° for all translations and rotations. The results for translations are consistent with the publications of previous authors. There is no comparable published data for rotations. While there is lower correlation between the three systems for roll than for the other angles, the mean differences in reported rotations are not clinically significant.
Psychometric Comparison of Dissociative Experiences Scales II and C: A Weak Trauma‐Dissociation Link
Authors: Patihis Lawrence , Lynn Steven Jay 
Published: July 2017

SummaryThe debate regarding the relationship between dissociation and trauma has raised questions regarding the validity of measures of dissociation. Dalenberg et al.'s () meta‐analysis included studies using the Dissociative Experiences Scale (DES II), but excluded the DES‐Comparison (DES‐C) scale, claiming that it lacked validity as a measure of dissociation. Lynn et al. () contended that omitting those studies might have skewed the results. In the current study, we compared the psychometric properties of both measures in two nonclinical US adult (student, general population) samples to evaluate the convergent and discriminant validity of the scales. We found support for the DES‐II as a measure of dissociation as well as the validity and reliability of the DES‐C, which compares well to the DES II. Compared with studies in Dalenberg et al., we found lower correlations between trauma and dissociation. No empirical basis exists to exclude studies using the DES‐C in literature reviews. Copyright © 2017 John Wiley & Sons, Ltd.
Low‐Cost Metallic Anode Materials for High Performance Rechargeable Batteries
Authors: Wang Meng , Zhang Fan , Lee Chun‐Sing , Tang Yongbing 
Published: July 2017

AbstractThe ever‐growing market of portable electronic devices and electric vehicles has significantly stimulated research interests on new‐generation rechargeable battery systems with high energy density, satisfying safety and low cost. With unique potentials to achieve high energy density and low cost, rechargeable batteries based on metal anodes are capable of storing more energy via an alloying/de‐alloying process, in comparison to traditional graphite anodes via an intercalation/de‐intercalation process. However, the drawbacks of metal anodes such as high initial capacity loss and short cycling life need to be solved before commercialization. Herein, we mainly dedicate the attention on recent progresses in the metallic materials (e.g., Al, Sn, Mg, Zn, Sb and Bi) which have the best likelihood of being applied in commercial batteries and the advanced modification strategies including nanosizing, composite design, and alloy/intermetallic construction for better battery performance. In addition, the investigations of such metal anodes in some new battery systems such as sodium‐ion batteries, aluminum‐ion batteries, zinc‐ion batteries, magnesium‐ion batteries, and dual‐ion batteries are further briefly reviewed.
The Council of Emergency Medicine Residency Directors Speaker Evaluation Form for Medical Conference Planners
Authors: Phillips Andrew W. , Diller David , Williams Sarah , Park Yoon Soo , Fisher Jonathan , Biese Kevin , Ufberg Jacob 
Published: July 2017

AbstractObjectivesNo summative speaker evaluation form with validity and reliability evidence currently exists in the English medical education literature specifically to help conference planners make future decisions on speakers. We seek to perform a proof‐of‐concept evaluation of a concise, effective evaluation form to be filled out by audience members to aid conference planners.MethodsWe created the Council of Emergency Medicine Residency Directors (CORD‐EM) form, a novel, three‐question speaker evaluation form for the CORD‐EM national conference and evaluated it for proof of concept. The CORD‐EM form was analyzed with three evaluators and randomized to select only two evaluators’ ratings to make results more generalizable to a generic audience evaluating the speaker.ResultsForty‐six total evaluations ranged from 6 to 9 (mean ± standard deviation = 8.1 ± 1.2). The form demonstrated excellent internal consistency (Cronbach's alpha = 0.923) with good inter‐rater reliability (intraclass correlation = 0.617) in the conference context.ConclusionsThe CORD‐EM speaker evaluation form is, to our knowledge, the first evaluation form with early reliability and validity evidence specifically designed to help conference planners. Our results suggest that a short speaker evaluation form can be an effective instrument in the toolbox for conference planners.
Prospective evaluation of chronic organ damage in adult sickle cell patients: A seven‐year follow‐up study
Authors: van Tuijn Charlotte F. J. , Schimmel Marein , van Beers Eduard J. , Nur Erfan , Biemond Bart J. 
Published: July 2017

AbstractOrgan damage in sickle cell disease (SCD) is a crucial determinant for disease severity and prognosis. In a previous study, we analyzed the prevalence of SCD‐related organ damage and complications in adult sickle cell patients. We now describe a seven‐year follow‐up of this cohort.All patients from the primary analysis in 2006 (n = 104), were included for follow‐up. Patients were screened for SCD‐related organ damage and complications (microalbuminuria, renal failure, elevated tricuspid regurgitation flow velocity (TRV) (≥2.5 m/seconds), retinopathy, iron overload, cholelithiasis, avascular osteonecrosis, leg ulcers, acute chest syndrome (ACS), stroke, priapism and admissions for vaso‐occlusive crises (VOC) biannually. Upon 7 years of follow‐up, progression in the prevalence of avascular osteonecrosis (from 12.5% to 20.4%), renal failure (from 6.7% to 23.4%), retinopathy (from 39.7% to 53.8%) was observed in the whole group. In HbSS/HbSβ0‐thal patients also progression in microalbuminuria (from 34% to 45%) and elevated TRV (from 40% to 48%) was observed while hardly any progression in the prevalence of cholelithiasis, priapism, stroke or chronic ulcers was seen. The proportion of patients with at least one episode of ACS increased in the group of HbSS/HbSβ0‐thal patients from 32% to 49.1%. In conclusion, 62% of the sickle cell patients in this prospective cohort study developed a new SCD‐related complication in a comprehensive care setting within 7 years of follow‐up. Although the hospital admission rate for VOC remained stable, multiple forms of organ damage increased substantially. These observations underline the need for continued screening for organ damage in all adult patients with SCD.