bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bioethics of Genetic and Genomic Testing
Authors: Brothers Kyle B , Clayton Ellen W 
Published: March 2017

Abstract

Genetic and genomic tests are becoming an increasingly important part of medical care. The knowledge gained from these tests can be used in a variety of ways, including making changes to medical treatments, informing reproductive decisions, and identifying patients' risk for developing diseases in the future. This information may also change the way individuals think about themselves and who they are, or change the way insurance companies and employers treat them. All of these uses raise important ethical questions. These issues have become even more important in recent years, as the tests being used in clinical care have expanded from genetic tests that look at a small number of genes to genomic tests that generate results across patients' entire genomes. Consideration of these ethical issues is an important part of ensuring that decisions to undergo genetic or genomic testing are informed, and that the results of these tests are used in ways that help rather than harm patients and their families.

Key Concepts

Genetic and genomic tests are used to uncover changes in DNA that may be important for patients or their family members.

Before deciding to have a genetic or genomic test, patients are entitled to receive relevant information and make an informed choice.

It might be justified in some circumstances to treat individuals differently based on their genetic risk, but society needs to work towards an agreement on when discrimination on the basis of genetic information is acceptable and when it is unacceptable.

Because genetic changes can be inherited, genetic and genomic test results often create ethical issues related to patients' reproductive decisions and the health of their family members.

Newborn screening tests need to be selected carefully so that the possibility of helping infants is greater rather than harming.

Predictive or predispositional genetic testing may provide useful medical information, but it can also cause patients to be anxious about their future or change the way they think about themselves.

It can be very difficult for patients and healthcare providers to anticipate and address secondary genomic findings.

Not everyone has equal access to genetic and genomic tests, or to the treatments that may make predictive or predispositional genetic tests useful.
Chromatin Structure and Domains
Authors: Izard Fanny , Grimaud Charlotte 
Published: March 2017

Abstract

In eukaryotes, the deoxyribonucleic acid (DNA) molecule is associated with nuclear proteins called histones to form chromatin. This structure is not only essential to compact DNA to fit into the cell nucleus but also contributes to the regulation of DNA‐ dependent molecular mechanisms. Epigenetic modifications such as post‐translational modifications of histones and also precise spatial organisation of chromosomes are now recognised as important features for chromatin dynamics, allowing proper transcription regulation, a major issue of cell differentiation during the development of multicellular organisms.

Key Concepts

Chromatin is a highly structured entity with an important flexibility.

The large repertoire of epigenetic modifications offers a wide range of specific molecular and cellular responses.

Together with genetic information, epigenetic marks play a critical role in the transmission of gene regulation.

Nuclear organisation of chromosomes participates in the inheritance of chromatin states.

Chromosomes organise into functional domains important for DNA regulation.
Dismantling the Apoptotic Cell by Caspases
Authors: Deming Paula , Kurokawa Manabu 
Published: March 2017

Abstract

Apoptosis is a programme of cell death that results in dramatic morphological and biochemical changes in the dying cell due to the systematic dismantling of cellular architecture and functional pathways. The proteins that execute the apoptotic programme are a group of proteases termed caspases (cysteine‐dependent aspartate‐specific protease). Caspases proteolytically cleave a host of cellular substrates at aspartate residues, which may render them either functionally inactive or confer novel activities that help to promote cellular demise. Substrates targeted by caspases during the apoptotic programme include proteins involved in maintaining various aspects of cytoskeletal and organelle architecture as well as proteins that function in signalling networks critical for cell function. Following the execution phase of apoptosis, the cellular corpse is packaged in an orderly fashion into membrane‐bound apoptotic bodies that are sensed by phagocytes, which neatly engulf the dead cell without eliciting an immune response.

Key Concepts

Apoptotic caspases are cysteine proteases that become activated in response to diverse extracellular and intracellular stimuli and subsequently carry out the cell death programme by systematically cleaving intracellular proteins.

A hierarchy of caspase activation exists whereby initiator caspases become activated to cleave and activate effector caspases.

The cellular morphological changes associated with apoptosis encompass three stages: release, membrane blebbing and condensation.

Caspase‐mediated cleavage of target proteins may produce stable functional effector fragments or unstable fragments that are quickly degraded.

Caspases target multiple aspects of the cellular architecture to induce collapse of organelles and the cytoskeleton.

Signalling networks that regulate cellular processes critical for cell survival are inactivated by caspases.

As the dying cell is dismantled during the apoptotic process, it orchestrates its own disposal by displaying ‘eat me’ signals on its cell surface and releasing ‘find me’ signals to recruit phagocytic cells.
Parental Care and Investment
Authors: Fromhage Lutz 
Published: March 2017

Abstract

Parental care is common throughout the animal kingdom, and much variation exists among species in how, and how much, parents care for their offspring. In most species, females care more; in others, males care more and in some, caring is more or less equally shared between the sexes. Several hypotheses have been proposed to explain patterns of parental care within and among species. These hypotheses invoke factors such as the relatedness (parentage certainty) of each parent to the brood; the sex ratio at maturation; the strength of sexual selection faced by each sex and the exact nature of any trade‐offs between caring and other activities. Work is still ongoing to develop an overarching hypothesis to explain the various patterns observed.

Key Concepts

Among species there is much variation in how, and how much, parents care for their offspring.

Differences between the sexes in parental care can evolve if one sex has more to gain and/or less to lose by providing care.

Coevolution between parental care and sexually selected traits may amplify small initial sex differences in caring over time.

Individual decisions on the optimal parental investment can lead to conflict between parents, as well as between parents and offspring.

In some species, care of the offspring is not the exclusive responsibility of the parents but is shared among members of a group, termed cooperative breeding. In other species, adults sometimes take care of unrelated offspring, either willingly (as in adoptions) or unwillingly (as in brood parasitism).

Within species, parents sometimes adjust the amount of investment in offspring based on cues from their partner or from the offspring themselves.
Nonsteroidal Anti‐Inflammatory Drugs (
NSAIDs
)
Authors: Kumar Sanjit , Qamar Imteyaz , Singh Nagendra 
Published: March 2017

Abstract

Nonsteroidal anti‐inflammatory drugs (NSAIDs) constitute a very important category of drugs that has therapeutic applications exploited since centuries. NSAIDs are a key composition for pharmacological management of acute and chronic pain. These drugs have enthralling evolution from the classic molecule called aspirin to the recently available coxibs, used for treatment of inflammatory conditions such as rheumatoid arthritis (RA) and osteoarthritis (OA). Almost all the drugs available in this category are associated with physiological side effects ranging from gastrointestinal to heart‐ and liver‐related diseases. As a result, the development and search for an ultimate magic drug molecule to treat inflammation continues to be an important face till date. The mechanism of action of NSAIDs relies mainly on inhibition of production of proinflammatory compounds by the action of cyclooxygenase (COX) enzymes. NSAIDs differ in their potency, duration of action and cause of gastric ulcer depending on their relative selectivity of COX enzymes (COX‐1/2). As recent developments, COX‐2‐selective inhibitors are being designed in search of safer and effective pain killer molecules, as COX‐1 inhibitors are associated with undesired side effects. In spite of the tremendous efforts being made since the past decade, the development of an effective and safe NSIAD to treat inflammatory conditions still presents key challenges.

Key Concepts

NSAIDs are most commonly used chemicals in the form of drugs.

Almost all NSIADs have adverse physiological effect on prolonged usage.

Novel category of NSAIDs to inhibit COX‐2 isoform is being developed.

Novel targets are needed to be explored for designing of safer drugs to control pain and inflammation.

More specific drugs are needed in order to avoid toxic effects.
Genomic Arrays in Prenatal Diagnosis
Authors: Evangelidou Paola , Sismani Carolina 
Published: March 2017

AbstractPrenatal diagnosis (PND) is being applied to high‐risk pregnancies in order to identify possible genetic disorders in an unborn foetus or embryo. Through the application of various techniques, genetic disorders can be detected. As chromosomal abnormalities are one of the major causes of childhood intellectual disability and first trimester intrauterine deaths, PND is often suggested to exclude genetic disorders caused by chromosomal abnormalities. Currently, chromosomal analysis is the method of choice in PND, but with the emerging technologies, its substitution to array comparative genomic hybridisation (array‐CGH), is being considered. Challenges such as, interpretation issues, limitations of the method and lack of a dedicated database for prenatal samples that correlates ultrasound findings to copy number changes, need to be overcome before conventional karyotyping can be replaced by array‐CGH in PND.Key ConceptsPrenatal diagnosis is applied to high‐risk pregnancies.Invasive prenatal diagnosis is required to exclude genetic disorders in the foetus.Chromosomal analysis, a whole genome testing, is used to detect chromosomal abnormalities in prenatal diagnosis.Noninvasive prenatal screening tests can be offered to all pregnant women.Complementary methods to chromosomal analysis can be applied to offer rapid prenatal testing for certain conditions.Array‐CGH, a whole genome diagnostic test can be offered to add diagnostic value to chromosomal analysis.
Anophthalmia/Microphthalmia/Coloboma (
MAC
)
Authors: Schneider Adele , Kopinsky Sarina 
Published: March 2017

Abstract

Microphthalmia/anophthalmia/coloboma (MAC) are congenital anomalies of the eye that form a continuum from coloboma at the mild end to anophthalmia at the severe end. When we refer to anophthalmia, usually we mean clinical anophthalmia where there is so little eye tissue that it is not visible, but it is in fact severe microphthalmia. On magnetic resonance imaging (MRI) of the orbit, rudimentary tissue might be visible and in some cases, you can see a hypoplastic optic nerve. There may be eye adnexa present like tear ducts. Microphthalmia can be very variable from clinical anophthalmia to slightly small eye. Ultrasound of the orbit can help determine the actual size and structure of the eye.
MAC is genetically heterogeneous. This means that there are many different causes. MAC may be associated with other anomalies (syndromal) or alone (nonsyndromal). There are many developmental genes that can be implicated in these eye anomalies.

Key Concepts

Anophthalmia is a very small, abnormal eye and often has no useful vision.

Microphthalmia is more variable and can even be a small and normal looking eye.

Coloboma develops when the optic fissure does not close fully as the eye develops in the embryo, vision loss is variable.

Genetic causes of MAC can be due to mutations in many genes or chromosomal trisomies, deletions/duplications that include eye development genes.

Some teratogens such as alcohol can cause MAC.

MAC can occur in one eye or both the eyes and each eye can have a different problem.
When Did the Renaissance in Architecture Begin?: From Panofskian Mythography to Vasarian History
Authors: Trachtenberg Marvin 
Published: March 2017

Abstract

As the editor of this volume notes, Wölfflin famously asked more than a century ago, “Why did the Renaissance end?” Behind the flat question, I hear a pang of regret. A student of Burckhardt and a man of his time, perhaps Wölfflin was really asking, “Why…why did it all have to end?” Given the unflagging celebrity of the Renaissance, not least among scholars, many may share Wölfflin's regret, especially anyone who harbors the fantasy that the Renaissance still lives on in spirit at the heart of modernity. Turning Wölfflin on his head, however, we may entertain an even more telling question that the great historian did
not
ask: “Why did the Renaissance
begin
?” This question is seldom posed because the answer seems self‐evident to most. Humanism, wealth, and individual genius combined to lift Italy, beginning with Florence, from the cultural gutter of the Middle Ages. Like a rising tide, the turn had to come. Steeped in the belief that modernity originated in the period, for modern people the idea of “no Renaissance” remains virtually unthinkable (like imagining having no grandparents). An absent Renaissance would be an intolerable loss for all.
The Birth of the Modern City
Authors: Conforti Claudia 
Published: March 2017

AbstractThis chapter addresses the relationship between architecture and the birth of the modern city in the Italian Renaissance, focusing in particular on the relations between buildings, context, and, above all, the urban infrastructures (roads, bridges, squares, water mains) that acquired a fundamental role in the cities of the sixteenth century. Florence and Rome are the two main case studies. These two cities, which were experimental laboratories for the “modernamente antica” architecture in the fifteenth and early sixteenth centuries, subsequently developed different architectural and urban forms, not only as a consequence of the political and social frameworks but also of the different organization of the building process and its changing economic role. In Rome, this culminated in the baroque explosion that disseminated forms, spaces, and models for the city throughout the world. In Florence, after the innovative period during the reign of Cosimo I Medici (1537–74), architecture turned in upon itself well into the seventeenth century for dynastic and economic reasons, thus rendering sterile the inheritance of the architects of the golden age (such as Michelangelo, 1475–1564).
The City At War and The Semantic Armament of Renaissance Architecture
Authors: Hilliges Marion 
Published: March 2017

Abstract
War and destruction affected the architecture and urban planning of the Early Modern period, even more than scholars have acknowledged so far. In fact, the necessity of fortifying and modernizing old city walls triggered technical innovations, new construction techniques, and a modern architectural language dominated by symbolism of strength, force, and security. This new manner appears not only in the peninsula of Italy – the region with the most innovative impulse – but also in most other European countries. This military architectural manner was a kind of “international style” disseminated by Italian engineers. This chapter provides synthetic perspective of the issue, focusing on some striking aspects and significant examples of modern regulated cities and edifices in this design vocabulary.
Taking Place: Architecture and Religious Devotion in Seventeenth‐Century Italy
Authors: Hills Helen 
Published: March 2017

AbstractBaroque ecclesiastical architecture declares itself to be separate, distinct, apart, almost another world. Thus the vault of Il Gesù in Rome offers a glimpse into Paradise, even as heavenly figures spill over into this world. It exposes us to a relation in which architecture and heaven are at once distinct from and integral to each other, in which one sunders the other but also makes it possible. The paradoxes of enclosure seem to lie at the heart of both architecture and Christianity. Yet since all boundaries are necessarily porous, to conceive of seventeenth‐century religious architecture simply either as enclosure or as its obverse, as porous, risks confining it to a limiting form of its own enclosure. While scholarship persists in treating baroque architecture in those terms, I argue here that it is more productively thought of in terms of its potential for opening and, like Christianity itself, as an address toward something that there is no possibility of reaching. Just as in Christianity the promise is at once already realized and yet to come, baroque architecture may usefully be thought of as that which also opens the possibility of what is to come. It gestures toward the existence of what is not in this world, without being another world for all that. Thus this chapter explores baroque religious architecture not as enclosure or container for something stable and containable, or as a closure that therefore inevitably disencloses, but in terms of immanence, as that which makes possible new openings, without resorting to a transcendent. This chapter concentrates on Naples in order to counter the persistent overwhelming scholarly bias in favor of Rome, Florence, and Venice that continues to marginalize and exoticize the Italian south.
Jesuit Architecture Worldwide: A Culture of Corporate Invention
Authors: Levy Evonne 
Published: March 2017

AbstractThe rapidly expanding early modern religious order, the Society of Jesus, built churches and other structures all over the world starting in the mid‐sixteenth century. Because the Jesuits were a highly centralized organization and oversaw design of their global building projects, it has often been thought that design was dictated by Roman authorities. While that view has been considerably nuanced it is still important to weigh the desire for a corporate sense of identity and the practices within the Society of Jesus that encouraged references among Jesuit buildings, against the inventiveness of individual architects and local building practices and traditions. Because “normative” Jesuit practices always arose from unique cases this chapter considers general principles against three detailed cases studies: the Jesuit Mother Church, il Gesù, in Rome (which acquired exemplary status), and the Jesuit churches in Munich and in Antwerp.
Classicism and Church Architecture in Early Seventeenth‐Century France: Aspects and Debates
Authors: Naginski Erika 
Published: March 2017

AbstractMuch has been made of the stylistic and typological diversity of French religious edifices dating from the late sixteenth and early seventeenth centuries. Searching for architectural paradigms strikes one as a remarkably futile exercise in Counter‐Reformation France, and there are countless reasons for this. Among them, one can cite the ideological differences between Catholic and Protestant liturgical practices and the dynastic change from the House of Valois to the House of Bourbon, as well as the resistance of the Gallican church to certain Tridentine decrees. Important, too, is the lack of uniformity of the so‐called “Jesuit Style” as it spread across Europe – this despite the prototype instantiated by Giacomo Barozzi da Vignola and Giacomo della Porta's Church of Il Gesù (1568–76), Rome, whose architectural lineaments were promulgated through the efficient channels of the Society of Jesus’ institutional structures. Those lineaments articulated anew the relationship of exterior and interior by means of pedimented, two‐story aedicular façades with volutes affixed to light‐filled, unified, and monumental rectangular spaces. Domes maximizing the visibility of the altar and the “pronounced integration of the longitudinal and centralized schemes,” as the architectural historian Christian Norberg‐Schulz described it, aimed to abolish barriers between the clergy and laity. Yet such objectives were complicated outside Italy by the multifaceted encounters between northern and southern building traditions.
Religious Architecture and the Image in the Southern Netherlands after theBeeldenstorm: Shrines for Miracle‐Working Statues of the Virgin Mary
Authors: Delbeke Maarten 
Published: March 2017

AbstractThe earliest modern historiography of the religious architecture of the Southern Netherlands already raised the question of exactly how the religious and political turmoil in the region affected the stylistic and typological evolution of the architecture. In particular, early architectural historians have been interested in understanding how, under these circumstances, Italian models became incorporated in local architectural practice. Starting from Victor Hugo's and Charles Baudelaire's early comments about baroque architecture and its role in nineteenth‐century Catholic devotion, this chapter combines the findings of recent architectural historical scholarship with new views about the Catholic religiosity of the region to examine how new and restored shrines for miracle‐working statues of Mary exemplify the role of architecture in establishing an at once age‐old and new Catholic landscape. Drawing on learned and popular seventeenth‐century Catholic historiography, this chapter considers religious buildings not only as the architectural answer to the often complex demands of patrons and users, but also as key components in the material culture of religion.
British Classicism to 1700 and the Search for a National Architectural Style
Authors: Hart Vaughan 
Published: March 2017

AbstractIn 1624 the English diplomat Henry Wotton (1568–1639) noted the “naturall imbecility” of pointed arches, and advised that they “ought to bee exiled from judicious eyes, and left to their first inventors, theGothesorLumbards, amongst otherReliquesof that barbarousAge.” Wotton had served as Stuart ambassador to Venice, and was a keen advocate of the use of the antique columns (or “orders”) that he had witnessed there. He was writing at a time when there were early signs of a fundamental change in the accepted style of British court buildings and in the architectural fashion that they led. This shift in fashion had spread north from Italy during the sixteenth century. The Banqueting House by Inigo Jones (1573–1652) had only just been completed at Whitehall (1619–23), and the ground story of his Queen's House now stood at Greenwich (1616–18). English construction practices were moving away from the mixture of rich medieval and antique decoration that had been favored by Elizabethan courtiers, toward the more restrained and exclusive use of antique ornament and forms that is evident in most of Jones’ work. These forms were derived from Italian sources and included, for the first time under Jones, temple fronts with pediments and porticoes.